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 SLC5A1 6523 broad.mit.edu 37 22 32500800 32500800 + Missense_Mutation SNP A A T rs33948878 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr22:32500800A>T ENST00000266088.4 + 14 1943 c.1693A>T c.(1693-1695)Aac>Tac p.N565Y SLC5A1_ENST00000543737.1_Missense_Mutation_p.N438Y NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 565 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GAGCCTGCGCAACAGCAAAGA 0.507000 13 24 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70493920 70493920 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:70493920G>T ENST00000310961.5 + 19 2180 c.1762G>T c.(1762-1764)Gtt>Ttt p.V588F RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.V583F Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 583 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGTAAAATCTGTTCAAAATTT 0.338000 20 96 1.01871e-10 1.40806e-10 1 1 0 ATF5 22809 broad.mit.edu 37 19 50435872 50435872 + Silent SNP A A C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:50435872A>C ENST00000423777.2 + 3 749 c.372A>C c.(370-372)ccA>ccC p.P124P CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Silent_p.P124P NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 124 Interaction with PTP4A1 (By similarity).|Poly-Pro. regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCCTCccaccaccctccccgc 0.642000 3 2 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51754523 51754523 + Silent SNP G G A rs138065864 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:51754523G>A ENST00000543196.2 - 6 1354 c.1149C>T c.(1147-1149)aaC>aaT p.N383N GALNT6_ENST00000356317.3_Silent_p.N383N Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 383 Catalytic subdomain B. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.N383N(1) endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ACATTTCCACGTTCTCCCCTC 0.542000 13 103 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158590250 158590250 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:158590250C>A ENST00000368148.3 - 44 6307 c.6127G>T c.(6127-6129)Gac>Tac p.D2043Y SPTA1_ENST00000368147.3_Missense_Mutation_p.D2040Y NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2043 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACGAACAGGTCCTCAGCCTGC 0.418000 34 74 2.38352e-08 3.09975e-08 1 1 0 ESX1 80712 broad.mit.edu 37 X 103495260 103495260 + Silent SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:103495260G>T ENST00000372588.4 - 4 953 c.870C>A c.(868-870)cgC>cgA p.R290R NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 290 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 CAGGCGCCATGCGTGGCCCGG 0.736000 26 27 2.44723e-14 3.60932e-14 1 1 0 MUC16 94025 broad.mit.edu 37 19 9075071 9075071 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:9075071C>T ENST00000397910.4 - 3 12578 c.12375G>A c.(12373-12375)acG>acA p.T4125T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4127 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 ATCTCTGAGTCGTAGCCAGTG 0.502000 9 59 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121348857 121348857 + Missense_Mutation SNP T T C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:121348857T>C ENST00000260197.7 + 3 562 c.433T>C c.(433-435)Ttc>Ctc p.F145L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 145 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGGAAAATCATTCAAGAAAAT 0.413000 5 77 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58016058 58016058 + Missense_Mutation SNP T T C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:58016058T>C ENST00000599847.1 + 2 209 c.67T>C c.(67-69)Tac>Cac p.Y23H AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000282292.4_Missense_Mutation_p.Y23H|ZNF773_ENST00000598770.1_Missense_Mutation_p.Y22H|ZNF773_ENST00000593916.1_Missense_Mutation_p.Y22H Q6PK81 ZN773_HUMAN zinc finger protein 773 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) CGTGGCTGTCTACTTCTCCCA 0.502000 20 120 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841673 5841673 + Missense_Mutation SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:5841673G>C ENST00000317037.2 + 1 130 c.108G>C c.(106-108)atG>atC p.M36I TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGCTTTATGTACATCATTG 0.562000 36 85 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50095896 50095896 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:50095896G>A ENST00000443081.1 + 10 2554 c.1635G>A c.(1633-1635)gaG>gaA p.E545E RBM6_ENST00000266022.4_Silent_p.E677E|RBM6_ENST00000442092.1_Silent_p.E155E|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Silent_p.E19E|RBM6_ENST00000422955.1_Silent_p.E155E P78332 RBM6_HUMAN RNA binding motif protein 6 677 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AAGTGCTGGAGCCCTATGTCC 0.502000 41 195 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100896392 100896392 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:100896392C>A ENST00000369208.3 - 7 1488 c.706G>T c.(706-708)Gcc>Tcc p.A236S SIM1_ENST00000262901.4_Missense_Mutation_p.A236S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 236 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCCAGGCTGGCGCGGAACATA 0.622000 6 33 0.00116845 0.00127467 1 1 0 ROBO1 6091 broad.mit.edu 37 3 78717321 78717321 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:78717321C>T ENST00000436010.2 - 11 2642 c.1645G>A c.(1645-1647)Gga>Aga p.G549R ROBO1_ENST00000464233.1_Missense_Mutation_p.G588R|ROBO1_ENST00000467549.1_Missense_Mutation_p.G552R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G552R Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 588 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGAGTTGCTCCTGAATTCAAA 0.388000 13 54 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21992515 21992515 + Missense_Mutation SNP T T G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:21992515T>G ENST00000594012.1 - 7 820 c.306A>C c.(304-306)gaA>gaC p.E102D ZNF43_ENST00000354959.4_Missense_Mutation_p.E108D|ZNF43_ENST00000598381.1_Missense_Mutation_p.E102D|ZNF43_ENST00000595461.1_Missense_Mutation_p.E102D NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CATTTTTATGTTCACAGTTTT 0.358000 38 91 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 2116020 2116020 + Silent SNP G G T rs149364876 byFrequency TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:2116020G>T ENST00000380815.4 - 4 599 c.330C>A c.(328-330)gcC>gcA p.A110A GMDS_ENST00000530927.1_Silent_p.A80A NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 110 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CGTGGCTCTGGGCTCCAAGGT 0.448000 7 161 2.0095e-06 2.43352e-06 1 1 0 FLRT3 23767 broad.mit.edu 37 20 14306503 14306503 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr20:14306503C>A ENST00000378053.3 - 2 1906 c.1650G>T c.(1648-1650)tgG>tgT p.W550C MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.W550C|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 550 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TATGAACATACCAACACACTA 0.458000 53 124 4.86159e-25 7.68539e-25 1 1 0 TGM7 116179 broad.mit.edu 37 15 43569147 43569147 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr15:43569147G>A ENST00000452443.2 - 12 1890 c.1886C>T c.(1885-1887)aCc>aTc p.T629I NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 629 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GTTGGTGAGGGTGACATGGAC 0.567000 27 35 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141643728 141643728 + Nonsense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:141643728C>A ENST00000389484.3 - 24 4914 c.3943G>T c.(3943-3945)Gga>Tga p.G1315* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1315 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAAAGCTTTCCCCGGTATATT 0.303000 TSP Lung(27;0.18) 14 30 0.000308642 0.000348211 1 1 0 STK11 6794 broad.mit.edu 37 19 1220487 1220487 + Missense_Mutation SNP G G T rs121913315 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:1220487G>T ENST00000326873.7 + 4 1753 c.580G>T c.(580-582)Gac>Tac p.D194Y NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 194 Protein kinase. D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAATCTCCGACCTGGGCGT 0.677000 D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER) 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 4 4 0.150653 0.154157 1 1 0 SEMA5A 9037 broad.mit.edu 37 5 9154749 9154749 + Missense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:9154749C>G ENST00000382496.5 - 12 1997 c.1332G>C c.(1330-1332)ttG>ttC p.L444F NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 444 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCTCTTCCAGCAAACAGCTGC 0.547000 16 137 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934621 44934621 + Missense_Mutation SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:44934621A>T ENST00000291187.4 - 6 639 c.317T>A c.(316-318)gTg>gAg p.V106E ZNF229_ENST00000588931.1_Missense_Mutation_p.V112E|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 112 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TTCACCTGCCACCTCTTCCCA 0.443000 30 57 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55184186 55184186 + Missense_Mutation SNP T T C rs142496479 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:55184186T>C ENST00000337714.3 + 2 1594 c.1361T>C c.(1360-1362)aTc>aCc p.I454T AKAP1_ENST00000314126.3_Missense_Mutation_p.I454T|AKAP1_ENST00000572557.1_Missense_Mutation_p.I454T|AKAP1_ENST00000539273.1_Missense_Mutation_p.I454T|AKAP1_ENST00000571629.1_Missense_Mutation_p.I454T NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 454 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AAGCCAAATATCTCTGCACAC 0.602000 23 104 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33288951 33288951 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:33288951C>T ENST00000374542.5 - 3 805 c.601G>A c.(601-603)Gag>Aag p.E201K DAXX_ENST00000266000.6_Missense_Mutation_p.E201K|DAXX_ENST00000414083.2_Missense_Mutation_p.E126K|DAXX_ENST00000477162.1_Intron NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 201 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 CGCCGGATCTCTGCCACATAG 0.582000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 27 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154802 5154802 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:5154802G>T ENST00000252321.3 + 1 1718 c.1489G>T c.(1489-1491)Ggc>Tgc p.G497C NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 497 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CAAGATCGTGGGCTCGCTGTG 0.597000 28 104 8.24728e-16 1.2301e-15 1 1 0 C2orf49 79074 broad.mit.edu 37 2 105959428 105959428 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:105959428G>A ENST00000258457.2 + 3 619 c.390G>A c.(388-390)ccG>ccA p.P130P C2orf49_ENST00000437250.2_Silent_p.P168P|C2orf49_ENST00000410049.1_Silent_p.P130P Q9BVC5 ASHWN_HUMAN chromosome 2 open reading frame 49 130 tRNA-splicing ligase complex endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 AGCCTCCCCCGCAGGCAAGCT 0.393000 19 82 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325147 57325147 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:57325147C>A ENST00000326441.9 - 10 5026 c.4663G>T c.(4663-4665)Ggt>Tgt p.G1555C PEG3_ENST00000593695.1_Missense_Mutation_p.G1429C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1431C|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1555C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1555 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGATTGGCACCACCTGTGCTG 0.522000 31 71 7.01153e-11 9.74234e-11 1 1 0 FAM47A 158724 broad.mit.edu 37 X 34150217 34150217 + Missense_Mutation SNP T T C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:34150217T>C ENST00000346193.3 - 1 230 c.179A>G c.(178-180)tAc>tGc p.Y60C NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 60 p.Y60C(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CGGACAGCCGTAGCGGAAGTC 0.562000 43 67 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94401017 94401017 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:94401017G>A ENST00000555019.1 - 10 2323 c.1893C>T c.(1891-1893)taC>taT p.Y631Y ASB2_ENST00000315988.4_Silent_p.Y583Y NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 583 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GGGTGTTCTCGTATTTCAGGT 0.542000 10 48 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977588 12977588 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:12977588G>A ENST00000273221.4 - 3 1186 c.970C>T c.(970-972)Cgg>Tgg p.R324W NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 324 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTGGACGGCCGGTCCCCTGCC 0.667000 16 49 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767986 150767986 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:150767986C>T ENST00000485713.1 + 12 2777 c.1737C>T c.(1735-1737)ctC>ctT p.L579L SLC4A2_ENST00000392826.2_Silent_p.L570L|SLC4A2_ENST00000413384.2_Silent_p.L579L|SLC4A2_ENST00000310317.5_Silent_p.L497L|SLC4A2_ENST00000461735.1_Silent_p.L565L NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 579 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTCCACCCTCATGTCAGACA 0.622000 7 56 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57095848 57095848 + Silent SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:57095848G>T ENST00000278412.2 - 13 1800 c.1534C>A c.(1534-1536)Cgg>Agg p.R512R NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 512 Arg/Lys-rich (basic). DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TTCTCATCCCGGTCACTGTCA 0.567000 21 51 2.32416e-17 3.56731e-17 1 1 0 KCNK10 54207 broad.mit.edu 37 14 88729651 88729651 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:88729651C>T ENST00000340700.5 - 2 733 c.282G>A c.(280-282)gaG>gaA p.E94E KCNK10_ENST00000319231.5_Silent_p.E99E|KCNK10_ENST00000312350.5_Silent_p.E99E NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 94 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CAAAGGGCTGCTCCAATGCCC 0.567000 5 90 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70465083 70465083 + Missense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:70465083C>G ENST00000503640.1 - 2 800 c.745G>C c.(745-747)Ggg>Cgg p.G249R UGT2A2_ENST00000457664.2_Missense_Mutation_p.G258R|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Missense_Mutation_p.G249R|UGT2A1_ENST00000286604.4_Missense_Mutation_p.G293R|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G459R NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 249 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TCAGCTTTCCCCATAGTCTCA 0.388000 13 72 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206480 49206480 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:49206480C>T ENST00000425340.2 + 2 384 c.267C>T c.(265-267)aaC>aaT p.N89N FUT2_ENST00000391876.4_Silent_p.N89N NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 89 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) CCAAGATGAACGGGCGGCCCG 0.657000 5 36 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168343 64168343 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:64168343G>A ENST00000395391.1 + 4 3036 c.1661G>A c.(1660-1662)tGt>tAt p.C554Y ZNF107_ENST00000423627.1_Missense_Mutation_p.C554Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.C554Y Q9UII5 ZN107_HUMAN zinc finger protein 107 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CCCTACAAATGTGAAGAACAT 0.353000 16 76 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187576 62187576 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr20:62187576G>A ENST00000370098.3 + 2 652 c.560G>A c.(559-561)cGc>cAc p.R187H C20orf195_ENST00000370097.1_Missense_Mutation_p.R187H NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 187 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GTCAAGCACCGCCTGGTGTCT 0.647000 7 164 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165983 151165983 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:151165983G>A ENST00000282466.3 - 4 1785 c.1786C>T c.(1786-1788)Cat>Tat p.H596Y NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 596 Ig-like C2-type 2. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGTAGAATGGCATGGAAGA 0.418000 19 124 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887047 3887047 + Missense_Mutation SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:3887047T>A ENST00000319331.3 + 2 1483 c.722T>A c.(721-723)cTt>cAt p.L241H SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 241 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CTGGATAGCCTTGAGAGCCTG 0.403000 39 170 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81025640 81025640 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:81025640C>A ENST00000555265.1 - 21 3238 c.2863G>T c.(2863-2865)Gta>Tta p.V955L CEP128_ENST00000281129.3_Missense_Mutation_p.V955L Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 955 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 AATGCAATTACACGGTCCTGC 0.328000 15 74 0.00074312 0.000827779 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113219572 113219572 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:113219572G>A ENST00000401783.2 - 21 3973 c.3637C>T c.(3637-3639)Cgt>Tgt p.R1213C SVEP1_ENST00000374469.1_Missense_Mutation_p.R1190C|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R1213C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1213 EGF-like 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACATAACCACGCCCAAGTTGC 0.363000 11 48 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131761949 131761949 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:131761949G>T ENST00000372577.2 + 34 3729 c.3708G>T c.(3706-3708)gaG>gaT p.E1236D NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1236 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 ATGTCTGTGAGACCCTCCAAG 0.547000 4 41 0.00024832 0.000282571 1 1 0 C16orf62 57020 broad.mit.edu 37 16 19590415 19590415 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr16:19590415C>T ENST00000438132.3 + 6 790 c.742C>T c.(742-744)Cgg>Tgg p.R248W C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Missense_Mutation_p.R248W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R159W|C16orf62_ENST00000251143.5_Missense_Mutation_p.R159W|C16orf62_ENST00000538853.1_Missense_Mutation_p.A266V|C16orf62_ENST00000448695.1_Missense_Mutation_p.R37W NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 159 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 AGAGAAGGTGCGGACCCGGCT 0.517000 3 33 0 0 1 0 0 NSUN5P1 155400 broad.mit.edu 37 7 75044244 75044244 + RNA SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:75044244G>A ENST00000393633.2 + 0 3508 large_intestine(1)|lung(1) 2 TTCCCGCCCAGACAGATCTGC 0.547000 10 43 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129174 83129174 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:83129174G>A ENST00000329312.4 + 4 1495 c.1458G>A c.(1456-1458)atG>atA p.M486I NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 486 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 CTACTGAAATGGAATCTGATT 0.338000 12 23 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22710812 22710812 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr21:22710812G>T ENST00000400546.1 + 8 1251 c.1002G>T c.(1000-1002)tgG>tgT p.W334C NCAM2_ENST00000535285.1_Missense_Mutation_p.W359C|NCAM2_ENST00000284894.7_Missense_Mutation_p.W192C NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 334 Ig-like C2-type 4. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAATCACTTGGAAAAGAGCTG 0.398000 10 28 9.70103e-10 1.30004e-09 1 1 0 OR4A16 81327 broad.mit.edu 37 11 55111534 55111534 + Silent SNP G G T rs77217348 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:55111534G>T ENST00000314721.2 + 1 908 c.858G>T c.(856-858)tcG>tcT p.S286S NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TAATATACTCGTTGAGACAAT 0.303000 6 47 0.00116845 0.00127467 1 1 0 NEURL1 9148 broad.mit.edu 37 10 105330838 105330838 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:105330838C>A ENST00000369780.4 + 2 704 c.295C>A c.(295-297)Ccg>Acg p.P99T NEURL_ENST00000369777.2_Missense_Mutation_p.P82T NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 99 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CAGCAACCGCCCGGTCCTCAT 0.662000 22 40 8.10497e-08 1.0387e-07 1 1 0 GPR37 2861 broad.mit.edu 37 7 124387291 124387291 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:124387291G>A ENST00000303921.2 - 2 1780 c.1130C>T c.(1129-1131)tCc>tTc p.S377F NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 377 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AGTTGTTGAGGAACAGTTTTC 0.483000 14 81 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C 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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 18 0.00307968 0.00334582 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141949 29141949 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:29141949C>A ENST00000377167.2 + 1 639 c.537C>A c.(535-537)ttC>ttA p.F179L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 ATCACTTCTTCTGTGAAGTTC 0.453000 11 280 1.08611e-07 1.37852e-07 1 1 0 OR10K1 391109 broad.mit.edu 37 1 158436191 158436191 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:158436191C>A ENST00000289451.2 + 1 920 c.840C>A c.(838-840)atC>atA p.I280I NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CATACACCATCCTTACCCCAT 0.393000 48 128 3.61183e-13 5.18219e-13 1 1 0 JPH1 56704 broad.mit.edu 37 8 75227431 75227431 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:75227431C>A ENST00000342232.4 - 2 844 c.804G>T c.(802-804)ccG>ccT p.P268P NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 268 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GGTCTTCCACCGGGCAAAAAT 0.582000 17 121 2.23348e-06 2.65604e-06 1 1 0 SULF2 55959 broad.mit.edu 37 20 46307466 46307466 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr20:46307466C>A ENST00000359930.4 - 8 1998 c.1147G>T c.(1147-1149)Ggg>Tgg p.G383W SULF2_ENST00000484875.1_Missense_Mutation_p.G383W|SULF2_ENST00000467815.1_Missense_Mutation_p.G383W|SULF2_ENST00000361612.4_Missense_Mutation_p.G383W|CTD-2653D5.1_ENST00000526566.2_RNA NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 383 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ATGGATTTCCCGTCCATATCC 0.617000 52 134 1.81118e-26 2.89789e-26 1 1 0 USH2A 7399 broad.mit.edu 37 1 216595563 216595563 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:216595563C>A ENST00000366943.2 - 2 502 c.116G>T c.(115-117)aGg>aTg p.R39M USH2A_ENST00000307340.3_Missense_Mutation_p.R39M|USH2A_ENST00000366942.3_Missense_Mutation_p.R39M O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 39 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTCTCCAGCCTTGGGAAAAG 0.468000 HNSCC(13;0.011) 33 104 2.70662e-09 3.57274e-09 1 1 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 4 29 1 1 1 1 0 OR2T12 127064 broad.mit.edu 37 1 248458125 248458125 + Silent SNP A A G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:248458125A>G ENST00000317996.1 - 1 755 c.756T>C c.(754-756)gcT>gcC p.A252A NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TAAAAATGCCAGCTCCATAAA 0.498000 18 161 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55405857 55405857 + Silent SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:55405857T>A ENST00000314612.2 + 1 24 c.24T>A c.(22-24)acT>acA p.T8T NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 ATAATAGCACTTTGTTTATTC 0.323000 18 152 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066318 70066318 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:70066318C>A ENST00000446444.1 - 6 1438 c.1430G>T c.(1429-1431)cGa>cTa p.R477L RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 477 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GGCTGCAACTCGAAGGTGTTT 0.458000 37 135 6.19805e-25 9.73979e-25 1 1 0 DAPK1 1612 broad.mit.edu 37 9 90321495 90321495 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:90321495G>T ENST00000469640.2 + 27 3959 c.3584G>T c.(3583-3585)tGg>tTg p.W1195L DAPK1_ENST00000358077.5_Missense_Mutation_p.W1170L|DAPK1_ENST00000472284.1_Missense_Mutation_p.W1170L|DAPK1_ENST00000491893.1_Missense_Mutation_p.W1104L|DAPK1_ENST00000408954.3_Missense_Mutation_p.W1170L P53355 DAPK1_HUMAN death-associated protein kinase 1 1170 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 ATCCGCCTGTGGGTGAATGGC 0.647000 Chronic Lymphocytic Leukemia, Familial Clustering of 7 29 0.0293803 0.0306577 1 1 0 COL21A1 81578 broad.mit.edu 37 6 56047371 56047371 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:56047371G>T ENST00000244728.5 - 2 443 c.46C>A c.(46-48)Ctt>Att p.L16I COL21A1_ENST00000370819.1_Missense_Mutation_p.L16I|COL21A1_ENST00000535941.1_Missense_Mutation_p.L16I NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 16 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GAATTCTGAAGAAGCAGCACC 0.343000 5 11 0.014758 0.0155223 1 1 0 FLG2 388698 broad.mit.edu 37 1 152331269 152331269 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:152331269C>A ENST00000388718.5 - 2 164 c.92G>T c.(91-93)gGt>gTt p.G31V FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 31 EF-hand 1.|S-100-like (By similarity). calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTTAGTTCACCCTTGCTCAG 0.468000 13 185 7.03913e-09 9.24542e-09 1 1 0 CALCB 797 broad.mit.edu 37 11 15098897 15098897 + Missense_Mutation SNP T T G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:15098897T>G ENST00000523376.1 + 9 1585 c.323T>G c.(322-324)cTg>cGg p.L108R CALCB_ENST00000324229.6_Missense_Mutation_p.L97R|CALCB_ENST00000533448.1_Missense_Mutation_p.L97R P10092 CALCB_HUMAN calcitonin-related polypeptide beta 97 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 GCAGGCTTGCTGAGCAGATCA 0.567000 13 44 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108216545 108216545 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:108216545C>T ENST00000278616.4 + 58 8879 c.8494C>T c.(8494-8496)Cgt>Tgt p.R2832C ATM_ENST00000452508.2_Missense_Mutation_p.R2832C|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2832 PI3K/PI4K. R -> C (in AT and B-cell non-Hodgkin lymphoma). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R2832C(4) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACCAGTTTTCCGTTACTTCTG 0.343000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 43 132 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68152514 68152514 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:68152514C>A ENST00000262215.3 - 20 3251 c.2862G>T c.(2860-2862)acG>acT p.T954T ARFGEF1_ENST00000520381.1_Silent_p.T408T NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 954 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CCAGAAAAGGCGTCCAAGCCA 0.328000 26 89 4.72057e-08 6.10898e-08 1 1 0 COPB1 1315 broad.mit.edu 37 11 14482762 14482762 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:14482762C>T ENST00000249923.3 - 19 2826 c.2526G>A c.(2524-2526)caG>caA p.Q842Q COPB1_ENST00000439561.2_Silent_p.Q842Q NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 842 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 CGGCCCACATCTGACGGAATT 0.433000 24 116 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324758 7324758 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:7324758G>A ENST00000323675.3 + 3 789 c.764G>A c.(763-765)cGc>cAc p.R255H RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 255 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) TCCCGGCACCGCTCCTCAGGC 0.677000 17 26 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120575254 120575254 + Splice_Site SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:120575254C>A ENST00000427067.2 - 25 2508 c.e25-1 ENPP2_ENST00000522826.1_Splice_Site|ENPP2_ENST00000075322.6_Splice_Site|ENPP2_ENST00000522167.1_Splice_Site|ENPP2_ENST00000259486.6_Splice_Site Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTCCACGTACCTGAAACAGGA 0.428000 10 44 1.58986e-06 1.94317e-06 1 1 0 CNTN5 53942 broad.mit.edu 37 11 100095520 100095520 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:100095520G>A ENST00000524871.1 + 16 2271 c.1981G>A c.(1981-1983)Gat>Aat p.D661N CNTN5_ENST00000527185.1_Missense_Mutation_p.D661N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D661N|CNTN5_ENST00000418526.2_Missense_Mutation_p.D587N|CNTN5_ENST00000279463.3_Missense_Mutation_p.D661N|CNTN5_ENST00000524560.1_Intron NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 661 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CAGTGTGTCAGATGAGGCAGA 0.433000 11 63 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14782594 14782594 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr18:14782594G>T ENST00000358984.4 + 12 1731 c.1551G>T c.(1549-1551)gaG>gaT p.E517D ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E517D|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 517 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAGTAATGGAGATAAATAGAG 0.313000 6 20 0.248553 0.251409 1 1 0 RPTOR 57521 broad.mit.edu 37 17 78921115 78921115 + Missense_Mutation SNP A A G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:78921115A>G ENST00000306801.3 + 27 3591 c.3229A>G c.(3229-3231)Aac>Gac p.N1077D RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.N919D NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 1077 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GGAGTATCTGAACGGCCAGGA 0.582000 9 40 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76905940 76905940 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:76905940G>A ENST00000380887.2 + 2 316 c.244G>A c.(244-246)Ggc>Agc p.G82S ESRRB_ENST00000261532.7_Missense_Mutation_p.G82S|ESRRB_ENST00000509242.1_Missense_Mutation_p.G82S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.G82S A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 82 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CTGTGCCAGCGGCATCATGGA 0.647000 18 32 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541405 55541405 + Missense_Mutation SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:55541405T>A ENST00000361760.1 + 1 492 c.492T>A c.(490-492)ttT>ttA p.F164L NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TCACATATTTTCTTCTTGACT 0.423000 44 174 0 0 1 0 0 IGFBP2 3485 broad.mit.edu 37 2 217528817 217528817 + Missense_Mutation SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:217528817G>C ENST00000233809.4 + 4 1097 c.968G>C c.(967-969)cGg>cCg p.R323P IGFBP2_ENST00000456764.1_Missense_Mutation_p.R179P NM_000597.2 NP_000588.2 P18065 IBP2_HUMAN insulin-like growth factor binding protein 2, 36kDa 323 positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway extracellular space insulin-like growth factor I binding|insulin-like growth factor II binding endometrium(2)|large_intestine(1)|lung(2) 5 Renal(323;0.0458) Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968) CACACCCAGCGGATGCAGTAG 0.677000 7 12 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121699858 121699858 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:121699858C>T ENST00000393386.2 + 29 7134 c.6723C>T c.(6721-6723)caC>caT p.H2241H PTPRZ1_ENST00000449182.1_Silent_p.H1374H NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 2241 Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CCCTTATGCACCAACTAGAAA 0.428000 52 95 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147131171 147131171 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:147131171C>A ENST00000282928.4 + 3 1906 c.1177C>A c.(1177-1179)Cct>Act p.P393T NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 393 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GGGCTCGCAGCCTTCGCCGGC 0.617000 12 81 1.08611e-07 1.37852e-07 1 1 0 CUBN 8029 broad.mit.edu 37 10 16877175 16877175 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:16877175G>T ENST00000377833.4 - 64 10265 c.10200C>A c.(10198-10200)caC>caA p.H3400Q NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3400 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAAATGCCTTGTGATAGTCTC 0.423000 18 77 1.67942e-08 2.19488e-08 1 1 0 SMARCA2 6595 broad.mit.edu 37 9 2084151 2084151 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:2084151G>T ENST00000382203.1 + 17 2690 c.2481G>T c.(2479-2481)ttG>ttT p.L827F SMARCA2_ENST00000382194.1_Missense_Mutation_p.L827F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L827F|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L827F P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 827 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATGTCCTCTTGACTACTTATG 0.388000 16 30 5.35267e-07 6.69718e-07 1 1 0 NALCN 259232 broad.mit.edu 37 13 101717842 101717842 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr13:101717842G>T ENST00000251127.6 - 40 4599 c.4518C>A c.(4516-4518)gaC>gaA p.D1506E NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1506 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTTGTCCTTGTCCAGGTCCA 0.582000 19 102 1.33834e-09 1.78445e-09 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:39274206C>T ENST00000391413.2 - 1 400 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(5) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.652000 4 29 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18827197 18827197 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:18827197C>A ENST00000396576.2 + 12 1727 c.1226C>A c.(1225-1227)aCc>aAc p.T409N CACNB2_ENST00000377329.4_Missense_Mutation_p.T410N|CACNB2_ENST00000377315.4_Missense_Mutation_p.T416N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.T436N|CACNB2_ENST00000377319.3_Missense_Mutation_p.T371N|CACNB2_ENST00000352115.6_Missense_Mutation_p.T440N|CACNB2_ENST00000377331.2_Missense_Mutation_p.T412N|CACNB2_ENST00000377328.1_Missense_Mutation_p.T214N|CACNB2_ENST00000324631.7_Missense_Mutation_p.T464N NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 464 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGAAGGCCACCCATCCTCCC 0.557000 81 140 5.04879e-28 8.12732e-28 1 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160259586 160259586 + Silent SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:160259586A>T ENST00000264431.4 + 12 2195 c.1776A>T c.(1774-1776)tcA>tcT p.S592S NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 592 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TATTGCAGTCACATCATCGCA 0.378000 21 75 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765957 77765957 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:77765957C>A ENST00000521891.2 + 10 7248 c.6800C>A c.(6799-6801)aCc>aAc p.T2267N ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2241N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2222N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2222N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATCTGCCTACCCGGGTTATT 0.398000 HNSCC(33;0.089) 6 36 0.0293803 0.0306577 1 1 0 KLF15 28999 broad.mit.edu 37 3 126062589 126062589 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:126062589G>A ENST00000296233.3 - 3 1462 c.1232C>T c.(1231-1233)tCc>tTc p.S411F NM_014079.3 NP_054798.1 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 411 nucleus DNA binding|zinc ion binding endometrium(1)|lung(7)|ovary(2)|skin(2) 12 GBM - Glioblastoma multiforme(114;0.147) GGAGCGCACGGAGCGGCTGCT 0.592000 12 29 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215345388 215345388 + Missense_Mutation SNP T T C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:215345388T>C ENST00000444842.2 + 5 835 c.685T>C c.(685-687)Ttt>Ctt p.F229L KCNK2_ENST00000391894.2_Missense_Mutation_p.F214L|KCNK2_ENST00000391895.2_Missense_Mutation_p.F225L NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 229 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) AACAATCATATTTATACTATT 0.388000 43 136 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41457594 41457594 + Missense_Mutation SNP T T C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr21:41457594T>C ENST00000400454.1 - 23 4544 c.4067A>G c.(4066-4068)tAt>tGt p.Y1356C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1356 Ig-like C2-type 10. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCAGCTGTAATAGCCGGAGTC 0.413000 13 90 0 0 1 0 0 GPR15 2838 broad.mit.edu 37 3 98250950 98250950 + Missense_Mutation SNP A A G rs145928800 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:98250950A>G ENST00000284311.3 + 1 208 c.73A>G c.(73-75)Acc>Gcc p.T25A NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 25 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CATCAGGGAGACCCACTCCCA 0.478000 15 39 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156536336 156536336 + Nonsense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:156536336C>T ENST00000361170.2 - 3 138 c.128G>A c.(127-129)tGg>tAg p.W43* NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 43 CH. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCCTCCATCCAGCTATGAAC 0.547000 15 39 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077592 9077592 + Missense_Mutation SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:9077592A>T ENST00000397910.4 - 3 10057 c.9854T>A c.(9853-9855)cTc>cAc p.L3285H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3286 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 GGATGGGGAGAGGGAGACCCT 0.542000 35 86 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306716 2306716 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:2306716C>A ENST00000290974.2 - 8 1690 c.1351G>T c.(1351-1353)Gcc>Tcc p.A451S ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A421S|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A381S NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 451 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TTTTCCGAGGCGGGCAAGCTG 0.682000 10 89 3.86212e-05 4.4524e-05 1 1 0 NYX 60506 broad.mit.edu 37 X 41333694 41333694 + Missense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:41333694C>G ENST00000342595.2 + 2 1444 c.988C>G c.(988-990)Cgc>Ggc p.R330G NYX_ENST00000378220.1_Missense_Mutation_p.R330G NM_022567.2 NP_072089.1 Q9GZU5 NYX_HUMAN nyctalopin 330 response to stimulus|visual perception intracellular|proteinaceous extracellular matrix NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1) 17 CTTCCTGGGCCGCCTCTTCCT 0.687000 17 24 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192069 125192069 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:125192069G>T ENST00000431078.1 + 5 902 c.538G>T c.(538-540)Gtt>Ttt p.V180F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 180 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGAATCAGATGTTGCTGACTT 0.418000 20 68 1.40151e-16 2.12643e-16 1 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54676209 54676209 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:54676209G>A ENST00000474759.1 + 11 1156 c.1108G>A c.(1108-1110)Gat>Aat p.D370N CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D370N|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D370N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D276N NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 370 VWFA. 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) GCTCATAACTGATGGGGCGGT 0.438000 4 21 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33139582 33139582 + Nonsense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:33139582G>A ENST00000341947.2 - 42 3285 c.3058C>T c.(3058-3060)Cga>Tga p.R1020* COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R994*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R999*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.R934*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R913*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R960*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R973*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R939* NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1020 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GCTGCACCTCGTTCCCCAGGG 0.632000 15 17 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20874864 20874864 + RNA SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr15:20874864G>T ENST00000556948.1 - 0 384 ATTTTAAGGTGTGCATTATCT 0.343000 7 38 2.61681e-11 3.67468e-11 1 1 0 ALG9 79796 broad.mit.edu 37 11 111709090 111709090 + Missense_Mutation SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:111709090G>C ENST00000398006.2 - 11 1580 c.672C>G c.(670-672)caC>caG p.H224Q ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.H231Q NM_001077690.1|NM_001077691.1|NM_001077692.1 NP_001071158.1|NP_001071159.1|NP_001071160.1 Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 395 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GAAACACAAAGTGGTAACATT 0.378000 11 43 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626572 80626572 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:80626572G>T ENST00000369816.4 - 6 998 c.698C>A c.(697-699)aCg>aAg p.T233K NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 233 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) AGACAGTGCCGTGTGCCCAAT 0.398000 13 63 2.27111e-07 2.86877e-07 1 1 0 TPK1 27010 broad.mit.edu 37 7 144463003 144463003 + Missense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:144463003C>G ENST00000360057.3 - 3 187 c.85G>C c.(85-87)Gac>Cac p.D29H TPK1_ENST00000378099.3_Missense_Mutation_p.D29H NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 29 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) AAATAGTTGTCCAAAGGCTGA 0.318000 28 78 0 0 1 0 0 FAM192A 80011 broad.mit.edu 37 16 57206783 57206783 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr16:57206783C>T ENST00000309137.8 - 3 389 c.131G>A c.(130-132)tGt>tAt p.C44Y FAM192A_ENST00000564108.1_Missense_Mutation_p.C44Y|FAM192A_ENST00000567439.1_Missense_Mutation_p.C44Y|FAM192A_ENST00000569266.1_Missense_Mutation_p.C44Y|FAM192A_ENST00000389447.5_Missense_Mutation_p.C44Y|FAM192A_ENST00000566077.1_5'UTR NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 44 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 CTCCTCTGGACATTCTGAAAG 0.423000 17 65 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139876809 139876809 + Missense_Mutation SNP A A G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:139876809A>G ENST00000297183.6 + 15 3074 c.2950A>G c.(2950-2952)Atg>Gtg p.M984V ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Missense_Mutation_p.M984V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M984V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATGGACTAATGGTTGCAAC 0.418000 80 142 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153171221 153171221 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:153171221C>A ENST00000358927.2 + 3 470 c.261C>A c.(259-261)gcC>gcA p.A87A AVPR2_ENST00000337474.5_Silent_p.A87A|AVPR2_ENST00000370049.1_Silent_p.A87A P30518 V2R_HUMAN arginine vasopressin receptor 2 87 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity p.A87A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CCGACCTGGCCGTGGCTCTGT 0.682000 14 44 1.52009e-12 2.16921e-12 1 1 0 KIAA0947 23379 broad.mit.edu 37 5 5476138 5476138 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:5476138G>T ENST00000296564.7 + 17 6688 c.6466G>T c.(6466-6468)Gca>Tca p.A2156S NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 2156 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAAAGGACATGCAAACATTGC 0.318000 3 35 0.014758 0.0155223 1 1 0 FRMD4A 55691 broad.mit.edu 37 10 13735916 13735916 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:13735916C>T ENST00000357447.2 - 15 1467 c.1099G>A c.(1099-1101)Ggc>Agc p.G367S FRMD4A_ENST00000342409.2_Missense_Mutation_p.G383S|FRMD4A_ENST00000378503.1_Missense_Mutation_p.G367S|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Missense_Mutation_p.G352S NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 367 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGCAGGCTGCCGCTGCTGCCG 0.647000 5 33 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735811 55735811 + Missense_Mutation SNP G G T rs147274300 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:55735811G>T ENST00000312345.2 - 1 179 c.129C>A c.(127-129)caC>caA p.H43Q NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GGAGAGCGGGGTGAATTTTTA 0.333000 13 82 1.36491e-13 1.97987e-13 1 1 0 TTC29 83894 broad.mit.edu 37 4 147796023 147796023 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:147796023C>A ENST00000513335.1 - 8 921 c.722G>T c.(721-723)cGg>cTg p.R241L TTC29_ENST00000325106.4_Missense_Mutation_p.R215L|TTC29_ENST00000398886.4_Missense_Mutation_p.R241L Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 215 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CTTCCATATCCGCCCCTGTGT 0.448000 7 30 2.0095e-06 2.43352e-06 1 1 0 TMEM241 85019 broad.mit.edu 37 18 20945620 20945620 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr18:20945620C>A ENST00000383233.3 - 11 631 c.579G>T c.(577-579)ctG>ctT p.L193L TMEM241_ENST00000450466.2_Silent_p.L72L|TMEM241_ENST00000542162.1_3'UTR NM_032933.4 NP_116322.3 Q24JQ0 CR045_HUMAN transmembrane protein 241 193 integral to membrane ATGCAAATGCCAGGAGCACCA 0.468000 8 28 0.00448238 0.00484979 1 1 0 ZNF317 57693 broad.mit.edu 37 19 9271173 9271173 + Silent SNP A A G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:9271173A>G ENST00000247956.6 + 7 1157 c.852A>G c.(850-852)ggA>ggG p.G284G ZNF317_ENST00000360385.3_Silent_p.G252G NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GTCAGTGTGGAAATGCATTCC 0.562000 7 80 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 16021851 16021851 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr20:16021851G>T ENST00000217246.4 + 16 1554 c.1159G>T c.(1159-1161)Ggc>Tgc p.G387C MACROD2_ENST00000402914.1_Missense_Mutation_p.G152C|MACROD2_ENST00000310348.4_Missense_Mutation_p.G387C|MACROD2_ENST00000407045.3_Missense_Mutation_p.G38C|MACROD2_ENST00000378058.3_Missense_Mutation_p.G152C NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 387 Glu-rich. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TCCAGCTCCAGGCGAGGACAC 0.478000 13 33 0.00010058 0.000114948 1 1 0 POU2AF1 5450 broad.mit.edu 37 11 111229611 111229611 + Silent SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:111229611G>T ENST00000393067.3 - 2 563 c.49C>A c.(49-51)Cgg>Agg p.R17R NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 17 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) TGGTATGGCCGGGCCGGGGCT 0.647000 T BCL6 NHL 7 20 5.18039e-06 6.13284e-06 1 1 0 KIF21A 55605 broad.mit.edu 37 12 39713809 39713809 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:39713809C>A ENST00000395670.3 - 27 4097 c.3678G>T c.(3676-3678)agG>agT p.R1226S KIF21A_ENST00000361418.5_Missense_Mutation_p.R1226S|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1213S|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1206S|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1190S|KIF21A_ENST00000547745.1_5'UTR Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1226 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GAGATGACTGCCTGGAACTAA 0.323000 5 20 0.00116845 0.00127467 1 1 0 SPATA4 132851 broad.mit.edu 37 4 177114137 177114137 + Missense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:177114137C>G ENST00000280191.2 - 3 547 c.439G>C c.(439-441)Gag>Cag p.E147Q SPATA4_ENST00000515234.1_5'UTR NM_144644.2 NP_653245.2 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 147 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) GTGTAAACCTCTTCTATCAAT 0.284000 4 52 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22257741 22257741 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:22257741C>T ENST00000324559.8 + 8 998 c.681C>T c.(679-681)ggC>ggT p.G227G NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 227 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTCCTTTTGGCATAGAAGATG 0.378000 10 62 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784858 82784858 + Missense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:82784858C>G ENST00000423517.2 - 2 1436 c.1099G>C c.(1099-1101)Ggt>Cgt p.G367R PCLO_ENST00000333891.8_Missense_Mutation_p.G367R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 327 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTAGCAGGACCAAGAGGCTGA 0.577000 16 39 0 0 1 0 0 SORBS3 10174 broad.mit.edu 37 8 22412384 22412384 + Silent SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:22412384G>C ENST00000240123.7 + 3 494 c.111G>C c.(109-111)gtG>gtC p.V37V SORBS3_ENST00000523402.1_Silent_p.V37V NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 37 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AGGTGCCCGTGATCCGGAATG 0.657000 23 53 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812686 141812686 + Splice_Site SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:141812686T>A ENST00000389484.3 - 10 2522 c.1552_splice c.e10+1 p.K517_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 517 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAACATACTTTTGCATGACC 0.418000 TSP Lung(27;0.18) 26 41 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114329890 114329890 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:114329890C>A ENST00000408937.3 + 18 2506 c.2132C>A c.(2131-2133)cCa>cAa p.P711Q FOXP2_ENST00000350908.4_Missense_Mutation_p.P686Q|FOXP2_ENST00000393494.2_Missense_Mutation_p.P686Q|FOXP2_ENST00000403559.4_Missense_Mutation_p.P703Q|FOXP2_ENST00000393498.2_Missense_Mutation_p.P665Q|FOXP2_ENST00000393489.3_Missense_Mutation_p.P594Q|FOXP2_ENST00000393491.3_Missense_Mutation_p.P501Q NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 686 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GAAGACTGCCCAATGTCCTTA 0.398000 44 82 2.24893e-16 3.39268e-16 1 1 0 PPEF1 5475 broad.mit.edu 37 X 18845481 18845481 + Missense_Mutation SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:18845481A>T ENST00000361511.4 + 19 2332 c.1838A>T c.(1837-1839)aAg>aTg p.K613M PPEF1_ENST00000349874.5_Missense_Mutation_p.K551M|PPEF1_ENST00000544635.1_Missense_Mutation_p.K548M|PPEF1_ENST00000359763.6_Missense_Mutation_p.K560M|PPEF1_ENST00000543630.1_3'UTR NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 613 EF-hand 3. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) CAAGTCAATAAGCTTGCCAAC 0.353000 25 121 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136913358 136913358 + Nonsense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:136913358C>A ENST00000359015.4 - 23 3538 c.3178G>T c.(3178-3180)Gaa>Taa p.E1060* MAP3K5_ENST00000355845.4_Nonsense_Mutation_p.E307* NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1060 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCTTGGTCTTCCGTCAGGATC 0.448000 31 167 2.80507e-11 3.9182e-11 1 1 0 DHX57 90957 broad.mit.edu 37 2 39082376 39082376 + Silent SNP T T C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:39082376T>C ENST00000295373.6 - 8 1854 c.1728A>G c.(1726-1728)caA>caG p.Q576Q NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 576 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) ACTGCGGAATTTGTGTGGTTT 0.393000 95 95 0 0 1 0 0 GTF2B 2959 broad.mit.edu 37 1 89319009 89319009 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:89319009C>A ENST00000370500.5 - 7 956 c.838G>T c.(838-840)Gtt>Ttt p.V280F NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 280 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) ACATCAGCAACACCAGCAATA 0.398000 9 131 0.000274275 0.000310767 1 1 0 AKAP1 8165 broad.mit.edu 37 17 55184187 55184187 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:55184187C>A ENST00000337714.3 + 2 1595 c.1362C>A c.(1360-1362)atC>atA p.I454I AKAP1_ENST00000314126.3_Silent_p.I454I|AKAP1_ENST00000572557.1_Silent_p.I454I|AKAP1_ENST00000539273.1_Silent_p.I454I|AKAP1_ENST00000571629.1_Silent_p.I454I NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 454 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AGCCAAATATCTCTGCACACC 0.607000 24 104 4.26978e-12 6.06033e-12 1 1 0 KRT6A 3853 broad.mit.edu 37 12 52882330 52882330 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:52882330G>A ENST00000330722.6 - 7 1274 c.1206C>T c.(1204-1206)tgC>tgT p.C402C NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 402 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCAGGTTGGCGCACTGGAAGA 0.562000 7 67 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458124 248458124 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:248458124C>A ENST00000317996.1 - 1 756 c.757G>T c.(757-759)Ggc>Tgc p.G253C NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GTAAAAATGCCAGCTCCATAA 0.498000 20 164 2.59497e-14 3.80596e-14 1 1 0 OR4L1 122742 broad.mit.edu 37 14 20528431 20528431 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:20528431C>A ENST00000315683.1 + 1 228 c.228C>A c.(226-228)gcC>gcA p.A76A NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A76A(1) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TCTCCACTGCCACAACACCCA 0.468000 49 124 2.43468e-25 3.87202e-25 1 1 0 RP11-478B9.1 0 broad.mit.edu 37 12 45459082 45459082 + RNA SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:45459082C>A ENST00000548424.1 + 0 448 AATCTCCGCCCCGCGCACAAG 0.478000 11 34 1.58986e-06 1.94317e-06 1 1 0 GOLGA2 2801 broad.mit.edu 37 9 131024843 131024843 + Splice_Site SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:131024843T>A ENST00000421699.2 - 13 1064 c.1053_splice c.e13+1 p.Q351_splice NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 351 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GCCTCTTGCCTGTTGAAGCAG 0.562000 9 31 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147743534 147743534 + Missense_Mutation SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:147743534G>C ENST00000370460.2 + 3 765 c.286G>C c.(286-288)Gga>Cga p.G96R AFF2_ENST00000370457.5_Missense_Mutation_p.G92R|AFF2_ENST00000370458.1_Missense_Mutation_p.G92R|AFF2_ENST00000342251.3_Missense_Mutation_p.G92R NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 96 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TCACCTAGTGGGAATTCCAAA 0.398000 47 246 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17130212 17130212 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:17130212C>A ENST00000377833.4 - 15 1963 c.1898G>T c.(1897-1899)gGg>gTg p.G633V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 633 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTCAAGGTCCCAAAAGTAAA 0.408000 11 69 6.40141e-05 7.34771e-05 1 1 0 GBE1 2632 broad.mit.edu 37 3 81695601 81695601 + Nonsense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:81695601C>A ENST00000429644.2 - 6 1367 c.724G>T c.(724-726)Gag>Tag p.E242* GBE1_ENST00000489715.1_Nonsense_Mutation_p.E201* NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 242 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) TAAGCATGCTCCATGATTGCC 0.353000 Glycogen Storage Disease, type IV 13 70 4.36969e-10 5.97719e-10 1 1 0 LPXN 9404 broad.mit.edu 37 11 58317454 58317454 + Missense_Mutation SNP T T C rs140764119 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:58317454T>C ENST00000528954.1 - 6 786 c.667A>G c.(667-669)Atc>Gtc p.I223V LPXN_ENST00000528489.1_Missense_Mutation_p.I198V|LPXN_ENST00000395074.2_Missense_Mutation_p.I218V NM_001143995.1 NP_001137467.1 O60711 LPXN_HUMAN leupaxin 218 LIM zinc-binding 2. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ACATCCAGGATGGGAGCAGCG 0.493000 5 110 0 0 1 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102036967 102036967 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:102036967C>A ENST00000496391.1 + 5 1419 c.109C>A c.(109-111)Cgg>Agg p.R37R PRKRIP1_ENST00000482465.1_Intron|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000397912.3_Silent_p.R37R|PRKRIP1_ENST00000354783.4_5'UTR Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 37 Interaction with EIF2AK2 (By similarity). nucleolus endometrium(1)|lung(4)|ovary(1) 6 CAAGCTGGAGCGGCTCATGAA 0.677000 14 40 1.49906e-05 1.7589e-05 1 1 0 TMEM59L 25789 broad.mit.edu 37 19 18724997 18724997 + Nonsense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:18724997G>T ENST00000600490.1 + 4 585 c.400G>T c.(400-402)Gag>Tag p.E134* TMEM59L_ENST00000262817.3_Nonsense_Mutation_p.E134* Q9UK28 TM59L_HUMAN transmembrane protein 59-like 134 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GCCTGAGCCGGAGCAGAAGGT 0.652000 5 6 5.9392e-07 7.36126e-07 1 1 0 TUBGCP4 27229 broad.mit.edu 37 15 43663575 43663575 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr15:43663575C>A ENST00000564079.1 + 1 263 c.23C>A c.(22-24)gCt>gAt p.A8D TUBGCP4_ENST00000260383.7_Missense_Mutation_p.A8D|TUBGCP4_ENST00000570081.1_Intron NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 8 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton p.A8D(2) breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) CTGCTCTTGGCTCTGAGCGGG 0.652000 OREG0023087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 24 0.115264 0.118866 1 1 0 ASIC2 40 broad.mit.edu 37 17 32483155 32483155 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:32483155C>T ENST00000359872.6 - 1 1158 c.397G>A c.(397-399)Gtg>Atg p.V133M NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 133 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCCTCCAGCACGGAGGGGTCA 0.612000 42 72 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21826287 21826287 + RNA SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:21826287G>C ENST00000426869.3 + 0 470 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) GCCCTGTCATGGTGGCCTCTC 0.562000 5 47 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026732 37026732 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:37026732C>T ENST00000358047.3 + 1 301 c.249C>T c.(247-249)ctC>ctT p.L83L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 83 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AAATATCTCTCAGAGGTCCCC 0.542000 50 64 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22770675 22770675 + Silent SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:22770675G>C ENST00000454584.2 + 6 788 c.483G>C c.(481-483)gtG>gtC p.V161V GAS2_ENST00000433790.1_Silent_p.V161V|GAS2_ENST00000278187.3_Silent_p.V161V NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 161 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 GGTATGGTGTGGAGCCTCCTG 0.383000 16 53 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785415 22785415 + RNA SNP T T G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:22785415T>G ENST00000600260.1 + 0 1504 NR_033899.1 AGCTGCTTTATGCAGCTGATG 0.567000 11 86 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35756932 35756932 + Splice_Site SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:35756932C>T ENST00000187397.4 + 12 1355 c.897_splice c.e12-1 p.S300_splice ARPP21_ENST00000417925.1_Splice_Site_p.S266_splice|ARPP21_ENST00000337271.5_Splice_Site_p.S266_splice|ARPP21_ENST00000458225.1_Splice_Site_p.S266_splice|ARPP21_ENST00000444190.1_Splice_Site_p.S266_splice NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 300 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATTTTTCAGTCAGTTTGCTCC 0.378000 14 63 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190068156 190068156 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:190068156G>A ENST00000367462.3 - 8 1524 c.1293C>T c.(1291-1293)gaC>gaT p.D431D FAM5C_ENST00000534846.1_Silent_p.D329D|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 431 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGACCACCTGGTCATTCGGAC 0.597000 10 95 0 0 1 0 0 ELL3 80237 broad.mit.edu 37 15 44068350 44068350 + Splice_Site SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr15:44068350C>T ENST00000319359.3 - 3 810 c.e3-1 RP11-296A16.1_ENST00000417761.2_Splice_Site NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GTCTCAGATACTGGGGGTGGA 0.617000 16 15 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915203 176915203 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:176915203G>T ENST00000367654.2 - 13 2145 c.2132C>A c.(2131-2133)aCg>aAg p.T711K ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T703K|ASTN1_ENST00000361833.2_Missense_Mutation_p.T703K|ASTN1_ENST00000367657.3_Missense_Mutation_p.T703K O14525 ASTN1_HUMAN astrotactin 1 711 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ACAGGTCTCCGTGATGAGTTG 0.502000 45 112 2.45108e-15 3.63531e-15 1 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862800 10862800 + RNA SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr21:10862800G>T ENST00000559480.1 + 0 96 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 AGGTGAAGAAGCCTGGGGCCT 0.567000 24 130 1.64293e-13 2.37013e-13 1 1 0 SMARCA2 6595 broad.mit.edu 37 9 2170433 2170433 + Missense_Mutation SNP A A G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:2170433A>G ENST00000382203.1 + 29 4423 c.4214A>G c.(4213-4215)aAg>aGg p.K1405R SMARCA2_ENST00000382194.1_Intron|SMARCA2_ENST00000349721.2_Missense_Mutation_p.K1405R|SMARCA2_ENST00000302401.3_Intron|SMARCA2_ENST00000382186.1_Missense_Mutation_p.K69R|SMARCA2_ENST00000324954.5_Intron|SMARCA2_ENST00000357248.2_Intron|SMARCA2_ENST00000382185.1_Intron P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1405 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AACGTGGAGAAGGTGCCCAGT 0.498000 43 54 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41555615 41555615 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:41555615C>A ENST00000396942.1 - 24 2666 c.2583G>T c.(2581-2583)agG>agT p.R861S ANK1_ENST00000289734.7_Missense_Mutation_p.R861S|ANK1_ENST00000352337.4_Missense_Mutation_p.R861S|ANK1_ENST00000379758.2_Missense_Mutation_p.R861S|ANK1_ENST00000347528.4_Missense_Mutation_p.R861S|ANK1_ENST00000265709.8_Missense_Mutation_p.R902S|ANK1_ENST00000396945.1_Missense_Mutation_p.R861S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 861 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CACAGGGAATCCTGGGGATGG 0.557000 4 48 0.150653 0.154157 1 1 0 ZNF8 7554 broad.mit.edu 37 19 58806340 58806340 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:58806340G>T ENST00000196548.5 + 4 1297 c.1166G>T c.(1165-1167)aGa>aTa p.R389I AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CTGCACCTGAGAACTCACACC 0.612000 22 80 3.8784e-16 5.81761e-16 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274235 39274235 + Silent SNP G G A rs11654403 by1000genomes TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:39274235G>A ENST00000391413.2 - 1 371 c.333C>T c.(331-333)cgC>cgT p.R111R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 111 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R111R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) agcagctggggcgacagcagc 0.652000 4 25 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66230805 66230805 + Silent SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:66230805T>A ENST00000273854.3 - 12 2766 c.2166A>T c.(2164-2166)ctA>ctT p.L722L EPHA5_ENST00000511294.1_Silent_p.L723L|EPHA5_ENST00000354839.4_Silent_p.L700L|EPHA5_ENST00000432638.2_Silent_p.L559L NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 722 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTGCTTCACCTAGGAAATCTC 0.388000 TSP Lung(17;0.13) 35 153 0 0 1 0 0 TMCO2 127391 broad.mit.edu 37 1 40716957 40716957 + Missense_Mutation SNP A A C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:40716957A>C ENST00000372766.3 + 2 333 c.240A>C c.(238-240)aaA>aaC p.K80N TMCO2_ENST00000468258.1_3'UTR NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 80 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CATTTTAGAAAACATTGTTGT 0.343000 16 123 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304394 10304394 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:10304394C>T ENST00000403437.2 - 25 3317 c.3223G>A c.(3223-3225)Gac>Aac p.D1075N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1075 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 TGCTGTTTGTCATTTTCCATA 0.373000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 15 103 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102946533 102946533 + Missense_Mutation SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:102946533G>C ENST00000504592.1 + 13 1834 c.1416G>C c.(1414-1416)ttG>ttC p.L472F BANK1_ENST00000444316.2_Missense_Mutation_p.L457F|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Missense_Mutation_p.L354F|BANK1_ENST00000428908.1_Missense_Mutation_p.L354F|BANK1_ENST00000322953.4_Missense_Mutation_p.L487F|RP11-498M5.2_ENST00000505091.1_RNA Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 487 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) ATGATGACTTGTATGTGTTCA 0.498000 17 62 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66094382 66094382 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:66094382C>A ENST00000503581.1 - 8 1733 c.1196G>T c.(1195-1197)gGa>gTa p.G399V EYS_ENST00000370618.3_Missense_Mutation_p.G399V|EYS_ENST00000370621.3_Missense_Mutation_p.G399V|EYS_ENST00000342421.5_Missense_Mutation_p.G399V|EYS_ENST00000370616.2_Missense_Mutation_p.G399V|EYS_ENST00000393380.2_Missense_Mutation_p.G399V NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 399 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTCAGTAAATCCTGATATACA 0.299000 6 30 3.59834e-05 4.18485e-05 1 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357602 118357602 + Silent SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:118357602C>G ENST00000528052.1 + 8 809 c.738C>G c.(736-738)ccC>ccG p.P246P PNLIPRP1_ENST00000358834.4_Silent_p.P246P|PNLIPRP1_ENST00000534537.1_Silent_p.P246P P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 246 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) ACTTCTTCCCCAATGGAGGAG 0.478000 33 48 0 0 1 0 0 HBE1 3046 broad.mit.edu 37 11 5290843 5290843 + Silent SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:5290843G>T ENST00000380237.1 - 4 500 c.156C>A c.(154-156)ccC>ccA p.P52P HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.P52P P02100 HBE_HUMAN hemoglobin, epsilon 1 52 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGATGGCAGAGGGAGACGACA 0.478000 37 64 2.75727e-19 4.25684e-19 1 1 0 PTCRA 171558 broad.mit.edu 37 6 42890859 42890859 + Missense_Mutation SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:42890859T>A ENST00000304672.1 + 2 234 c.153T>A c.(151-153)gaT>gaA p.D51E PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 51 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) TGGTCCTTGATGTTGCACCCC 0.602000 9 147 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580425 82580425 + Missense_Mutation SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:82580425T>A ENST00000423517.2 - 6 9816 c.9479A>T c.(9478-9480)gAt>gTt p.D3160V PCLO_ENST00000333891.8_Missense_Mutation_p.D3160V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3091 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCACTGATATCAATACCAGT 0.428000 3 38 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581620 82581620 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:82581620C>A ENST00000423517.2 - 5 8986 c.8649G>T c.(8647-8649)tgG>tgT p.W2883C PCLO_ENST00000333891.8_Missense_Mutation_p.W2883C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2814 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCTATCAGTCCATCCATTTG 0.453000 37 99 6.53348e-20 1.01461e-19 1 1 0 ZFAS1 441951 broad.mit.edu 37 20 47896877 47896877 + RNA SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr20:47896877G>A ENST00000450535.1 + 0 644 ZFAS1_ENST00000441722.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000371743.3_RNA TGATGACTTAGCTTTTTTCCC 0.428000 10 41 0 0 1 0 0 NBPF22P 285622 broad.mit.edu 37 5 85578442 85578442 + RNA SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:85578442C>G ENST00000590707.1 + 0 165 NR_003719.2 AAGTTTTTCTCAACCATAAGT 0.403000 9 14 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113102932 113102932 + Nonsense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:113102932G>A ENST00000316851.7 + 10 1251 c.1251G>A c.(1249-1251)tgG>tgA p.W417* NCAM1_ENST00000533760.1_Nonsense_Mutation_p.W299*|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.W426*|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 427 Ig-like C2-type 5. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TGTACACTTGGGAGGGGAACC 0.517000 8 25 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74991896 74991896 + Missense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:74991896C>T ENST00000261978.4 - 15 2847 c.2461G>A c.(2461-2463)Ggg>Agg p.G821R LTBP2_ENST00000556690.1_Missense_Mutation_p.G821R NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 821 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding p.G821R(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCTGCAATCCCCTGTTCAGGC 0.612000 10 69 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39713810 39713810 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:39713810C>A ENST00000395670.3 - 27 4096 c.3677G>T c.(3676-3678)aGg>aTg p.R1226M KIF21A_ENST00000361418.5_Missense_Mutation_p.R1226M|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1213M|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1206M|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1190M|KIF21A_ENST00000547745.1_5'UTR Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1226 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AGATGACTGCCTGGAACTAAA 0.323000 5 19 0.014758 0.0155223 1 1 0 PNKP 11284 broad.mit.edu 37 19 50370365 50370365 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:50370365G>A ENST00000322344.3 - 2 206 c.97C>T c.(97-99)Ctg>Ttg p.L33L PNKP_ENST00000596014.1_Silent_p.L33L|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.L33L|PNKP_ENST00000600910.1_Silent_p.L33L NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 33 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CCCCTGCCCAGGACCAGGGCT 0.706000 Other BER factors 21 62 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34079593 34079593 + Missense_Mutation SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:34079593G>C ENST00000254466.6 - 1 304 c.277C>G c.(277-279)Ccc>Gcc p.P93A GAS2L2_ENST00000587565.1_Missense_Mutation_p.P93A NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 93 CH. cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCGACCCGGGGCATGGGAATC 0.627000 13 92 0 0 1 0 0 MRAS 22808 broad.mit.edu 37 3 138121072 138121072 + Silent SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:138121072G>T ENST00000289104.4 + 6 1235 c.588G>T c.(586-588)cgG>cgT p.R196R MRAS_ENST00000423968.2_Silent_p.R196R|MRAS_ENST00000474559.1_Silent_p.R196R|MRAS_ENST00000464896.1_Silent_p.R120R NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 196 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 GGGGAGACCGGGCCACAGGCA 0.547000 4 50 1 1 1 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357601 118357601 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:118357601C>A ENST00000528052.1 + 8 808 c.737C>A c.(736-738)cCc>cAc p.P246H PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P246H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P246H P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 246 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GACTTCTTCCCCAATGGAGGA 0.478000 32 44 8.4185e-14 1.22789e-13 1 1 0 GLDC 2731 broad.mit.edu 37 9 6587215 6587215 + Missense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:6587215C>G ENST00000321612.6 - 15 1926 c.1776G>C c.(1774-1776)caG>caC p.Q592H NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 592 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGAAAAGCTGCTGATATCCTT 0.403000 29 82 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70959745 70959745 + Missense_Mutation SNP T T G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr15:70959745T>G ENST00000322954.6 - 16 3463 c.3278A>C c.(3277-3279)aAt>aCt p.N1093T UACA_ENST00000539319.1_Missense_Mutation_p.N984T|UACA_ENST00000379983.2_Missense_Mutation_p.N1080T|UACA_ENST00000560441.1_Missense_Mutation_p.N1078T NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1093 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 CTGTTTGGCATTTTCTTCTAC 0.368000 41 76 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003063 122003063 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:122003063G>T ENST00000498619.1 + 7 2730 c.2292G>T c.(2290-2292)caG>caT p.Q764H CASR_ENST00000296154.5_Missense_Mutation_p.Q754H|CASR_ENST00000490131.1_Missense_Mutation_p.Q754H NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 754 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACCGCAACCAGGAGCTGGAGG 0.582000 15 53 2.32078e-09 3.07883e-09 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20618587 20618587 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:20618587G>T ENST00000504154.1 + 35 4154 c.3902G>T c.(3901-3903)gGa>gTa p.G1301V SLIT2_ENST00000503823.1_Missense_Mutation_p.G1293V|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1314V|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1297V NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1301 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGGCAGAACGGAACCAGCTTC 0.582000 24 49 3.10358e-05 3.62542e-05 1 1 0 SERPINA5 5104 broad.mit.edu 37 14 95053976 95053976 + Nonsense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:95053976G>T ENST00000329597.7 + 3 487 c.277G>T c.(277-279)Gag>Tag p.E93* SERPINA5_ENST00000553780.1_Nonsense_Mutation_p.E93*|SERPINA5_ENST00000554866.1_Nonsense_Mutation_p.E93*|SERPINA5_ENST00000554276.1_Nonsense_Mutation_p.E93* NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 93 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GCAGATCCTGGAGGGCCTGGG 0.592000 4 30 0.000602214 0.000673664 1 1 0 DSC2 1824 broad.mit.edu 37 18 28659834 28659834 + Missense_Mutation SNP T T C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr18:28659834T>C ENST00000280904.6 - 11 2085 c.1642A>G c.(1642-1644)Aca>Gca p.T548A DSC2_ENST00000251081.6_Missense_Mutation_p.T548A NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 548 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCAAGGACTGTAATATTATAT 0.383000 28 195 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106647305 106647305 + Nonsense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:106647305C>A ENST00000526355.1 - 6 2164 c.1696G>T c.(1696-1698)Gaa>Taa p.E566* GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E587*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E566* NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 566 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCTATTGTTTCCACCTGCAGC 0.423000 16 55 2.23348e-06 2.65604e-06 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 79878692 79878692 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:79878692G>A ENST00000466387.1 + 6 734 c.10G>A c.(10-12)Gca>Aca p.A4T CTNNA2_ENST00000541047.1_Missense_Mutation_p.A4T|CTNNA2_ENST00000409266.1_Missense_Mutation_p.A4T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A38T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A4T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A4T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A4T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 4 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CATGACTTCGGCAACTTCACC 0.403000 48 33 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072276 134072276 + Nonsense_Mutation SNP C C G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr4:134072276C>G ENST00000264360.4 + 1 1807 c.981C>G c.(979-981)taC>taG p.Y327* NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 327 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACCAAGTGTACGTGCAAGCCA 0.617000 23 88 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8503718 8503718 + Nonsense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:8503718G>A ENST00000262648.3 - 12 1905 c.1756C>T c.(1756-1758)Caa>Taa p.Q586* KAL1_ENST00000481896.1_5'UTR NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 586 Fibronectin type-III 4. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 CAAGTCACTTGAAACCCAGTC 0.507000 19 40 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71971720 71971720 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:71971720C>A ENST00000266674.5 + 14 1535 c.1224C>A c.(1222-1224)aaC>aaA p.N408K LGR5_ENST00000540815.2_Missense_Mutation_p.N384K|LGR5_ENST00000536515.1_Missense_Mutation_p.N336K O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 408 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGGCTTGGAACAAAATTGCTA 0.313000 17 71 6.94344e-10 9.40035e-10 1 1 0 INPPL1 3636 broad.mit.edu 37 11 71949314 71949314 + Missense_Mutation SNP A A G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:71949314A>G ENST00000541756.1 + 28 3898 c.2968A>G c.(2968-2970)Acc>Gcc p.T990A INPPL1_ENST00000298229.2_Missense_Mutation_p.T1232A|INPPL1_ENST00000538751.1_Missense_Mutation_p.T990A O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1232 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CAGTGACATCACCGAGGAGGA 0.652000 OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 38 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56348107 56348107 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:56348107G>A ENST00000548747.1 - 11 2539 c.1877C>T c.(1876-1878)tCc>tTc p.S626F PMEL_ENST00000360714.4_Missense_Mutation_p.S633F|PMEL_ENST00000539511.1_Missense_Mutation_p.S540F|PMEL_ENST00000536427.1_Missense_Mutation_p.S591F|PMEL_ENST00000552882.1_Missense_Mutation_p.S626F|PMEL_ENST00000449260.2_Missense_Mutation_p.S633F|PMEL_ENST00000550447.1_Missense_Mutation_p.S255F|PMEL_ENST00000550464.1_Missense_Mutation_p.S540F|PMEL_ENST00000548493.1_Missense_Mutation_p.S626F P40967 PMEL_HUMAN premelanosome protein 626 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTGGGGTACGGAGAAGTCTTG 0.532000 20 58 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79634898 79634898 + Missense_Mutation SNP A A C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:79634898A>C ENST00000376708.1 + 1 328 c.328A>C c.(328-330)Aag>Cag p.K110Q NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 110 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CAAGCGCTTCAAGGTGCTGCG 0.687000 7 32 0 0 1 0 0 MS4A7 58475 broad.mit.edu 37 11 60156889 60156889 + Silent SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:60156889A>T ENST00000358246.1 + 4 424 c.231A>T c.(229-231)gcA>gcT p.A77A MS4A7_ENST00000534016.1_Silent_p.A77A|MS4A7_ENST00000300184.3_Silent_p.A122A|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 122 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 CCTCAAATGCAGTGAGTTCTG 0.493000 22 41 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82868632 82868632 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:82868632G>T ENST00000298281.4 + 1 603 c.151G>T c.(151-153)Gcc>Tcc p.A51S NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 51 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CCTGCCCTTCGCCAAGGAGAT 0.512000 20 138 8.10497e-08 1.0387e-07 1 1 0 RB1CC1 9821 broad.mit.edu 37 8 53540687 53540687 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:53540687C>A ENST00000025008.5 - 22 5064 c.4541G>T c.(4540-4542)cGc>cTc p.R1514L RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1514L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1514L|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1514 R -> C (in a breast cancer sample; somatic mutation). autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ATTGTCATGGCGTTCGTCTAG 0.383000 17 99 6.94344e-10 9.40035e-10 1 1 0 SLC35A4 113829 broad.mit.edu 37 5 139947518 139947518 + Missense_Mutation SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:139947518T>A ENST00000514199.1 + 2 2450 c.764T>A c.(763-765)cTc>cAc p.L255H APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L255H Q96G79 S35A4_HUMAN solute carrier family 35, member A4 255 Leu-rich. Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCAGCACTCGTGGTGCTG 0.572000 17 80 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003064 122003064 + Nonsense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:122003064G>T ENST00000498619.1 + 7 2731 c.2293G>T c.(2293-2295)Gag>Tag p.E765* CASR_ENST00000296154.5_Nonsense_Mutation_p.E755*|CASR_ENST00000490131.1_Nonsense_Mutation_p.E755* NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 755 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCGCAACCAGGAGCTGGAGGA 0.582000 15 53 1.5739e-10 2.16411e-10 1 1 0 OR10P1 121130 broad.mit.edu 37 12 56030937 56030937 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:56030937C>A ENST00000309675.2 + 1 294 c.262C>A c.(262-264)Ccg>Acg p.P88T NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 88 P -> L (in dbSNP:rs10876838). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 TCTGGGCTCCCCGCATCCCCA 0.607000 23 69 2.98393e-07 3.75123e-07 1 1 0 TRPC7 57113 broad.mit.edu 37 5 135583317 135583317 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:135583317G>A ENST00000513104.1 - 7 1968 c.1686C>T c.(1684-1686)aaC>aaT p.N562N TRPC7_ENST00000355180.3_Silent_p.N501N|TRPC7_ENST00000426057.2_Silent_p.N446N NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 562 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAAAACTCTCGTTGGCTGGCA 0.493000 23 120 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20778751 20778751 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:20778751G>T ENST00000404938.2 + 24 3665 c.3013G>T c.(3013-3015)Ggg>Tgg p.G1005W ABCB5_ENST00000258738.6_Missense_Mutation_p.G560W NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 560 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 CAGTCAAGAAGGGAAAAAGCC 0.478000 5 21 0.014758 0.0155223 1 1 0 TROAP 10024 broad.mit.edu 37 12 49723991 49723991 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:49723991G>A ENST00000551245.1 + 13 1474 c.1363G>A c.(1363-1365)Gtc>Atc p.V455I TROAP_ENST00000547923.1_Missense_Mutation_p.V163I|TROAP_ENST00000257909.3_Missense_Mutation_p.V455I Q12815 TROAP_HUMAN trophinin associated protein 455 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 GGGCCAGTGTGTCCCTCTTAA 0.532000 28 164 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56047370 56047370 + Missense_Mutation SNP A A C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr6:56047370A>C ENST00000244728.5 - 2 444 c.47T>G c.(46-48)cTt>cGt p.L16R COL21A1_ENST00000370819.1_Missense_Mutation_p.L16R|COL21A1_ENST00000535941.1_Missense_Mutation_p.L16R NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 16 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AGAATTCTGAAGAAGCAGCAC 0.338000 5 11 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039807 29039807 + Splice_Site SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr18:29039807G>T ENST00000257189.4 + 6 600 c.e6-1 NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTATTCCTAGACTCACTGGT 0.323000 18 50 2.35188e-11 3.3203e-11 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996289 140996289 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:140996289G>A ENST00000285879.4 + 4 3385 c.3099G>A c.(3097-3099)gaG>gaA p.E1033E MAGEC1_ENST00000406005.2_Silent_p.E100E NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1033 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTGGGAGGGAGCACTTTGCCT 0.527000 HNSCC(15;0.026) 24 136 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133942497 133942497 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:133942497G>A ENST00000361069.4 + 14 2631 c.2498G>A c.(2497-2499)cGc>cAc p.R833H LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 833 Laminin EGF-like 8. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CACTGCCTGCGCTGCCTGCAC 0.652000 12 43 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18348707 18348707 + Splice_Site SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:18348707C>A ENST00000251900.4 - 3 250 c.91_splice c.e3+1 p.D31_splice NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 31 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.D31H(1) 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) TAAAACCTACCCCTTTGTACA 0.303000 7 24 0.0381472 0.0396491 1 1 0 OR5I1 10798 broad.mit.edu 37 11 55703818 55703818 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:55703818G>T ENST00000301532.3 - 1 58 c.59C>A c.(58-60)cCa>cAa p.P20Q NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 AGGGCGAGTTGGAAAACCTAA 0.368000 11 56 3.86212e-05 4.4524e-05 1 1 0 SPATA31A3 727830 broad.mit.edu 37 9 40702773 40702773 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr9:40702773G>T ENST00000356699.5 + 4 459 c.430G>T c.(430-432)Gat>Tat p.D144Y SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 GCCTATGGAAGATGCTGCTCC 0.592000 32 169 4.65686e-17 7.10643e-17 1 1 0 PCDH8 5100 broad.mit.edu 37 13 53420525 53420525 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr13:53420525C>A ENST00000377942.3 - 1 2250 c.2047G>T c.(2047-2049)Ggt>Tgt p.G683C PCDH8_ENST00000338862.4_Missense_Mutation_p.G683C NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 683 Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) AACACGCGACCGGGTGGCTCC 0.706000 5 26 0.217242 0.220584 1 1 0 PTPRF 5792 broad.mit.edu 37 1 44070993 44070993 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:44070993C>T ENST00000359947.4 + 18 3608 c.3268C>T c.(3268-3270)Ctg>Ttg p.L1090L PTPRF_ENST00000422171.2_Silent_p.L438L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.L1081L|PTPRF_ENST00000372413.3_Silent_p.L1081L|PTPRF_ENST00000372414.3_Silent_p.L1090L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1090 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTGCAGCACCTGGTGTCCAT 0.637000 20 85 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136872458 136872458 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:136872458G>A ENST00000409817.1 - 1 1355 c.1052C>T c.(1051-1053)tCa>tTa p.S351L CXCR4_ENST00000241393.3_Missense_Mutation_p.S347L|CXCR4_ENST00000466288.1_5'UTR NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 347 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GTGAAAACTTGAAGACTCAGA 0.398000 5 10 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23874847 23874847 + Missense_Mutation SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr14:23874847A>T ENST00000405093.3 - 4 404 c.334T>A c.(334-336)Tgg>Agg p.W112R MYH6_ENST00000356287.3_Missense_Mutation_p.W112R NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 112 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TATATCATCCAGGCCGCGTAG 0.587000 35 25 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173894896 173894896 + Nonsense_Mutation SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:173894896A>T ENST00000264111.6 + 26 2747 c.2560A>T c.(2560-2562)Aag>Tag p.K854* RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.K702*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.K855*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.K711*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.K702*|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.K684*|RAPGEF4_ENST00000535187.1_Nonsense_Mutation_p.K635*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.K855* Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 855 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TTTCAGCTGTAAGGAGTATAA 0.378000 17 38 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139707123 139707123 + Splice_Site SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr8:139707123C>T ENST00000303045.6 - 33 3039 c.e33-1 COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTGTTCTCCCTGTTGGTGAG 0.617000 HNSCC(7;0.00092) 10 59 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33591082 33591082 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr13:33591082G>T ENST00000380099.3 + 1 512 c.504G>T c.(502-504)gaG>gaT p.E168D KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 168 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCAACCGCGAGGGGCTGCGCT 0.721000 11 11 9.70103e-10 1.30004e-09 1 1 0 CLSTN2 64084 broad.mit.edu 37 3 140281772 140281772 + Missense_Mutation SNP T T A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr3:140281772T>A ENST00000458420.3 + 14 2522 c.2332T>A c.(2332-2334)Tac>Aac p.Y778N NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 778 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CAATGGGCGCTACACTAGCAA 0.532000 HNSCC(16;0.037) 9 59 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17838800 17838800 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr19:17838800C>T ENST00000324096.4 + 5 2758 c.2607C>T c.(2605-2607)ccC>ccT p.P869P MAP1S_ENST00000544059.2_Silent_p.P843P|MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 869 Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 TGGCCCGCCCCAACTCACGCG 0.677000 6 5 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248636969 248636969 + Missense_Mutation SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:248636969G>A ENST00000359594.2 + 1 343 c.318G>A c.(316-318)atG>atA p.M106I NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGATCCAGATGTTCTTCTACC 0.542000 40 106 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6943061 6943061 + Nonsense_Mutation SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:6943061C>T ENST00000317834.3 + 1 857 c.829C>T c.(829-831)Cga>Tga p.R277* NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACCTACATGCGACCAAACTC 0.433000 29 75 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106647306 106647306 + Silent SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:106647306C>A ENST00000526355.1 - 6 2163 c.1695G>T c.(1693-1695)gtG>gtT p.V565V GUCY1A2_ENST00000347596.2_Silent_p.V586V|GUCY1A2_ENST00000282249.2_Silent_p.V565V NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 565 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTATTGTTTCCACCTGCAGCA 0.428000 16 55 2.23348e-06 2.65604e-06 1 1 0 IL15RA 3601 broad.mit.edu 37 10 6002511 6002511 + Silent SNP G G A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:6002511G>A ENST00000525219.2 - 4 588 c.294C>T c.(292-294)ccC>ccT p.P98P IL15RA_ENST00000397248.2_Silent_p.P98P|IL15RA_ENST00000379971.1_Silent_p.P36P|IL15RA_ENST00000528354.1_Silent_p.P101P|IL15RA_ENST00000397250.2_Silent_p.P36P|IL15RA_ENST00000379977.3_Silent_p.P134P|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397255.3_Silent_p.P134P|IL15RA_ENST00000530685.1_Silent_p.P101P|IL15RA_ENST00000397251.3_Silent_p.P69P NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 134 cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 TGTTTGAGCTGGGAGATGAAG 0.572000 14 40 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141643729 141643729 + Silent SNP C C T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr2:141643729C>T ENST00000389484.3 - 24 4913 c.3942G>A c.(3940-3942)cgG>cgA p.R1314R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1314 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGCTTTCCCCGGTATATTC 0.308000 TSP Lung(27;0.18) 14 31 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262103 39262103 + Missense_Mutation SNP A A T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr17:39262103A>T ENST00000391415.1 + 1 520 c.463A>T c.(463-465)Agc>Tgc p.S155C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 155 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ccccagctgcagcatctccag 0.672000 3 18 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88098906 88098906 + Missense_Mutation SNP G G T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr16:88098906G>T ENST00000393207.1 + 12 1533 c.1312G>T c.(1312-1314)Gcc>Tcc p.A438S BANP_ENST00000538234.1_Intron|BANP_ENST00000286122.7_Missense_Mutation_p.A438S|BANP_ENST00000393208.2_Missense_Mutation_p.A410S|BANP_ENST00000479780.2_Intron|BANP_ENST00000355163.5_Missense_Mutation_p.A416S|BANP_ENST00000355022.4_Intron NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 438 cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) ctgcctcctggccccatccgt 0.562000 5 20 0.184627 0.188192 1 1 0 SEMA3E 9723 broad.mit.edu 37 7 83014688 83014688 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:83014688C>A ENST00000307792.3 - 16 2264 c.1797G>T c.(1795-1797)ttG>ttT p.L599F SEMA3E_ENST00000427262.1_Missense_Mutation_p.L539F NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 599 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TACATTCCAGCAAAGTACTGT 0.403000 20 202 1.2644e-06 1.55983e-06 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23522821 23522821 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:23522821C>A ENST00000296682.3 + 8 891 c.709C>A c.(709-711)Cgt>Agt p.R237S NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 237 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GCACCCCAACCGTTCAGCCCT 0.567000 HNSCC(3;0.000094) 5 76 0.014758 0.0155223 1 1 0 KIAA0319L 79932 broad.mit.edu 37 1 36019983 36019984 + Frame_Shift_Ins INS - - A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:36019983_36019984insA ENST00000325722.3 - 2 343_344 c.109_110insT c.(109-111)cttfs p.L37fs NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 37 C -> Y (in Ref. 1; AAN61054 and 2; AAG24389). cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAAGCAAAAGCAAGTATAAAAC 0.391 23 67 --- --- --- --- SGIP1 84251 broad.mit.edu 37 1 67155887 67155887 + Frame_Shift_Del DEL C C - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:67155887delC ENST00000371037.4 + 17 1535 c.1458delC c.(1456-1458)agfs p.S486fs SGIP1_ENST00000371035.3_Frame_Shift_Del_p.S276fs|SGIP1_ENST00000371036.3_Frame_Shift_Del_p.S286fs|SGIP1_ENST00000371039.1_Frame_Shift_Del_p.S287fs|SGIP1_ENST00000237247.6_Frame_Shift_Del_p.S517fs NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 486 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GACCTTTTAGCCCTCCCATTC 0.463 14 208 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 216166426 216166426 + Frame_Shift_Del DEL G G - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr1:216166426delG ENST00000366943.2 - 35 7127 c.6741delC c.(6739-6741)ccfs p.P2247fs USH2A_ENST00000307340.3_Frame_Shift_Del_p.P2247fs O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2247 Fibronectin type-III 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGTGGGCTTTGGGGGCTGGCA 0.502 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 352 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32444350 32444352 + In_Frame_Del DEL GCC GCC - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr5:32444350_32444352delGCC ENST00000265069.8 - 2 222_224 c.120_122delGGC c.(118-123)gct>gc p.AA42del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 42 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TTGGgccgcagccgccgccgccg 0.680 2 4 --- --- --- --- DBNL 28988 broad.mit.edu 37 7 44096475 44096475 + Frame_Shift_Del DEL C C - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:44096475delC ENST00000494774.1 + 5 468 c.447delC c.(445-447)ttfs p.F149fs DBNL_ENST00000456905.1_Intron|DBNL_ENST00000452943.1_Frame_Shift_Del_p.F124fs|DBNL_ENST00000448521.1_Frame_Shift_Del_p.F149fs|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Frame_Shift_Del_p.F149fs|DBNL_ENST00000440166.1_Frame_Shift_Del_p.F46fs|DBNL_ENST00000490734.2_Frame_Shift_Del_p.F54fs NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 149 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 GTGGCCGCTTCCAGGACGTGG 0.617 16 108 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87047877 87047877 + Frame_Shift_Del DEL G G - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr7:87047877delG ENST00000265723.4 - 20 2565 c.2454delC c.(2452-2454)gcfs p.A818fs ABCB4_ENST00000453593.1_Frame_Shift_Del_p.A818fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.A818fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.A818fs|ABCB4_ENST00000545634.1_Frame_Shift_Del_p.A818fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 818 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CAGCATCTGTGGCAAGTCTTG 0.383 8 75 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 7 145 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89424037 89424038 + RNA INS - - T TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr11:89424037_89424038insT ENST00000532352.1 + 0 1512 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATGTTTTGTTATTTTTTCTGTA 0.317 12 71 --- --- --- --- UBC 7316 broad.mit.edu 37 12 125397809 125397810 + In_Frame_Ins INS - - CCA TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr12:125397809_125397810insCCA ENST00000536769.1 - 1 2084_2085 c.508_509insTGG c.(508-510)gcc>TGGgcc p.169_170insW UBC_ENST00000339647.5_In_Frame_Ins_p.169_170insW|UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 169 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTCACTGGGCTCCACCTCGAGG 0.520 53 140 --- --- --- --- OTOA 146183 broad.mit.edu 37 16 21698880 21698880 + Frame_Shift_Del DEL G G - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr16:21698880delG ENST00000388958.3 + 7 547 c.546delG c.(544-546)aafs p.K182fs OTOA_ENST00000388956.4_Frame_Shift_Del_p.K103fs|OTOA_ENST00000286149.4_Frame_Shift_Del_p.K182fs NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 182 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TCCTGGGCAAGGTGCTGAGGG 0.592 33 66 --- --- --- --- PDF 64146 broad.mit.edu 37 16 69364026 69364028 + In_Frame_Del DEL GGG GGG - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr16:69364026_69364028delGGG ENST00000288022.1 - 1 470_472 c.446_448delCCC c.(445-450)ctg>c p.PL149del COG8_ENST00000306875.4_Intron NM_022341.1 NP_071736.1 Q9HBH1 DEFM_HUMAN peptide deformylase (mitochondrial) 149 N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation mitochondrion iron ion binding|peptide deformylase activity NS(1)|prostate(1) 2 AACACGCGCAGGGGGAAGGGCTC 0.734 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11097726 11097726 + RNA DEL G G - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chr21:11097726delG ENST00000470054.1 - 0 223 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCCAGTTTCAGCGAAGGCACT 0.587 3 5 --- --- --- --- FAM47A 158724 broad.mit.edu 37 X 34149168 34149168 + Frame_Shift_Del DEL G G - TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:34149168delG ENST00000346193.3 - 1 1279 c.1228delC c.(1228-1230)atfs p.H410fs NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 410 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGGCGGAGATGGCACACTCCA 0.567 42 70 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42384500 42384501 + RNA INS - - A rs58099801 TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx edfe3212-890a-41b8-9cc4-c19ed953df62 589f3819-1d2a-4a9d-8699-e4d6e78eb426 g.chrX:42384500_42384501insA ENST00000411879.1 + 0 523 tttgtctcaggaaaaaaaaaaa 0.421 3 3 --- --- --- ---