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 KIT 3815 broad.mit.edu 37 4 55594221 55594221 + Missense_Mutation SNP A A G rs121913512 TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr4:55594221A>G ENST00000288135.5 + 13 2021 c.1924A>G c.(1924-1926)Aaa>Gaa p.K642E NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 642 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K642E(25)|p.K642Q(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTCTGAACTCAAAGTCCTGAG 0.438000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 158 5 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167039974 167039974 + Missense_Mutation SNP G G T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr3:167039974G>T ENST00000392766.2 - 12 1254 c.914C>A c.(913-915)cCa>cAa p.P305Q ZBBX_ENST00000307529.5_Missense_Mutation_p.P305Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.P305Q|ZBBX_ENST00000455345.2_Missense_Mutation_p.P305Q|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.P276Q NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 305 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AATATTAAGTGGTTCTCTCCA 0.279000 40 53 9.62906e-15 1.0592e-14 1 1 0 DNAJC17 55192 broad.mit.edu 37 15 41060197 41060197 + Missense_Mutation SNP C C T rs142251536 byFrequency TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr15:41060197C>T ENST00000220496.4 - 11 886 c.856G>A c.(856-858)Gag>Aag p.E286K DNAJC17_ENST00000558727.1_5'UTR NM_018163.2 NP_060633.1 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 286 protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TGTTGCCGCTCGGCCGCCTGG 0.652000 17 19 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12978085 12978085 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr3:12978085C>T ENST00000273221.4 - 3 689 c.473G>A c.(472-474)cGc>cAc p.R158H IQSEC1_ENST00000473088.1_5'UTR NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 158 IQ. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATGGAGCTGCGCAAGCGCTC 0.582000 6 14 0 0 1 0 0 GPA33 10223 broad.mit.edu 37 1 167042719 167042719 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr1:167042719G>A ENST00000367868.3 - 2 444 c.101C>T c.(100-102)tCg>tTg p.S34L GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 34 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CTTTCCCTGCGAAGCCCGAAG 0.542000 21 56 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908451 103908451 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr11:103908451C>T ENST00000302259.3 + 1 1144 c.901C>T c.(901-903)Cgt>Tgt p.R301C PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 301 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AATTATTGGCCGTGTTCATCT 0.483000 59 88 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42631976 42631976 + Silent SNP G G A rs35039186 byFrequency TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr15:42631976G>A ENST00000318010.8 + 17 2193 c.1953G>A c.(1951-1953)aaG>aaA p.K651K NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 651 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity p.K651K(1) breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TGAACACCAAGCGACGAGAGC 0.572000 4 46 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10452485 10452485 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr3:10452485C>T ENST00000397077.1 - 5 789 c.214G>A c.(214-216)Gct>Act p.A72T ATP2B2_ENST00000383800.4_Missense_Mutation_p.A72T|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A72T|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A72T|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A72T Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 72 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 AGGTCTGGAGCGGTGCCCGGC 0.532000 120 96 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58568105 58568105 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:58568105C>T ENST00000317147.5 - 40 6173 c.5841G>A c.(5839-5841)gtG>gtA p.V1947V CNOT1_ENST00000245138.4_Silent_p.V798V|CNOT1_ENST00000569240.1_Silent_p.V1942V NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1947 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTGAGTGTTTCACGAGCAGTG 0.502000 32 20 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30097603 30097603 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr13:30097603C>T ENST00000380752.5 - 7 1235 c.849G>A c.(847-849)caG>caA p.Q283Q NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 283 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GGATGGCCTTCTGTGGGTTCT 0.592000 15 19 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86803974 86803974 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr7:86803974C>T ENST00000394703.5 + 9 1071 c.508C>T c.(508-510)Cgc>Tgc p.R170C DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.R129C|DMTF1_ENST00000394702.3_Missense_Mutation_p.R170C|DMTF1_ENST00000413276.2_Missense_Mutation_p.R170C|DMTF1_ENST00000331242.7_Missense_Mutation_p.R170C|DMTF1_ENST00000432937.2_Missense_Mutation_p.R82C NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 170 Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) CAATATTGAACGCTATCTTAA 0.303000 32 90 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104062046 104062046 + Missense_Mutation SNP A A T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr4:104062046A>T ENST00000265148.3 - 36 5768 c.5679T>A c.(5677-5679)aaT>aaA p.N1893K CENPE_ENST00000380026.3_Missense_Mutation_p.N1868K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1893 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CTCTTCTTAGATTATCTCTTT 0.363000 73 3 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83926315 83926315 + Splice_Site SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr6:83926315C>T ENST00000369705.3 - 13 1566 c.1449_splice c.e13-1 p.V484_splice ME1_ENST00000543031.1_Splice_Site_p.V409_splice|ME1_ENST00000541327.1_Splice_Site_p.V318_splice NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 484 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TGAGCTATAACCTTATGAAAA 0.358000 21 20 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39835373 39835373 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr6:39835373C>T ENST00000538976.1 + 6 698 c.516C>T c.(514-516)cgC>cgT p.R172R DAAM2_ENST00000398904.2_Silent_p.R172R|DAAM2_ENST00000274867.4_Silent_p.R172R NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 172 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) GTGAGAGCCGCATCCACACCT 0.552000 18 161 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19284792 19284792 + Missense_Mutation SNP G G T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr17:19284792G>T ENST00000308406.5 + 4 1656 c.1270G>T c.(1270-1272)Gct>Tct p.A424S MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A424S|MAPK7_ENST00000299612.7_Missense_Mutation_p.A285S|MAPK7_ENST00000395604.3_Missense_Mutation_p.A424S NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 424 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CAGTCCCTGGGCTCCCAGTGG 0.632000 11 46 9.70103e-10 1.00042e-09 1 1 0 MRPS7 51081 broad.mit.edu 37 17 73258479 73258479 + Silent SNP C C T rs6501772 by1000genomes TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr17:73258479C>T ENST00000579002.1 + 1 487 c.72C>T c.(70-72)tcC>tcT p.S24S MRPS7_ENST00000245539.6_Intron|MRPS7_ENST00000579761.1_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 0 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CGCGCCGCTCCCCCTCGTCGG 0.597000 4 57 0 0 1 0 0 CDIP1 29965 broad.mit.edu 37 16 4564112 4564112 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:4564112G>A ENST00000399599.3 - 2 568 c.20C>T c.(19-21)cCt>cTt p.P7L CDIP1_ENST00000562334.1_Missense_Mutation_p.P7L|CDIP1_ENST00000563332.2_Missense_Mutation_p.P7L|CDIP1_ENST00000563507.1_Missense_Mutation_p.P7L|CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000567695.1_Missense_Mutation_p.P7L cell death-inducing p53 target 1 AGGATAAGGAGGGGGAGGCTC 0.597000 3 14 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42320573 42320573 + Missense_Mutation SNP A A G TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr8:42320573A>G ENST00000342228.3 - 4 835 c.466T>C c.(466-468)Ttc>Ctc p.F156L SLC20A2_ENST00000520179.1_Missense_Mutation_p.F156L|SLC20A2_ENST00000520262.1_Missense_Mutation_p.F156L NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 156 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCAGACATGAAACCAGACAAC 0.303000 23 81 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20412607 20412607 + Missense_Mutation SNP C C G TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr1:20412607C>G ENST00000375108.3 + 3 340 c.72C>G c.(70-72)gaC>gaG p.D24E PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 24 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) GCTTGCTGGACCTAAAATCAA 0.602000 21 26 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307516 46307516 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr3:46307516C>T ENST00000357422.2 + 4 1410 c.867C>T c.(865-867)atC>atT p.I289I CCR3_ENST00000395942.2_Silent_p.I289I|CCR3_ENST00000545097.1_Silent_p.I310I|CCR3_ENST00000541018.1_Silent_p.I289I|CCR3_ENST00000395940.2_Silent_p.I289I P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 289 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CAGAGGTGATCGCCTACTCCC 0.522000 22 57 0 0 1 0 0 OR1D4 653166 broad.mit.edu 37 17 3144312 3144312 + RNA SNP C C A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr17:3144312C>A ENST00000531680.1 + 0 343 NR_033795.1 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) CAACCTCATCCTGGCCGTGAT 0.567000 19 53 7.92952e-12 8.35131e-12 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17122306 17122306 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:17122306C>T ENST00000443236.1 - 5 626 c.595G>A c.(595-597)Gtc>Atc p.V199I CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I|CTD-2528A14.1_ENST00000595134.1_RNA NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 152 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TTTGGAGAGACGGTGAAGATG 0.587000 80 61 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090379 9090379 + Missense_Mutation SNP G G T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:9090379G>T ENST00000397910.4 - 1 1639 c.1436C>A c.(1435-1437)cCa>cAa p.P479Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 479 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCTCTTGTTGGGTGGGATGA 0.552000 36 153 6.84511e-11 7.13333e-11 1 1 0 LIPG 9388 broad.mit.edu 37 18 47095863 47095863 + Silent SNP G G C TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr18:47095863G>C ENST00000261292.4 + 4 794 c.516G>C c.(514-516)gcG>gcC p.A172A LIPG_ENST00000577628.1_Silent_p.A208A|LIPG_ENST00000580036.1_Silent_p.A172A|LIPG_ENST00000427224.2_Silent_p.A172A NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 172 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GCCTCGGAGCGCACGTGGCCG 0.542000 5 23 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53056854 53056854 + Missense_Mutation SNP A A G TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:53056854A>G ENST00000359798.4 + 5 865 c.685A>G c.(685-687)Aaa>Gaa p.K229E NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CATGAGAGAAAAATCTTTCCC 0.368000 168 110 0 0 1 0 0 BEND6 221336 broad.mit.edu 37 6 56882033 56882033 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr6:56882033G>A ENST00000370746.3 + 5 817 c.548G>A c.(547-549)cGt>cAt p.R183H BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.R85H NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 183 BEN. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 CAGATTGCCCGTTGTAACAAG 0.363000 6 49 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715411 68715411 + Nonsense_Mutation SNP G G T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr5:68715411G>T ENST00000325631.5 + 2 273 c.199G>T c.(199-201)Gaa>Taa p.E67* MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.E67* NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 67 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) AAGTGACACAGAAGAACCAGC 0.532000 45 57 1.41504e-22 1.61021e-22 1 1 0 SASS6 163786 broad.mit.edu 37 1 100568566 100568566 + Missense_Mutation SNP G G T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr1:100568566G>T ENST00000287482.5 - 14 1759 c.1619C>A c.(1618-1620)aCc>aAc p.T540N SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.T373N NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 540 centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) ATGAGGGAAGGTATTCTGGAA 0.388000 25 38 1.17739e-12 1.26698e-12 1 1 0 JAKMIP3 282973 broad.mit.edu 37 10 133948572 133948572 + Silent SNP C C A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr10:133948572C>A ENST00000298622.4 + 4 1015 c.877C>A c.(877-879)Cgg>Agg p.R293R NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AAAAGATGCCCGGCGCTTCCA 0.502000 38 3 1.04594e-18 1.16346e-18 1 1 0 TCTEX1D1 200132 broad.mit.edu 37 1 67220356 67220356 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr1:67220356C>T ENST00000282670.2 + 2 143 c.15C>T c.(13-15)gaC>gaT p.D5D TCTEX1D1_ENST00000491611.1_3'UTR NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 5 large_intestine(2)|lung(10)|skin(1) 13 TGATGTCAGACAATGCTAAAG 0.363000 24 33 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170046 90170046 + Missense_Mutation SNP G G A rs35246727 byFrequency TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr4:90170046G>A ENST00000333209.3 - 2 1734 c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 406 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TTATTTTCCCGTTGGAAAGCT 0.532000 45 119 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2760808 2760808 + Silent SNP C C T rs150092451 by1000genomes TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr12:2760808C>T ENST00000399655.1 + 32 4213 c.3948C>T c.(3946-3948)aaC>aaT p.N1316N CACNA1C_ENST00000399603.1_Silent_p.N1316N|CACNA1C_ENST00000399641.1_Silent_p.N1316N|CACNA1C_ENST00000406454.3_Silent_p.N1316N|CACNA1C_ENST00000402845.3_Silent_p.N1316N|CACNA1C_ENST00000335762.5_Silent_p.N1341N|CACNA1C_ENST00000399617.1_Silent_p.N1316N|CACNA1C_ENST00000399595.1_Silent_p.N1305N|CACNA1C_ENST00000399638.1_Silent_p.N1344N|CACNA1C_ENST00000399591.1_Silent_p.N1305N|CACNA1C_ENST00000399597.1_Silent_p.N1316N|CACNA1C_ENST00000344100.3_Silent_p.N1338N|CACNA1C_ENST00000399637.1_Silent_p.N1316N|CACNA1C_ENST00000399621.1_Silent_p.N1316N|CACNA1C_ENST00000347598.4_Silent_p.N1364N|CACNA1C_ENST00000399629.1_Silent_p.N1333N|CACNA1C_ENST00000399606.1_Silent_p.N1336N|CACNA1C_ENST00000399649.1_Silent_p.N1303N|CACNA1C_ENST00000327702.7_Silent_p.N1316N|CACNA1C_ENST00000399634.1_Silent_p.N1316N|CACNA1C_ENST00000399644.1_Silent_p.N1316N|CACNA1C_ENST00000399601.1_Silent_p.N1316N NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1364 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.N851N(1)|p.N1394N(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGTTCCAGAACGCAGAGGAAA 0.617000 12 68 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105147056 105147056 + Silent SNP C C A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr10:105147056C>A ENST00000369839.3 + 9 1977 c.1954C>A c.(1954-1956)Cgg>Agg p.R652R TAF5_ENST00000351396.4_Silent_p.R597R NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 652 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CAGAACTGTGCGGCTCTGGGA 0.433000 58 3 3.89483e-19 4.38168e-19 1 1 0 MAP2K1 5604 broad.mit.edu 37 15 66729163 66729163 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr15:66729163C>T ENST00000307102.5 + 3 902 c.371C>T c.(370-372)cCg>cTg p.P124L NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TGCAACTCTCCGTACATCGTG 0.512000 40 60 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24291186 24291186 + Silent SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr6:24291186G>A ENST00000378454.3 - 5 979 c.678C>T c.(676-678)gaC>gaT p.D226D NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 226 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TCGTTGACTTGTCAAAAAGTA 0.428000 27 58 0 0 1 0 0 BRF1 2972 broad.mit.edu 37 14 105678483 105678483 + Silent SNP A A G TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr14:105678483A>G ENST00000546474.1 - 16 16750 c.1791T>C c.(1789-1791)tcT>tcC p.S597S BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Silent_p.S393S|BRF1_ENST00000440513.3_Silent_p.S504S|BRF1_ENST00000379937.2_Silent_p.S570S|BRF1_ENST00000327359.3_Silent_p.S482S|BRF1_ENST00000446501.2_Silent_p.S359S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Silent_p.S123S NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 597 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CTGGCTGCGTAGACACCAGAG 0.627000 9 19 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80164222 80164222 + Missense_Mutation SNP C C A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr14:80164222C>A ENST00000281127.7 + 4 1730 c.851C>A c.(850-852)aCc>aAc p.T284N NRXN3_ENST00000557594.1_Missense_Mutation_p.T284N|NRXN3_ENST00000335750.5_Missense_Mutation_p.T916N|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.T314N|NRXN3_ENST00000554719.1_Missense_Mutation_p.T916N|NRXN3_ENST00000556003.1_Intron NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 284 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTCATGGAAACCACTACTACA 0.448000 37 58 2.6416e-12 2.81203e-12 1 1 0 RBM34 23029 broad.mit.edu 37 1 235301434 235301434 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr1:235301434C>T ENST00000408888.3 - 7 987 c.757G>A c.(757-759)Gag>Aag p.E253K RBM34_ENST00000366606.3_Missense_Mutation_p.E248K P42696 RBM34_HUMAN RNA binding motif protein 34 253 RRM 1. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) GCAGCACTCTCCTCCTTAAAC 0.318000 7 60 0 0 1 0 0 SEC11C 90701 broad.mit.edu 37 18 56819782 56819782 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr18:56819782C>T ENST00000587834.1 + 3 684 c.212C>T c.(211-213)cCg>cTg p.P71L SEC11C_ENST00000588875.1_Missense_Mutation_p.P71L NM_033280.2 NP_150596.1 Q9BY50 SC11C_HUMAN SEC11 homolog C (S. cerevisiae) 71 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity endometrium(1)|large_intestine(4)|liver(2)|lung(2) 9 Colorectal(73;0.175) AGTATGGAGCCGGCCTTTCAC 0.453000 77 164 0 0 1 0 0 GPBP1 65056 broad.mit.edu 37 5 56558492 56558492 + Silent SNP G G A rs147297567 TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr5:56558492G>A ENST00000424459.3 + 13 2669 c.1395G>A c.(1393-1395)ccG>ccA p.P465P GPBP1_ENST00000264779.6_Silent_p.P452P|GPBP1_ENST00000514387.2_Silent_p.P274P|GPBP1_ENST00000538707.1_Silent_p.P452P|GPBP1_ENST00000511209.1_Silent_p.P437P|GPBP1_ENST00000454432.2_Silent_p.P465P|GPBP1_ENST00000506184.2_Silent_p.P445P NM_022913.3 NP_075064.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AGTTTGGACCGTGGAAGAACA 0.368000 54 65 0 0 1 0 0 SYTL3 94120 broad.mit.edu 37 6 159181747 159181747 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr6:159181747C>T ENST00000297239.9 + 14 1578 c.1384C>T c.(1384-1386)Cgg>Tgg p.R462W SYTL3_ENST00000360448.3_Missense_Mutation_p.R394W|SYTL3_ENST00000367081.3_Missense_Mutation_p.R188W Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 462 intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TCTCCCTTCACGGCCCAGAAA 0.562000 22 24 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148921667 148921667 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr7:148921667C>T ENST00000262085.3 + 8 2049 c.1944C>T c.(1942-1944)caC>caT p.H648H ZNF282_ENST00000479907.1_3'UTR NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 648 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) TCAAGGACCACCTGCGCGTGC 0.726000 6 26 0 0 1 0 0 KIAA1328 57536 broad.mit.edu 37 18 34802054 34802054 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr18:34802054C>T ENST00000591619.1 + 10 2372 c.1586C>T c.(1585-1587)tCc>tTc p.S529F KIAA1328_ENST00000543923.1_Missense_Mutation_p.S425F|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000280020.5_Missense_Mutation_p.S533F Q86T90 K1328_HUMAN KIAA1328 533 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) CGCTATCCCTCCAGAGAAGCT 0.502000 11 11 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56204417 56204417 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr18:56204417G>A ENST00000361673.3 - 5 3215 c.3002C>T c.(3001-3003)gCg>gTg p.A1001V RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1001 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTCCCTGGTCGCTTGAAAGCA 0.488000 8 77 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724873 138724873 + Missense_Mutation SNP G G C TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr3:138724873G>C ENST00000383163.2 - 1 237 c.238C>G c.(238-240)Ctg>Gtg p.L80V MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 80 endometrium(3)|kidney(1)|lung(7) 11 GGGAGCTCCAGCACCAGGTCG 0.677000 10 6 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73089706 73089706 + Missense_Mutation SNP G G A rs4789134 by1000genomes TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr17:73089706G>A ENST00000538213.2 + 2 223 c.95G>A c.(94-96)aGg>aAg p.R32K SLC16A5_ENST00000329783.4_5'UTR|SLC16A5_ENST00000580123.1_5'UTR|SLC16A5_ENST00000450736.2_5'UTR|SLC16A5_ENST00000585293.1_3'UTR O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 0 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) TTGGCAGTGAGGCCGTGGCAG 0.687000 3 23 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10542464 10542464 + Missense_Mutation SNP G G T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr17:10542464G>T ENST00000583535.1 - 25 3232 c.3145C>A c.(3145-3147)Ctg>Atg p.L1049M MYH3_ENST00000226209.7_Missense_Mutation_p.L1049M NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1049 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTCCTTTCCAGGTCTACTCGG 0.453000 19 49 5.3912e-06 5.50236e-06 1 1 0 SULF2 55959 broad.mit.edu 37 20 46313216 46313216 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr20:46313216G>A ENST00000359930.4 - 6 1698 c.847C>T c.(847-849)Cgc>Tgc p.R283C SULF2_ENST00000467815.1_Missense_Mutation_p.R283C|SULF2_ENST00000361612.4_Missense_Mutation_p.R283C|SULF2_ENST00000484875.1_Missense_Mutation_p.R283C|CTD-2653D5.1_ENST00000526566.2_RNA NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 283 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GTCTGCAAGCGCTTCCGCTGG 0.627000 16 15 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179472600 179472600 + Missense_Mutation SNP C C G TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr3:179472600C>G ENST00000263966.3 + 15 2350 c.1879C>G c.(1879-1881)Cca>Gca p.P627A USP13_ENST00000496897.1_Missense_Mutation_p.P562A|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 627 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GGAAGAACTTCCAGACATCAG 0.483000 56 81 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30663152 30663152 + Missense_Mutation SNP T T C TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:30663152T>C ENST00000542965.2 + 2 515 c.59T>C c.(58-60)cTg>cCg p.L20P PRR14_ENST00000300835.4_Missense_Mutation_p.L20P Q9BWN1 PRR14_HUMAN proline rich 14 20 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CGCCAGCCTCTGACTCGAGCA 0.687000 27 81 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13910714 13910714 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:13910714G>A ENST00000254323.2 + 2 523 c.334G>A c.(334-336)Gtg>Atg p.V112M NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 112 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GAGCGGGGCCGTGGACCGCGT 0.652000 13 43 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131859615 131859615 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr7:131859615C>T ENST00000359827.3 - 21 4901 c.3939G>A c.(3937-3939)ccG>ccA p.P1313P PLXNA4_ENST00000321063.4_Silent_p.P1313P Q9HCM2 PLXA4_HUMAN plexin A4 1313 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGTCCAGGAACGGAATCCCGG 0.572000 23 186 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54803979 54803979 + Missense_Mutation SNP A A C TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr15:54803979A>C ENST00000545554.1 + 23 5408 c.5408A>C c.(5407-5409)cAa>cCa p.Q1803P UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1801P|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1803P Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1803 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATATTCAACAATTGCGGGTC 0.308000 5 28 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171509966 171509966 + Splice_Site SNP T T G rs146527200 byFrequency TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr5:171509966T>G ENST00000176763.5 - 11 2151 c.1809_splice c.e11+1 p.N603_splice NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 603 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGCACTCACGTTGATTTCCTG 0.502000 6 126 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53243524 53243524 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:53243524G>A ENST00000566029.1 + 3 1792 c.1583G>A c.(1582-1584)cGt>cAt p.R528H CHD9_ENST00000398510.3_Missense_Mutation_p.R528H|CHD9_ENST00000564845.1_Missense_Mutation_p.R528H|CHD9_ENST00000447540.1_Missense_Mutation_p.R528H Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 528 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AAGGCTAATCGTATAATATCA 0.438000 42 51 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45003745 45003745 + Translation_Start_Site SNP A A T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr15:45003745A>T ENST00000558401.1 + 1 71 c.1A>T c.(1-3)Atg>Ttg p.M1L B2M_ENST00000544417.1_Start_Codon_SNP_p.M1L|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1L NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 1 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.M1L(3)|p.M1V(2)|p.?(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TCGGGCCGAGATGTCTCGCTC 0.612000 38 34 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33944587 33944587 + Nonsense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr9:33944587G>A ENST00000379238.1 - 14 1438 c.1321C>T c.(1321-1323)Cga>Tga p.R441* UBAP2_ENST00000418786.2_Nonsense_Mutation_p.R388*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.R196*|UBAP2_ENST00000379225.1_Nonsense_Mutation_p.R74*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.R174*|UBAP2_ENST00000360802.1_Nonsense_Mutation_p.R441*|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.R441* Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 441 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGCTGTTGTCGCTGGCTCAAC 0.483000 24 1 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132637641 132637641 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr9:132637641G>A ENST00000315480.4 + 20 2259 c.2101G>A c.(2101-2103)Gcc>Acc p.A701T USP20_ENST00000372429.3_Missense_Mutation_p.A701T|USP20_ENST00000358355.1_Missense_Mutation_p.A701T Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 701 DUSP 1. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GTCCCTGGCCGCCATGCGGGA 0.662000 19 15 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69354045 69354045 + Splice_Site SNP C C A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:69354045C>A ENST00000254950.11 + 7 778 c.620_splice c.e7-1 p.L208_splice COG8_ENST00000564419.1_5'UTR|RP11-343C2.3_ENST00000570054.2_Splice_Site_p.L232_splice|VPS4A_ENST00000569775.1_Intron NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 208 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) CCTTCACAGGCTGGTCAAGAA 0.592000 6 12 8.12818e-05 8.12818e-05 1 1 0 CES3 23491 broad.mit.edu 37 16 67000765 67000765 + Silent SNP C C A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:67000765C>A ENST00000303334.4 + 8 1130 c.1059C>A c.(1057-1059)ccC>ccA p.P353P CES3_ENST00000394037.1_Silent_p.P353P NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 353 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGCTCATCCCCAGGGTGAGTT 0.592000 58 76 3.76997e-23 4.33985e-23 1 1 0 GNAQ 2776 broad.mit.edu 37 9 80537210 80537210 + Missense_Mutation SNP T T C TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr9:80537210T>C ENST00000286548.4 - 2 410 c.188A>G c.(187-189)cAt>cGt p.H63R NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 63 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 TCCTGACCCATGGATGATTCT 0.483000 Mis uveal melanoma 27 91 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54385775 54385775 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:54385775C>T ENST00000263431.3 + 1 309 c.27C>T c.(25-27)ggC>ggT p.G9G PRKCG_ENST00000540413.1_Silent_p.G9G|PRKCG_ENST00000536044.1_Silent_p.G9G NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 9 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCGGCGTAGGCGATTCAGAGG 0.627000 61 130 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631137 32631137 + Missense_Mutation SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr9:32631137G>A ENST00000242310.4 - 1 4530 c.4441C>T c.(4441-4443)Cca>Tca p.P1481S NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1481 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAATGTTTTGGCCCATTGTAG 0.418000 59 43 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44549983 44549983 + Nonsense_Mutation SNP G G C TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr2:44549983G>C ENST00000541738.1 - 12 2026 c.1640C>G c.(1639-1641)tCa>tGa p.S547* PREPL_ENST00000409411.1_Nonsense_Mutation_p.S547*|PREPL_ENST00000378520.3_Nonsense_Mutation_p.S570*|PREPL_ENST00000260648.6_Nonsense_Mutation_p.S636*|PREPL_ENST00000409936.1_Nonsense_Mutation_p.S636*|PREPL_ENST00000410081.1_Nonsense_Mutation_p.S636*|PREPL_ENST00000409957.1_Nonsense_Mutation_p.S547*|PREPL_ENST00000378511.3_Nonsense_Mutation_p.S574*|PREPL_ENST00000409272.1_Nonsense_Mutation_p.S636* NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 636 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TATGTGAATTGAAGGATAATG 0.373000 64 82 0 0 1 0 0 NPEPL1 79716 broad.mit.edu 37 20 57288496 57288496 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr20:57288496C>T ENST00000356091.6 + 9 1310 c.1022C>T c.(1021-1023)aCg>aTg p.T341M NPEPL1_ENST00000525967.1_Missense_Mutation_p.T313M|NPEPL1_ENST00000525817.1_Missense_Mutation_p.T293M|STX16-NPEPL1_ENST00000530122.1_3'UTR NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 341 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) ATCAACAACACGGATGCCGAG 0.622000 4 7 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149545315 149545315 + Missense_Mutation SNP C C A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr7:149545315C>A ENST00000223210.4 + 4 978 c.733C>A c.(733-735)Cca>Aca p.P245T NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 ATTCTACCCCCCAGGGCCTCT 0.587000 26 11 9.39395e-14 1.02198e-13 1 1 0 ARID4B 51742 broad.mit.edu 37 1 235338527 235338527 + Silent SNP G G A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr1:235338527G>A ENST00000264183.3 - 22 4133 c.3636C>T c.(3634-3636)ccC>ccT p.P1212P ARID4B_ENST00000366603.2_Silent_p.P1212P|ARID4B_ENST00000349213.3_Silent_p.P1126P NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 1212 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TGTAAACTTTGGGTAATCGAT 0.373000 85 152 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004671 102004671 + Missense_Mutation SNP G G T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chrX:102004671G>T ENST00000372735.1 + 4 1333 c.748G>T c.(748-750)Gcc>Tcc p.A250S BHLHB9_ENST00000457056.1_Missense_Mutation_p.A250S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A250S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A250S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A250S Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 250 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TATTGTTCTGGCCTCCGCTGA 0.522000 60 7 4.6707e-30 5.43999e-30 1 1 0 RANBP6 26953 broad.mit.edu 37 9 6013624 6013624 + Missense_Mutation SNP C C T rs61758806 byFrequency TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr9:6013624C>T ENST00000259569.5 - 1 1994 c.1984G>A c.(1984-1986)Gat>Aat p.D662N RANBP6_ENST00000485372.1_5'UTR NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 662 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) CAGCCATCATCGTCACTCATA 0.413000 5 70 0 0 1 0 0 TPTEP1 387590 broad.mit.edu 37 22 17117967 17117967 + RNA SNP T T A TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr22:17117967T>A ENST00000426585.1 + 0 267 AATTATATCATCCTTTGCATT 0.348000 7 45 0 0 1 0 0 ADAT3 113179 broad.mit.edu 37 19 1912852 1912852 + Missense_Mutation SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:1912852C>T ENST00000329478.2 + 2 1026 c.806C>T c.(805-807)cCg>cTg p.P269L SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000602400.1_Missense_Mutation_p.P253L|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000414057.2_Intron Q96EY9 ADAT3_HUMAN adenosine deaminase, tRNA-specific 3 253 tRNA processing hydrolase activity|zinc ion binding breast(1)|kidney(3)|pancreas(1)|skin(2) 7 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTTCGCCCCGGCCGCTGCC 0.721000 9 12 0 0 1 0 0 SYNGR1 9145 broad.mit.edu 37 22 39777745 39777745 + Silent SNP C C T TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr22:39777745C>T ENST00000328933.5 + 4 543 c.528C>T c.(526-528)gcC>gcT p.A176A NM_004711.4 NP_004702.2 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) AGATTGGCGCCGACTCGGCCC 0.682000 35 41 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3281229 3281229 + Silent SNP C C T rs139670443 byFrequency TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:3281229C>T ENST00000541430.2 + 6 672 c.636C>T c.(634-636)gcC>gcT p.A212A CELF5_ENST00000292672.2_Silent_p.A212A NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 212 RRM 2. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TCAAGTTCGCCGACACGGACA 0.677000 18 98 0 0 1 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116648 121116648 + RNA DEL A A - TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr1:121116648delA ENST00000437515.1 - 0 329 GCCCCCCTTTAAAAAAAAAGG 0.398 13 140 --- --- --- --- SUCLG1 8802 broad.mit.edu 37 2 84658735 84658736 + Frame_Shift_Del DEL TC TC - rs145106503 TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr2:84658735_84658736delTC ENST00000393868.2 - 7 931_932 c.721_722delGA c.(721-723)afs p.E241fs SUCLG1_ENST00000491123.1_5'UTR NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 241 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity p.E241K(1) kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) CAAAAAGATTTCGAGGCAGTCA 0.361 35 121 --- --- --- --- VIL1 7429 broad.mit.edu 37 2 219290373 219290379 + Frame_Shift_Del DEL CCACTAC CCACTAC - TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr2:219290373_219290379delCCACTAC ENST00000248444.5 + 4 274_280 c.186_192delCCACTAC c.(184-192)atfs p.IHY62fs VIL1_ENST00000440053.1_Frame_Shift_Del_p.IHY62fs|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 62 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTATGACATCCACTACTGGATTGGCC 0.599 21 40 --- --- --- --- MTIF3 219402 broad.mit.edu 37 13 28011285 28011288 + Frame_Shift_Del DEL CTTT CTTT - TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr13:28011285_28011288delCTTT ENST00000381116.1 - 6 817_820 c.583_586delAAAG c.(583-588)gafs p.KG195fs MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Frame_Shift_Del_p.KG195fs|MTIF3_ENST00000405591.2_Frame_Shift_Del_p.KG195fs|MTIF3_ENST00000431572.2_Frame_Shift_Del_p.KG195fs Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 195 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) ACATTTTTTCCTTTCTTTATGGTA 0.353 15 69 --- --- --- --- B2M 567 broad.mit.edu 37 15 45003786 45003789 + Frame_Shift_Del DEL TCTT TCTT - TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr15:45003786_45003789delTCTT ENST00000558401.1 + 1 112_115 c.42_45delTCTT c.(40-45)tcfs p.SL14fs B2M_ENST00000559916.1_Frame_Shift_Del_p.SL14fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.SL14fs NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 14 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.L15fs*41(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) CGCTACTCTCTCTTTCTGGCCTGG 0.623 32 55 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546141 3546141 + RNA DEL A A - rs74546027 TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:3546141delA ENST00000574423.2 + 0 111 actccgtctcaaaaaaaaaaa 0.557 3 4 --- --- --- --- LOC101927978 101927978 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 2 4 --- --- --- --- SLC27A1 376497 broad.mit.edu 37 19 17597456 17597456 + Frame_Shift_Del DEL G G - TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:17597456delG ENST00000252595.7 + 2 349 c.252delG c.(250-252)gcfs p.A84fs SLC27A1_ENST00000442725.1_Frame_Shift_Del_p.A84fs|SLC27A1_ENST00000598424.1_5'UTR NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 84 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCTTTCAGGCGGTAGTGCAGC 0.697 12 9 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-ER-A42H-01A-11D-A24R-08 TCGA-ER-A42H-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d688f07-6fb3-48f6-bcb3-348ae833a006 6e7c6102-f761-4eaf-bb7f-50f878f889d6 g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 3 6 --- --- --- ---