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 USP40 55230 broad.mit.edu 37 2 234434124 234434124 + Splice_Site SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:234434124C>T ENST00000251722.6 - 14 1924 c.1807_splice c.e14+1 p.G603_splice USP40_ENST00000427112.2_Splice_Site_p.G603_splice|USP40_ENST00000450966.1_Splice_Site_p.G615_splice Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 603 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TTTATCTTACCGCCAAGTGAC 0.403000 5 40 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 127 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 127 0 0 1 0 0 CUL5 8065 broad.mit.edu 37 11 107968473 107968473 + Silent SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:107968473C>T ENST00000393094.2 + 17 2632 c.2016C>T c.(2014-2016)ttC>ttT p.F672F NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 672 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) ACCAGGAGTTCAGTTTAATGT 0.338000 13 80 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18152553 18152553 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:18152553G>A ENST00000375406.1 + 3 856 c.640G>A c.(640-642)Gtg>Atg p.V214M NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 214 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CAAGTGCTACGTGCCGCAGAA 0.567000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 48 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119106933 119106933 + Silent SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr9:119106933C>T ENST00000328252.3 + 14 4092 c.3723C>T c.(3721-3723)agC>agT p.S1241S PAPPA_ENST00000534838.1_Silent_p.S279S NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1241 Sushi 1. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTACTGTGAGCTGCCGGACAG 0.582000 4 83 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120567452 120567452 + Missense_Mutation SNP C C G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:120567452C>G ENST00000263708.2 + 2 794 c.23C>G c.(22-24)cCt>cGt p.P8R PTPN4_ENST00000460162.1_3'UTR NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 8 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTCCGATTGCCTGCTGGCAGA 0.388000 36 54 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103291134 103291134 + Missense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr8:103291134G>T ENST00000520539.1 - 44 6814 c.6208C>A c.(6208-6210)Cca>Aca p.P2070T UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2070 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCCTGACTTGGACGGCCAAAA 0.353000 5 146 0.217242 0.217242 1 1 0 FNDC1 84624 broad.mit.edu 37 6 159654416 159654416 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr6:159654416G>A ENST00000297267.9 + 11 3072 c.2872G>A c.(2872-2874)Gcg>Acg p.A958T FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 958 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GAGCACAGACGCGGACACGGA 0.622000 4 27 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241658482 241658482 + Missense_Mutation SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:241658482C>T ENST00000498729.2 - 47 5401 c.5155G>A c.(5155-5157)Gtg>Atg p.V1719M KIF1A_ENST00000320389.7_Missense_Mutation_p.V1618M NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1618 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AGGTTGAGCACGAACCGCTCC 0.662000 4 100 0 0 1 0 0 TRBV7-4 0 broad.mit.edu 37 7 142176782 142176782 + RNA SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr7:142176782G>T ENST00000390369.2 - 0 8 AGAGGAGCCTGGTGCCCATGG 0.552000 4 87 0.00116845 0.00128932 1 1 0 SEPT7 989 broad.mit.edu 37 7 35913345 35913345 + Missense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr7:35913345G>T ENST00000494488.2 + 5 430 c.430G>T c.(430-432)Gtg>Ttg p.V144L SEPT7_ENST00000350320.6_Missense_Mutation_p.V157L|SEPT7_ENST00000435235.1_Missense_Mutation_p.V105L|SEPT7_ENST00000469679.2_Missense_Mutation_p.V157L|SEPT7_ENST00000399035.3_Missense_Mutation_p.V157L|SEPT7_ENST00000399034.2_Missense_Mutation_p.V159L|SEPT7_ENST00000475109.1_3'UTR Q16181 SEPT7_HUMAN septin 7 158 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 TGATAACAGGGTGCAGTGTTG 0.408000 5 158 0.000602214 0.000688245 1 1 0 OR52E2 119678 broad.mit.edu 37 11 5080816 5080816 + Silent SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:5080816G>A ENST00000321522.2 - 1 41 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAGCAACAGGAAGGAGGAGG 0.483000 4 44 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882445 68882445 + Missense_Mutation SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:68882445C>T ENST00000303786.3 + 3 1339 c.919C>T c.(919-921)Cgc>Tgc p.R307C PROKR1_ENST00000394342.2_Missense_Mutation_p.R307C Q8TCW9 PKR1_HUMAN prokineticin receptor 1 307 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CACCATCGTGCGCGACTTCTT 0.577000 10 56 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160665083 160665083 + Splice_Site SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:160665083C>A ENST00000263636.4 - 33 4727 c.e33-1 LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GCAGAGTGATCTGTTGAAAGA 0.313000 10 39 6.42651e-13 8.22594e-13 1 1 0 FBXO42 54455 broad.mit.edu 37 1 16641764 16641764 + Silent SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:16641764C>A ENST00000375592.3 - 2 366 c.150G>T c.(148-150)ctG>ctT p.L50L FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 50 F-box. autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) CCTCTTCTGGCAGCTCCGACA 0.488000 9 69 0.0581538 0.0610138 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 4 16 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022612 76022612 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr6:76022612G>A ENST00000393004.2 - 5 3157 c.2936C>T c.(2935-2937)tCc>tTc p.S979F FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F|FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 979 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TGTGACTGGGGACATGGCTCG 0.448000 8 171 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692051 116692051 + Silent SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:116692051C>T ENST00000357780.3 - 3 837 c.723G>A c.(721-723)ctG>ctA p.L241L NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCTGGAAGGTCAGGCCCTCAA 0.632000 21 133 0 0 1 0 0 MRPL13 28998 broad.mit.edu 37 8 121426335 121426335 + Missense_Mutation SNP A A C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr8:121426335A>C ENST00000306185.3 - 6 701 c.410T>G c.(409-411)aTt>aGt p.I137S NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 137 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) ATTCTTAAGAATATCTTCTGG 0.289000 8 23 0 0 1 0 0 ARHGEF1 0 broad.mit.edu 37 19 42396405 42396405 + Missense_Mutation SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:42396405C>A ENST00000599846.1 + 6 453 c.328C>A c.(328-330)Ctc>Atc p.L110I ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 110 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TGAGCAGGTTCTCCGGGTGCC 0.612000 5 134 0.00116845 0.00128932 1 1 0 ZNF830 91603 broad.mit.edu 37 17 33289179 33289179 + Silent SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr17:33289179G>T ENST00000361952.3 + 1 631 c.594G>T c.(592-594)cgG>cgT p.R198R NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 198 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) CCTCTTCACGGGAGGTAACAA 0.507000 3 36 0.115264 0.118982 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53563401 53563401 + Missense_Mutation SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chrX:53563401C>T ENST00000342160.3 - 78 12822 c.12365G>A c.(12364-12366)cGt>cAt p.R4122H HUWE1_ENST00000262854.6_Missense_Mutation_p.R4122H Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4122 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.R4012H(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTCCAGAAGACGGTTGTCATA 0.493000 13 48 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468000 7 208 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9006353 9006353 + Missense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:9006353G>T ENST00000397910.4 - 45 39868 c.39665C>A c.(39664-39666)aCc>aAc p.T13222N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13224 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTGAGCAAGGTCAGTCTGCA 0.502000 4 122 0.150653 0.153045 1 1 0 MUC16 94025 broad.mit.edu 37 19 9006392 9006392 + Missense_Mutation SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:9006392C>T ENST00000397910.4 - 45 39829 c.39626G>A c.(39625-39627)aGc>aAc p.S13209N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13211 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AACACTGGTGCTCTTGAACAA 0.562000 4 116 0 0 1 0 0 NIPSNAP3B 55335 broad.mit.edu 37 9 107528754 107528754 + Missense_Mutation SNP T T C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr9:107528754T>C ENST00000374762.3 + 2 280 c.209T>C c.(208-210)gTt>gCt p.V70A NIPSNAP3B_ENST00000461177.1_Intron NM_018376.2 NP_060846.2 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B (C. elegans) 70 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 TCTGAATTGGTTGGATTCTGG 0.328000 10 111 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 5 50 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56160643 56160643 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr5:56160643G>A ENST00000399503.3 + 4 917 c.917G>A c.(916-918)cGc>cAc p.R306H NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 306 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding p.R143H(1) NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GAAACAAACCGCCGTGTTAAC 0.488000 7 58 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44433202 44433202 + Missense_Mutation SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr21:44433202C>T ENST00000291547.5 + 5 587 c.376C>T c.(376-378)Cgc>Tgc p.R126C PKNOX1_ENST00000432907.2_Missense_Mutation_p.R9C NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 126 R -> H (in dbSNP:rs9976017). sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 CCAGGTTTTGCGCATTCATCT 0.373000 7 107 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587012 15587012 + Missense_Mutation SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:15587012C>A ENST00000292609.4 - 2 598 c.469G>T c.(469-471)Gat>Tat p.D157Y PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 157 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GCCACAACATCTGGAAAGGTA 0.582000 10 54 0.00621372 0.0067403 1 1 0 SLC38A11 151258 broad.mit.edu 37 2 165755002 165755002 + Missense_Mutation SNP G G C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:165755002G>C ENST00000303735.4 - 10 1430 c.1100C>G c.(1099-1101)tCt>tGt p.S367C SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 389 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 CTGAACATGAGACTCTGAGGT 0.353000 3 53 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84118519 84118519 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr10:84118519G>A ENST00000372142.2 + 3 459 c.185G>A c.(184-186)cGa>cAa p.R62Q NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R283Q NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 283 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TCCACAGAGCGATCCGAGCAC 0.517000 9 61 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24731392 24731392 + Missense_Mutation SNP G G A rs147479810 TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr14:24731392G>A ENST00000206765.6 - 2 290 c.167C>T c.(166-168)gCg>gTg p.A56V TGM1_ENST00000544573.1_5'UTR NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 56 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GTCATCTGCCGCATTTCGGCA 0.657000 10 62 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109545824 109545824 + Silent SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:109545824G>A ENST00000409271.1 - 5 629 c.186C>T c.(184-186)taC>taT p.Y62Y EDAR_ENST00000376651.1_Silent_p.Y62Y|EDAR_ENST00000258443.2_Silent_p.Y62Y Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 62 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTTTGGTGCCGTAGCCACAGG 0.602000 3 47 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 100 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220334050 220334050 + Missense_Mutation SNP T T C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:220334050T>C ENST00000312358.7 + 13 3796 c.3664T>C c.(3664-3666)Ttc>Ctc p.F1222L SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1222 Ig-like 6. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CATCAGCTGGTTCCACAATGG 0.642000 3 22 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364265 10364265 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:10364265G>A ENST00000377093.4 + 21 3175 c.3022G>A c.(3022-3024)Ggg>Agg p.G1008R KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CCAAGAAAAAGGGGGTAAAGG 0.413000 7 151 0 0 1 0 0 NUDT19 390916 broad.mit.edu 37 19 33183247 33183247 + Silent SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:33183247C>T ENST00000397061.3 + 1 381 c.381C>T c.(379-381)tgC>tgT p.C127C NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 127 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) TCCGCATCTGCGCCGTGCGGG 0.701000 3 19 0 0 1 0 0 C10orf10 11067 broad.mit.edu 37 10 45473237 45473237 + Missense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr10:45473237G>T ENST00000298295.3 - 2 459 c.242C>A c.(241-243)tCc>tAc p.S81Y C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Intron NM_007021.3 NP_008952.1 Q9NTK1 DEPP_HUMAN chromosome 10 open reading frame 10 81 mitochondrion lung(1) 1 GTCTCGCAGGGACACAGCAGG 0.672000 10 66 1.33987e-11 1.68141e-11 1 1 0 CLK1 1195 broad.mit.edu 37 2 201724917 201724917 + Missense_Mutation SNP T T C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:201724917T>C ENST00000434813.2 - 4 872 c.538A>G c.(538-540)Acc>Gcc p.T180A CLK1_ENST00000321356.4_Missense_Mutation_p.T138A NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 138 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 ACACTCCTGGTTCTTTTCCTT 0.438000 6 83 0 0 1 0 0 SNPH 9751 broad.mit.edu 37 20 1281299 1281299 + Silent SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr20:1281299G>T ENST00000381867.1 + 6 1026 c.384G>T c.(382-384)gtG>gtT p.V128V SNPH_ENST00000381873.3_Silent_p.V84V O15079 SNPH_HUMAN syntaphilin 84 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AGAAGGAGGTGTGCATCCGGC 0.652000 7 36 2.0095e-06 2.38163e-06 1 1 0 SLC39A10 57181 broad.mit.edu 37 2 196545261 196545261 + Silent SNP A A G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:196545261A>G ENST00000409086.3 + 2 770 c.495A>G c.(493-495)aaA>aaG p.K165K SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 165 His-rich. zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TGTCTGTAAAATCTGATGATA 0.348000 14 89 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696450 47696450 + Missense_Mutation SNP A A T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr17:47696450A>T ENST00000393331.3 - 7 843 c.373T>A c.(373-375)Ttt>Att p.F125I SPOP_ENST00000393328.2_Missense_Mutation_p.F125I|SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 125 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F125V(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CCTTGCACAAACCTATATGCC 0.433000 Prostate(2;0.17) 46 88 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24791911 24791911 + Silent SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr14:24791911G>A ENST00000310677.4 - 20 2459 c.2346C>T c.(2344-2346)ccC>ccT p.P782P ADCY4_ENST00000418030.2_Silent_p.P782P|ADCY4_ENST00000554068.2_Silent_p.P782P NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 782 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TCAGCACTCCGGGCCTGAAGG 0.602000 11 16 0 0 1 0 0 ZMYND12 84217 broad.mit.edu 37 1 42915623 42915623 + Missense_Mutation SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:42915623C>T ENST00000372565.3 - 2 487 c.218G>A c.(217-219)cGg>cAg p.R73Q ZMYND12_ENST00000433602.2_Silent_p.T20T NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 73 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCATGCTGCCGTTCTTCCTC 0.547000 13 86 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38097623 38097623 + Silent SNP A A G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr4:38097623A>G ENST00000261439.4 + 14 2665 c.2310A>G c.(2308-2310)gtA>gtG p.V770V TBC1D1_ENST00000508802.1_Silent_p.V864V NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 770 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TTAAAGAAGTAACTACAGTGT 0.413000 6 116 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78466000 78466000 + Missense_Mutation SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr15:78466000C>A ENST00000258873.4 - 13 2229 c.2024G>T c.(2023-2025)cGg>cTg p.R675L ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433L|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433L NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 675 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GTGGTAGGGCCGGGCCGCCGC 0.562000 11 47 1.58986e-06 1.91984e-06 1 1 0 OR8B2 26595 broad.mit.edu 37 11 124253093 124253093 + Silent SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:124253093G>A ENST00000375013.2 - 1 165 c.147C>T c.(145-147)ttC>ttT p.F49F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATTTAGACCGAAAAGAGTGA 0.423000 4 164 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112605385 112605385 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:112605385G>A ENST00000341068.3 - 15 2480 c.1708C>T c.(1708-1710)Ctc>Ttc p.L570F NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 570 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TCATTATAGAGAGAATCATGA 0.363000 8 168 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283271 5283271 + Nonsense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr20:5283271G>T ENST00000546004.1 - 3 816 c.570C>A c.(568-570)taC>taA p.Y190* PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190* Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 190 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CTGTTGCAAAGTAAGCCGATG 0.498000 HNSCC(71;0.22) 6 123 3.59834e-05 4.18715e-05 1 1 0 OMA1 115209 broad.mit.edu 37 1 59004846 59004846 + Missense_Mutation SNP C C G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:59004846C>G ENST00000371226.3 - 2 234 c.121G>C c.(121-123)Gta>Cta p.V41L DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 41 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TTAACTTGTACTTGATGACAG 0.393000 13 149 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99007742 99007742 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr12:99007742G>A ENST00000342502.2 - 3 1085 c.674C>T c.(673-675)aCa>aTa p.T225I IKBIP_ENST00000420861.1_Missense_Mutation_p.T119I|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 225 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 GAGCGTTGCTGTTCGATCAAT 0.338000 26 63 0 0 1 0 0 TAF1D 79101 broad.mit.edu 37 11 93471313 93471313 + Nonsense_Mutation SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:93471313C>A ENST00000448108.2 - 3 1071 c.421G>T c.(421-423)Gaa>Taa p.E141* NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 GCGTTTTTTTCATTCTCTGAT 0.358000 20 97 3.62473e-10 4.46121e-10 1 1 0 OR8B3 390271 broad.mit.edu 37 11 124267101 124267101 + Silent SNP G G A rs140121900 byFrequency TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:124267101G>A ENST00000354597.3 - 1 163 c.147C>T c.(145-147)ttC>ttT p.F49F NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATTTAGACCGAAAAGAATGA 0.418000 14 121 0 0 1 0 0 ESRRA 2101 broad.mit.edu 37 11 64081763 64081763 + Silent SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:64081763G>A ENST00000405666.1 + 4 729 c.495G>A c.(493-495)ccG>ccA p.P165P ESRRA_ENST00000406310.1_Silent_p.P165P|ESRRA_ENST00000000442.6_Silent_p.P165P P11474 ERR1_HUMAN estrogen-related receptor alpha 165 positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 AGCGGCGGCCGGAGGTGGACC 0.682000 3 10 0 0 1 0 0 ZNF326 284695 broad.mit.edu 37 1 90475763 90475764 + Frame_Shift_Ins INS - - T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:90475763_90475764insT ENST00000340281.4 + 6 875_876 c.732_733insT c.(730-735)ccttaafs p.*245fs ZNF326_ENST00000455342.2_Frame_Shift_Ins_p.*39fs|ZNF326_ENST00000370447.2_Frame_Shift_Ins_p.*156fs NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TGATGCAGCCATTTAATAAGCC 0.386 28 67 --- --- --- --- ANTXR1 84168 broad.mit.edu 37 2 69472510 69472511 + Frame_Shift_Ins INS - - C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:69472510_69472511insC ENST00000303714.4 + 18 1910_1911 c.1588_1589insC c.(1588-1590)cccfs p.P530fs NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 530 Pro-rich. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 cagcgcccctacccctcccatc 0.708 Familial Infantile Hemangioma 2 4 --- --- --- --- NXPH2 11249 broad.mit.edu 37 2 139429025 139429027 + In_Frame_Del DEL TGA TGA - TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:139429025_139429027delTGA ENST00000272641.3 - 2 366_368 c.260_262delTCA c.(259-264)acg>a p.IT87del NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 87 II. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) TGAATCTCCGTGATGTTGGCCAG 0.488 21 55 --- --- --- --- WNT6 7475 broad.mit.edu 37 2 219724790 219724792 + In_Frame_Del DEL GCT GCT - TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:219724790_219724792delGCT ENST00000233948.3 + 1 247_249 c.30_32delGCT c.(28-33)ggg>gg p.GL10del WNT6_ENST00000486233.1_3'UTR NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 10 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.L17delL(1) large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCGCCTCGGGCTGCTGCTGCTG 0.773 2 4 --- --- --- --- IRS2 8660 broad.mit.edu 37 13 110435612 110435613 + Frame_Shift_Ins INS - - G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr13:110435612_110435613insG ENST00000375856.3 - 1 3302_3303 c.2788_2789insC c.(2788-2790)cctfs p.P930fs NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 930 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity p.R930fs*61(1) kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CGGCGACAGGCGGGCCCCGGGC 0.738 2 4 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23299146 23299147 + RNA INS - - A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr15:23299146_23299147insA ENST00000560464.1 - 0 4510 TACATTCAAAGAAAAAAAAAAA 0.317 3 5 --- --- --- --- SBNO2 22904 broad.mit.edu 37 19 1149395 1149395 + Frame_Shift_Del DEL G G - TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:1149395delG ENST00000361757.3 - 3 377 c.140delC c.(139-141)cafs p.P47fs SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P47fs NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 47 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCAGGGTATGGCGGCAGCGA 0.617 2 4 --- --- --- ---