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 MYLK2 85366 broad.mit.edu 37 20 30409489 30409489 + Missense_Mutation SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr20:30409489G>A ENST00000375994.2 + 3 994 c.721G>A c.(721-723)Ggg>Agg p.G241R MYLK2_ENST00000375985.4_Missense_Mutation_p.G241R Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 241 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ATCCGAGGTGGGGCAGGCCCT 0.652000 45 59 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1895812 1895812 + Missense_Mutation SNP G G T TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr20:1895812G>T ENST00000358771.4 + 2 299 c.147G>T c.(145-147)gaG>gaT p.E49D SIRPA_ENST00000356025.3_Missense_Mutation_p.E49D|SIRPA_ENST00000400068.3_Missense_Mutation_p.E49D NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 49 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CAGCTGGAGAGACAGCCACTC 0.552000 15 22 1.3612e-06 1.42452e-06 1 1 0 SLC45A2 51151 broad.mit.edu 37 5 33944917 33944917 + Missense_Mutation SNP C C T TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr5:33944917C>T ENST00000296589.4 - 7 1575 c.1429G>A c.(1429-1431)Gcc>Acc p.A477T SLC45A2_ENST00000342059.3_Missense_Mutation_p.A418T NM_016180.3 NP_057264.3 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 477 A -> T (in OCA4). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane p.A477T(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 GTGAGGGTGGCGCAGTCCATG 0.607000 10 10 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157666001 157666001 + Missense_Mutation SNP A A G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr1:157666001A>G ENST00000368184.3 - 7 1252 c.961T>C c.(961-963)Tcc>Ccc p.S321P FCRL3_ENST00000368186.5_Missense_Mutation_p.S321P|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 321 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TTGTGCCAGGAGAATGTGACA 0.522000 33 60 0 0 1 0 0 PCDHGC4 0 broad.mit.edu 37 5 140865402 140865402 + Missense_Mutation SNP C C T TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr5:140865402C>T ENST00000306593.1 + 1 662 c.662C>T c.(661-663)cCg>cTg p.P221L PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAACCCGCCGAGATCTGGC 0.602000 11 18 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112528660 112528660 + Silent SNP C C T TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr12:112528660C>T ENST00000261745.4 - 3 401 c.153G>A c.(151-153)aaG>aaA p.K51K NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 51 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AACCAATTGCCTTTAAAACCT 0.398000 33 47 0 0 1 0 0 SLC25A32 81034 broad.mit.edu 37 8 104413832 104413832 + Missense_Mutation SNP T T C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr8:104413832T>C ENST00000297578.4 - 6 890 c.724A>G c.(724-726)Aca>Gca p.T242A SLC25A32_ENST00000543107.1_Missense_Mutation_p.T110A|SLC25A32_ENST00000523701.1_5'UTR NM_030780.3 NP_110407.2 Q9H2D1 MFTC_HUMAN solute carrier family 25 (mitochondrial folate carrier), member 32 242 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 9 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) TATGGGTATGTTGCTGCGACA 0.378000 21 92 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61585257 61585257 + Missense_Mutation SNP A A G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr18:61585257A>G ENST00000238508.3 + 4 352 c.293A>G c.(292-294)gAa>gGa p.E98G NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CTTATCTCAGAAATCCTCAAG 0.348000 22 42 0 0 1 0 0 RPS2 6187 broad.mit.edu 37 16 2014492 2014492 + Silent SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr16:2014492G>A ENST00000529806.1 - 1 321 c.135C>T c.(133-135)ggC>ggT p.G45G RPS2_ENST00000343262.4_Silent_p.G45G|RPS2_ENST00000530225.1_Silent_p.G45G|RPS2_ENST00000526522.1_Silent_p.G45G P15880 RS2_HUMAN ribosomal protein S2 45 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 CGCGGCCTCGGCCCCGGCCCC 0.766000 11 7 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183486931 183486931 + Missense_Mutation SNP G G C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr1:183486931G>C ENST00000367537.3 + 5 570 c.375G>C c.(373-375)gaG>gaC p.E125D SMG7_ENST00000456731.2_Missense_Mutation_p.E54D|SMG7_ENST00000515829.2_Missense_Mutation_p.E96D|SMG7_ENST00000508461.1_Missense_Mutation_p.E54D|SMG7_ENST00000507469.1_Missense_Mutation_p.E96D|SMG7_ENST00000347615.2_Missense_Mutation_p.E96D Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 96 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TGTTCCTAGAGGCAGCTAGTG 0.423000 36 52 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64876773 64876773 + Missense_Mutation SNP C C T rs149159754 TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr17:64876773C>T ENST00000533854.1 + 4 620 c.383C>T c.(382-384)aCg>aTg p.T128M CACNG5_ENST00000169565.3_Missense_Mutation_p.T128M|CACNG5_ENST00000307139.3_Missense_Mutation_p.T128M Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 128 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CCCCACCGGACGATACTGGCC 0.448000 5 158 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 3 57 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16816175 16816175 + Missense_Mutation SNP G G C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr11:16816175G>C ENST00000355661.3 - 19 2615 c.2605C>G c.(2605-2607)Ccc>Gcc p.P869A PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P869A|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P869A Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 869 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGGCTGGTGGGAGGACTGGGC 0.602000 3 82 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 9 75 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457441 159457441 + Silent SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr6:159457441G>A ENST00000367066.3 - 10 1945 c.1614C>T c.(1612-1614)caC>caT p.H538H RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Silent_p.H360H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 538 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCCTCGGGACGTGGTCCCTGG 0.547000 5 62 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 7 26 4.3838e-07 4.69693e-07 1 1 0 UTP20 27340 broad.mit.edu 37 12 101773277 101773277 + Missense_Mutation SNP A A G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr12:101773277A>G ENST00000261637.4 + 57 7699 c.7525A>G c.(7525-7527)Aaa>Gaa p.K2509E NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2509 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CAAAAAGACCAAAAAACACCT 0.453000 25 42 0 0 1 0 0 MZT2B 80097 broad.mit.edu 37 2 130948170 130948170 + Missense_Mutation SNP G G C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr2:130948170G>C ENST00000281871.6 + 3 803 c.448G>C c.(448-450)Ggg>Cgg p.G150R MZT2B_ENST00000409255.1_Missense_Mutation_p.G210R NM_025029.3 NP_079305.2 Q6NZ67 MZT2B_HUMAN mitotic spindle organizing protein 2B 150 centrosome|gamma-tubulin ring complex|spindle protein binding lung(1) 1 GGGCGGGCCTGGGAAGAGCCC 0.612000 34 9 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2115841 2115841 + Missense_Mutation SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr9:2115841G>A ENST00000382203.1 + 25 3685 c.3476G>A c.(3475-3477)cGa>cAa p.R1159Q SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1159Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1159 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GCCCAAGACCGAGCTCACCGC 0.577000 10 14 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 50 0 0 1 0 0 SLC16A4 9122 broad.mit.edu 37 1 110924399 110924399 + Missense_Mutation SNP A A C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr1:110924399A>C ENST00000369779.4 - 4 488 c.239T>G c.(238-240)aTt>aGt p.I80S SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I80S|SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I18S|SLC16A4_ENST00000472422.2_Intron NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 80 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) TATGTCACAAATAATAGCAAC 0.408000 19 22 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201287 24201287 + Missense_Mutation SNP C C G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr1:24201287C>G ENST00000536471.1 - 3 1079 c.821G>C c.(820-822)aGt>aCt p.S274T CNR2_ENST00000374472.4_Missense_Mutation_p.S274T P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 274 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GACCTGGTCACTGAGCGTAGT 0.572000 15 18 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234067 21234067 + Silent SNP A A G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr2:21234067A>G ENST00000233242.1 - 26 5800 c.5673T>C c.(5671-5673)caT>caC p.H1891H NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1891 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATTGCTGAAATGCAGTGAGT 0.488000 5 90 0 0 1 0 0 MLX 6945 broad.mit.edu 37 17 40723602 40723602 + Missense_Mutation SNP T T G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr17:40723602T>G ENST00000246912.4 + 8 931 c.878T>G c.(877-879)tTg>tGg p.L293W MLX_ENST00000346833.4_Missense_Mutation_p.L209W|MLX_ENST00000435881.2_Missense_Mutation_p.L239W NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein 293 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) CTGCACCAATTGAAAAACCAG 0.532000 18 120 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131073151 131073151 + Missense_Mutation SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr8:131073151G>A ENST00000357668.1 - 27 2893 c.2866C>T c.(2866-2868)Ccg>Tcg p.P956S ASAP1_ENST00000518721.1_Missense_Mutation_p.P956S Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 956 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding p.P956S(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 GGCTTAGGCGGCAAATCTCCA 0.572000 4 180 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220309783 220309783 + Missense_Mutation SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr2:220309783G>A ENST00000312358.7 + 3 847 c.715G>A c.(715-717)Gtg>Atg p.V239M SPEG_ENST00000396698.1_Missense_Mutation_p.V135M|SPEG_ENST00000396695.2_Intron NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 239 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCTAATCTGGTGGGCGCAAG 0.682000 4 1 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107314687 107314687 + Missense_Mutation SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr7:107314687G>A ENST00000265715.3 + 5 718 c.494G>A c.(493-495)aGc>aAc p.S165N NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 165 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CTCGTATCCAGCAGCAATGGA 0.463000 Pendred syndrome 41 36 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34081915 34081915 + Missense_Mutation SNP G G A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr18:34081915G>A ENST00000257209.4 + 4 480 c.358G>A c.(358-360)Gga>Aga p.G120R FHOD3_ENST00000590592.1_Missense_Mutation_p.G120R|FHOD3_ENST00000445677.1_Missense_Mutation_p.G120R|FHOD3_ENST00000359247.4_Missense_Mutation_p.G120R NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 120 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CAACTCCAGCGGACGAGATTT 0.323000 14 23 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211157 59211157 + Silent SNP C C T rs150991894 TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr11:59211157C>T ENST00000302030.2 + 1 541 c.516C>T c.(514-516)tgC>tgT p.C172C NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C172C(2) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TTCACTTTTGCGGACCCAACA 0.547000 5 233 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167170724 167170724 + Splice_Site SNP C C A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr3:167170724C>A ENST00000476257.1 - 7 1262 c.964_splice c.e7+1 p.D322_splice SERPINI2_ENST00000264677.4_Splice_Site_p.D322_splice|SERPINI2_ENST00000461846.1_Splice_Site_p.D322_splice|SERPINI2_ENST00000471111.1_Splice_Site_p.D322_splice O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 322 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 ATCATACTACCTGTTATTCCA 0.318000 25 71 1.64293e-13 1.80322e-13 1 1 0 CDH12 1010 broad.mit.edu 37 5 21752061 21752061 + Missense_Mutation SNP T T C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr5:21752061T>C ENST00000382254.1 - 15 3256 c.2170A>G c.(2170-2172)Aat>Gat p.N724D CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.N684D|CDH12_ENST00000504376.2_Missense_Mutation_p.N724D|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 724 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCCACATCATTTTCCTGTAGC 0.483000 HNSCC(59;0.17) 19 38 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087548 27087548 + Nonsense_Mutation SNP C C T TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr1:27087548C>T ENST00000324856.7 + 5 2493 c.2122C>T c.(2122-2124)Cag>Tag p.Q708* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q708*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q325* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 708 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q708*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGTGTTGCTCAGTCTCGCTC 0.592000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 37 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30885877 30885877 + Splice_Site SNP A A G TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr3:30885877A>G ENST00000454381.3 - 7 778 c.e7+1 GADL1_ENST00000282538.5_Splice_Site Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TGTTCCCATTACCTTCCATCT 0.393000 53 65 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399066 46399066 + Missense_Mutation SNP C C A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr3:46399066C>A ENST00000292301.4 + 2 533 c.48C>A c.(46-48)agC>agA p.S16R CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.S16R|CCR2_ENST00000445132.2_Missense_Mutation_p.S16R NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 16 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CCAACGAGAGCGGTGAAGAAG 0.463000 81 116 2.35497e-27 2.64934e-27 1 1 0 LINC00969 0 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 7 26 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198266834 198266834 + Missense_Mutation SNP T T C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr2:198266834T>C ENST00000335508.5 - 15 2189 c.2098A>G c.(2098-2100)Aaa>Gaa p.K700E SF3B1_ENST00000462613.1_5'UTR NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 700 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.K700E(179)|p.Q699_K700del(2) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTCCGAACTTTCTGCTGCTCA 0.408000 Mis myelodysplastic syndrome 23 24 0 0 1 0 0 CALB2 794 broad.mit.edu 37 16 71411574 71411574 + Missense_Mutation SNP C C T TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr16:71411574C>T ENST00000302628.4 + 4 343 c.266C>T c.(265-267)gCg>gTg p.A89V CALB2_ENST00000349553.5_Missense_Mutation_p.A89V NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 89 EF-hand 2. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) TCACAGCTGGCGCAGATCCTG 0.557000 6 41 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65175614 65175614 + Missense_Mutation SNP C C A TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr4:65175614C>A ENST00000381210.3 - 6 697 c.587G>T c.(586-588)cGa>cTa p.R196L TECRL_ENST00000507440.1_Missense_Mutation_p.R196L|TECRL_ENST00000513125.1_5'UTR NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 196 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.R196P(1) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CAAAAGGTATCGGATGTAGTG 0.343000 5 78 0.00198382 0.0020289 1 1 0 LCMT2 9836 broad.mit.edu 37 15 43622404 43622404 + Missense_Mutation SNP A A C TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr15:43622404A>C ENST00000305641.5 - 1 399 c.284T>G c.(283-285)cTc>cGc p.L95R LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 95 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GCGAAAATAGAGCGAGTCGAA 0.642000 16 29 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129924994 129924995 + Frame_Shift_Ins INS - - T TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr4:129924994_129924995insT ENST00000281142.5 - 6 830_831 c.327_328insA c.(325-330)aatggafs p.NG109fs SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 109 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AAGGCCTCCAATTTTTTTTCAA 0.381 7 88 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46287432 46287435 + Frame_Shift_Del DEL TAAC TAAC - TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr12:46287432_46287435delTAAC ENST00000334344.6 + 20 5463_5466 c.5291_5294delTAAC c.(5290-5295)atfs p.IT1764fs ARID2_ENST00000422737.1_Frame_Shift_Del_p.IT1615fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Del_p.IT372fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.IT1374fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1764 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GAGGGACCAATAACTAAACACATC 0.333 """N, S, F""" hepatocellular carcinoma 50 68 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061223 38061228 + In_Frame_Del DEL TCTCGA TCTCGA - TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr14:38061223_38061228delTCTCGA ENST00000250448.2 - 2 822_827 c.761_766delTCGAGA c.(760-768)tac>t p.FEN254del FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TAGCAGCCGTTCTCGAACATGTTGCC 0.689 11 12 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831173 72831189 + Frame_Shift_Del DEL GGGATGTAGAAAGGGAA GGGATGTAGAAAGGGAA - TCGA-2A-A8VX-01A-11D-A377-08 TCGA-2A-A8VX-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 957baedd-a3e5-4cc3-84bc-d96a98047c96 53b1cab7-43d1-4643-ac22-c93696c913ee g.chr16:72831173_72831189delGGGATGTAGAAAGGGAA ENST00000268489.5 - 9 6064_6080 c.5392_5408delTTCCCTTTCTACATCCC c.(5392-5409)cfs p.FPFYIP1798fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.FPFYIP884fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1798 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTCAGCACTGGGGATGTAGAAAGGGAAGAGGAGGTGC 0.576 20 37 --- --- --- ---