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 PRAMEF11 440560 broad.mit.edu 37 1 12884845 12884845 + Silent SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:12884845G>A ENST00000535591.1 - 4 1461 c.1266C>T c.(1264-1266)ggC>ggT p.G422G NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 422 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATGACCTGTCGCCATGGTCAG 0.473 11 367 --- --- --- --- VCAM1 7412 broad.mit.edu 37 1 101188742 101188742 + Missense_Mutation SNP C C G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:101188742C>G ENST00000294728.2 + 3 608 c.507C>G c.(505-507)gaC>gaG p.D169E VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 169 Ig-like C2-type 2. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGGATGCAGACAGGAAGTCCC 0.418 13 43 --- --- --- --- GDAP2 54834 broad.mit.edu 37 1 118455305 118455305 + Splice_Site SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:118455305C>A ENST00000369443.5 - 4 566 c.317G>T c.(316-318)gGg>gTg p.G106V GDAP2_ENST00000369442.3_Splice_Site_p.G106V NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 Macro. G -> S (in dbSNP:rs12753610). kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) TGTTCGGCACCCTGAAAACAA 0.388 4 76 --- --- --- --- TNN 63923 broad.mit.edu 37 1 175054615 175054615 + Silent SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr1:175054615C>T ENST00000239462.4 + 6 1422 c.1309C>T c.(1309-1311)Ctg>Ttg p.L437L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 437 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCGATCCTCCTGAATGGCAG 0.517 6 12 --- --- --- --- GTF3C2 2976 broad.mit.edu 37 2 27564920 27564920 + Silent SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr2:27564920G>T ENST00000359541.2 - 4 1179 c.750C>A c.(748-750)ctC>ctA p.L250L GTF3C2_ENST00000264720.3_Silent_p.L250L|AC109828.1_ENST00000590383.1_RNA Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 250 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTCAACCTGGAGAAAAAAGT 0.562 5 95 --- --- --- --- WDR54 84058 broad.mit.edu 37 2 74652599 74652599 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr2:74652599C>A ENST00000348227.4 + 9 942 c.854C>A c.(853-855)cCa>cAa p.P285Q WDR54_ENST00000409791.1_Missense_Mutation_p.P233Q|WDR54_ENST00000461531.1_3'UTR NM_032118.2 NP_115494.1 Q9H977 WDR54_HUMAN WD repeat domain 54 285 breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 AGCAGAAACCCAGAGAGTGGC 0.602 5 156 --- --- --- --- SUMO1 7341 broad.mit.edu 37 2 203071992 203071992 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr2:203071992C>A ENST00000392246.2 - 5 446 c.290G>T c.(289-291)gGt>gTt p.G97V SUMO1_ENST00000409498.2_Missense_Mutation_p.G58V|SUMO1_ENST00000409205.1_Missense_Mutation_p.G58V|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392244.3_Missense_Mutation_p.G72V|SUMO1_ENST00000392245.1_Missense_Mutation_p.G97V|SUMO1_ENST00000409712.1_Missense_Mutation_p.G73V|SUMO1_ENST00000409368.1_Missense_Mutation_p.G142V|SUMO1_ENST00000409181.1_3'UTR NM_003352.4 NP_003343.1 P63165 SUMO1_HUMAN small ubiquitin-like modifier 1 97 Ubiquitin-like. DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization cytoplasm|nuclear membrane|nuclear pore|nuclear speck ubiquitin protein ligase binding TGTTGAATGACCCCCCGTTTG 0.303 6 286 --- --- --- --- SP110 3431 broad.mit.edu 37 2 231033887 231033887 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr2:231033887G>A ENST00000258381.6 - 19 2172 c.2095C>T c.(2095-2097)Ctc>Ttc p.L699F AC009950.2_ENST00000609120.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.L675F NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein 675 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TGAAAACCGAGCACGTCTTTG 0.458 74 151 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33552113 33552113 + Missense_Mutation SNP T T C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr3:33552113T>C ENST00000399362.4 - 37 4628 c.4275A>G c.(4273-4275)atA>atG p.I1425M CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000539981.1_3'UTR NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 1427 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 ACACTCTCTCTATCACTTTTG 0.413 9 61 --- --- --- --- MYRIP 25924 broad.mit.edu 37 3 40211572 40211572 + Silent SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr3:40211572C>A ENST00000302541.6 + 8 1203 c.861C>A c.(859-861)ccC>ccA p.P287P MYRIP_ENST00000425621.1_Silent_p.P287P|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.P198P|MYRIP_ENST00000444716.1_Silent_p.P287P|MYRIP_ENST00000539167.1_Silent_p.P100P NM_001284423.1|NM_001284426.1|NM_015460.2 NP_001271352.1|NP_001271355.1|NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 287 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACCGTGCTCCCGCTGCCCTCT 0.597 4 88 --- --- --- --- SLC2A9 56606 broad.mit.edu 37 4 9982359 9982359 + Missense_Mutation SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:9982359C>T ENST00000506583.1 - 7 668 c.451G>A c.(451-453)Gtc>Atc p.V151I SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 180 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CTGAGGGCGACGCCTGTAGAG 0.557 4 43 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140641036 140641036 + Missense_Mutation SNP A A T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:140641036A>T ENST00000509479.2 - 5 3714 c.2858T>A c.(2857-2859)aTg>aAg p.M953K MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 949 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GACTGTTCCCATAAGGCTCTG 0.577 55 79 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155157178 155157178 + Missense_Mutation SNP A A G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:155157178A>G ENST00000357232.4 - 25 7260 c.7261T>C c.(7261-7263)Ttt>Ctt p.F2421L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATGGGCTCAAATTCATCTATC 0.433 3 53 --- --- --- --- FSTL5 56884 broad.mit.edu 37 4 162680679 162680679 + Missense_Mutation SNP A A G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:162680679A>G ENST00000306100.5 - 6 1047 c.611T>C c.(610-612)aTa>aCa p.I204T FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 204 EF-hand 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTCCTGTTTTATCACCTAACA 0.274 11 53 --- --- --- --- CLCN3 1182 broad.mit.edu 37 4 170625197 170625197 + Missense_Mutation SNP G G C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr4:170625197G>C ENST00000513761.1 + 10 2171 c.1612G>C c.(1612-1614)Gga>Cga p.G538R CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 538 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AGCGATCGCAGGAAGGATTGT 0.507 13 70 --- --- --- --- HAPLN1 1404 broad.mit.edu 37 5 82940276 82940276 + Silent SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr5:82940276C>A ENST00000274341.4 - 4 1531 c.681G>T c.(679-681)ggG>ggT p.G227G NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 227 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TGTTCTGCCCCCCACAGGGCT 0.517 19 87 --- --- --- --- CLINT1 9685 broad.mit.edu 37 5 157218974 157218974 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr5:157218974C>A ENST00000523094.1 - 10 1268 c.1063G>T c.(1063-1065)Ggt>Tgt p.G355C CLINT1_ENST00000523908.1_Missense_Mutation_p.G373C|CLINT1_ENST00000411809.2_Missense_Mutation_p.G373C|CLINT1_ENST00000530742.1_Missense_Mutation_p.G355C|CLINT1_ENST00000296951.5_Missense_Mutation_p.G355C NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 373 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCCAGTCACCAAAGTCTCCA 0.468 4 71 --- --- --- --- LINC00336 401253 broad.mit.edu 37 6 33561062 33561062 + RNA SNP C C T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr6:33561062C>T ENST00000477984.1 - 0 53 NR_027908.1 CCACGACTGCCAGGCCACCCC 0.687 7 15 --- --- --- --- TMEM217 221468 broad.mit.edu 37 6 37186257 37186257 + Missense_Mutation SNP T T C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr6:37186257T>C ENST00000336655.2 - 2 589 c.550A>G c.(550-552)Att>Gtt p.I184V TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V|TMEM217_ENST00000497775.1_Intron NM_145316.3 NP_660359.2 Q8N7C4 TM217_HUMAN transmembrane protein 217 184 integral to membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(1) 9 ccACTCGAAATTGATAATCTT 0.478 4 113 --- --- --- --- PKHD1 5314 broad.mit.edu 37 6 51613252 51613252 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr6:51613252C>A ENST00000371117.3 - 58 9437 c.9162G>T c.(9160-9162)gaG>gaT p.E3054D PKHD1_ENST00000340994.4_Missense_Mutation_p.E3054D NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3054 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AGGCCTGACCCTCTAAATCTA 0.498 4 95 --- --- --- --- PREP 5550 broad.mit.edu 37 6 105821366 105821366 + Missense_Mutation SNP A A C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr6:105821366A>C ENST00000369110.3 - 5 665 c.473T>G c.(472-474)gTt>gGt p.V158G NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 158 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) GGCACCATCAACTTTCATGAA 0.473 10 83 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55240710 55240710 + Missense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr7:55240710G>T ENST00000275493.2 + 17 2131 c.1954G>T c.(1954-1956)Ggg>Tgg p.G652W EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G599W|EGFR_ENST00000455089.1_Missense_Mutation_p.G607W NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 652 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGGGATGGTGGGGGCCCTCCT 0.622 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 106 --- --- --- --- ANK1 286 broad.mit.edu 37 8 41557063 41557063 + Missense_Mutation SNP T T G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr8:41557063T>G ENST00000396942.1 - 23 2548 c.2465A>C c.(2464-2466)gAa>gCa p.E822A ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A P16157 ANK1_HUMAN ankyrin 1, erythrocytic 822 89 kDa domain. 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) GATGAGTTCTTCCCCTGAAAC 0.522 50 155 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109736551 109736551 + Silent SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr9:109736551C>A ENST00000277225.5 + 9 7118 c.6829C>A c.(6829-6831)Cga>Aga p.R2277R ZNF462_ENST00000457913.1_Silent_p.R2337R|ZNF462_ENST00000441147.2_Silent_p.R1183R|ZNF462_ENST00000542028.1_Silent_p.R234R Q96JM2 ZN462_HUMAN zinc finger protein 462 2277 Missing (in Ref. 4; AK027866). transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CGTGCTGCACCGAGGTAACCT 0.547 7 376 --- --- --- --- ENKUR 219670 broad.mit.edu 37 10 25304914 25304914 + Translation_Start_Site SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr10:25304914C>A ENST00000331161.4 - 0 171 ENKUR_ENST00000376363.1_De_novo_Start_OutOfFrame NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein cilium|flagellum calmodulin binding|SH3 domain binding endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 TTTTTTCTCCCTGTCCCAGTA 0.473 4 39 --- --- --- --- CSGALNACT2 55454 broad.mit.edu 37 10 43650664 43650664 + Missense_Mutation SNP T T A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr10:43650664T>A ENST00000374466.3 + 2 402 c.67T>A c.(67-69)Tgc>Agc p.C23S CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 23 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGCTTTGCTCTGCAGTTTGGT 0.438 5 84 --- --- --- --- WAPAL 23063 broad.mit.edu 37 10 88277723 88277723 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr10:88277723C>A ENST00000298767.5 - 2 576 c.104G>T c.(103-105)tGg>tTg p.W35L NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 35 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 GGTCTCTCCCCATTTTGTGCT 0.403 4 77 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528213 125528213 + Silent SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr10:125528213C>A ENST00000241305.3 - 9 1282 c.1128G>T c.(1126-1128)gcG>gcT p.A376A CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 376 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGTGGGCCCCCGCGATGTAGT 0.582 4 143 --- --- --- --- FAM53B 9679 broad.mit.edu 37 10 126370648 126370648 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr10:126370648C>A ENST00000337318.3 - 4 645 c.434G>T c.(433-435)cGc>cTc p.R145L FAM53B_ENST00000392754.3_Missense_Mutation_p.R145L|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.R145L NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 145 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GCTGTAGCAGCGTCTCTTTTC 0.617 3 43 --- --- --- --- NLRP14 338323 broad.mit.edu 37 11 7064143 7064143 + Missense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr11:7064143G>T ENST00000299481.4 + 4 1232 c.886G>T c.(886-888)Gtg>Ttg p.V296L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 296 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GCTGAGGAAAGTGATGCTCCC 0.448 13 53 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118223127 118223127 + Silent SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr11:118223127G>A ENST00000532917.1 + 6 560 c.492G>A c.(490-492)aaG>aaA p.K164K CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 164 ITAM. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AGCCCCTCAAGGATCGAGAAG 0.393 74 118 --- --- --- --- SLC38A4 55089 broad.mit.edu 37 12 47163194 47163194 + Missense_Mutation SNP G G C TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr12:47163194G>C ENST00000447411.1 - 14 1523 c.1317C>G c.(1315-1317)atC>atG p.I439M SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 439 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ATAACAGTGTGATCACTGATG 0.363 12 60 --- --- --- --- CFL2 1073 broad.mit.edu 37 14 35182678 35182678 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr14:35182678C>A ENST00000341223.3 - 2 244 c.93G>T c.(91-93)aaG>aaT p.K31N CFL2_ENST00000555765.1_Missense_Mutation_p.K14N|CFL2_ENST00000298159.6_Missense_Mutation_p.K31N|CFL2_ENST00000556161.1_Missense_Mutation_p.K14N NM_001243645.1|NM_021914.7 NP_001230574.1|NP_068733.1 Q9Y281 COF2_HUMAN cofilin 2 (muscle) 31 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(3)|endometrium(2)|lung(3) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) CTTTCTTTCTCTTTTTGATCT 0.353 4 57 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101349274 101349274 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr14:101349274G>A ENST00000534062.1 - 1 1910 c.1852C>T c.(1852-1854)Cct>Tct p.P618S NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 618 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GCACCCACAGGTTCCCAAGGC 0.542 6 40 --- --- --- --- TNFRSF13B 23495 broad.mit.edu 37 17 16843703 16843703 + Missense_Mutation SNP C C A rs150101848 byFrequency TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr17:16843703C>A ENST00000437538.2 - 3 438 c.430G>T c.(430-432)Ggg>Tgg p.G144W TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G190W|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G144W O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 190 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 CAGGGATCCCCCCTCTTCTTG 0.647 IgA Deficiency, Selective 4 97 --- --- --- --- TUBG1 7283 broad.mit.edu 37 17 40766928 40766928 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr17:40766928C>A ENST00000251413.3 + 11 1287 c.1225C>A c.(1225-1227)Cgc>Agc p.R409S NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 409 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GGAGCAGTTCCGCAAGGAGGA 0.537 5 157 --- --- --- --- CSHL1 1444 broad.mit.edu 37 17 61988132 61988132 + Missense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr17:61988132G>T ENST00000392824.4 - 2 224 c.163C>A c.(163-165)Cag>Aag p.Q55K CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.Q55K|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 55 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATAAACTCCTGGTAGGTGTCA 0.557 6 267 --- --- --- --- SERPINB7 8710 broad.mit.edu 37 18 61471819 61471819 + Missense_Mutation SNP A A T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr18:61471819A>T ENST00000398019.2 + 8 1418 c.1093A>T c.(1093-1095)Atc>Ttc p.I365F SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 365 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) CCTATTTGTTATCAGGAAGGA 0.453 4 90 --- --- --- --- MAP1S 55201 broad.mit.edu 37 19 17831813 17831813 + Silent SNP C C A rs7255978 TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr19:17831813C>A ENST00000324096.4 + 2 338 c.187C>A c.(187-189)Cga>Aga p.R63R MAP1S_ENST00000544059.2_Silent_p.R37R|MAP1S_ENST00000597681.1_Intron NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 63 Necessary for the microtubule-organizing center localization. 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 CTTTGTGTCCCGACACTCTGC 0.577 4 151 --- --- --- --- GPATCH1 55094 broad.mit.edu 37 19 33602720 33602720 + Missense_Mutation SNP C C G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr19:33602720C>G ENST00000170564.2 + 12 1990 c.1676C>G c.(1675-1677)gCa>gGa p.A559G NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 559 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CTGCTGTACGCATCTTCCCAT 0.607 3 119 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345560 23345560 + Silent SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr20:23345560C>A ENST00000338121.5 + 2 617 c.540C>A c.(538-540)tcC>tcA p.S180S GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Silent_p.S180S Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 180 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TCACGGATTCCTTGGACTACC 0.552 4 74 --- --- --- --- ALG12 79087 broad.mit.edu 37 22 50297538 50297538 + Missense_Mutation SNP A A G TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chr22:50297538A>G ENST00000330817.6 - 10 1688 c.1415T>C c.(1414-1416)gTc>gCc p.V472A CITF22-1A6.3_ENST00000610245.1_lincRNA NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CTGCAGGTGGACGTTGAAGGG 0.657 3 114 --- --- --- --- CTPS2 56474 broad.mit.edu 37 X 16720991 16720991 + Nonsense_Mutation SNP G G T TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chrX:16720991G>T ENST00000443824.1 - 2 778 c.35C>A c.(34-36)tCa>tAa p.S12* CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*|CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12* NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 12 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) ACCAATGCCTGAGATGACCCC 0.438 5 72 --- --- --- --- ZNF630 57232 broad.mit.edu 37 X 47919356 47919356 + Missense_Mutation SNP C C A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chrX:47919356C>A ENST00000276054.4 - 5 1037 c.103G>T c.(103-105)Ggg>Tgg p.G35W ZNF630_ENST00000409324.3_Missense_Mutation_p.G159W|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.G145W Q2M218 ZN630_HUMAN zinc finger protein 630 159 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 AACATTTTCCCAAATGCACTG 0.388 3 29 --- --- --- --- DACH2 117154 broad.mit.edu 37 X 86068206 86068206 + Missense_Mutation SNP G G A TCGA-HC-7075-01A-11D-1961-08 TCGA-HC-7075-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58 f10cbfd4-a508-4061-a2b0-767db51dc211 g.chrX:86068206G>A ENST00000373131.1 + 8 1587 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 488 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AAGGAGCTGCGACTGGAGCTC 0.413 9 4 --- --- --- ---