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 ADAM33 80332 broad.mit.edu 37 20 3651739 3651739 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:3651739G>A ENST00000356518.2 - 19 2395 c.2154C>T c.(2152-2154)gcC>gcT p.A718A ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Silent_p.A718A|ADAM33_ENST00000350009.2_Silent_p.A692A NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 718 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 AGGCCAGGCCGGCCCCTGGGA 0.677000 3 7 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166900521 166900521 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:166900521C>T ENST00000423058.2 - 11 1718 c.1701G>A c.(1699-1701)agG>agA p.R567R AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R567R|SCN1A_ENST00000375405.3_Silent_p.R567R|SCN1A_ENST00000303395.4_Silent_p.R567R|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 567 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGCTATTTCGCCTTGGTGAAA 0.418000 12 48 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35793372 35793372 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:35793372G>C ENST00000440995.2 + 32 4651 c.4651G>C c.(4651-4653)Gag>Cag p.E1551Q CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.E1556Q|SPEF2_ENST00000303129.4_Missense_Mutation_p.E353Q Q9C093 SPEF2_HUMAN sperm flagellar 2 1556 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAGCTCCTTGAGACCCTTCA 0.483000 13 77 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351216 146351216 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:146351216C>A ENST00000392299.2 + 2 1033 c.563C>A c.(562-564)aCa>aAa p.T188K GRM1_ENST00000355289.4_Missense_Mutation_p.T188K|GRM1_ENST00000507907.1_Missense_Mutation_p.T188K|GRM1_ENST00000492807.2_Missense_Mutation_p.T188K|GRM1_ENST00000361719.2_Missense_Mutation_p.T188K|GRM1_ENST00000282753.1_Missense_Mutation_p.T188K Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 188 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TATTCAGCCACAAGCATCGAC 0.522000 6 124 0.00307968 0.00324424 1 1 0 CACNA1F 778 broad.mit.edu 37 X 49066186 49066186 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:49066186G>A ENST00000376265.2 - 41 4818 c.4757C>T c.(4756-4758)aCa>aTa p.T1586I CACNA1F_ENST00000323022.5_Missense_Mutation_p.T1575I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.T1521I NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1586 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GATCAGAAATGTGGCGTAGAA 0.592000 6 31 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976631 34976631 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:34976631C>T ENST00000242315.3 + 5 825 c.743C>T c.(742-744)gCg>gTg p.A248V KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.A248V NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 248 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GAAGAGCAGGCGGCCCGCCAG 0.612000 4 69 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713834 70713834 + RNA SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:70713834G>A ENST00000530196.1 - 0 684 NR_003951.1 AACTGTTGGCGTGCTACTTCC 0.453000 6 60 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258564 16258564 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:16258564G>A ENST00000375759.3 + 11 6033 c.5829G>A c.(5827-5829)gcG>gcA p.A1943A NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1943 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGCTGCAGCGGTTCCCACCA 0.587000 10 57 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18275064 18275064 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:18275064G>A ENST00000251900.4 - 11 1519 c.1360C>T c.(1360-1362)Cac>Tac p.H454Y SCML2_ENST00000398048.3_Missense_Mutation_p.H190Y NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 454 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TGCAGACTGTGGCAGAAGTTC 0.468000 9 154 0 0 1 0 0 TEX264 51368 broad.mit.edu 37 3 51718507 51718507 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:51718507G>T ENST00000415259.1 + 3 1418 c.337G>T c.(337-339)Gac>Tac p.D113Y TEX264_ENST00000395057.1_Missense_Mutation_p.D113Y|TEX264_ENST00000341333.5_Missense_Mutation_p.D113Y|TEX264_ENST00000416589.1_Missense_Mutation_p.D113Y|TEX264_ENST00000457573.1_Missense_Mutation_p.D113Y|TEX264_ENST00000463857.1_3'UTR Q9Y6I9 TX264_HUMAN testis expressed 264 113 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TGAGCTCATCGACCTCTACCA 0.582000 11 47 7.03913e-09 9.43106e-09 1 1 0 ZNF510 22869 broad.mit.edu 37 9 99521573 99521573 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:99521573C>G ENST00000375231.1 - 6 2189 c.1539G>C c.(1537-1539)gaG>gaC p.E513D ZNF510_ENST00000223428.4_Missense_Mutation_p.E513D Q9Y2H8 ZN510_HUMAN zinc finger protein 510 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) GAAAGGATTTCTCCCCTGTGT 0.408000 5 239 0 0 1 0 0 KATNA1 11104 broad.mit.edu 37 6 149944338 149944338 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:149944338G>A ENST00000367411.2 - 4 660 c.402C>T c.(400-402)gtC>gtT p.V134V KATNA1_ENST00000335643.8_Silent_p.V134V|KATNA1_ENST00000335647.5_Silent_p.V134V NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 134 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) GGTGAACTCTGACAGTTGTAC 0.423000 6 83 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132232334 132232334 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:132232334G>A ENST00000265343.5 - 11 2367 c.1988C>T c.(1987-1989)tCa>tTa p.S663L AFF4_ENST00000378595.3_Missense_Mutation_p.S663L NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 663 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGAGTTTGTGAGGAAGGAGG 0.428000 17 66 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594640 140594640 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:140594640C>A ENST00000341948.4 + 1 1132 c.945C>A c.(943-945)tcC>tcA p.S315S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 315 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTTCAGTCCTATGAAGTCA 0.388000 9 100 2.61681e-11 3.76167e-11 1 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 32 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69330019 69330019 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:69330019G>A ENST00000303714.4 + 10 1071 c.749G>A c.(748-750)cGc>cAc p.R250H ANTXR1_ENST00000409349.3_Missense_Mutation_p.R250H|ANTXR1_ENST00000409829.3_Missense_Mutation_p.R250H NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 250 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CGACATGCCCGCAACGTGGAC 0.478000 Familial Infantile Hemangioma 6 239 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 8002966 8002966 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:8002966G>A ENST00000270538.3 - 3 526 c.258C>T c.(256-258)gaC>gaT p.D86D NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 86 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 TTCTGGCCTCGTCACGGAATT 0.428000 7 174 0 0 1 0 0 VN1R1 57191 broad.mit.edu 37 19 57967782 57967782 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:57967782C>T ENST00000321039.3 - 1 72 c.73G>A c.(73-75)Gat>Aat p.D25N AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron NM_020633.3 NP_065684.1 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 25 response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) TCTGAAGAATCAGTAGAATAA 0.343000 4 38 0 0 1 0 0 IGHV3-7 28452 broad.mit.edu 37 14 106518634 106518634 + RNA SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:106518634G>C ENST00000390598.2 - 0 195 CTGCACAGGAGAGTCTCAGGG 0.582000 23 152 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777516 123777516 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:123777516C>A ENST00000321355.2 + 1 408 c.378C>A c.(376-378)atC>atA p.I126I NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ACGTGGCCATCTGCAGCCCAC 0.502000 17 69 3.41278e-10 4.80576e-10 1 1 0 FAM86A 196483 broad.mit.edu 37 16 5140288 5140288 + Missense_Mutation SNP C C T rs144582297 byFrequency TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:5140288C>T ENST00000427587.4 - 6 607 c.539G>A c.(538-540)cGc>cAc p.R180H FAM86A_ENST00000458008.4_Missense_Mutation_p.R146H|FAM86A_ENST00000587133.1_Missense_Mutation_p.R119H NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 180 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TGCCCGGGGGCGGCACATCTT 0.607000 12 51 0 0 1 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073285 74073285 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:74073285G>C ENST00000370367.3 + 3 409 c.356G>C c.(355-357)gGa>gCa p.G119A NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CCAGGCTCAGGAAAGGCCCTC 0.617000 8 58 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12620700 12620700 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:12620700G>T ENST00000425538.1 + 4 415 c.215G>T c.(214-216)tGc>tTc p.C72F RP11-746E8.1_ENST00000578952.1_lincRNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.C72F NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 72 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGAAACAGGTGCAACAGTGCC 0.428000 6 29 3.09899e-07 3.92349e-07 1 1 0 OR2D2 120776 broad.mit.edu 37 11 6913156 6913156 + Silent SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:6913156G>T ENST00000299459.2 - 1 674 c.576C>A c.(574-576)acC>acA p.T192T NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGATGCATGGGTGTCTGTGG 0.463000 3 42 0.150653 0.151753 1 1 0 TAOK2 9344 broad.mit.edu 37 16 29994190 29994190 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:29994190G>T ENST00000308893.4 + 11 2010 c.967G>T c.(967-969)Ggc>Tgc p.G323C TAOK2_ENST00000279394.3_Missense_Mutation_p.G323C|TAOK2_ENST00000543033.1_Missense_Mutation_p.G323C|TAOK2_ENST00000416441.2_Missense_Mutation_p.G150C NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 323 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGCACCCAACGGCCCTGGTGC 0.602000 15 69 8.34094e-07 1.02772e-06 1 1 0 RPL19 6143 broad.mit.edu 37 17 37360818 37360818 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:37360818C>G ENST00000579260.1 + 6 905 c.502C>G c.(502-504)Cgc>Ggc p.R168G RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000225430.4_Missense_Mutation_p.R170G P84098 RL19_HUMAN ribosomal protein L19 170 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 CAAGGAAGCACGCAAGCGCCG 0.527000 3 68 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83372087 83372087 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:83372087C>A ENST00000262752.2 - 11 937 c.930G>T c.(928-930)agG>agT p.R310S RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R310S NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 310 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TTGCTGGATTCCTTTTGAATA 0.323000 13 34 1.3612e-06 1.66235e-06 1 1 0 TEP1 7011 broad.mit.edu 37 14 20876303 20876303 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:20876303G>C ENST00000262715.5 - 2 336 c.296C>G c.(295-297)tCt>tGt p.S99C TEP1_ENST00000556935.1_Missense_Mutation_p.S99C NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 99 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGGTGGGCAGAAACATGTCC 0.552000 5 122 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216296671 216296671 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:216296671C>A ENST00000354785.4 - 4 801 c.432G>T c.(430-432)ggG>ggT p.G144G FN1_ENST00000359671.1_Silent_p.G144G|FN1_ENST00000357867.4_Silent_p.G144G|FN1_ENST00000357009.2_Silent_p.G144G|FN1_ENST00000356005.4_Silent_p.G144G|FN1_ENST00000346544.3_Silent_p.G144G|FN1_ENST00000345488.5_Silent_p.G144G|FN1_ENST00000336916.4_Silent_p.G144G|FN1_ENST00000323926.6_Silent_p.G144G|FN1_ENST00000426059.1_Silent_p.G144G|FN1_ENST00000446046.1_Silent_p.G144G|FN1_ENST00000443816.1_Silent_p.G144G|FN1_ENST00000432072.2_Silent_p.G144G|FN1_ENST00000421182.1_Silent_p.G144G P02751 FINC_HUMAN fibronectin 1 144 Fibrin- and heparin-binding 1.|Fibronectin type-I 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGACTGACCCCCTTCATGGC 0.448000 19 86 1.50039e-11 2.17951e-11 1 1 0 SEMA3C 10512 broad.mit.edu 37 7 80374432 80374432 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:80374432G>A ENST00000265361.3 - 18 2595 c.2034C>T c.(2032-2034)acC>acT p.T678T SEMA3C_ENST00000544525.1_Silent_p.T696T|SEMA3C_ENST00000419255.2_Silent_p.T678T NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 678 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AGCTGGCCCAGGTCCATGGGG 0.463000 16 63 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234989 21234989 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:21234989G>C ENST00000233242.1 - 26 4878 c.4751C>G c.(4750-4752)tCt>tGt p.S1584C NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1584 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) CATCTTGTTAGAAGTGGCAAA 0.403000 3 51 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78319618 78319618 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:78319618A>G ENST00000582970.1 + 29 7626 c.7483A>G c.(7483-7485)Ata>Gta p.I2495V RNF213_ENST00000336301.6_Missense_Mutation_p.I568V|RNF213_ENST00000508628.2_Missense_Mutation_p.I2544V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 p.I568L(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AACGGAAGCTATAAGCTGTAT 0.488000 16 84 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746080 150746080 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:150746080C>A ENST00000357922.4 + 1 702 c.108C>A c.(106-108)ggC>ggA p.G36G ASIC3_ENST00000297512.8_Silent_p.G36G|ASIC3_ENST00000349064.5_Silent_p.G36G NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 36 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TCGGGCCAGGCAGCCTGAGCC 0.697000 6 43 0.00116845 0.00124996 1 1 0 SRBD1 55133 broad.mit.edu 37 2 45774723 45774723 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:45774723G>A ENST00000263736.4 - 13 1766 c.1704C>T c.(1702-1704)taC>taT p.Y568Y SRBD1_ENST00000535761.1_Silent_p.Y87Y NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 568 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CACAATGCAAGTAAACCACAT 0.313000 7 33 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480999 140480999 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:140480999C>T ENST00000231130.2 + 1 766 c.766C>T c.(766-768)Ccc>Tcc p.P256S AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 256 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGAATACCCCCGTTAACTC 0.428000 9 99 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117707926 117707926 + Nonsense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:117707926C>A ENST00000276204.6 + 12 1408 c.1334C>A c.(1333-1335)tCa>tAa p.S445* DOCK11_ENST00000276202.7_Nonsense_Mutation_p.S445* Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 445 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAGGGCTCTTCACCCGAATCT 0.468000 19 67 9.57634e-11 1.36241e-10 1 1 0 ZNF730 100129543 broad.mit.edu 37 19 23328736 23328736 + Nonsense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:23328736C>G ENST00000597761.2 + 4 1089 c.890C>G c.(889-891)tCa>tGa p.S297* NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 AACCAGTCCTCAAACCTTACT 0.348000 3 33 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38763897 38763897 + Missense_Mutation SNP A A T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:38763897A>T ENST00000449082.2 - 19 3358 c.3359T>A c.(3358-3360)aTt>aAt p.I1120N NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1120 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACAGTGGCGAATGCATCCTGT 0.562000 29 177 0 0 1 0 0 BARHL1 56751 broad.mit.edu 37 9 135464783 135464783 + Silent SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:135464783G>T ENST00000263610.2 + 3 1471 c.858G>T c.(856-858)ccG>ccT p.P286P BARHL1_ENST00000542090.1_Silent_p.P286P NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 286 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CCAGCGCGCCGCCGCCTGCTC 0.721000 4 34 0.000602214 0.000654375 1 1 0 IFT88 8100 broad.mit.edu 37 13 21166516 21166516 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr13:21166516C>T ENST00000382778.4 + 8 1516 c.398C>T c.(397-399)tCc>tTc p.S133F IFT88_ENST00000351808.5_Missense_Mutation_p.S124F|IFT88_ENST00000319980.6_Missense_Mutation_p.S133F|IFT88_ENST00000537103.1_Missense_Mutation_p.S105F Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 133 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) GGCCCTGCTTCCCCTTTGGAA 0.358000 3 45 0 0 1 0 0 ABT1 29777 broad.mit.edu 37 6 26598733 26598733 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:26598733C>T ENST00000274849.1 + 3 710 c.679C>T c.(679-681)Cgg>Tgg p.R227W NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 227 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 TAAAGCAGCACGGCCAGGGGG 0.657000 12 65 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48593406 48593406 + Missense_Mutation SNP G G T rs121912580 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr18:48593406G>T ENST00000342988.3 + 10 1695 c.1157G>T c.(1156-1158)gGt>gTt p.G386V SMAD4_ENST00000398417.2_Missense_Mutation_p.G386V|SMAD4_ENST00000588745.1_Missense_Mutation_p.G290V NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 386 MH2. G -> D (in JP/HHT; dbSNP:rs28936393). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) ATAGGCAAAGGTGTGCAGTTG 0.368000 18 68 1.55469e-16 2.33204e-16 1 1 0 CDHR5 53841 broad.mit.edu 37 11 619514 619514 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:619514G>A ENST00000358353.3 - 12 1575 c.1253C>T c.(1252-1254)aCc>aTc p.T418I CDHR5_ENST00000397542.2_Missense_Mutation_p.T418I|CDHR5_ENST00000349570.7_Missense_Mutation_p.T418I Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 418 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TGTGGTGGTGGTCAGCACAAC 0.597000 25 144 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49669967 49669967 + Silent SNP C C A rs145829157 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:49669967C>A ENST00000561648.1 - 4 3149 c.3096G>T c.(3094-3096)acG>acT p.T1032T ZNF423_ENST00000567169.1_Silent_p.T915T|ZNF423_ENST00000562520.1_Silent_p.T972T|ZNF423_ENST00000562871.1_Silent_p.T972T|ZNF423_ENST00000535559.1_Silent_p.T915T|ZNF423_ENST00000262383.2_Silent_p.T1032T|ZNF423_ENST00000563137.2_Silent_p.T972T NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1032 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGAGCTCAAGCGTGGAAGTGA 0.597000 4 35 4.096e-09 5.54165e-09 1 1 0 CDH4 1002 broad.mit.edu 37 20 60504878 60504878 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:60504878C>T ENST00000360469.5 + 13 2305 c.2217C>T c.(2215-2217)ctC>ctT p.L739L CDH4_ENST00000543233.1_Silent_p.L665L NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 739 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TGGCCATCCTCATCTGCATCC 0.622000 18 62 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128153375 128153375 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:128153375C>G ENST00000284694.7 - 4 1544 c.1424G>C c.(1423-1425)aGc>aCc p.S475T C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Missense_Mutation_p.S428T|C10orf90_ENST00000544758.1_Missense_Mutation_p.S572T NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 475 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTTCAGGAAGCTTTGATGTCG 0.473000 6 39 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140953545 140953545 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:140953545C>T ENST00000277549.5 + 31 4645 c.2076C>T c.(2074-2076)ccC>ccT p.P692P CACNA1B_ENST00000371363.1_Silent_p.P1496P|CACNA1B_ENST00000371357.1_Silent_p.P1497P|CACNA1B_ENST00000277551.2_Silent_p.P1496P|CACNA1B_ENST00000371372.1_Silent_p.P1496P|CACNA1B_ENST00000371355.4_Silent_p.P1497P Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1496 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ATGATGCACCCTATGAGTACG 0.542000 5 30 0 0 1 0 0 MOB1B 92597 broad.mit.edu 37 4 71824700 71824700 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:71824700C>T ENST00000309395.2 + 2 325 c.124C>T c.(124-126)Cgg>Tgg p.R42W MOB1B_ENST00000511449.1_3'UTR|MOB1B_ENST00000396051.2_Missense_Mutation_p.R47W NM_001244766.1|NM_173468.3 NP_001231695.1|NP_775739.1 Q7L9L4 MOL1A_HUMAN MOB kinase activator 1B 42 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding TGGCAACCTTCGGATGGCTGT 0.433000 10 28 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103138348 103138348 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:103138348C>T ENST00000428762.1 - 55 9028 c.8869G>A c.(8869-8871)Ggt>Agt p.G2957S CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.G2957S|RELN_ENST00000424685.2_Missense_Mutation_p.G2957S NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2957 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCTCACTACCGATGCGCCCC 0.468000 5 69 0 0 1 0 0 PRRC1 133619 broad.mit.edu 37 5 126874745 126874745 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:126874745G>A ENST00000442138.2 + 7 1081 c.935G>A c.(934-936)cGg>cAg p.R312Q PRRC1_ENST00000512635.2_Missense_Mutation_p.R312Q|PRRC1_ENST00000296666.8_Missense_Mutation_p.R312Q Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 312 Golgi apparatus endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GCTCAGGAACGGATAGATAGC 0.373000 6 83 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54919551 54919551 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:54919551G>A ENST00000474759.1 + 23 2042 c.1994G>A c.(1993-1995)cGc>cAc p.R665H CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R665H|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R571H|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R665H NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 665 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCTGAGCACCGCCATCTGTCT 0.473000 7 25 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430454 135430454 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:135430454A>G ENST00000394143.1 + 6 4880 c.4589A>G c.(4588-4590)gAc>gGc p.D1530G GPR112_ENST00000287534.4_Missense_Mutation_p.D1467G|GPR112_ENST00000412101.1_Missense_Mutation_p.D1325G|GPR112_ENST00000394141.1_Missense_Mutation_p.D1325G|GPR112_ENST00000370652.1_Missense_Mutation_p.D1530G NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1530 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAAGTTTCTGACACTCCCCCA 0.433000 3 102 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50332964 50332964 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:50332964G>T ENST00000336307.1 - 2 342 c.70C>A c.(70-72)Cca>Aca p.P24T HYAL3_ENST00000450982.1_Missense_Mutation_p.P24T|HYAL3_ENST00000359051.3_Missense_Mutation_p.P24T|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 24 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGGACCTGTGGTAGGGGCTGG 0.627000 9 40 0.000274275 0.0003028 1 1 0 SRBD1 55133 broad.mit.edu 37 2 45774718 45774718 + Missense_Mutation SNP T T A rs35369160 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:45774718T>A ENST00000263736.4 - 13 1771 c.1709A>T c.(1708-1710)cAt>cTt p.H570L SRBD1_ENST00000535761.1_Missense_Mutation_p.H89L NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 570 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TTGTCCACAATGCAAGTAAAC 0.323000 7 36 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177648996 177648996 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:177648996C>A ENST00000280193.2 - 3 903 c.488G>T c.(487-489)gGg>gTg p.G163V VEGFC_ENST00000507638.1_5'UTR NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 163 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GCAGCAACCCCCACATCTGTA 0.547000 20 109 1.87028e-06 2.26403e-06 1 1 0 FAT2 2196 broad.mit.edu 37 5 150920132 150920132 + Nonsense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:150920132G>T ENST00000261800.5 - 10 9047 c.9035C>A c.(9034-9036)tCa>tAa p.S3012* NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3012 Cadherin 27. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTCACCTGTGAACACTGTGG 0.532000 4 26 0.00909568 0.00943762 1 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95625311 95625311 + Nonsense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:95625311G>T ENST00000324972.6 + 10 1139 c.946G>T c.(946-948)Gaa>Taa p.E316* DYNC1I1_ENST00000457059.1_Nonsense_Mutation_p.E299*|DYNC1I1_ENST00000447467.2_Nonsense_Mutation_p.E299*|DYNC1I1_ENST00000537881.1_Nonsense_Mutation_p.E279*|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.E296*|DYNC1I1_ENST00000359388.4_Nonsense_Mutation_p.E279* NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 316 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TGCTCCCCATGAACCAGATGG 0.428000 8 131 0.00307968 0.00324424 1 1 0 BZW2 28969 broad.mit.edu 37 7 16744259 16744259 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:16744259A>G ENST00000433922.2 + 11 1374 c.1196A>G c.(1195-1197)aAg>aGg p.K399R AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Missense_Mutation_p.K323R|BZW2_ENST00000258761.3_Missense_Mutation_p.K399R|BZW2_ENST00000407633.1_Missense_Mutation_p.K205R NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 399 W2. cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) GACCAGATGAAGAAATTTGTT 0.328000 12 40 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60615506 60615506 + Nonsense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:60615506G>T ENST00000227520.5 + 2 922 c.868G>T c.(868-870)Gag>Tag p.E290* CCDC86_ENST00000545580.1_Nonsense_Mutation_p.E34*|RP11-804A23.4_ENST00000538705.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 290 interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 CCTGGAGGAGGAGAAGGAGAG 0.627000 9 38 0.0477658 0.0484682 1 1 0 CCDC172 374355 broad.mit.edu 37 10 118137968 118137968 + Silent SNP T T C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:118137968T>C ENST00000333254.3 + 8 938 c.687T>C c.(685-687)gaT>gaC p.D229D NM_198515.2 NP_940917.1 coiled-coil domain containing 172 ATAAGGAAGATGACATGGAAA 0.274000 8 51 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41792359 41792359 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr8:41792359G>A ENST00000396930.3 - 18 3922 c.3379C>T c.(3379-3381)Ctt>Ttt p.L1127F KAT6A_ENST00000265713.2_Missense_Mutation_p.L1127F|KAT6A_ENST00000406337.1_Missense_Mutation_p.L1127F NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1127 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TTTCGCAAAAGAGATACTGGC 0.413000 14 176 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46486797 46486797 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:46486797G>T ENST00000231751.4 - 12 1783 c.1488C>A c.(1486-1488)ttC>ttA p.F496L LTF_ENST00000426532.2_Missense_Mutation_p.F452L|LTF_ENST00000417439.1_Missense_Mutation_p.F494L NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 496 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CCGTCTGGTTGAAGAGCAGGC 0.567000 6 96 0.000157383 0.000175152 1 1 0 TRBV10-1 28585 broad.mit.edu 37 7 142231664 142231664 + RNA SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:142231664C>A ENST00000390364.3 - 0 320 GATCTAGAGACACTGTAGCCA 0.512000 18 110 4.96729e-08 6.59121e-08 1 1 0 UNC5C 8633 broad.mit.edu 37 4 96140183 96140183 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:96140183G>T ENST00000453304.1 - 9 1930 c.1582C>A c.(1582-1584)Cca>Aca p.P528T UNC5C_ENST00000506749.1_Missense_Mutation_p.P547T NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 528 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GTACAGGATGGATCAGTCTGC 0.493000 10 84 0.0167234 0.017095 1 1 0 MRPL53 116540 broad.mit.edu 37 2 74699360 74699360 + Missense_Mutation SNP A A T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:74699360A>T ENST00000409710.1 - 2 138 c.112T>A c.(112-114)Tat>Aat p.Y38N MRPL53_ENST00000258105.7_Silent_p.I75I Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 0 mitochondrion|ribosome central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 CGCCGCGCATAATCAGGCGAT 0.682000 5 24 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228856017 228856017 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:228856017G>A ENST00000392056.3 - 10 4793 c.4747C>T c.(4747-4749)Ctt>Ttt p.L1583F SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1554F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1583 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTCCTTTAAGAATCTTCTTT 0.413000 8 84 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322915 4322915 + Missense_Mutation SNP G G T rs145779018 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:4322915G>T ENST00000337872.4 + 8 2291 c.2170G>T c.(2170-2172)Ggt>Tgt p.G724C ZBTB49_ENST00000538529.1_Missense_Mutation_p.G207C|ZBTB49_ENST00000355834.3_Missense_Mutation_p.G602C NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 724 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 CAACCACGGCGGTGACCCCCT 0.587000 6 35 0.00116845 0.00124996 1 1 0 MFAP3L 9848 broad.mit.edu 37 4 170913125 170913125 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:170913125T>A ENST00000361618.3 - 3 941 c.634A>T c.(634-636)Acc>Tcc p.T212S MFAP3L_ENST00000393704.3_Missense_Mutation_p.T109S|RP11-6E9.4_ENST00000508955.1_RNA NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 212 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TTGGCGGAGGTGATGATGGGG 0.532000 11 55 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22675764 22675764 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:22675764G>T ENST00000376603.2 + 5 924 c.782G>T c.(781-783)aGg>aTg p.R261M RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.R185M|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.R160M|SPAG6_ENST00000313311.6_Missense_Mutation_p.R185M O75602 SPAG6_HUMAN sperm associated antigen 6 185 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 GCTTTGAAAAGGATTGCTGCT 0.473000 19 79 1.50039e-11 2.17951e-11 1 1 0 PTK2B 2185 broad.mit.edu 37 8 27289812 27289812 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr8:27289812C>T ENST00000397501.1 + 15 1729 c.921C>T c.(919-921)tcC>tcT p.S307S PTK2B_ENST00000544172.1_Silent_p.S307S|PTK2B_ENST00000397497.4_Silent_p.S53S|PTK2B_ENST00000346049.5_Silent_p.S307S|PTK2B_ENST00000338238.4_Silent_p.S307S|PTK2B_ENST00000420218.2_Silent_p.S307S|PTK2B_ENST00000517339.1_Silent_p.S307S NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 307 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGATCAGGTCCATCAGGTGCC 0.617000 5 46 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46319250 46319250 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:46319250C>A ENST00000245934.7 - 26 3790 c.3546G>T c.(3544-3546)ccG>ccT p.P1182P SYMPK_ENST00000598155.1_5'UTR NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 1182 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CAGACGGGGGCGGGCCTGGCC 0.672000 4 15 2.0095e-06 2.4114e-06 1 1 0 ARMC3 219681 broad.mit.edu 37 10 23235079 23235079 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:23235079C>A ENST00000298032.5 + 3 139 c.55C>A c.(55-57)Cca>Aca p.P19T ARMC3_ENST00000409049.3_Missense_Mutation_p.P19T|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.P19T NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 19 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCAGTTTGACCCATTAATGAT 0.308000 5 39 3.59834e-05 4.10389e-05 1 1 0 FRK 2444 broad.mit.edu 37 6 116264242 116264242 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:116264242A>G ENST00000606080.1 - 7 1693 c.1247T>C c.(1246-1248)gTa>gCa p.V416A FRK_ENST00000538210.1_Missense_Mutation_p.V274A NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 416 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AAATGACCATACATCGGACTT 0.398000 5 55 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47103738 47103738 + Nonsense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:47103738G>A ENST00000409792.3 - 14 6250 c.6208C>T c.(6208-6210)Caa>Taa p.Q2070* SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2070 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTTTATTTTGAGTTTGCTTG 0.493000 """N, F, S, Mis""" clear cell renal carcinoma 29 168 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16640583 16640583 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:16640583C>T ENST00000546361.2 - 8 1156 c.1005G>A c.(1003-1005)caG>caA p.Q335Q CHERP_ENST00000198939.6_Silent_p.Q346Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 335 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 gctgctgttgctgctgctgct 0.667000 3 40 0 0 1 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212092 90212092 + RNA SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:90212092C>T ENST00000390277.2 + 0 281 GAAACCTGGCCAGGCTCCCAG 0.592000 8 49 0 0 1 0 0 JAK2 3717 broad.mit.edu 37 9 5054630 5054630 + Nonsense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:5054630C>T ENST00000381652.3 + 7 1176 c.682C>T c.(682-684)Cga>Tga p.R228* JAK2_ENST00000544510.1_Nonsense_Mutation_p.R79*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.R228* NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 228 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GACAAGGAAGCGAATAAGGTA 0.348000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 12 126 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121947779 121947779 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr12:121947779T>A ENST00000377069.4 - 11 1551 c.1145A>T c.(1144-1146)gAg>gTg p.E382V KDM2B_ENST00000536437.1_Missense_Mutation_p.E296V|KDM2B_ENST00000377071.4_Missense_Mutation_p.E413V|KDM2B_ENST00000538046.2_Missense_Mutation_p.E323V NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 413 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 ATCACAGGCCTCCTCCTCCAT 0.627000 10 40 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855993 12855993 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:12855993G>A ENST00000332296.7 + 4 1376 c.1273G>A c.(1273-1275)Gtc>Atc p.V425I PRAMEF1_ENST00000400814.3_Missense_Mutation_p.V180I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 425 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTGGTTCGTGTCAATTGGGA 0.577000 28 198 0 0 1 0 0 MRAP 56246 broad.mit.edu 37 21 33684278 33684278 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr21:33684278G>A ENST00000399784.2 + 5 677 c.490G>A c.(490-492)Gga>Aga p.G164R MRAP_ENST00000339944.4_Intron|MRAP_ENST00000303645.5_Missense_Mutation_p.G164R|MRAP_ENST00000497833.1_3'UTR|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000399786.3_Intron NM_178817.3 NP_848932.1 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 164 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding endometrium(1)|large_intestine(2)|lung(3) 6 GCCTCCCCCTGGAGACAGGAC 0.582000 15 59 0 0 1 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216578 26216578 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:26216578G>A ENST00000244601.3 - 1 294 c.294C>T c.(292-294)gcC>gcT p.A98A NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 98 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) GCAGACGCACGGCGGTCTGGA 0.572000 4 121 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306674 1306674 + Silent SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:1306674G>T ENST00000211076.3 + 2 388 c.240G>T c.(238-240)gcG>gcT p.A80A TPSD1_ENST00000397534.2_Silent_p.A73A NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 80 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) TAACCGCGGCGCACTGCGTGG 0.701000 7 55 7.48243e-07 9.30248e-07 1 1 0 LDHA 3939 broad.mit.edu 37 11 18418443 18418443 + Silent SNP C C A rs11553865 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:18418443C>A ENST00000422447.3 + 2 327 c.54C>A c.(52-54)acC>acA p.T18T LDHA_ENST00000540430.1_Silent_p.T47T|LDHA_ENST00000379412.5_Silent_p.T18T|LDHA_ENST00000542179.1_Silent_p.T18T|LDHA_ENST00000396222.2_Silent_p.T18T|LDHA_ENST00000227157.4_Silent_p.T18T|LDHA_ENST00000430553.2_Silent_p.T18T NM_001135239.1|NM_005566.3 NP_001128711.1|NP_005557.1 P00338 LDHA_HUMAN lactate dehydrogenase A 18 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) AAGAACAGACCCCCCAGAATA 0.418000 11 79 2.27111e-07 2.90197e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179456035 179456035 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:179456035C>T ENST00000589042.1 - 304 60641 c.60417G>A c.(60415-60417)aaG>aaA p.K20139K TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.K11199K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K18498K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.K11266K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.K17571K|TTN_ENST00000460472.2_Silent_p.K11074K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18498 Fibronectin type-III 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAAGCAGTTCTTAATGGTAA 0.433000 13 402 0 0 1 0 0 FZD9 8326 broad.mit.edu 37 7 72849738 72849738 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:72849738C>A ENST00000344575.3 + 1 1630 c.1401C>A c.(1399-1401)gtC>gtA p.V467V NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 467 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) TTTGCTATGTCTACGAACGCC 0.642000 5 20 8.12818e-05 9.11943e-05 1 1 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 3 10 0 0 1 0 0 SIDT2 51092 broad.mit.edu 37 11 117063023 117063023 + Silent SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:117063023C>T ENST00000324225.4 + 20 2457 c.1926C>T c.(1924-1926)atC>atT p.I642I SIDT2_ENST00000431081.2_Silent_p.I639I NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 642 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TCATTCACATCATCGCCACCC 0.637000 7 99 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295215 10295215 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:10295215C>A ENST00000403437.2 - 39 5742 c.5648G>T c.(5647-5649)aGa>aTa p.R1883I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1883 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTCAGCTTGTCTCTTGTATGA 0.378000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 42 137 9.55421e-19 1.46498e-18 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34962077 34962077 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:34962077C>A ENST00000329357.5 + 1 1165 c.1129C>A c.(1129-1131)Cct>Act p.P377T NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 377 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ACTCACCAAGCCTGGTAAATA 0.537000 12 39 1.49906e-05 1.7384e-05 1 1 0 SLC30A10 55532 broad.mit.edu 37 1 220088985 220088985 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:220088985G>T ENST00000366926.3 - 4 1425 c.1264C>A c.(1264-1266)Ctg>Atg p.L422M SLC30A10_ENST00000536446.1_Missense_Mutation_p.L177M|SLC30A10_ENST00000484079.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 422 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ACGTGAGCCAGAGGCAGTGCC 0.567000 13 53 1.49906e-05 1.7384e-05 1 1 0 INSC 387755 broad.mit.edu 37 11 15243191 15243191 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:15243191G>T ENST00000379554.3 + 8 1175 c.1129G>T c.(1129-1131)Gtc>Ttc p.V377F INSC_ENST00000379556.3_Missense_Mutation_p.V330F|INSC_ENST00000525218.1_Missense_Mutation_p.V288F|INSC_ENST00000528567.1_Missense_Mutation_p.V330F|INSC_ENST00000530161.1_Missense_Mutation_p.V330F|INSC_ENST00000424273.1_Missense_Mutation_p.V288F|INSC_ENST00000447214.2_3'UTR NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 377 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GACAGCCCTCGTCAGTGAGTC 0.617000 4 39 0.014758 0.0151985 1 1 0 SETD2 29072 broad.mit.edu 37 3 47158197 47158197 + Missense_Mutation SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr3:47158197C>G ENST00000409792.3 - 4 4544 c.4502G>C c.(4501-4503)tGt>tCt p.C1501S NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1501 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAGAGGTGTACACTCACACTG 0.318000 """N, F, S, Mis""" clear cell renal carcinoma 16 71 0 0 1 0 0 MAB21L3 126868 broad.mit.edu 37 1 116675911 116675911 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:116675911C>A ENST00000369500.3 + 7 1279 c.1014C>A c.(1012-1014)acC>acA p.T338T NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 338 T -> A (in Ref. 1; BAC04682 and 3; AAI28150). breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 TTCAGTGCACCAACCCGACTG 0.582000 6 130 8.12818e-05 9.11943e-05 1 1 0 MRPS5 64969 broad.mit.edu 37 2 95766248 95766248 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:95766248G>A ENST00000272418.2 - 10 1110 c.902C>T c.(901-903)aCg>aTg p.T301M NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 301 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 CTTGATATGCGTCCTTTTAAA 0.328000 3 46 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87628808 87628808 + Missense_Mutation SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr10:87628808G>C ENST00000327946.7 - 6 995 c.910C>G c.(910-912)Ctg>Gtg p.L304V NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 304 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.L304M(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TCGCAGAGCAGGGAGGAGATG 0.577000 Multiple Myeloma(13;0.14) 16 75 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43920682 43920682 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:43920682G>T ENST00000602198.1 + 6 862 c.420G>T c.(418-420)caG>caT p.Q140H TEX101_ENST00000253435.7_Missense_Mutation_p.Q140H|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Missense_Mutation_p.Q122H NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 122 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) GCCTGTCTCAGTTTTGGGAGT 0.483000 39 181 2.54354e-34 4.08149e-34 1 1 0 AHCTF1 25909 broad.mit.edu 37 1 247014516 247014516 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:247014516C>A ENST00000366508.1 - 33 5033 c.4897G>T c.(4897-4899)Ggt>Tgt p.G1633C AHCTF1_ENST00000391829.2_Missense_Mutation_p.G1598C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1607C|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1598 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCTTCTTCACCTTCCAATATC 0.413000 15 43 6.94344e-10 9.58195e-10 1 1 0 C20orf26 26074 broad.mit.edu 37 20 20172016 20172016 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:20172016G>A ENST00000245957.5 + 15 1619 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 515 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ATTTGTAGCTGAAGTTGCAGA 0.343000 14 78 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155264336 155264336 + Missense_Mutation SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:155264336A>G ENST00000392414.3 - 6 922 c.809T>C c.(808-810)cTg>cCg p.L270P PKLR_ENST00000342741.4_Missense_Mutation_p.L301P NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 301 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) TTCCGGACCCAGAGCAGCCCT 0.612000 7 37 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 19 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098809 178098809 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:178098809T>A ENST00000397062.3 - 2 790 c.236A>T c.(235-237)gAg>gTg p.E79V NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63V|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63V|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63V|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63V NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E79G(1)|p.E79_T80insE(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTCACCTGTCTCTTCATCTAG 0.438000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 11 50 0 0 1 0 0 HAT1 8520 broad.mit.edu 37 2 172809485 172809485 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:172809485C>T ENST00000264108.4 + 4 311 c.275C>T c.(274-276)gCa>gTa p.A92V HAT1_ENST00000392584.1_Missense_Mutation_p.A7V|SLC25A12_ENST00000472748.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 92 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) GTTGAATATGCATCTAAAGTT 0.323000 4 79 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41349784 41349784 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:41349784G>T ENST00000301141.5 - 9 1422 c.1402C>A c.(1402-1404)Cct>Act p.P468T CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 468 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) ATGTCCTTAGGTGACTGGGAG 0.572000 8 88 2.68362e-12 3.98215e-12 1 1 0 ALG10 84920 broad.mit.edu 37 12 34179154 34179154 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr12:34179154G>T ENST00000266483.2 + 3 1045 c.726G>T c.(724-726)atG>atT p.M242I ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 242 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) CTTATTCCATGTCCTTTAAAA 0.368000 25 139 7.38237e-10 1.00868e-09 1 1 0 APOB 338 broad.mit.edu 37 2 21234526 21234526 + Silent SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:21234526G>C ENST00000233242.1 - 26 5341 c.5214C>G c.(5212-5214)ctC>ctG p.L1738L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1738 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) TGTCATTTGAGAGCTTAAGTC 0.418000 6 243 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27704107 27704107 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:27704107C>A ENST00000260570.3 - 8 694 c.591G>T c.(589-591)ccG>ccT p.P197P IFT172_ENST00000359466.6_Silent_p.P197P|IFT172_ENST00000416524.2_Silent_p.P176P NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 197 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) AGGGTGGACACGGGTGGTTAA 0.483000 5 27 1.06961e-07 1.39252e-07 1 1 0 CDCA4 55038 broad.mit.edu 37 14 105477868 105477868 + Silent SNP G G C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr14:105477868G>C ENST00000336219.3 - 2 554 c.399C>G c.(397-399)acC>acG p.T133T CDCA4_ENST00000392590.3_Silent_p.T133T NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 133 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) CCTGTGCTGAGGTGACTGGGC 0.592000 3 53 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65393401 65393401 + Silent SNP A A G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr11:65393401A>G ENST00000355703.3 + 20 3794 c.3255A>G c.(3253-3255)gcA>gcG p.A1085A NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1085 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 TGTTGTACGCACTGGCTGGGG 0.632000 OREG0021084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 50 0 0 1 0 0 IL12B 3593 broad.mit.edu 37 5 158743806 158743806 + Missense_Mutation SNP C C A rs150030340 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:158743806C>A ENST00000231228.2 - 7 1329 c.874G>T c.(874-876)Gac>Tac p.D292Y NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 292 Fibronectin type-III. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGGTCTTGTCCGTGAAGACT 0.512000 OREG0016989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 65 2.23348e-06 2.65708e-06 1 1 0 TMEM2 23670 broad.mit.edu 37 9 74360430 74360430 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr9:74360430G>T ENST00000377044.4 - 4 1077 c.538C>A c.(538-540)Ctg>Atg p.L180M TMEM2_ENST00000377066.5_Missense_Mutation_p.L180M NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 180 G8. integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCCTGGATCAGGATGTAATGA 0.438000 13 91 2.31682e-05 2.66435e-05 1 1 0 SCARA5 286133 broad.mit.edu 37 8 27823930 27823930 + Splice_Site SNP C C G TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr8:27823930C>G ENST00000354914.3 - 3 727 c.e3+1 SCARA5_ENST00000380385.2_Splice_Site|SCARA5_ENST00000518030.1_Intron|SCARA5_ENST00000524352.1_Splice_Site|SCARA5_ENST00000301906.4_Intron NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CCTGCTCTTACCTGCTAAGAT 0.542000 11 36 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109347334 109347334 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr2:109347334G>A ENST00000283195.6 + 3 371 c.245G>A c.(244-246)tGt>tAt p.C82Y NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 82 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GCCGTTGAATGTTACAGGGTA 0.343000 23 140 0 0 1 0 0 AIDA 64853 broad.mit.edu 37 1 222860943 222860943 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:222860943G>A ENST00000340020.6 - 5 553 c.347C>T c.(346-348)cCa>cTa p.P116L AIDA_ENST00000541237.1_Missense_Mutation_p.P92L|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.P116L NM_022831.2 NP_073742.2 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 116 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 TTACCTTAATGGGACAGGCTG 0.269000 9 70 0 0 1 0 0 TMEM208 29100 broad.mit.edu 37 16 67262440 67262440 + Missense_Mutation SNP C C T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:67262440C>T ENST00000565201.1 + 4 256 c.205C>T c.(205-207)Cac>Tac p.H69Y TMEM208_ENST00000563953.1_5'UTR|TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000304800.9_Missense_Mutation_p.H69Y Q9BTX3 TM208_HUMAN transmembrane protein 208 69 integral to membrane breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGCCAGCTACCACTCTATGAG 0.577000 6 15 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48342874 48342874 + Missense_Mutation SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:48342874C>A ENST00000221996.7 + 4 756 c.550C>A c.(550-552)Ccg>Acg p.P184T TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P184T NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 184 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GGCCTCAGGGCCGTCTCTGAC 0.672000 6 34 1.06961e-07 1.39252e-07 1 1 0 AKAP4 8852 broad.mit.edu 37 X 49962221 49962221 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chrX:49962221G>T ENST00000376056.2 - 3 271 c.121C>A c.(121-123)Ctg>Atg p.L41M AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.L41M|AKAP4_ENST00000358526.2_Missense_Mutation_p.L50M|AKAP4_ENST00000376064.3_Missense_Mutation_p.L41M Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 50 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TCTACATTCAGGGTGGACACA 0.398000 5 49 1.12685e-05 1.32911e-05 1 1 0 CR2 1380 broad.mit.edu 37 1 207642509 207642509 + Missense_Mutation SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:207642509G>A ENST00000367057.3 + 5 938 c.749G>A c.(748-750)gGc>gAc p.G250D CR2_ENST00000367059.3_Missense_Mutation_p.G250D|CR2_ENST00000367058.3_Missense_Mutation_p.G250D|CR2_ENST00000458541.2_Missense_Mutation_p.G250D|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 250 Sushi 4. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CGACTGCAAGGCCCACCTTCT 0.473000 34 173 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35769666 35769666 + Missense_Mutation SNP T T C TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr20:35769666T>C ENST00000400441.3 - 12 1386 c.1387A>G c.(1387-1389)Aca>Gca p.T463A MROH8_ENST00000217333.8_Intron|MROH8_ENST00000441008.2_Missense_Mutation_p.T449A maestro heat-like repeat family member 8 p.T463A(1) GTATCAAATGTAGTCATTATA 0.378000 4 5 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16723379 16723379 + RNA SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:16723379C>A ENST00000417510.1 - 0 740 ATGTCGGCCCCCACACTCATG 0.557000 18 148 7.21436e-19 1.13134e-18 1 1 0 LEPROT 54741 broad.mit.edu 37 1 65895546 65895546 + Splice_Site SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:65895546G>T ENST00000371065.4 + 3 232 c.92_splice c.e3-1 p.V32_splice LEPR_ENST00000349533.6_Intron|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000371060.3_Intron|LEPROT_ENST00000484243.1_3'UTR NM_001198681.1|NM_017526.4 NP_001185610.1|NP_059996.1 O15243 OBRG_HUMAN leptin receptor overlapping transcript 32 endosome membrane|Golgi membrane|integral to plasma membrane kidney(1)|large_intestine(1)|lung(5) 7 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AACTGACAGCGTTTACTGGCC 0.398000 28 131 9.04072e-19 1.40182e-18 1 1 0 PCDHB16 57717 broad.mit.edu 37 5 140563505 140563505 + Silent SNP C C A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:140563505C>A ENST00000361016.2 + 1 2526 c.1371C>A c.(1369-1371)acC>acA p.T457T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 457 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCTACACCCTGTTCGTCC 0.567000 28 157 6.97489e-18 1.05773e-17 1 1 0 ACSF3 197322 broad.mit.edu 37 16 89220529 89220529 + Nonsense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:89220529G>T ENST00000317447.4 + 11 2022 c.1645G>T c.(1645-1647)Gag>Tag p.E549* ACSF3_ENST00000406948.3_Nonsense_Mutation_p.E549*|ACSF3_ENST00000378345.4_Nonsense_Mutation_p.E284*|ACSF3_ENST00000537116.1_3'UTR NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 549 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) GGTGCCCTCGGAGCTGGTGCT 0.637000 3 26 1 1 1 1 0 CPT2 1376 broad.mit.edu 37 1 53668099 53668099 + Missense_Mutation SNP C C T rs74315294 byFrequency TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr1:53668099C>T ENST00000371486.3 + 3 853 c.338C>T c.(337-339)tCg>tTg p.S113L CPT2_ENST00000468572.1_3'UTR NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 113 S -> L (in CPT2D; muscular form. Frequent mutation, may be a polymorphism as it found in some 'normal' cDNA seqeuences). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) AGCTACATTTCGGGTAGGTAG 0.418000 5 63 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72988330 72988330 + Silent SNP G G A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:72988330G>A ENST00000305632.5 - 3 625 c.384C>T c.(382-384)cgC>cgT p.R128R TBL2_ENST00000432538.1_Silent_p.R92R|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.R128R NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 128 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CTCTCATGCTGCGGTGCTCTC 0.602000 18 79 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56316293 56316305 + Frame_Shift_Del DEL CTTGAACTCCGAG CTTGAACTCCGAG - rs148913372 TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:56316293_56316305delCTTGAACTCCGAG ENST00000309964.4 - 15 1551_1563 c.1301_1313delCTCGGAGTTCAAG c.(1300-1314)tafs p.SRSSR434fs CLOCK_ENST00000381322.1_Frame_Shift_Del_p.SRSSR434fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.SRSSR434fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 434 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) AGATGATTTTCTTGAACTCCGAGAAGAGGCAGA 0.432 7 71 --- --- --- --- FSTL5 56884 broad.mit.edu 37 4 162376268 162376268 + Frame_Shift_Del DEL C C - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr4:162376268delC ENST00000306100.5 - 15 2165 c.1729delG c.(1729-1731)ccfs p.A577fs FSTL5_ENST00000536695.1_Frame_Shift_Del_p.A576fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.A576fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.A567fs NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 577 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCCCACTGGCCAGGGTAATT 0.398 17 82 --- --- --- --- LSM11 134353 broad.mit.edu 37 5 157171203 157171203 + Frame_Shift_Del DEL C C - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr5:157171203delC ENST00000286307.5 + 1 501 c.445delC c.(445-447)ccfs p.P149fs NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 149 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACGCGAATGCCCTGTGAGTC 0.761 2 4 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 8 119 --- --- --- --- TRA2A 29896 broad.mit.edu 37 7 23547133 23547135 + In_Frame_Del DEL TTC TTC - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:23547133_23547135delTTC ENST00000297071.4 - 5 761_763 c.545_547delGAA c.(544-549)gtg>g p.GM182del TRA2A_ENST00000538367.1_In_Frame_Del_p.GM81del|TRA2A_ENST00000392502.4_In_Frame_Del_p.GM81del|TRA2A_ENST00000474586.1_5'UTR NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 182 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 TCCAGCTCCATTCCATTTGCCCT 0.404 7 196 --- --- --- --- GTF2IRD2P1 401375 broad.mit.edu 37 7 72664019 72664020 + RNA INS - - T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr7:72664019_72664020insT ENST00000425256.1 - 0 880_881 NR_002164.1 CACCCCCGGGGCATGCCATCAA 0.505 2 4 --- --- --- --- FBXO22 26263 broad.mit.edu 37 15 76225419 76225422 + Frame_Shift_Del DEL CATA CATA - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr15:76225419_76225422delCATA ENST00000308275.3 + 7 1293_1296 c.1188_1191delCATA c.(1186-1191)ctfs p.LI396fs FBXO22_ENST00000540507.1_Frame_Shift_Del_p.LI292fs NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 396 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TAATGGCACTCATACATCTGGGGT 0.343 8 95 --- --- --- --- LONP2 83752 broad.mit.edu 37 16 48382016 48382016 + Frame_Shift_Del DEL G G - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr16:48382016delG ENST00000285737.4 + 14 2245 c.2152delG c.(2152-2154)gafs p.G718fs LONP2_ENST00000535754.1_Frame_Shift_Del_p.G674fs|LONP2_ENST00000564259.1_3'UTR NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 718 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TAAAGCTTTTGGAAGTTTTGA 0.358 15 66 --- --- --- --- KRT16P4 339244 broad.mit.edu 37 17 18334177 18334177 + RNA DEL T T - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr17:18334177delT ENST00000580052.1 + 0 43 TTCCTCTCTGTTTTTTTTTTC 0.572 2 4 --- --- --- --- WIZ 58525 broad.mit.edu 37 19 15549931 15549933 + In_Frame_Del DEL TCC TCC - TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61181eca-24b7-4256-bf0b-7902359e4f4b eb7be5ed-361f-463a-aa9d-6408387ded3a g.chr19:15549931_15549933delTCC ENST00000389282.4 - 3 1941_1943 c.1728_1730delGGA c.(1726-1731)gat>ga p.ED576del WIZ_ENST00000263381.6_Intron O95785 WIZ_HUMAN widely interspaced zinc finger motifs 576 Poly-Glu. nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CAGCACTACAtcctcctcctcct 0.611 2 4 --- --- --- ---