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 CRTC1 23373 broad.mit.edu 37 19 18879357 18879357 + Silent SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr19:18879357G>A ENST00000338797.6 + 11 1147 c.1122G>A c.(1120-1122)gcG>gcA p.A374A CRTC1_ENST00000321949.8_Silent_p.A358A|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Silent_p.A317A NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 358 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 TCACCCAGGCGGGCTCCCAGC 0.751000 8 17 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 169 0 0 1 0 0 EPHB6 0 broad.mit.edu 37 7 142561054 142561054 + Silent SNP G G T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:142561054G>T ENST00000392957.2 + 5 856 c.69G>T c.(67-69)ctG>ctT p.L23L EPHB6_ENST00000442129.1_Silent_p.L23L|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 23 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TATGGGTGCTGCTCCTGGTGT 0.587000 9 95 0.000274275 0.00028058 1 1 0 TTN 7273 broad.mit.edu 37 2 179456396 179456396 + Silent SNP T T C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:179456396T>C ENST00000589042.1 - 303 60374 c.60150A>G c.(60148-60150)gtA>gtG p.V20050V TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.V18409V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V11110V|TTN_ENST00000342992.6_Silent_p.V17482V|TTN_ENST00000342175.6_Silent_p.V11177V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.V10985V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18409 Fibronectin type-III 45. 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) TTTCAGCTTTTACACGGAATC 0.393000 4 295 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27898498 27898498 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:27898498G>A ENST00000326019.6 + 6 1727 c.1445G>A c.(1444-1446)cGt>cAt p.R482H NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 482 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) GAGAAGAAGCGTCTGAACAGA 0.398000 52 63 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79312681 79312681 + Missense_Mutation SNP A A G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:79312681A>G ENST00000305089.3 - 5 450 c.370T>C c.(370-372)Tgg>Cgg p.W124R NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 124 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CCAGTGTCCCAGGACTTGTAG 0.542000 28 55 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19547384 19547384 + Silent SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr16:19547384G>A ENST00000396212.2 + 5 829 c.393G>A c.(391-393)acG>acA p.T131T CCP110_ENST00000396208.2_Silent_p.T131T|CCP110_ENST00000381396.5_Silent_p.T131T NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 131 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CAAGCCATACGGAACACTCTA 0.388000 34 24 0 0 1 0 0 FAM92A1P2 0 broad.mit.edu 37 4 183959228 183959228 + RNA SNP A A G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr4:183959228A>G ENST00000502308.1 + 0 411 NR_003612.1 AGCTTATGTAACCATTGTAAA 0.413000 16 8 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685531 111685531 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr3:111685531C>T ENST00000431670.2 + 14 3560 c.3149C>T c.(3148-3150)aCg>aTg p.T1050M PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000470699.2_3'UTR NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1050 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GCAGAAAAGACGCGGCTGCTC 0.478000 58 41 0 0 1 0 0 COX4I2 84701 broad.mit.edu 37 20 30231298 30231298 + Silent SNP T T C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr20:30231298T>C ENST00000376075.3 + 4 414 c.339T>C c.(337-339)atT>atC p.I113I COX4I2_ENST00000490030.1_Intron NM_032609.2 NP_115998.2 Q96KJ9 COX42_HUMAN cytochrome c oxidase subunit IV isoform 2 (lung) 113 cellular respiration cytochrome-c oxidase activity breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 11 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) TCTTCTTCATTGGATTCGCAG 0.562000 26 93 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39595476 39595476 + Silent SNP G G C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr17:39595476G>C ENST00000246646.3 - 3 710 c.711C>G c.(709-711)tcC>tcG p.S237S NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 237 Coil 1B.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) TGCTCTTGAGGGAGAGCTGCT 0.657000 30 40 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037528 50037528 + Missense_Mutation SNP A A G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr12:50037528A>G ENST00000261897.1 + 23 2884 c.2333A>G c.(2332-2334)cAc>cGc p.H778R PRPF40B_ENST00000380281.1_Missense_Mutation_p.H791R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|FMNL3_ENST00000335154.5_3'UTR Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 791 mRNA processing|RNA splicing nuclear speck p.H791R(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 AAGAGAAGACACAAGTCGGTG 0.463000 27 22 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41193149 41193149 + Silent SNP C C T rs12914973 byFrequency TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr15:41193149C>T ENST00000220509.5 + 4 2472 c.2133C>T c.(2131-2133)cgC>cgT p.R711R VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 711 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCCACCACCGCGCTTGTGTCC 0.632000 51 12 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 105 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196748322 196748322 + Missense_Mutation SNP A A C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr1:196748322A>C ENST00000471440.2 + 2 163 c.89A>C c.(88-90)cAt>cCt p.H30P CFHR3_ENST00000367425.4_Missense_Mutation_p.H30P|CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 GACATTAAACATGGAGGTCTA 0.289000 18 35 0 0 1 0 0 CCDC109B 55013 broad.mit.edu 37 4 110581405 110581405 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr4:110581405C>G ENST00000394650.4 + 3 363 c.230C>G c.(229-231)tCt>tGt p.S77C CCDC109B_ENST00000515114.1_3'UTR NM_017918.4 NP_060388.2 Q9NWR8 C109B_HUMAN coiled-coil domain containing 109B 77 integral to membrane breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) ACCTTGCCATCTAGAAAAGAA 0.328000 12 8 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63935628 63935628 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr15:63935628C>T ENST00000443617.2 - 58 11393 c.11306G>A c.(11305-11307)gGg>gAg p.G3769E NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3769 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GTTCATGAGCCCACCTAGTCC 0.418000 19 1 0 0 1 0 0 CRYBB3 1417 broad.mit.edu 37 22 25603098 25603098 + Silent SNP C C T rs140985147 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr22:25603098C>T ENST00000215855.2 + 6 635 c.555C>T c.(553-555)gaC>gaT p.D185D CRYBB3_ENST00000404334.1_3'UTR NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 185 Beta/gamma crystallin 'Greek key' 4. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 ATGAGTGGGACGCCAGCCAGC 0.652000 6 69 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62289071 62289071 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr11:62289071C>G ENST00000378024.4 - 5 13092 c.12818G>C c.(12817-12819)gGt>gCt p.G4273A AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4273 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCCACATCACCCTTCACCTT 0.493000 7 346 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116356592 116356592 + Silent SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr9:116356592C>T ENST00000462403.1 + 1 827 c.393C>T c.(391-393)aaC>aaT p.N131N RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 0 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GCAACGGGAACCTGCAGAGGC 0.622000 76 97 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110831116 110831116 + Missense_Mutation SNP A A G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr3:110831116A>G ENST00000485303.1 + 2 675 c.400A>G c.(400-402)Act>Gct p.T134A PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 134 Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TGCAACAATTACTCTGCATAA 0.393000 43 41 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183843586 183843586 + Missense_Mutation SNP T T C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:183843586T>C ENST00000360982.2 - 15 2175 c.1417A>G c.(1417-1419)Atg>Gtg p.M473V NCKAP1_ENST00000361354.3_Missense_Mutation_p.M467V NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 467 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AGGGAAGTCATAGTGTTAACA 0.279000 13 21 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74725174 74725174 + Splice_Site SNP C C T rs144019045 byFrequency TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr16:74725174C>T ENST00000308807.7 - 4 1186 c.e4+1 MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like ATP binding|protein binding|protein kinase activity p.?(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 aaacaacttacgcaatgcTGC 0.438000 132 154 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773361 145773361 + Missense_Mutation SNP T T C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr8:145773361T>C ENST00000276826.5 - 4 1310 c.1109A>G c.(1108-1110)cAg>cGg p.Q370R ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 370 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GAGCACCAGCTGCTGGCAGGG 0.706000 13 15 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 31 41 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176038 140176038 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:140176038C>T ENST00000526136.1 + 1 1489 c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGGAGCGGCGGGTGGG 0.672000 6 148 0 0 1 0 0 THOC6 79228 broad.mit.edu 37 16 3075763 3075763 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr16:3075763G>A ENST00000326266.8 + 2 390 c.94G>A c.(94-96)Gtc>Atc p.V32I THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 32 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 CTCCCAGAGCGTCTCACCATG 0.567000 20 92 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21721268 21721268 + Silent SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:21721268C>T ENST00000328843.6 + 31 5479 c.5448C>T c.(5446-5448)gaC>gaT p.D1816D DNAH11_ENST00000409508.3_Silent_p.D1811D Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1816 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATGCCAGAGACGTGGTGGCAA 0.398000 Kartagener syndrome 4 121 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96592232 96592232 + Silent SNP A A G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr13:96592232A>G ENST00000376747.3 - 16 1861 c.1791T>C c.(1789-1791)tcT>tcC p.S597S NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 597 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 CATCATATTTAGAATGAATTC 0.358000 14 28 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427110 97427110 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:97427110G>A ENST00000377075.2 + 1 472 c.374G>A c.(373-375)cGc>cAc p.R125H NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 125 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 AACGTGAGCCGCGGGAACACG 0.652000 4 149 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108487540 108487540 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:108487540C>G ENST00000408999.3 + 20 3157 c.3080C>G c.(3079-3081)gCc>gGc p.A1027G RGPD4_ENST00000354986.4_Missense_Mutation_p.A1027G NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1027 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GATGATGATGCCTATAAGACT 0.388000 166 199 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135546109 135546109 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr9:135546109G>A ENST00000372146.4 + 1 688 c.124G>A c.(124-126)Ggg>Agg p.G42R GTF3C4_ENST00000483873.2_Missense_Mutation_p.G42R NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 42 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) CGCGGCCCCGGGGCCCAGCGC 0.756000 3 0 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27239244 27239244 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr13:27239244C>G ENST00000361042.4 + 4 438 c.213C>G c.(211-213)gaC>gaG p.D71E WASF3_ENST00000335327.5_Missense_Mutation_p.D71E|WASF3_ENST00000496788.1_3'UTR Q9UPY6 WASF3_HUMAN WAS protein family, member 3 71 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CTCTTCAAGACAGAATTGATC 0.408000 15 42 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624246 53624246 + Silent SNP G G A rs147184057 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr13:53624246G>A ENST00000219022.2 + 5 951 c.873G>A c.(871-873)gcG>gcA p.A291A NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 291 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ATTGGGTGGCGCCATTGAATA 0.448000 49 61 0 0 1 0 0 SPRY4 81848 broad.mit.edu 37 5 141693969 141693969 + Nonsense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:141693969C>T ENST00000344120.4 - 3 960 c.774G>A c.(772-774)tgG>tgA p.W258* SPRY4_ENST00000434127.2_Nonsense_Mutation_p.W235* NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 235 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGAAGGACCAGCGGGCGC 0.662000 Testicular Cancer, Familial Clustering of 29 28 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495073 71495073 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:71495073C>G ENST00000296755.7 + 5 6189 c.5891C>G c.(5890-5892)aCc>aGc p.T1964S NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1964 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAAAAGACCACCAGCCCCCCC 0.473000 6 83 0 0 1 0 0 CEP72 55722 broad.mit.edu 37 5 620335 620335 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:620335G>A ENST00000264935.5 + 3 452 c.362G>A c.(361-363)cGc>cAc p.R121H CEP72_ENST00000444221.1_Missense_Mutation_p.R121H NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 121 LRRCT. G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CCTGACTACCGCCTTTTTGTT 0.602000 48 77 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140182696 140182696 + Silent SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:140182696C>T ENST00000522353.2 + 1 1914 c.1914C>T c.(1912-1914)gaC>gaT p.D638D PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.D638D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCCTGGACGAGGTGGACG 0.667000 11 143 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24187513 24187513 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr8:24187513C>T ENST00000265769.4 + 11 1098 c.988C>T c.(988-990)Ctt>Ttt p.L330F RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L77F|ADAM28_ENST00000437154.2_Missense_Mutation_p.L330F|ADAM28_ENST00000540823.1_Missense_Mutation_p.L97F|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 330 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAGCGATAATCTTCTTAGAGT 0.388000 7 128 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35913795 35913795 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr17:35913795C>T ENST00000339208.6 - 14 2170 c.2030G>A c.(2029-2031)gGg>gAg p.G677E SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 677 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGAATATTCCCCAAAAAGGCT 0.433000 39 58 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67690171 67690171 + Silent SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr16:67690171G>A ENST00000334583.6 + 34 4111 c.3783G>A c.(3781-3783)tcG>tcA p.S1261S RLTPR_ENST00000545661.1_Silent_p.S1225S NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 1261 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTCCCATCTCGATCAAGTCCC 0.582000 11 169 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124953096 124953096 + Missense_Mutation SNP G G C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr3:124953096G>C ENST00000360647.4 - 8 1230 c.745C>G c.(745-747)Cat>Gat p.H249D SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 249 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TCTCCACTATGAGTTCTCTTA 0.303000 31 42 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21458174 21458174 + Silent SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr14:21458174C>T ENST00000339374.6 + 1 246 c.13C>T c.(13-15)Ctg>Ttg p.L5L METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Silent_p.L5L|METTL17_ENST00000556670.2_Silent_p.L5L NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 5 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 GGCGGCGGCACTGAAGTGTCT 0.617000 48 32 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37268400 37268400 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:37268400C>T ENST00000233099.5 - 19 2827 c.2732G>A c.(2731-2733)gGt>gAt p.G911D HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 911 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CAATGAATGACCAGTCCTAGA 0.388000 24 71 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20767947 20767947 + Silent SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:20767947G>A ENST00000404938.2 + 23 3388 c.2736G>A c.(2734-2736)tcG>tcA p.S912S ABCB5_ENST00000258738.6_Silent_p.S467S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 467 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAAATACCTCGAAGAAAGCAC 0.353000 52 145 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102453840 102453840 + Missense_Mutation SNP T T G rs141623741 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:102453840T>G ENST00000393772.2 - 19 2499 c.2073A>C c.(2071-2073)ttA>ttC p.L691F FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000313221.4_Missense_Mutation_p.L719F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 719 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CTGTTAATTCTAAGGCTCCTT 0.418000 44 98 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56763754 56763754 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr14:56763754C>G ENST00000267460.4 + 6 1419 c.1133C>G c.(1132-1134)gCa>gGa p.A378G NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 378 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 GAGAAGTCTGCAAAATACTGG 0.532000 39 85 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581347 33581347 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr11:33581347G>A ENST00000321505.4 + 6 3197 c.3017G>A c.(3016-3018)gGc>gAc p.G1006D KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1012D|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G1012D KIAA1549-like TACGTCGTGGGCAATCAGAGC 0.577000 4 180 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259601 89259601 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr3:89259601G>A ENST00000336596.2 + 3 970 c.745G>A c.(745-747)Gaa>Aaa p.E249K EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 249 Cys-rich. extracellular region|integral to plasma membrane ATP binding p.E249K(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TACAGAAGGCGAATGGCTTGT 0.473000 TSP Lung(6;0.00050) 133 182 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985704 36985704 + Nonsense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:36985704C>T ENST00000282516.8 + 10 2921 c.2422C>T c.(2422-2424)Cga>Tga p.R808* NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 808 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACCTGATGGGCGATCTGTTTC 0.428000 32 45 0 0 1 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44363948 44363948 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr1:44363948C>T ENST00000262915.3 + 8 823 c.646C>T c.(646-648)Cgc>Tgc p.R216C ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 147 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) CAAAGAGTACCGCCTGACCCC 0.537000 48 12 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155287390 155287390 + Silent SNP C C T rs78251264 byFrequency TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr4:155287390C>T ENST00000357232.3 - 5 665 c.666G>A c.(664-666)tcG>tcA p.S222S DCHS2_ENST00000339452.1_Silent_p.S816S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 222 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TAAAAAGGGACGACACGTTTC 0.448000 20 38 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083749 1083749 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr11:1083749G>A ENST00000441003.2 + 18 2308 c.2281G>A c.(2281-2283)Gcc>Acc p.A761T MUC2_ENST00000359061.5_Missense_Mutation_p.A761T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 761 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGGCTGCACGGCCCCAAAGAT 0.701000 12 26 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1219196 1219196 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:1219196C>T ENST00000304460.10 + 9 1408 c.1352C>T c.(1351-1353)cCg>cTg p.P451L NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 451 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GTCATCCCCCCGAAGTGGCCC 0.607000 3 38 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16689996 16689996 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr5:16689996C>T ENST00000513610.1 - 28 4287 c.3833G>A c.(3832-3834)gGg>gAg p.G1278E MYO10_ENST00000515803.1_Missense_Mutation_p.G617E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E|MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000427430.2_Missense_Mutation_p.G635E NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1278 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GATGTCGATCCCATTCTCCTT 0.463000 11 49 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51289979 51289979 + Missense_Mutation SNP T T C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr15:51289979T>C ENST00000261842.5 + 18 2909 c.2803T>C c.(2803-2805)Tgg>Cgg p.W935R AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R|AP4E1_ENST00000561397.1_3'UTR NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 935 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TTATAAAATTTGGAAAGATGA 0.308000 5 23 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 126 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127572206 127572206 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr9:127572206C>T ENST00000373580.3 + 8 1474 c.1474C>T c.(1474-1476)Cgg>Tgg p.R492W OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 492 Olfactomedin-like. endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GTACGACCTACGGCAGCGCTT 0.592000 60 90 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52233389 52233389 + Silent SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr8:52233389G>A ENST00000356297.4 - 22 4315 c.4215C>T c.(4213-4215)gcC>gcT p.A1405A PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1405 VWFC. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGCGCTCCTCGGCCTTCCTTG 0.527000 115 115 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136507441 136507441 + Missense_Mutation SNP C C G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr9:136507441C>G ENST00000393056.2 + 3 611 c.599C>G c.(598-600)cCc>cGc p.P200R NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 200 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CTCCTGAAGCCCAATATCCCC 0.622000 26 47 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170101367 170101367 + Missense_Mutation SNP C C T rs143115109 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:170101367C>T ENST00000263816.3 - 22 3551 c.3266G>A c.(3265-3267)cGc>cAc p.R1089H LRP2_ENST00000443831.1_Missense_Mutation_p.R952H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1089 LDL-receptor class A 9. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACAGTCGTTGCGTTTGTCACA 0.517000 77 114 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110884445 110884445 + Missense_Mutation SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr4:110884445G>A ENST00000265171.5 + 9 1874 c.1429G>A c.(1429-1431)Gca>Aca p.A477T EGF_ENST00000509793.1_Missense_Mutation_p.A435T|EGF_ENST00000503392.1_Missense_Mutation_p.A477T NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 477 EGF-like 4. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AAAAAGCTGTGCAGCTTCAGG 0.423000 62 94 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120151065 120151065 + Missense_Mutation SNP T T C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr12:120151065T>C ENST00000392521.2 - 35 4577 c.4522A>G c.(4522-4524)Aag>Gag p.K1508E CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K1466E NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1466 PH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ACAATGTACTTCCTGTCCCAG 0.443000 131 154 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 6 611 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084076 9084076 + Missense_Mutation SNP G G T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr19:9084076G>T ENST00000397910.4 - 1 7942 c.7739C>A c.(7738-7740)aCa>aAa p.T2580K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2580 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGGTGGGTGTAGTTGGGGT 0.483000 15 120 1.15088e-07 1.20504e-07 1 1 0 RRN3P1 0 broad.mit.edu 37 16 21809167 21809167 + RNA SNP G G A rs141895991 by1000genomes TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr16:21809167G>A ENST00000546471.1 - 0 2028 CAGACTCTGAGGATACTGCAA 0.338000 5 36 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655844 12655844 + Silent SNP G G A rs150316964 byFrequency TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr17:12655844G>A ENST00000425538.1 + 10 1439 c.1239G>A c.(1237-1239)ccG>ccA p.P413P MYOCD_ENST00000395988.1_Silent_p.P317P|MYOCD_ENST00000343344.4_Silent_p.P413P NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 413 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 p.P413P(2) 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) ACCCAGTGCCGAACTTTGGGG 0.552000 55 76 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11363187 11363187 + Missense_Mutation SNP G G C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr10:11363187G>C ENST00000379261.4 + 11 1185 c.1093G>C c.(1093-1095)Gga>Cga p.G365R CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000315874.3_Missense_Mutation_p.G347R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 365 Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 GGCTCTGAATGGAGGACTTGG 0.517000 35 68 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135546108 135546108 + Silent SNP G G T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr9:135546108G>T ENST00000372146.4 + 1 687 c.123G>T c.(121-123)ccG>ccT p.P41P GTF3C4_ENST00000483873.2_Silent_p.P41P NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 41 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ACGCGGCCCCGGGGCCCAGCG 0.761000 3 0 0.150653 0.150653 1 1 0 SSPO 23145 broad.mit.edu 37 7 149516518 149516518 + RNA SNP G G A TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:149516518G>A ENST00000378016.2 + 0 11921 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGGGCATACCGTCCCCCTGGG 0.711000 8 47 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27849514 27849514 + Nonsense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr17:27849514C>T ENST00000261716.3 + 17 2644 c.2125C>T c.(2125-2127)Cga>Tga p.R709* TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 709 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) CATGGAAGTTCGACAACAGCC 0.398000 52 71 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15609937 15609937 + Missense_Mutation SNP C C T TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chrX:15609937C>T ENST00000427411.1 - 5 698 c.482G>A c.(481-483)aGg>aAg p.R161K ACE2_ENST00000252519.3_Missense_Mutation_p.R161K NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 161 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) AGCCCAGAGCCTCTCATTGTA 0.398000 6 277 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232320164 232320164 + Frame_Shift_Del DEL A A - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr2:232320164delA ENST00000322723.4 - 13 2244 c.2004delT c.(2002-2004)ggfs p.G669fs NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 669 Arg/Gly/Phe-rich. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) CTCCTCTACCACCACCTCGTC 0.567 8 539 --- --- --- --- WNT16 51384 broad.mit.edu 37 7 120969426 120969426 + Frame_Shift_Del DEL C C - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:120969426delC ENST00000222462.2 + 1 370 c.80delC c.(79-81)gcfs p.A27fs WNT16_ENST00000361301.2_Intron NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 27 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) CCCTACGGAGCCCAAGGAAAC 0.647 33 25 --- --- --- --- ASB15 142685 broad.mit.edu 37 7 123269087 123269088 + Frame_Shift_Del DEL GA GA - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:123269087_123269088delGA ENST00000451558.1 + 12 1560_1561 c.1039_1040delGA c.(1039-1041)cfs p.D348fs ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 348 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CCAGAGCTATGACGATGAGAGG 0.455 55 162 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 9 12 --- --- --- --- PPP2R2A 5520 broad.mit.edu 37 8 26227744 26227761 + In_Frame_Del DEL AAGCCTCGCACAGTTCTG AAGCCTCGCACAGTTCTG - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG ENST00000380737.3 + 10 1488_1505 c.1159_1176delAAGCCTCGCACAGTTCTG c.(1159-1176)del p.KPRTVL387del PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha p.R389H(1)|p.R389R(1) kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA 0.431 18 37 --- --- --- --- TSPAN32 10077 broad.mit.edu 37 11 2337873 2337874 + Frame_Shift_Ins INS - - G TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr11:2337873_2337874insG ENST00000182290.4 + 8 832_833 c.695_696insG c.(694-696)aggfs p.R232fs TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.R221fs|TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.R232fs NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 232 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TTGGACCGCAAGGGCAAATACA 0.658 75 78 --- --- --- --- SLCO2B1 11309 broad.mit.edu 37 11 74904334 74904335 + Frame_Shift_Ins INS - - TG TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr11:74904334_74904335insTG ENST00000289575.5 + 9 1542_1543 c.1147_1148insTG c.(1147-1149)gtcfs p.V383fs SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.V156fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.V128fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.V267fs|SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.V156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.V239fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.V361fs NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 383 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CCAGGTATGCTTGTCATCCATG 0.624 71 91 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102745470 102745473 + RNA DEL CAAA CAAA - rs28360358 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr11:102745470_102745473delCAAA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TACGTAAaagcaaacaaacaaaca 0.324 5 6 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 3 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795608 42795609 + Frame_Shift_Ins INS - - C TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28c7b83b-417b-4a76-97cb-a6d8295c7122 eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9 g.chr19:42795608_42795609insC ENST00000572681.2 + 11 5483_5484 c.5415_5416insC c.(5413-5418)ccccccfs p.PP1805fs CIC_ENST00000160740.3_Frame_Shift_Ins_p.PP896fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.PP896fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 896 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCTCCGCCCCACCCCCCAAAGG 0.609 """Mis, F, S""" oligodendroglioma 88 17 --- --- --- ---