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 SSTR1 0 broad.mit.edu 37 14 38679008 38679008 + Silent SNP G G C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr14:38679008G>C ENST00000267377.2 + 3 1031 c.414G>C c.(412-414)gcG>gcC p.A138A NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 138 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GCGTGGACGCGGTCAACATGT 0.647000 5 200 0 0 0.021553 0 0 ZNF555 148254 broad.mit.edu 37 19 2852903 2852903 + Silent SNP C C T rs148620935 TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr19:2852903C>T ENST00000334241.4 + 4 978 c.840C>T c.(838-840)ggC>ggT p.G280G ZNF555_ENST00000591539.1_Silent_p.G279G|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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)|STAD - Stomach adenocarcinoma(1328;0.18) CACACACTGGCGAGAAGCCAT 0.408000 22 55 0 0 0.076483 0 0 LRRC17 10234 broad.mit.edu 37 7 102574365 102574365 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr7:102574365G>A ENST00000249377.4 + 2 286 c.5G>A c.(4-6)cGt>cAt p.R2H FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.R2H|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000393772.2_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 2 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 GTCAGGATGCGTGTGGTTACC 0.493000 14 22 0 0 0.105934 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 87 0 0 0.029380 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059182 79059182 + Missense_Mutation SNP T T C rs143974743 TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr15:79059182T>C ENST00000388820.4 - 19 3281 c.3071A>G c.(3070-3072)cAc>cGc p.H1024R ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1024 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.H1024R(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GGCCAGGTGGTGCGGGATGAA 0.682000 4 58 0 0 0.009096 0 0 MYOCD 93649 broad.mit.edu 37 17 12656007 12656007 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr17:12656007G>A ENST00000425538.1 + 10 1602 c.1402G>A c.(1402-1404)Gct>Act p.A468T MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|MYOCD_ENST00000395988.1_Missense_Mutation_p.A372T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 468 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.A468T(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCTGTCAGTCGCTGGGTCCCT 0.627000 37 67 0 0 0.064281 0 0 EPPK1 83481 broad.mit.edu 37 8 144942253 144942253 + Silent SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr8:144942253G>A ENST00000525985.1 - 2 5240 c.5169C>T c.(5167-5169)gaC>gaT p.D1723D P58107 EPIPL_HUMAN epiplakin 1 1723 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTTGGTGTCGTCGCTGGGGT 0.657000 48 84 0 0 0.139131 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33648939 33648939 + Silent SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr5:33648939G>A ENST00000504830.1 - 9 1802 c.1467C>T c.(1465-1467)tgC>tgT p.C489C ADAMTS12_ENST00000352040.3_Silent_p.C489C|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 489 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTACTTCCTGGCAGAAGGTAG 0.473000 HNSCC(64;0.19) 29 110 0 0 0.108266 0 0 PCDHA4 0 broad.mit.edu 37 5 140188796 140188796 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr5:140188796C>T ENST00000530339.1 + 1 2024 c.2024C>T c.(2023-2025)gCg>gTg p.A675V PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A675V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A675V|PCDHA2_ENST00000526136.1_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGGACAGGCGCCAAAGGCC 0.657000 16 77 0 0 0.033300 0 0 GPC5 2262 broad.mit.edu 37 13 92101015 92101015 + Splice_Site SNP G G T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr13:92101015G>T ENST00000377067.3 + 2 536 c.163_splice c.e2-1 p.G55_splice NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 55 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTGTTCCAGGACCTGATCTT 0.413000 22 46 1.10513e-12 1.40945e-12 0.069288 1 0 PALM2-AKAP2 0 broad.mit.edu 37 9 112900626 112900626 + Silent SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr9:112900626C>T ENST00000374530.3 + 8 2982 c.2802C>T c.(2800-2802)gaC>gaT p.D934D PALM2-AKAP2_ENST00000302798.7_Silent_p.D934D|AKAP2_ENST00000510514.5_Silent_p.D934D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000434623.2_Silent_p.D792D|AKAP2_ENST00000374525.1_Silent_p.D792D|AKAP2_ENST00000259318.7_Silent_p.D703D|AKAP2_ENST00000555236.1_Silent_p.D934D NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 703 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AAGAATCTGACGTGATGGTTG 0.547000 13 39 0 0 0.093190 0 0 DSP 1832 broad.mit.edu 37 6 7571689 7571689 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr6:7571689G>A ENST00000379802.3 + 14 2116 c.1775G>A c.(1774-1776)aGa>aAa p.R592K DSP_ENST00000418664.2_Missense_Mutation_p.R592K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 592 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGTTCATCAGAAATAGCCAA 0.453000 95 171 0 0 0.139131 0 0 SOX17 64321 broad.mit.edu 37 8 55372202 55372202 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr8:55372202G>A ENST00000297316.4 + 2 1096 c.892G>A c.(892-894)Ggc>Agc p.G298S NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 298 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CGTGTACTACGGCGCGATGGG 0.766000 2 0 0 0 0.115264 0 0 CEP89 84902 broad.mit.edu 37 19 33392199 33392199 + Missense_Mutation SNP T T C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr19:33392199T>C ENST00000305768.4 - 15 1773 c.1685A>G c.(1684-1686)cAa>cGa p.Q562R NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 562 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TGCTTTGTTTTGCTCTGTCAA 0.408000 33 134 0 0 0.074837 0 0 LILRA2 0 broad.mit.edu 37 19 55087420 55087420 + Missense_Mutation SNP C C G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr19:55087420C>G ENST00000251377.3 + 7 1232 c.1099C>G c.(1099-1101)Ctg>Gtg p.L367V LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.L355V|LILRA2_ENST00000391738.3_Missense_Mutation_p.L367V|LILRA2_ENST00000251376.3_Missense_Mutation_p.L367V|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCCACTGCATCTGAGATCAGA 0.587000 34 94 0 0 0.092188 0 0 RP11-64J4.2 0 broad.mit.edu 37 17 3213993 3213993 + RNA SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr17:3213993G>A ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA CTGGCCATCTGCCAGTCCCTC 0.562000 41 80 0 0 0.098360 0 0 NOTCH2 4853 broad.mit.edu 37 1 120502127 120502127 + Splice_Site SNP T T C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr1:120502127T>C ENST00000256646.2 - 12 2135 c.e12-2 NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AATTAACCCCTGGAAGAGAAA 0.403000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 14 40 0 0 0.105934 0 0 BAI3 577 broad.mit.edu 37 6 70048901 70048901 + Silent SNP C C T rs138734026 TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr6:70048901C>T ENST00000370598.1 + 25 4103 c.3282C>T c.(3280-3282)aaC>aaT p.N1094N BAI3_ENST00000238918.8_Silent_p.N300N|BAI3_ENST00000546190.1_Silent_p.N58N NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1094 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CCGCCAGTAACGCCATGTTAG 0.398000 49 143 0 0 0.139131 0 0 OLFM1 10439 broad.mit.edu 37 9 137998621 137998621 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr9:137998621G>A ENST00000252854.4 + 5 836 c.649G>A c.(649-651)Gac>Aac p.D217N OLFM1_ENST00000371796.3_Missense_Mutation_p.D208N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D235N NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 235 nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) GGGCATCAGTGACCCCGTGAC 0.637000 8 22 0 0 0.058154 0 0 CD209 30835 broad.mit.edu 37 19 7810483 7810483 + Missense_Mutation SNP C C A rs11465379 byFrequency TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr19:7810483C>A ENST00000315599.7 - 4 691 c.669G>T c.(667-669)aaG>aaT p.K223N CD209_ENST00000354397.6_Missense_Mutation_p.K223N|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K199N|CD209_ENST00000601951.1_Missense_Mutation_p.K199N|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.K179N|CD209_ENST00000593660.1_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.K199N|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 223 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCACTGCAGCCTTCAGCCGGG 0.572000 39 144 1.26778e-28 1.69037e-28 0.139131 1 0 CRISP3 10321 broad.mit.edu 37 6 49701500 49701500 + Missense_Mutation SNP G G C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr6:49701500G>C ENST00000433368.2 - 5 477 c.408C>G c.(406-408)atC>atG p.I136M CRISP3_ENST00000393666.1_Missense_Mutation_p.I113M|CRISP3_ENST00000423399.2_Missense_Mutation_p.I23M|CRISP3_ENST00000263045.4_Missense_Mutation_p.I126M|CRISP3_ENST00000371159.4_Missense_Mutation_p.I144M NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 113 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) ACCAGCTTTGGATTGCTTGTG 0.433000 49 94 0 0 0.139131 0 0 FAM155A 728215 broad.mit.edu 37 13 108518712 108518712 + Missense_Mutation SNP T T C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr13:108518712T>C ENST00000375915.2 - 1 371 c.233A>G c.(232-234)cAg>cGg p.Q78R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 78 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgctgctgctgccgctgctg 0.677000 4 82 0 0 0.009096 0 0 ITGA11 22801 broad.mit.edu 37 15 68620499 68620499 + Missense_Mutation SNP C C A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr15:68620499C>A ENST00000423218.2 - 16 2098 c.2003G>T c.(2002-2004)tGc>tTc p.C668F ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F Q9UKX5 ITA11_HUMAN integrin, alpha 11 668 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity p.C668F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GGCGGCCAGGCAGGTGGCATC 0.577000 10 71 1.11149e-13 1.4384e-13 0.069234 1 0 CDYL2 124359 broad.mit.edu 37 16 80646582 80646582 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr16:80646582G>A ENST00000299564.8 - 5 1314 c.1159C>T c.(1159-1161)Cgc>Tgc p.R387C CDYL2_ENST00000566173.1_Missense_Mutation_p.R388C|CDYL2_ENST00000563890.1_Missense_Mutation_p.R388C|CDYL2_ENST00000562812.1_Missense_Mutation_p.R388C NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 387 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GGCGTGAGGCGGATGGTGGCG 0.657000 37 83 0 0 0.069456 0 0 COL1A2 1278 broad.mit.edu 37 7 94043557 94043557 + Silent SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr7:94043557C>T ENST00000297268.6 + 29 2160 c.1689C>T c.(1687-1689)ccC>ccT p.P563P NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 563 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTCAGGTCCCGCTGGTGAAG 0.428000 HNSCC(75;0.22) 11 46 0 0 0.105934 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 7 40 0 0 0.038147 0 0 C11orf53 341032 broad.mit.edu 37 11 111154951 111154951 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr11:111154951C>T ENST00000280325.4 + 3 305 c.158C>T c.(157-159)gCg>gTg p.A53V NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 53 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CAGAGCCATGCGGCTCTCCTG 0.622000 5 193 0 0 0.014758 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733191 52733191 + Missense_Mutation SNP G G T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr8:52733191G>T ENST00000360540.5 - 7 1200 c.794C>A c.(793-795)gCc>gAc p.A265D PCMTD1_ENST00000522514.1_Missense_Mutation_p.A265D|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A189D NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 265 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) AATCCCCTTGGCCTGCATCTC 0.413000 5 185 1.76689e-08 2.18995e-08 0.058154 1 0 GPATCH1 55094 broad.mit.edu 37 19 33608853 33608853 + Silent SNP A A G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr19:33608853A>G ENST00000170564.2 + 16 2633 c.2319A>G c.(2317-2319)caA>caG p.Q773Q NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 773 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) AGGATGAGCAAGGTGACAGTG 0.537000 25 55 0 0 0.108266 0 0 NCAPG 64151 broad.mit.edu 37 4 17843981 17843981 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr4:17843981C>T ENST00000251496.2 + 20 3079 c.2903C>T c.(2902-2904)aCt>aTt p.T968I NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 968 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) AGGTGTCAGACTGCTGAAGCC 0.353000 17 27 0 0 0.038395 0 0 ATP10B 23120 broad.mit.edu 37 5 160047525 160047525 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr5:160047525G>A ENST00000327245.5 - 15 3091 c.2245C>T c.(2245-2247)Cgc>Tgc p.R749C CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 749 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGGGCAGGCGCACAGTCACC 0.617000 16 38 0 0 0.132662 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42371771 42371771 + Silent SNP C C G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr15:42371771C>G ENST00000290472.3 - 13 1375 c.1281G>C c.(1279-1281)ctG>ctC p.L427L NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 427 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CTAGCGCCCACAGGTCCACAA 0.701000 11 15 0 0 0.069234 0 0 ACIN1 22985 broad.mit.edu 37 14 23550990 23550990 + Silent SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr14:23550990C>T ENST00000262710.1 - 5 993 c.666G>A c.(664-666)agG>agA p.R222R ACIN1_ENST00000555053.1_Silent_p.R222R|ACIN1_ENST00000457657.1_Silent_p.R182R|ACIN1_ENST00000605057.1_Silent_p.R164R NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 222 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTTCTCCTTTCCTTGGTTTCT 0.388000 33 67 0 0 0.080422 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729419 37729419 + Silent SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr8:37729419C>T ENST00000330843.4 - 4 2913 c.2901G>A c.(2899-2901)tcG>tcA p.S967S RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 967 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TTTCATCATCCGATGCGACTT 0.453000 40 87 0 0 0.104719 0 0 HERC2P3 0 broad.mit.edu 37 15 20644046 20644046 + RNA SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr15:20644046G>A ENST00000428453.1 - 0 3413 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CAGGGTTCTCGGAATCAGGGA 0.597000 16 19 0 0 0.033300 0 0 KIF20B 9585 broad.mit.edu 37 10 91498265 91498265 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr10:91498265C>T ENST00000416354.1 + 20 3829 c.3757C>T c.(3757-3759)Ctc>Ttc p.L1253F KIF20B_ENST00000371728.3_Missense_Mutation_p.L1223F|KIF20B_ENST00000394289.2_Missense_Mutation_p.L1223F|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.L1183F Q96Q89 KI20B_HUMAN kinesin family member 20B 1223 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TGTAAAGGAACTCAAGCTGAA 0.299000 13 23 0 0 0.038395 0 0 CD209 30835 broad.mit.edu 37 19 7810552 7810552 + Missense_Mutation SNP C C A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr19:7810552C>A ENST00000315599.7 - 4 622 c.600G>T c.(598-600)aaG>aaT p.K200N CD209_ENST00000354397.6_Missense_Mutation_p.K200N|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K176N|CD209_ENST00000601951.1_Missense_Mutation_p.K176N|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.K156N|CD209_ENST00000593660.1_Missense_Mutation_p.K176N|CD209_ENST00000601256.1_Missense_Mutation_p.K176N|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 200 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCACTGCAGCCTTCAGCCGGG 0.557000 6 216 0.000151284 0.000184903 0.105934 1 0 AK7 122481 broad.mit.edu 37 14 96875258 96875258 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr14:96875258C>T ENST00000267584.4 + 4 522 c.478C>T c.(478-480)Cgc>Tgc p.R160C AK7_ENST00000554313.1_3'UTR NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 160 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GACTTGGGCGCGCTCCAAAGC 0.473000 5 68 0 0 0.021553 0 0 CDK11B 984 broad.mit.edu 37 1 1588852 1588852 + Missense_Mutation SNP C C G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr1:1588852C>G ENST00000407249.3 - 1 83 c.84G>C c.(82-84)gaG>gaC p.E28D CDK11B_ENST00000317673.7_Missense_Mutation_p.E28D|CDK11B_ENST00000340677.5_Missense_Mutation_p.E28D P21127 CD11B_HUMAN cyclin-dependent kinase 11B 28 apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 TCTCTGCTTTCTCCTCTTGTT 0.328000 9 13 0 0 0.058154 0 0 FAT2 2196 broad.mit.edu 37 5 150922417 150922417 + Silent SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr5:150922417G>A ENST00000261800.5 - 9 8283 c.8271C>T c.(8269-8271)caC>caT p.H2757H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2757 Cadherin 24. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGTGGATTCGTGGTCCATGG 0.512000 49 114 0 0 0.139131 0 0 SLC2A3 6515 broad.mit.edu 37 12 8083869 8083869 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr12:8083869C>T ENST00000075120.7 - 4 722 c.482G>A c.(481-483)gGc>gAc p.G161D NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 161 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) AACAACGATGCCCAGCTGGTT 0.488000 26 100 0 0 0.108266 0 0 HPS3 84343 broad.mit.edu 37 3 148884979 148884979 + Silent SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr3:148884979G>A ENST00000296051.2 + 15 2888 c.2748G>A c.(2746-2748)ccG>ccA p.P916P HPS3_ENST00000460120.1_Silent_p.P751P NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 916 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGAGATGCCCGGAGGCAGTCA 0.423000 Hermansky-Pudlak syndrome 3 57 0 0 0.115264 0 0 FDCSP 260436 broad.mit.edu 37 4 71096961 71096961 + Missense_Mutation SNP G G T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr4:71096961G>T ENST00000317987.5 + 2 162 c.50G>T c.(49-51)gGt>gTt p.G17V NM_152997.3 NP_694542.1 Q8NFU4 FDSCP_HUMAN follicular dendritic cell secreted protein 17 extracellular region GTGGCTGTTGGTTTCCCAGTA 0.378000 45 95 4.1673e-28 5.47347e-28 0.139131 1 0 RIPK4 54101 broad.mit.edu 37 21 43161015 43161015 + Missense_Mutation SNP G G A rs140909597 TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr21:43161015G>A ENST00000352483.2 - 9 2546 c.2482C>T c.(2482-2484)Cgg>Tgg p.R828W RIPK4_ENST00000332512.3_Missense_Mutation_p.R780W|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.R717W|RIPK4_ENST00000544709.1_Missense_Mutation_p.R717W Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 780 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TTGCTTCGCCGCAGGAGCGTG 0.667000 15 29 0 0 0.132662 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 8 41 0 0 0.047766 0 0 OR2L8 391190 broad.mit.edu 37 1 248112252 248112252 + Silent SNP T T C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr1:248112252T>C ENST00000357191.3 + 1 93 c.93T>C c.(91-93)gtT>gtC p.V31V OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTCTCATTGTTTTCATTTTCC 0.393000 77 161 0 0 0.139131 0 0 HGS 9146 broad.mit.edu 37 17 79657241 79657241 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr17:79657241G>A ENST00000329138.4 + 6 580 c.445G>A c.(445-447)Gat>Aat p.D149N NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 149 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CAAAGAGAGCGATGCCATGTT 0.617000 39 70 0 0 0.117977 0 0 LACE1 246269 broad.mit.edu 37 6 108768486 108768486 + Missense_Mutation SNP A A G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr6:108768486A>G ENST00000368977.4 + 8 1063 c.877A>G c.(877-879)Aaa>Gaa p.K293E NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 293 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) TGCTGCAGGAAAACTCTACTA 0.328000 22 38 0 0 0.099896 0 0 VPS11 55823 broad.mit.edu 37 11 118941054 118941054 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr11:118941054C>T ENST00000300793.6 + 5 622 c.580C>T c.(580-582)Cgc>Tgc p.R194C VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 195 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) ATTGGCCTTTCGCCAAGCAGG 0.517000 12 23 0 0 0.119110 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 6 0 0 0.009096 0 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 4 178 0 0 0.009096 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 42 0 0 0.115264 0 0 KRT19P2 0 broad.mit.edu 37 12 95228505 95228505 + RNA SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr12:95228505G>A ENST00000405395.2 + 0 276 NR_036685.1 TGAGTGACAGGCAAAGCCAAT 0.552000 8 5 0 0 0.047766 0 0 CLUH 23277 broad.mit.edu 37 17 2601443 2601443 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr17:2601443G>A ENST00000570628.1 - 10 1699 c.1594C>T c.(1594-1596)Cgg>Tgg p.R532W CLUH_ENST00000538975.1_Missense_Mutation_p.R532W|CLUH_ENST00000435359.1_Missense_Mutation_p.R532W|CLUH_ENST00000575014.1_Missense_Mutation_p.R464W clustered mitochondria (cluA/CLU1) homolog p.R532W(2) ACCTGGTGCCGCAGGATCTTG 0.637000 3 8 0 0 0.115264 0 0 NUP210L 91181 broad.mit.edu 37 1 154062057 154062057 + Missense_Mutation SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr1:154062057C>T ENST00000368559.3 - 16 2272 c.2201G>A c.(2200-2202)cGa>cAa p.R734Q NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 734 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATTTCCAATTCGGAATGTGAG 0.423000 44 74 0 0 0.111260 0 0 DSP 1832 broad.mit.edu 37 6 7571618 7571618 + Silent SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr6:7571618G>A ENST00000379802.3 + 14 2045 c.1704G>A c.(1702-1704)ctG>ctA p.L568L DSP_ENST00000418664.2_Silent_p.L568L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 568 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCTTTCAGCTGAAAACAATGC 0.453000 110 200 0 0 0.139131 0 0 SHROOM1 134549 broad.mit.edu 37 5 132159379 132159379 + Missense_Mutation SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr5:132159379G>A ENST00000378679.3 - 8 2693 c.1889C>T c.(1888-1890)cCt>cTt p.P630L SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Missense_Mutation_p.P561L|SHROOM1_ENST00000319854.3_Missense_Mutation_p.P630L NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 630 ASD2. actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCAAGCACAGGGTGGGTGGC 0.612000 40 96 0 0 0.080422 0 0 HJURP 55355 broad.mit.edu 37 2 234750376 234750376 + Missense_Mutation SNP C C G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr2:234750376C>G ENST00000411486.2 - 8 1115 c.1050G>C c.(1048-1050)aaG>aaC p.K350N HJURP_ENST00000441687.1_Missense_Mutation_p.K265N|HJURP_ENST00000432087.1_Missense_Mutation_p.K296N NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 350 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TTAAACCTGTCTTACGGCAAG 0.443000 21 37 0 0 0.062417 0 0 HLA-F 3134 broad.mit.edu 37 6 29693049 29693049 + Silent SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr6:29693049C>T ENST00000440587.2 + 4 857 c.498C>T c.(496-498)caC>caT p.H166H HLA-F_ENST00000259951.7_Silent_p.H284H|HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000334668.4_Silent_p.H284H|HLA-F_ENST00000376861.1_Silent_p.H284H P30511 HLAF_HUMAN major histocompatibility complex, class I, F 284 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 ATGTGCAGCACGAGGGGCTGC 0.597000 22 61 0 0 0.069288 0 0 CABP2 51475 broad.mit.edu 37 11 67287316 67287316 + Silent SNP G G A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr11:67287316G>A ENST00000294288.4 - 6 654 c.585C>T c.(583-585)gaC>gaT p.D195D CABP2_ENST00000353903.5_Silent_p.D138D NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 195 EF-hand 4. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 GGAGGATCTCGTCCACCTCCC 0.667000 17 58 0 0 0.049695 0 0 TRA2B 6434 broad.mit.edu 37 3 185639892 185639892 + Missense_Mutation SNP A A C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr3:185639892A>C ENST00000453386.2 - 5 820 c.545T>G c.(544-546)aTg>aGg p.M182R TRA2B_ENST00000382191.4_Missense_Mutation_p.M82R NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 182 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 ATCAAGCTCCATTCCATTGGC 0.408000 12 46 0 0 0.093190 0 0 SLC36A2 153201 broad.mit.edu 37 5 150704990 150704990 + Missense_Mutation SNP C C A TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr5:150704990C>A ENST00000335244.4 - 8 996 c.867G>T c.(865-867)atG>atT p.M289I SLC36A2_ENST00000521967.1_Missense_Mutation_p.M289I|SLC36A2_ENST00000450886.1_Missense_Mutation_p.M13I NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 289 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGCATTCTTCATCTTGTTTT 0.468000 24 46 1.22574e-08 1.54093e-08 0.069288 1 0 OR2T8 343172 broad.mit.edu 37 1 248084419 248084419 + Silent SNP T T C TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr1:248084419T>C ENST00000319968.4 + 1 100 c.100T>C c.(100-102)Ttg>Ctg p.L34L NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGTATCGTTTTGACCTCCCT 0.488000 27 48 0 0 0.054565 0 0 CDC40 51362 broad.mit.edu 37 6 110533410 110533410 + Missense_Mutation SNP A A G rs147439944 byFrequency TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr6:110533410A>G ENST00000368932.1 + 8 903 c.802A>G c.(802-804)Act>Gct p.T268A CDC40_ENST00000368930.1_Missense_Mutation_p.T268A|CDC40_ENST00000368933.1_Missense_Mutation_p.T268A|CDC40_ENST00000307731.1_Missense_Mutation_p.T268A O60508 PRP17_HUMAN cell division cycle 40 268 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) TCTACGGTCAACTATGCCACC 0.383000 35 50 0 0 0.069456 0 0 RELN 5649 broad.mit.edu 37 7 103338477 103338477 + Silent SNP C C T TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr7:103338477C>T ENST00000424685.2 - 10 1125 c.966G>A c.(964-966)gaG>gaA p.E322E RELN_ENST00000343529.5_Silent_p.E322E|RELN_ENST00000428762.1_Silent_p.E322E P78509 RELN_HUMAN reelin 322 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTGGACATTCTCCCCTTTGG 0.458000 66 178 0 0 0.139131 0 0 AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 4 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589632 67589634 + In_Frame_Del DEL ATT ATT - TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr5:67589632_67589634delATT ENST00000521381.1 + 11 2011_2013 c.1395_1397delATT c.(1393-1398)aga>ag p.RL465del PIK3R1_ENST00000274335.5_In_Frame_Del_p.RL465del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.RL465del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.RL195del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.RL102del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.RL465del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.RL165del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 465 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.Y463_L466del(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AATATGATAGATTATATGAAGAA 0.291 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 14 51 --- --- --- --- FAM135B 51059 broad.mit.edu 37 8 139158292 139158292 + Splice_Site DEL C C - TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr8:139158292delC ENST00000395297.1 - 15 3620 c.3448_splice c.e15-1 p.G1150_splice NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1150 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTGCACTGTTCCCTAAAAATG 0.448 HNSCC(54;0.14) 32 97 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 3 5 --- --- --- --- AC108004.3 0 broad.mit.edu 37 17 260080 260081 + RNA INS - - G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx adacd0a6-53f0-46c1-9f59-e30cb1b56164 1026b480-665c-4646-8fec-982cc07dca1e g.chr17:260080_260081insG ENST00000466740.2 - 0 330 CCGCGGTCCGTGGGGCACCGGG 0.688 4 5 --- --- --- ---