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 MUC16 94025 broad.mit.edu 37 19 9083324 9083324 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9083324C>T ENST00000397910.4 - 1 8694 c.8491G>A c.(8491-8493)Gaa>Aaa p.E2831K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2831 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTGATTTCAGACATGGCT 0.507000 8 8 0 0 0.006214 0 0 TMEM117 84216 broad.mit.edu 37 12 44238710 44238710 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:44238710C>T ENST00000536799.1 + 1 44 c.44C>T c.(43-45)tCt>tTt p.S15F TMEM117_ENST00000266534.3_Silent_p.L86L|TMEM117_ENST00000551577.1_Silent_p.L86L Q9H0C3 TM117_HUMAN transmembrane protein 117 0 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TGGCAAATTTCTGTTCCATCA 0.358000 30 63 0 0 0.002836 0 0 IL1R1 3554 broad.mit.edu 37 2 102793021 102793021 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:102793021A>T ENST00000410023.1 + 12 1830 c.1512A>T c.(1510-1512)aaA>aaT p.K504N IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409929.1_Missense_Mutation_p.K473N|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.K504N P14778 IL1R1_HUMAN interleukin 1 receptor, type I 504 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) AATCGATTAAATTCATTAAGC 0.428000 11 11 0 0 0.001368 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516324 138516324 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:138516324A>G ENST00000371763.1 - 5 703 c.450T>C c.(448-450)caT>caC p.H150H NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 150 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) GGCTCTTCACATGCACCAGGG 0.562000 4 18 0 0 0.000248 0 0 ZFP3 124961 broad.mit.edu 37 17 4995744 4995744 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:4995744G>A ENST00000318833.3 + 2 1281 c.945G>A c.(943-945)ggG>ggA p.G315G NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 ATGAATGTGGGAAGGGCTTCG 0.433000 9 10 0 0 0.006214 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58190532 58190532 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:58190532C>T ENST00000483681.1 - 6 978 c.397G>A c.(397-399)Gag>Aag p.E133K DNASE1L3_ENST00000486455.1_Missense_Mutation_p.E103K|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.E133K|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.E133K Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 133 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) ACAAAGGGCTCCCTGGAAAAC 0.522000 14 26 0 0 0.004007 0 0 PRF1 5551 broad.mit.edu 37 10 72358712 72358712 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:72358712C>T ENST00000441259.1 - 3 925 c.765G>A c.(763-765)gaG>gaA p.E255E PRF1_ENST00000373209.2_Silent_p.E255E NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 255 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCAGGCAGTCCTCCACCTCGT 0.617000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 10 22 0 0 0.000978 0 0 C10orf71 118461 broad.mit.edu 37 10 50531928 50531928 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:50531928C>T ENST00000374144.3 + 3 1626 c.1338C>T c.(1336-1338)ctC>ctT p.L446L C10orf71_ENST00000323868.4_Silent_p.L446L Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 446 endometrium(1) 1 TCAGTAAGCTCCTGACCCCCA 0.522000 18 25 0 0 0.006122 0 0 VARS 7407 broad.mit.edu 37 6 31746792 31746792 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31746792G>A ENST00000375663.3 - 29 4118 c.3678C>T c.(3676-3678)ggC>ggT p.G1226G NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1226 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) TGACAGGATAGCCCGAGGCAG 0.647000 56 532 0 0 0.003610 0 0 SLC36A1 206358 broad.mit.edu 37 5 150838456 150838456 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:150838456C>T ENST00000243389.3 + 2 326 c.103C>T c.(103-105)Ccg>Tcg p.P35S SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000520701.1_Missense_Mutation_p.P35S|SLC36A1_ENST00000429484.2_Missense_Mutation_p.P35S|SLC36A1_ENST00000521925.1_Missense_Mutation_p.P35S NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 35 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CCTCTCCTCCCCGGGCTCCTA 0.577000 25 62 0 0 0.005443 0 0 HECTD3 79654 broad.mit.edu 37 1 45476265 45476265 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:45476265G>A ENST00000372172.4 - 2 554 c.483C>T c.(481-483)ctC>ctT p.L161L NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 161 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) GCTGCCGCTGGAGGTGGTTGG 0.692000 9 24 0 0 0.004482 0 0 ANK3 288 broad.mit.edu 37 10 61829952 61829952 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:61829952C>T ENST00000280772.1 - 37 10878 c.10687G>A c.(10687-10689)Gaa>Aaa p.E3563K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3563 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGCTTAGTTTCATCTTCCCGT 0.468000 26 23 0 0 0.001512 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959676 117959676 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:117959676C>T ENST00000310164.2 + 4 976 c.469C>T c.(469-471)Cag>Tag p.Q157* NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 ggtgcagctccagaacgctat 0.502000 50 7 0 0 0.003610 0 0 DNAH11 8701 broad.mit.edu 37 7 21737789 21737789 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:21737789C>T ENST00000328843.6 + 37 6190 c.6159C>T c.(6157-6159)ttC>ttT p.F2053F DNAH11_ENST00000409508.3_Silent_p.F2046F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2053 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCCGAAAGTTCATTACGTTGT 0.433000 Kartagener syndrome 16 48 0 0 0.004990 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284803 52284803 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52284803C>T ENST00000301190.6 + 5 1300 c.1073C>T c.(1072-1074)tCc>tTc p.S358F ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Intron NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 234 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GTTCCCCAGTCCCCGCCAGGG 0.642000 9 23 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179399168 179399168 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179399168C>T ENST00000589042.1 - 358 102398 c.102174G>A c.(102172-102174)agG>agA p.R34058R TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Silent_p.R25118R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.R25185R|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Silent_p.R32417R|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Silent_p.R24993R|TTN_ENST00000342992.6_Silent_p.R31490R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32417 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R25118R(1)|p.R25185R(1)|p.R31490R(1)|p.R24993R(1)|p.R31488R(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCGAGATTTCCTCTCTTTCA 0.413000 36 51 0 0 0.004878 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442625 25442625 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:25442625C>T ENST00000424208.1 + 0 1601 SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 AAGCTCAGGCCCTTCCTGATG 0.602000 11 10 0 0 0.000673 0 0 DSCAML1 57453 broad.mit.edu 37 11 117329477 117329477 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:117329477C>T ENST00000321322.6 - 19 3742 c.3741G>A c.(3739-3741)aaG>aaA p.K1247K DSCAML1_ENST00000527706.1_Silent_p.K977K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1187 Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCGTCCTCCTTGGTCTGGA 0.647000 7 7 0 0 0.003080 0 0 CDX1 1044 broad.mit.edu 37 5 149563178 149563178 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:149563178C>T ENST00000231656.8 + 3 815 c.733C>T c.(733-735)Ccc>Tcc p.P245S NM_001804.2 NP_001795.2 P47902 CDX1_HUMAN caudal type homeobox 1 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGCCTGTGTCCCAGCAACAC 0.657000 15 19 0 0 0.001523 0 0 REG1P 5969 broad.mit.edu 37 2 79363152 79363152 + RNA SNP C C T rs75820374 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:79363152C>T ENST00000444841.1 - 0 1186 ATCCAATGTCCCAGGATTTGT 0.522000 4 12 0 0 0.000602 0 0 IFNLR1 163702 broad.mit.edu 37 1 24484157 24484157 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:24484157G>A ENST00000327535.1 - 7 1038 c.1026C>T c.(1024-1026)ccC>ccT p.P342P IFNLR1_ENST00000374421.3_Silent_p.P313P|IFNLR1_ENST00000327575.2_3'UTR NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 GTTCAATGTAGGGCTGGAAGC 0.617000 32 59 0 0 0.001786 0 0 CBLN2 147381 broad.mit.edu 37 18 70205894 70205894 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:70205894G>A ENST00000269503.4 - 4 1244 c.471C>T c.(469-471)acC>acT p.T157T CBLN2_ENST00000585159.1_Silent_p.T157T|CBLN2_ENST00000581073.1_Silent_p.T43T|CBLN2_ENST00000584764.1_Silent_p.T41T|CBLN2_ENST00000583651.1_5'UTR NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 157 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) CCACCTGGATGGTTTGTCTGT 0.453000 16 36 0 0 0.007413 0 0 GRM7 2917 broad.mit.edu 37 3 7456764 7456764 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:7456764G>A ENST00000486284.1 + 5 1362 c.1088G>A c.(1087-1089)tGg>tAg p.W363* GRM7_ENST00000357716.4_Nonsense_Mutation_p.W363*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.W363*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.W363*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.W363* NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 363 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AGAAATGTATGGTTTGCCGAA 0.413000 11 23 0 0 0.001368 0 0 BAGE2 85319 broad.mit.edu 37 21 11098827 11098827 + RNA SNP C C T rs79274499 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:11098827C>T ENST00000470054.1 - 0 98 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccatccagagcgagacgagcc 0.637000 5 12 0 0 0.000602 0 0 GALNT15 117248 broad.mit.edu 37 3 16252704 16252704 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:16252704C>T ENST00000339732.5 + 5 1656 c.1153C>T c.(1153-1155)Ctt>Ttt p.L385F GALNT15_ENST00000437509.1_Missense_Mutation_p.L385F NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GTATGACTCTCTTATGTCGCT 0.542000 21 61 0 0 0.002780 0 0 ATP5A1 498 broad.mit.edu 37 18 43667373 43667373 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:43667373G>A ENST00000593152.2 - 7 1274 c.735C>T c.(733-735)tcC>tcT p.S245S ATP5A1_ENST00000590665.1_Silent_p.S273S|ATP5A1_ENST00000398752.6_Silent_p.S295S|ATP5A1_ENST00000282050.2_Silent_p.S295S NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 295 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 ACTCTCCCATGGAACAGCCAG 0.418000 28 19 0 0 0.002445 0 0 DKK1 22943 broad.mit.edu 37 10 54074346 54074346 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:54074346G>A ENST00000373970.3 + 1 291 c.152G>A c.(151-153)gGc>gAc p.G51D NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 51 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 CCGCTGGGCGGCGCTGCGGGG 0.657000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 26 0 0 0.002450 0 0 RNF181 51255 broad.mit.edu 37 2 85824049 85824049 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:85824049A>C ENST00000441634.1 + 3 361 c.322A>C c.(322-324)Agc>Cgc p.S108R RNF181_ENST00000306368.4_Missense_Mutation_p.S108R Q9P0P0 RN181_HUMAN ring finger protein 181 108 ligase activity|zinc ion binding lung(1)|stomach(1) 2 GCCCTGGCTAAGCAAGGTACT 0.527000 32 66 0 0 0.001512 0 0 DDX3X 1654 broad.mit.edu 37 X 41204721 41204721 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:41204721C>T ENST00000399959.2 + 12 2090 c.1235C>T c.(1234-1236)tCt>tTt p.S412F DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.S396F NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 412 Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding p.S412F(2) NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GGCTCTACCTCTGAAAACATC 0.353000 HNSCC(61;0.18) 24 4 0 0 0.005443 0 0 ETV7 51513 broad.mit.edu 37 6 36334473 36334473 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:36334473C>T ENST00000373738.1 - 7 1655 c.810G>A c.(808-810)caG>caA p.Q270Q ETV7_ENST00000339796.5_Intron|ETV7_ENST00000538992.1_Silent_p.Q174Q|ETV7_ENST00000373737.4_Silent_p.Q248Q|ETV7_ENST00000340181.4_Silent_p.Q325Q NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 325 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 TGTCCTGCTCCTGGCTCTCCA 0.572000 22 129 0 0 0.002780 0 0 HARBI1 283254 broad.mit.edu 37 11 46637407 46637407 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:46637407G>A ENST00000326737.3 - 2 628 c.381C>T c.(379-381)tcC>tcT p.S127S NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 127 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 GAGCCTGAATGGAGGCTTCAT 0.517000 48 84 0 0 0.003610 0 0 CUL9 23113 broad.mit.edu 37 6 43154031 43154031 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43154031C>T ENST00000252050.4 + 4 1173 c.1089C>T c.(1087-1089)ttC>ttT p.F363F CUL9_ENST00000354495.3_Silent_p.F363F|CUL9_ENST00000372647.2_Silent_p.F363F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 363 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGTGGGTCTTCCGCCAGCGCT 0.577000 17 138 0 0 0.001523 0 0 IGSF9 57549 broad.mit.edu 37 1 159904006 159904006 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159904006C>T ENST00000368094.1 - 9 1275 c.1078G>A c.(1078-1080)Gat>Aat p.D360N IGSF9_ENST00000361509.3_Missense_Mutation_p.D344N NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 360 Ig-like 4. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCTTTCCATCCTTGGTCCAG 0.612000 22 10 0 0 0.007291 0 0 LRRC7 57554 broad.mit.edu 37 1 70460305 70460305 + Silent SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:70460305T>C ENST00000310961.5 + 12 1312 c.894T>C c.(892-894)aaT>aaC p.N298N LRRC7_ENST00000035383.5_Silent_p.N293N|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 293 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGCTACCCAATACAATTGGAA 0.328000 37 77 0 0 0.006999 0 0 OR2T27 403239 broad.mit.edu 37 1 248814064 248814064 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:248814064C>T ENST00000344889.3 - 1 121 c.122G>A c.(121-123)aGc>aAc p.S41N NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GACCACGTTGCTGGCTATGGA 0.522000 12 57 0 0 0.003163 0 0 GPR149 344758 broad.mit.edu 37 3 154055952 154055952 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:154055952C>T ENST00000389740.2 - 4 1831 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 578 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTGCCCTTCTGCGCTTACC 0.448000 52 113 0 0 0.003610 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887778 9887778 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:9887778C>T ENST00000306084.6 + 2 1501 c.1302C>T c.(1300-1302)atC>atT p.I434I TXNDC2_ENST00000357775.4_Silent_p.I367I|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 434 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AGGGTGACATCCTAAAGCCTG 0.547000 9 40 0 0 0.004482 0 0 MUC7 4589 broad.mit.edu 37 4 71347507 71347507 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:71347507C>T ENST00000413702.1 + 4 1334 c.1046C>T c.(1045-1047)tCa>tTa p.S349L MUC7_ENST00000304887.5_Missense_Mutation_p.S349L|MUC7_ENST00000456088.1_Missense_Mutation_p.S349L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 349 extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CAACCAACTTCAGCTCCTGGC 0.378000 31 42 0 0 0.001786 0 0 ASMT 438 broad.mit.edu 37 X 1761794 1761794 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:1761794G>A ENST00000381241.3 + 9 1208 c.1009G>A c.(1009-1011)Ggg>Agg p.G337R ASMT_ENST00000381229.4_Missense_Mutation_p.G309R|ASMT_ENST00000381233.3_Missense_Mutation_p.G262R NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 309 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGACGGAAGGGCAGGAGAG 0.517000 25 117 0 0 0.003954 0 0 HMCN1 83872 broad.mit.edu 37 1 186088383 186088383 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:186088383G>A ENST00000271588.4 + 78 12138 c.11909G>A c.(11908-11910)aGg>aAg p.R3970K HMCN1_ENST00000367492.2_Missense_Mutation_p.R3970K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3970 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTGTCGCTAGGAATGCGGCT 0.408000 35 165 0 0 0.002222 0 0 SPAG17 200162 broad.mit.edu 37 1 118514651 118514651 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:118514651C>T ENST00000336338.5 - 45 6226 c.6161G>A c.(6160-6162)gGa>gAa p.G2054E SPAG17_ENST00000492438.1_5'UTR NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2054 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTTCACTTTTCCTCCAACAGA 0.373000 15 37 0 0 0.004007 0 0 FOLH1 2346 broad.mit.edu 37 11 49229944 49229944 + Translation_Start_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:49229944G>A ENST00000340334.7 - 0 244 FOLH1_ENST00000343844.4_De_novo_Start_InFrame|FOLH1_ENST00000256999.2_Silent_p.H6H|FOLH1_ENST00000356696.3_Silent_p.H6H NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AGTCGGTTTCGTGAAGGAGAT 0.711000 5 9 0 0 0.004482 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54107577 54107577 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:54107577G>A ENST00000548263.1 - 13 1747 c.1699C>T c.(1699-1701)Cct>Tct p.P567S CALCOCO1_ENST00000550804.1_Missense_Mutation_p.P567S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P567S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P482S Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 567 C-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 GCCTCTCGAGGCCCAGCAGGA 0.612000 33 56 0 0 0.003755 0 0 IGSF11 152404 broad.mit.edu 37 3 118621455 118621455 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:118621455G>A ENST00000354673.2 - 9 1585 c.1205C>T c.(1204-1206)tCc>tTc p.S402F IGSF11_ENST00000393775.2_Missense_Mutation_p.S403F|IGSF11_ENST00000489689.1_Missense_Mutation_p.S379F|IGSF11_ENST00000425327.2_Missense_Mutation_p.S402F|IGSF11_ENST00000441144.2_Missense_Mutation_p.S378F|IGSF11_ENST00000491903.1_Missense_Mutation_p.S375F NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 403 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GATGGTGTAGGAATGAGTGTG 0.547000 23 62 0 0 0.002299 0 0 LAMC2 3918 broad.mit.edu 37 1 183206618 183206618 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:183206618G>A ENST00000264144.4 + 18 2798 c.2733G>A c.(2731-2733)caG>caA p.Q911Q LAMC2_ENST00000493293.1_Silent_p.Q911Q NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 911 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AGCTCTTACAGAATGGAAAAA 0.393000 41 18 0 0 0.002222 0 0 COL16A1 1307 broad.mit.edu 37 1 32133812 32133812 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:32133812G>A ENST00000373672.3 - 51 3773 c.3257C>T c.(3256-3258)cCa>cTa p.P1086L COL16A1_ENST00000271069.6_Missense_Mutation_p.P1086L NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1086 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TGGTTGCCCTGGAGGACCCTG 0.602000 17 38 0 0 0.002299 0 0 COL2A1 1280 broad.mit.edu 37 12 48380960 48380960 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:48380960C>T ENST00000380518.3 - 21 1431 c.e21-1 COL2A1_ENST00000493991.1_Splice_Site|COL2A1_ENST00000337299.6_Splice_Site NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAGGAGCACCCTGTGGGCATG 0.647000 24 55 0 0 0.002780 0 0 SPERT 220082 broad.mit.edu 37 13 46287346 46287346 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:46287346C>T ENST00000378966.3 + 2 494 c.78C>T c.(76-78)ctC>ctT p.L26L SPERT_ENST00000310521.1_Silent_p.L62L Q8NA61 SPERT_HUMAN spermatid associated 62 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) TCCCGAGGCTCCACAACTTGT 0.647000 10 8 0 0 0.000978 0 0 CDS1 1040 broad.mit.edu 37 4 85525463 85525463 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:85525463C>T ENST00000295887.5 + 2 608 c.185C>T c.(184-186)cCa>cTa p.P62L NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 62 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) CCGGAAATTCCACCATCCTCA 0.343000 23 29 0 0 0.003330 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64132833 64132833 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:64132833C>T ENST00000528057.1 + 9 1055 c.967C>T c.(967-969)Cgc>Tgc p.R323C RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R323C|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R323C NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 323 AGC-kinase C-terminal. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 GCCCCAAATCCGCTCAGAGCT 0.622000 15 23 0 0 0.003163 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140185 3140185 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:3140185G>A ENST00000252463.2 - 5 1172 c.1085C>T c.(1084-1086)tCg>tTg p.S362L ZSCAN10_ENST00000538082.2_Missense_Mutation_p.S280L|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.S23L NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 362 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GCTCAGGTGCGAGCTCTGGCG 0.692000 19 34 0 0 0.001523 0 0 CLEC10A 10462 broad.mit.edu 37 17 6979005 6979005 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:6979005C>T ENST00000576617.1 - 7 908 c.639G>A c.(637-639)agG>agA p.R213R CLEC10A_ENST00000416562.2_Intron|CLEC10A_ENST00000254868.4_Intron|CLEC10A_ENST00000571664.1_Intron Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 0 C-type lectin. endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 gaaccattTCCCTAAATGGGA 0.512000 19 15 0 0 0.006122 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884064 228884064 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:228884064A>G ENST00000392056.3 - 7 1552 c.1506T>C c.(1504-1506)tgT>tgC p.C502C SPHKAP_ENST00000344657.5_Silent_p.C502C NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 502 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CAGTGGCTGCACAAGCTAACG 0.527000 8 10 0 0 0.006214 0 0 POTEH 23784 broad.mit.edu 37 22 16267070 16267070 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:16267070C>T ENST00000343518.6 - 9 1430 c.1379G>A c.(1378-1380)gGa>gAa p.G460E NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 460 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 ATGAGTACTTCCGTGCTTCTT 0.358000 26 227 0 0 0.002445 0 0 SCAND3 114821 broad.mit.edu 37 6 28543816 28543816 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:28543816C>T ENST00000452236.2 - 3 1283 c.666G>A c.(664-666)atG>atA p.M222I SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 222 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ACTTTTCTCTCATGTTTTCTG 0.348000 21 108 0 0 0.001882 0 0 PHACTR1 221692 broad.mit.edu 37 6 12933957 12933957 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:12933957G>A ENST00000379348.2 + 4 520 c.343G>A c.(343-345)Gaa>Aaa p.E115K PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 0 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GTGTTCCCTGGAAAACCACGG 0.537000 29 101 0 0 0.006320 0 0 ABCB5 340273 broad.mit.edu 37 7 20682906 20682906 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:20682906G>A ENST00000404938.2 + 6 1066 c.414G>A c.(412-414)agG>agA p.R138R NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 322 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGACCAAGAGGATTCGAAAAC 0.428000 13 25 0 0 0.001855 0 0 CCBE1 147372 broad.mit.edu 37 18 57103244 57103244 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:57103244C>T ENST00000439986.4 - 11 1154 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K CCBE1_ENST00000398179.2_Missense_Mutation_p.E102K NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 373 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CTGGGAAATTCCTGAGGTAAA 0.532000 50 68 0 0 0.003610 0 0 MPEG1 219972 broad.mit.edu 37 11 58978379 58978379 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:58978379C>T ENST00000361050.3 - 1 2045 c.1960G>A c.(1960-1962)Gga>Aga p.G654R NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 654 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GCAGCCCCTCCTGACAGACCA 0.567000 37 72 0 0 0.001951 0 0 SLC9C1 285335 broad.mit.edu 37 3 111918168 111918168 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:111918168C>T ENST00000305815.5 - 20 2775 c.2523_splice c.e20+1 p.K841_splice SLC9C1_ENST00000487372.1_Splice_Site_p.K793_splice NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 841 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TTTGCCTTACCTTATTAATTC 0.308000 12 68 0 0 0.001855 0 0 BAG6 7917 broad.mit.edu 37 6 31617103 31617103 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31617103G>T ENST00000404765.2 - 4 585 c.296C>A c.(295-297)tCt>tAt p.S99Y BAG6_ENST00000211379.5_Missense_Mutation_p.S99Y|BAG6_ENST00000362049.6_Missense_Mutation_p.S99Y|BAG6_ENST00000439687.2_Missense_Mutation_p.S99Y|BAG6_ENST00000375976.4_Missense_Mutation_p.S99Y|BAG6_ENST00000375964.6_Missense_Mutation_p.S99Y P46379 BAG6_HUMAN BCL2-associated athanogene 6 99 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CGTCCCAGAAGATGCCCCAGA 0.577000 58 988 1.83081e-24 3.135e-24 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179649020 179649020 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179649020G>A ENST00000589042.1 - 16 2776 c.2552C>T c.(2551-2553)tCt>tTt p.S851F TTN_ENST00000359218.5_Missense_Mutation_p.S805F|TTN_ENST00000342175.6_Missense_Mutation_p.S805F|TTN_ENST00000591111.1_Missense_Mutation_p.S851F|TTN_ENST00000460472.2_Missense_Mutation_p.S805F|TTN_ENST00000342992.6_Missense_Mutation_p.S851F|TTN_ENST00000360870.5_Missense_Mutation_p.S851F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 851 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTGAGCAGAAGATGTGGC 0.473000 13 24 0 0 0.001368 0 0 CACNA1A 773 broad.mit.edu 37 19 13443705 13443705 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:13443705C>T ENST00000360228.5 - 9 1232 c.1233G>A c.(1231-1233)ggG>ggA p.G411G CACNA1A_ENST00000573710.2_Silent_p.G411G NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 411 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCCTCTGCTCCCCGTCAGTTT 0.567000 8 16 0 0 0.006214 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2883636 2883636 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:2883636C>T ENST00000254695.8 + 9 742 c.652C>T c.(652-654)Ccc>Tcc p.P218S RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P218S|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P203S|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P199S NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 218 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GAGCAAGCTTCCCAGTGTCCC 0.547000 11 21 0 0 0.001855 0 0 PPP1R26 9858 broad.mit.edu 37 9 138379983 138379983 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:138379983C>T ENST00000356818.2 + 4 4176 c.3627C>T c.(3625-3627)gtC>gtT p.V1209V PPP1R26_ENST00000401470.3_Silent_p.V1209V|PPP1R26_ENST00000605660.1_Silent_p.V1209V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.V1209V|PPP1R26_ENST00000604351.1_Silent_p.V1209V NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 1209 nucleolus protein binding TAGTGAAGGTCTAAGCCCTCG 0.617000 23 4 0 0 0.002780 0 0 KRT37 8688 broad.mit.edu 37 17 39580567 39580567 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:39580567G>A ENST00000225550.3 - 1 208 c.209C>T c.(208-210)cCc>cTc p.P70L AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 70 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) ACTGGTTGGGGGCAGACAGAG 0.622000 12 33 0 0 0.003163 0 0 SLC26A6 65010 broad.mit.edu 37 3 48669454 48669454 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:48669454G>A ENST00000455886.2 - 5 552 c.505C>T c.(505-507)Cgg>Tgg p.R169W SLC26A6_ENST00000358747.6_Silent_p.F182F|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Silent_p.F203F|SLC26A6_ENST00000420764.2_Silent_p.F203F|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000395550.2_Silent_p.F203F solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CCACGAAGCCGAAGTGGATCA 0.612000 10 57 0 0 0.001368 0 0 ZNF558 148156 broad.mit.edu 37 19 8931904 8931904 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:8931904G>A ENST00000601372.1 - 7 910 c.199C>T c.(199-201)Ctg>Ttg p.L67L ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000301475.1_Silent_p.L67L Q96NG5 ZN558_HUMAN zinc finger protein 558 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TCCCTGTACAGTGTCCTTTGG 0.517000 20 19 0 0 0.001216 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043684 77043684 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:77043684G>A ENST00000339142.2 + 5 915 c.360G>A c.(358-360)ggG>ggA p.G120G C1QTNF1_ENST00000580474.1_Silent_p.G120G|C1QTNF1_ENST00000578229.1_Silent_p.G38G|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Silent_p.G120G|C1QTNF1_ENST00000581774.1_Silent_p.G120G|C1QTNF1_ENST00000580454.1_Silent_p.G120G|C1QTNF1_ENST00000311661.4_Silent_p.G38G|C1QTNF1_ENST00000579760.1_Silent_p.G120G|C1QTNF1_ENST00000354124.3_Silent_p.G130G|C1QTNF1_ENST00000392445.2_Silent_p.G120G NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 120 Collagen-like. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GCTCAGCAGGGGCCAGGGGCC 0.622000 56 37 0 0 0.003610 0 0 GPR61 83873 broad.mit.edu 37 1 110085662 110085662 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:110085662C>T ENST00000527748.1 + 2 701 c.18C>T c.(16-18)atC>atT p.I6I RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 6 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CCTCACCCATCCCCCAGTCAT 0.647000 11 15 0 0 0.000978 0 0 TAOK1 57551 broad.mit.edu 37 17 27816697 27816697 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:27816697C>T ENST00000261716.3 + 9 1190 c.671C>T c.(670-672)cCt>cTt p.P224L TAOK1_ENST00000536202.1_Missense_Mutation_p.P224L NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 224 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AGGAAGCCTCCTTTATTTAAT 0.348000 20 63 0 0 0.001523 0 0 DDHD1 80821 broad.mit.edu 37 14 53558541 53558541 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:53558541C>T ENST00000357758.3 - 4 1434 c.1251G>A c.(1249-1251)caG>caA p.Q417Q DDHD1_ENST00000395606.1_Silent_p.Q424Q|DDHD1_ENST00000323669.5_Silent_p.Q417Q NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 417 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GGTCCATTTTCTGCCCAATGC 0.373000 27 42 0 0 0.002096 0 0 PLA2R1 22925 broad.mit.edu 37 2 160833917 160833917 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:160833917G>A ENST00000283243.7 - 15 2485 c.2279C>T c.(2278-2280)tCg>tTg p.S760L PLA2R1_ENST00000392771.1_Missense_Mutation_p.S760L NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 760 C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTCTAAAAACGAAGAGACAAC 0.388000 14 23 0 0 0.001855 0 0 CARD11 84433 broad.mit.edu 37 7 2946340 2946340 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2946340G>A ENST00000396946.4 - 25 3800 c.3397C>T c.(3397-3399)Cgc>Tgc p.R1133C NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1133 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGACAACGCGGAGCAGCTCC 0.662000 Mis DLBCL 22 104 0 0 0.001882 0 0 CACNA1G 8913 broad.mit.edu 37 17 48683279 48683279 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:48683279C>T ENST00000352832.5 + 22 4620 c.4248C>T c.(4246-4248)ttC>ttT p.F1416F CACNA1G_ENST00000502264.1_Silent_p.F1416F|CACNA1G_ENST00000513964.1_Silent_p.F1439F|CACNA1G_ENST00000358244.5_Silent_p.F1416F|CACNA1G_ENST00000416767.4_Silent_p.F1439F|CACNA1G_ENST00000442258.2_Silent_p.F1416F|CACNA1G_ENST00000359106.5_Silent_p.F1439F|CACNA1G_ENST00000514181.1_Silent_p.F1439F|CACNA1G_ENST00000512389.1_Silent_p.F1439F|CACNA1G_ENST00000515165.1_Silent_p.F1439F|CACNA1G_ENST00000429973.2_Silent_p.F1439F|CACNA1G_ENST00000507336.1_Silent_p.F1439F|CACNA1G_ENST00000514079.1_Silent_p.F1439F|CACNA1G_ENST00000510115.1_Silent_p.F1416F|CACNA1G_ENST00000507609.1_Silent_p.F1439F|CACNA1G_ENST00000515411.1_Silent_p.F1439F|CACNA1G_ENST00000507510.2_Silent_p.F1439F|CACNA1G_ENST00000503485.1_Silent_p.F1439F|CACNA1G_ENST00000513689.2_Silent_p.F1439F|CACNA1G_ENST00000507896.1_Silent_p.F1439F|CACNA1G_ENST00000354983.4_Silent_p.F1416F|CACNA1G_ENST00000510366.1_Silent_p.F1439F|CACNA1G_ENST00000515765.1_Silent_p.F1439F|CACNA1G_ENST00000505165.1_Silent_p.F1439F|CACNA1G_ENST00000514717.1_Silent_p.F1416F|CACNA1G_ENST00000360761.4_Silent_p.F1416F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1439 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGAAGTTTTTCGTGTGCCAGG 0.552000 32 26 0 0 0.003755 0 0 GSDMC 56169 broad.mit.edu 37 8 130772813 130772813 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:130772813A>C ENST00000276708.4 - 6 1580 c.699T>G c.(697-699)gaT>gaG p.D233E NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 233 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 TTCTCTGTTCATCATCATCTG 0.373000 48 82 0 0 0.003610 0 0 KCNB1 3745 broad.mit.edu 37 20 47989959 47989959 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:47989959A>G ENST00000371741.4 - 2 2304 c.2138T>C c.(2137-2139)cTt>cCt p.L713P NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 713 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTTGTCCAAAAGCGTGGCACA 0.597000 17 41 0 0 0.004990 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156911701 156911701 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:156911701G>A ENST00000368194.3 - 34 4446 c.3407C>T c.(3406-3408)cCc>cTc p.P1136L ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P1096L|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P512L NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1096 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGACCTGGGGGTGGAGGATG 0.647000 21 54 0 0 0.003330 0 0 SPECC1L 23384 broad.mit.edu 37 22 24720332 24720332 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:24720332G>A ENST00000314328.9 + 6 2368 c.2083G>A c.(2083-2085)Gat>Aat p.D695N SPECC1L_ENST00000437398.1_Missense_Mutation_p.D695N|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.D695N|SPECC1L_ENST00000541492.1_Missense_Mutation_p.D695N NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 695 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TGAACTTGAAGATGAAGTAGA 0.328000 33 27 0 0 0.003755 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917849 65917849 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:65917849C>T ENST00000261892.6 + 2 1718 c.1431C>T c.(1429-1431)ttC>ttT p.F477F SLC24A1_ENST00000537259.1_Silent_p.F477F|SLC24A1_ENST00000546330.1_Silent_p.F477F|SLC24A1_ENST00000544319.2_Silent_p.F477F|SLC24A1_ENST00000399033.4_Silent_p.F477F|SLC24A1_ENST00000339868.6_Silent_p.F477F NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 477 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 ACGAGTACTTCGTTCCAGCCC 0.572000 41 40 0 0 0.007835 0 0 RAI2 10742 broad.mit.edu 37 X 17818801 17818801 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:17818801C>T ENST00000545871.1 - 3 1790 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K RAI2_ENST00000360011.1_Missense_Mutation_p.E444K|RAI2_ENST00000451717.1_Missense_Mutation_p.E444K|RAI2_ENST00000415486.3_Missense_Mutation_p.E394K|RAI2_ENST00000331511.1_Missense_Mutation_p.E444K NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 444 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACAGCATCTTCGACAGAGACA 0.537000 80 15 0 0 0.003610 0 0 SLC13A1 6561 broad.mit.edu 37 7 122821088 122821088 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:122821088G>A ENST00000194130.2 - 2 206 c.167C>T c.(166-168)tCg>tTg p.S56L SLC13A1_ENST00000539873.1_5'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 56 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) AGCTGTTACCGACAGAGGCAA 0.428000 16 30 0 0 0.003163 0 0 GLI1 2735 broad.mit.edu 37 12 57861832 57861832 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:57861832C>T ENST00000228682.2 + 10 1224 c.1133C>T c.(1132-1134)tCg>tTg p.S378L GLI1_ENST00000546141.1_Missense_Mutation_p.S337L|GLI1_ENST00000543426.1_Missense_Mutation_p.S250L NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 378 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GATCCTAGCTCGCTGCGAAAA 0.552000 8 34 0 0 0.006214 0 0 MICAL2 9645 broad.mit.edu 37 11 12270730 12270730 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:12270730G>A ENST00000256194.4 + 22 3072 c.e22-1 MICAL2_ENST00000379612.3_Splice_Site|MICAL2_ENST00000537344.1_Splice_Site|MICAL2_ENST00000527546.1_Splice_Site|MICAL2_ENST00000342902.5_Intron NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TCTTTCTAAAGGAAaagaagt 0.448000 11 30 0 0 0.001368 0 0 GSTP1 2950 broad.mit.edu 37 11 67353865 67353865 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:67353865C>T ENST00000398606.3 + 7 699 c.450C>T c.(448-450)tcC>tcT p.S150S GSTP1_ENST00000398603.1_Silent_p.S114S|GSTP1_ENST00000498765.1_3'UTR NM_000852.3 NP_000843.1 P09211 GSTP1_HUMAN glutathione S-transferase pi 1 150 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1) 9 Ethacrynic acid(DB00903)|Glutathione(DB00143) TGCAGATCTCCTTCGCTGACT 0.642000 15 57 0 0 0.004990 0 0 FAT4 79633 broad.mit.edu 37 4 126373044 126373044 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:126373044G>A ENST00000394329.3 + 9 10886 c.10873G>A c.(10873-10875)Ggt>Agt p.G3625S FAT4_ENST00000335110.5_Missense_Mutation_p.G1923S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3625 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAATTATTATGGTAACTTGTT 0.443000 16 30 0 0 0.004007 0 0 GPR133 283383 broad.mit.edu 37 12 131471650 131471650 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:131471650G>A ENST00000261654.5 + 6 1060 c.501G>A c.(499-501)tgG>tgA p.W167* GPR133_ENST00000535015.1_Nonsense_Mutation_p.W199* NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 167 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCCCCTATTGGACTCATGTCC 0.493000 15 35 0 0 0.003163 0 0 KIF1B 23095 broad.mit.edu 37 1 10412779 10412779 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:10412779C>T ENST00000377086.1 + 38 4242 c.4040C>T c.(4039-4041)tCc>tTc p.S1347F KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.S1301F|KIF1B_ENST00000377081.1_Missense_Mutation_p.S1347F O60333 KIF1B_HUMAN kinesin family member 1B 1347 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) CTGAAGTCTTCCCACAACTCT 0.458000 26 77 0 0 0.004656 0 0 IRX2 153572 broad.mit.edu 37 5 2749113 2749113 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:2749113C>T ENST00000382611.6 - 3 957 c.709G>A c.(709-711)Gac>Aac p.D237N IRX2_ENST00000302057.5_Missense_Mutation_p.D237N|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 237 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TTCTCCCCGTCCGACTCGGCC 0.692000 13 24 0 0 0.003163 0 0 IL6R 3570 broad.mit.edu 37 1 154403046 154403046 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:154403046C>T ENST00000368485.3 + 3 859 c.422C>T c.(421-423)tCc>tTc p.S141F IL6R_ENST00000344086.4_Missense_Mutation_p.S141F NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 141 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCACCCCATCCCTGACGACA 0.592000 29 17 0 0 0.007291 0 0 IGSF10 285313 broad.mit.edu 37 3 151163111 151163111 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:151163111G>A ENST00000282466.3 - 4 4657 c.4658C>T c.(4657-4659)cCa>cTa p.P1553L NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1553 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGTTAGTGCTGGCATGGGAGT 0.413000 46 100 0 0 0.002852 0 0 RBMY2EP 159125 broad.mit.edu 37 Y 23563366 23563366 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrY:23563366C>T ENST00000444169.1 - 0 82 NR_001574.2 GGGTTACCTTCTGATATGGGA 0.358000 9 0 0 0 0.006214 0 0 TLN1 7094 broad.mit.edu 37 9 35711666 35711666 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:35711666G>A ENST00000314888.9 - 29 4158 c.3805C>T c.(3805-3807)Cga>Tga p.R1269* TLN1_ENST00000540444.1_Nonsense_Mutation_p.R1269* NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1269 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCTGAGGCTCGAGCCAGGTCC 0.602000 47 114 0 0 0.003610 0 0 CXXC1 30827 broad.mit.edu 37 18 47813150 47813150 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:47813150A>G ENST00000285106.6 - 2 796 c.82T>C c.(82-84)Tac>Cac p.Y28H CXXC1_ENST00000589940.1_Missense_Mutation_p.Y28H|CXXC1_ENST00000412036.2_Missense_Mutation_p.Y28H|CXXC1_ENST00000587396.1_5'UTR NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 28 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CAGATGCAGTAGATGGGCGCA 0.627000 21 40 0 0 0.002299 0 0 NUP133 55746 broad.mit.edu 37 1 229623321 229623321 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:229623321A>C ENST00000261396.3 - 10 1325 c.1234T>G c.(1234-1236)Ttt>Gtt p.F412V NUP133_ENST00000366679.1_Missense_Mutation_p.F412V|NUP133_ENST00000537506.1_Missense_Mutation_p.F396V NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 412 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGGTTTGAAAAGTTTGGGACC 0.348000 89 41 0 0 0.003610 0 0 DHX8 1659 broad.mit.edu 37 17 41569586 41569586 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:41569586G>A ENST00000262415.3 + 5 501 c.429G>A c.(427-429)gtG>gtA p.V143V DHX8_ENST00000540306.1_Silent_p.V143V NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 143 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AAGTTGCTGTGGATGTCCTGA 0.473000 32 30 0 0 0.002836 0 0 MYOM1 8736 broad.mit.edu 37 18 3141961 3141961 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:3141961C>T ENST00000356443.4 - 14 2334 c.2001G>A c.(1999-2001)gaG>gaA p.E667E MYOM1_ENST00000261606.7_Silent_p.E667E|MYOM1_ENST00000400569.3_Silent_p.E667E NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 667 Fibronectin type-III 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACATAATGCCCTCATGACCAC 0.517000 36 88 0 0 0.006230 0 0 SPINK5 11005 broad.mit.edu 37 5 147470749 147470749 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:147470749C>T ENST00000359874.3 + 8 697 c.624C>T c.(622-624)gcC>gcT p.A208A SPINK5_ENST00000256084.7_Silent_p.A208A|SPINK5_ENST00000398454.1_Silent_p.A208A|SPINK5_ENST00000476608.1_3'UTR NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 208 Kazal-like 3. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAAAATGCCAAGCGAGAGG 0.348000 5 12 0 0 0.000602 0 0 RARS2 57038 broad.mit.edu 37 6 88227908 88227908 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:88227908G>A ENST00000369536.5 - 17 1535 c.1490C>T c.(1489-1491)tCa>tTa p.S497L NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 497 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) CTGAAGAATTGAAACAGACTG 0.383000 29 60 0 0 0.003271 0 0 WNK1 65125 broad.mit.edu 37 12 994852 994852 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:994852C>T ENST00000537687.1 + 19 6305 c.5662C>T c.(5662-5664)Ccc>Tcc p.P1888S WNK1_ENST00000535572.1_Missense_Mutation_p.P1381S|WNK1_ENST00000530271.2_Missense_Mutation_p.P2126S|WNK1_ENST00000340908.4_Missense_Mutation_p.P1221S|WNK1_ENST00000315939.6_Missense_Mutation_p.P1628S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1628 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AGCTTTGCTTCCCAACCAGCC 0.478000 24 51 0 0 0.003330 0 0 LRP5 4041 broad.mit.edu 37 11 68153959 68153959 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:68153959C>T ENST00000294304.7 + 6 1297 c.1191C>T c.(1189-1191)atC>atT p.I397I NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 397 Beta-propeller 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCGGGCCATCCGCAGGGCGT 0.637000 13 52 0 0 0.001855 0 0 RGS22 26166 broad.mit.edu 37 8 101083691 101083691 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:101083691G>A ENST00000360863.6 - 6 694 c.500C>T c.(499-501)cCc>cTc p.P167L RGS22_ENST00000523437.1_Missense_Mutation_p.P167L|RGS22_ENST00000523287.1_Intron NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 167 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CACGATCCAGGGAGAAAAATT 0.378000 21 110 0 0 0.002299 0 0 OR51S1 119692 broad.mit.edu 37 11 4869588 4869588 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:4869588G>A ENST00000322101.2 - 1 926 c.851C>T c.(850-852)tCc>tTc p.S284F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGACATAGGATAGAAGAGT 0.448000 22 40 0 0 0.003954 0 0 BCKDHA 593 broad.mit.edu 37 19 41925149 41925149 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:41925149G>A ENST00000269980.2 + 5 962 c.594G>A c.(592-594)aaG>aaA p.K198K BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Silent_p.K176K|CTC-435M10.3_ENST00000540732.1_Silent_p.K232K|BCKDHA_ENST00000595085.1_Silent_p.K232K NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 198 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 ACGGCTGCAAGGAACGCCACT 0.567000 8 9 0 0 0.003080 0 0 ZNF679 168417 broad.mit.edu 37 7 63720636 63720636 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:63720636C>T ENST00000421025.1 + 3 346 c.77C>T c.(76-78)tCt>tTt p.S26F ZNF679_ENST00000255746.4_Missense_Mutation_p.S26F NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATAGAATTCTCTCTGGAGGAG 0.418000 12 29 0 0 0.000978 0 0 EIF3B 8662 broad.mit.edu 37 7 2412393 2412393 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2412393C>T ENST00000360876.4 + 12 1829 c.1773C>T c.(1771-1773)ttC>ttT p.F591F EIF3B_ENST00000397011.2_Silent_p.F591F NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 591 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CTGTGTCTTTCTACCACGTCA 0.473000 6 134 0 0 0.001168 0 0 PRF1 5551 broad.mit.edu 37 10 72358711 72358711 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:72358711C>T ENST00000441259.1 - 3 926 c.766G>A c.(766-768)Gac>Aac p.D256N PRF1_ENST00000373209.2_Missense_Mutation_p.D256N NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 256 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GTCAGGCAGTCCTCCACCTCG 0.622000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 10 22 0 0 0.000978 0 0 EVA1C 59271 broad.mit.edu 37 21 33887342 33887342 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:33887342C>T ENST00000300255.2 + 8 1641 c.1168C>T c.(1168-1170)Ctg>Ttg p.L390L EVA1C_ENST00000382699.3_Silent_p.L387L|EVA1C_ENST00000401402.3_Silent_p.L342L|EVA1C_ENST00000485488.1_3'UTR NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) CCCAGGGGAACTGTCGGGGTT 0.532000 26 45 0 0 0.003954 0 0 CELF4 56853 broad.mit.edu 37 18 34846537 34846537 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:34846537G>A ENST00000420428.2 - 9 1519 c.1124C>T c.(1123-1125)cCc>cTc p.P375L CELF4_ENST00000412753.1_Missense_Mutation_p.P374L|CELF4_ENST00000601019.1_Missense_Mutation_p.P373L|CELF4_ENST00000361795.5_Missense_Mutation_p.P373L|CELF4_ENST00000334919.5_Missense_Mutation_p.P365L|CELF4_ENST00000591287.1_Missense_Mutation_p.P374L|CELF4_ENST00000591282.1_Missense_Mutation_p.P375L|CELF4_ENST00000603232.1_Missense_Mutation_p.P374L|CELF4_ENST00000588597.1_Missense_Mutation_p.P364L NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 375 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 CTGCTGCAGGGGGTCCGCGGC 0.647000 3 2 0 0 0.000248 0 0 BCMO1 53630 broad.mit.edu 37 16 81293407 81293407 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:81293407C>T ENST00000258168.2 + 3 781 c.320C>T c.(319-321)tCc>tTc p.S107F BCMO1_ENST00000564552.1_Missense_Mutation_p.S107F|BCMO1_ENST00000425577.2_Intron NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 107 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 AACATATTTTCCAAGTAACTG 0.408000 25 64 0 0 0.004656 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67322240 67322240 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:67322240C>T ENST00000360461.5 + 19 5926 c.3391C>T c.(3391-3393)Ccc>Tcc p.P1131S PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P1050S|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P1131S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P1131S NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1131 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TCCCCTGTATCCCAGCTTCCC 0.627000 25 56 0 0 0.003330 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839346 100839346 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:100839346G>A ENST00000223114.4 - 7 1073 c.907C>T c.(907-909)Ccc>Tcc p.P303S MOGAT3_ENST00000379423.3_Missense_Mutation_p.P235L|MOGAT3_ENST00000440203.2_Silent_p.T331T NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 303 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) TCCTCGGTGGGGTGGAGGCGC 0.667000 7 5 0 0 0.001984 0 0 AHNAK 79026 broad.mit.edu 37 11 62295771 62295771 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:62295771G>A ENST00000378024.4 - 5 6392 c.6118C>T c.(6118-6120)Cat>Tat p.H2040Y AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2040 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTGGGCCATGAACATCCACA 0.498000 111 171 0 0 0.003610 0 0 LRBA 987 broad.mit.edu 37 4 151749500 151749500 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:151749500G>A ENST00000535741.1 - 30 5476 c.5003C>T c.(5002-5004)cCg>cTg p.P1668L LRBA_ENST00000510413.1_Missense_Mutation_p.P1668L|LRBA_ENST00000507224.1_Missense_Mutation_p.P1668L|LRBA_ENST00000357115.3_Missense_Mutation_p.P1668L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1668 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TGAAACTGACGGTGTAGCCTT 0.433000 21 29 0 0 0.001882 0 0 RGPD4 285190 broad.mit.edu 37 2 108488640 108488640 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:108488640C>T ENST00000408999.3 + 20 4257 c.4180C>T c.(4180-4182)Cgt>Tgt p.R1394C RGPD4_ENST00000354986.4_Missense_Mutation_p.R1394C NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1394 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TAAGCAAGTTCGTATAGTGAT 0.358000 99 148 0 0 0.003610 0 0 OR5M11 219487 broad.mit.edu 37 11 56310479 56310479 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:56310479G>A ENST00000528616.2 - 1 278 c.255C>T c.(253-255)atC>atT p.I85I NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TCTCAGATACGATATTAGTCG 0.448000 28 359 0 0 0.005443 0 0 VSTM1 284415 broad.mit.edu 37 19 54545034 54545034 + Splice_Site SNP G G A rs148134957 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54545034G>A ENST00000338372.2 - 8 765 c.591_splice c.e8+1 p.S197_splice VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Splice_Site_p.S166_splice|VSTM1_ENST00000366170.2_Splice_Site_p.S109_splice NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 197 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AGGACTCACCGAGAGAGATAC 0.458000 7 26 0 0 0.003080 0 0 TRAV27 28655 broad.mit.edu 37 14 22616359 22616359 + RNA SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:22616359G>C ENST00000390457.2 + 0 197 CATCCAAGAGGGAGAAAATCT 0.507000 13 13 0 0 0.001855 0 0 NLRP12 91662 broad.mit.edu 37 19 54327292 54327292 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54327292C>T ENST00000324134.6 - 1 305 c.137G>A c.(136-138)gGa>gAa p.G46E NLRP12_ENST00000535162.1_Missense_Mutation_p.G46E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G46E|NLRP12_ENST00000391772.1_Missense_Mutation_p.G46E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G46E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G46E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G46E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G46E NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 46 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTCCATGCTTCCCCAGGGGAT 0.592000 17 79 0 0 0.004990 0 0 HRNR 388697 broad.mit.edu 37 1 152188255 152188255 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:152188255G>A ENST00000368801.2 - 3 5925 c.5850C>T c.(5848-5850)agC>agT p.S1950S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1950 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCGGCCACGGCTAGGGCTAG 0.607000 99 393 0 0 0.003610 0 0 KIAA1109 84162 broad.mit.edu 37 4 123118412 123118412 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:123118412T>A ENST00000264501.4 + 13 1644 c.1271T>A c.(1270-1272)aTg>aAg p.M424K KIAA1109_ENST00000455637.1_Missense_Mutation_p.M424K|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M424K Q2LD37 K1109_HUMAN KIAA1109 424 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AATATTCCAATGACAGTTGAA 0.244000 20 21 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179595861 179595861 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179595861A>C ENST00000589042.1 - 60 17755 c.17531T>G c.(17530-17532)gTt>gGt p.V5844G TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V5527G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V4600G|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5527 Ig-like 39. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAAAATTTAACCTGCAAAGT 0.438000 52 77 0 0 0.003610 0 0 OR10H4 126541 broad.mit.edu 37 19 16060708 16060708 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:16060708G>A ENST00000322107.1 + 1 891 c.891G>A c.(889-891)aaG>aaA p.K297K NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TAAGGAACAAGGAGCTGAAGA 0.433000 49 52 0 0 0.003610 0 0 MX2 4600 broad.mit.edu 37 21 42778893 42778893 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:42778893G>A ENST00000330714.3 + 13 2057 c.1873G>A c.(1873-1875)Gaa>Aaa p.E625K NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 625 GED. response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CTCCTTTACTGAAATAGGCAT 0.488000 17 23 0 0 0.007413 0 0 DENND1C 79958 broad.mit.edu 37 19 6468102 6468102 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:6468102C>T ENST00000381480.2 - 23 1931 c.1819G>A c.(1819-1821)Gat>Aat p.D607N DENND1C_ENST00000543576.1_Missense_Mutation_p.D563N NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 607 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 AGTTTCTTATCGTCTGGTTGC 0.542000 15 22 0 0 0.006122 0 0 CCR9 10803 broad.mit.edu 37 3 45943326 45943326 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:45943326G>A ENST00000357632.2 + 3 1226 c.1046G>A c.(1045-1047)aGa>aAa p.R349K CCR9_ENST00000355983.2_Missense_Mutation_p.R337K|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.R337K|LZTFL1_ENST00000539217.1_Intron NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 349 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) TTTACAAGGAGAGAGGGAAGC 0.512000 17 44 0 0 0.007413 0 0 ARID1A 8289 broad.mit.edu 37 1 27100165 27100165 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:27100165C>T ENST00000324856.7 + 16 4332 c.3961C>T c.(3961-3963)Cct>Tct p.P1321S ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1321S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P938S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1321 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GATGTATTCTCCTAGCCGCTA 0.607000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 22 43 0 0 0.002780 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011387 34011387 + Missense_Mutation SNP G G T rs149288077 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:34011387G>T ENST00000382499.2 - 31 3862 c.3863C>A c.(3862-3864)cCg>cAg p.P1288Q SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1202Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P1233Q|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1249Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1288Q NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1249 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AGAAGACTGCGGAGGAAAAGC 0.498000 27 81 6.07407e-21 1.03874e-20 0.007291 1 0 TTC39C 125488 broad.mit.edu 37 18 21703897 21703897 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:21703897C>T ENST00000540918.2 + 4 615 c.365C>T c.(364-366)tCg>tTg p.S122L TTC39C_ENST00000317571.3_Missense_Mutation_p.S429L|TTC39C_ENST00000304621.6_Missense_Mutation_p.S368L Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 429 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 GAACAGTTCTCGGTGAAAAAG 0.398000 8 7 0 0 0.004482 0 0 ABCA13 154664 broad.mit.edu 37 7 48317811 48317811 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:48317811G>A ENST00000435803.1 + 18 7044 c.7020G>A c.(7018-7020)atG>atA p.M2340I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2340 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATCACCTAATGAAAAGTTCAT 0.303000 10 16 0 0 0.000673 0 0 EEFSEC 60678 broad.mit.edu 37 3 128126937 128126937 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:128126937G>A ENST00000483457.1 + 5 1311 c.1304G>A c.(1303-1305)aGa>aAa p.R435K EEFSEC_ENST00000254730.6_Silent_p.K542K P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 0 A -> V (in dbSNP:rs34326479). cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 AGTCCAAGAAGATCCTGACAC 0.692000 7 14 0 0 0.003080 0 0 TRPS1 7227 broad.mit.edu 37 8 116426751 116426751 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:116426751T>A ENST00000395715.3 - 7 3962 c.3385A>T c.(3385-3387)Aaa>Taa p.K1129* TRPS1_ENST00000520276.1_Nonsense_Mutation_p.K1120*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.K1116*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.K870* NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 1116 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGCTTATATTTACTCCAGAAC 0.473000 Langer-Giedion syndrome 16 52 0 0 0.003163 0 0 RNF220 55182 broad.mit.edu 37 1 44878025 44878025 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:44878025C>T ENST00000355387.2 + 2 706 c.256C>T c.(256-258)Cgt>Tgt p.R86C RNF220_ENST00000361799.2_Missense_Mutation_p.R86C|RNF220_ENST00000372247.2_Missense_Mutation_p.R86C Q5VTB9 RN220_HUMAN ring finger protein 220 86 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 TTTTGCCAATCGTGATTTCCC 0.507000 76 189 0 0 0.003610 0 0 KMT2D 8085 broad.mit.edu 37 12 49435896 49435896 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:49435896G>A ENST00000301067.7 - 28 6084 c.6085C>T c.(6085-6087)Cct>Tct p.P2029S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTGAGATTAGGAAAATTAATG 0.542000 4 27 0 0 0.001168 0 0 EGR1 1958 broad.mit.edu 37 5 137803293 137803293 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:137803293C>T ENST00000239938.4 + 2 1427 c.1155C>T c.(1153-1155)acC>acT p.T385T NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 385 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACCTCACCACCCACATCCGCA 0.602000 10 60 0 0 0.000673 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755006 140755006 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140755006C>T ENST00000517434.1 + 1 1356 c.1356C>T c.(1354-1356)ttC>ttT p.F452F PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCACCTTCCCCCATTCAT 0.527000 91 107 0 0 0.003610 0 0 MYO18B 84700 broad.mit.edu 37 22 26224752 26224752 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:26224752C>T ENST00000335473.7 + 15 3046 c.2796C>T c.(2794-2796)tcC>tcT p.S932S MYO18B_ENST00000407587.2_Silent_p.S932S|MYO18B_ENST00000536101.1_Silent_p.S932S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 932 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GATCCTTTTCCTCCCACCATC 0.567000 17 18 0 0 0.007413 0 0 COL14A1 7373 broad.mit.edu 37 8 121239556 121239556 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:121239556G>A ENST00000297848.3 + 17 2372 c.2102G>A c.(2101-2103)aGc>aAc p.S701N COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S606N|COL14A1_ENST00000309791.4_Missense_Mutation_p.S701N|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 701 Fibronectin type-III 5. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GATGATGGAAGCGAGAGTGAG 0.512000 23 148 0 0 0.004656 0 0 SCN1A 6323 broad.mit.edu 37 2 166893031 166893031 + Missense_Mutation SNP G G A rs121918625 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:166893031G>A ENST00000423058.2 - 16 2973 c.2956C>T c.(2956-2958)Ctc>Ttc p.L986F AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L958F|SCN1A_ENST00000375405.3_Missense_Mutation_p.L975F|SCN1A_ENST00000303395.4_Missense_Mutation_p.L986F|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 986 L -> F (in SMEI; complete loss of function; dbSNP:rs121918625). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCCAGAAAGAGATTCAGGACC 0.353000 14 13 0 0 0.001855 0 0 DENND1A 57706 broad.mit.edu 37 9 126144641 126144641 + Silent SNP G G A rs149511328 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:126144641G>A ENST00000373624.2 - 22 2301 c.2100C>T c.(2098-2100)ccC>ccT p.P700P DENND1A_ENST00000542603.1_Silent_p.P485P|DENND1A_ENST00000394219.3_Silent_p.P711P|DENND1A_ENST00000473039.1_5'UTR NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 700 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CTTGGGGCCGGGGGATGGTGA 0.697000 11 6 0 0 0.000978 0 0 POU5F1 5460 broad.mit.edu 37 6 31133377 31133377 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31133377C>T ENST00000513407.1 - 1 1570 c.40G>A c.(40-42)Gaa>Aaa p.E14K POU5F1_ENST00000259915.8_Missense_Mutation_p.E210K|POU5F1_ENST00000512818.1_Missense_Mutation_p.E14K|POU5F1_ENST00000471529.2_Missense_Mutation_p.E14K|POU5F1_ENST00000606567.1_Missense_Mutation_p.E40K|POU5F1_ENST00000441888.3_Missense_Mutation_p.E14K Q01860 PO5F1_HUMAN POU class 5 homeobox 1 210 anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 TTGTCAGCTTCCTCCACCCAC 0.527000 T EWSR1 sarcoma 10 99 0 0 0.006214 0 0 CCR1 1230 broad.mit.edu 37 3 46245783 46245783 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:46245783C>T ENST00000296140.3 - 2 147 c.22G>A c.(22-24)Gag>Aag p.E8K CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 8 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TCATAGTCCTCTGTGGTGTTT 0.498000 8 20 0 0 0.004482 0 0 PRTG 283659 broad.mit.edu 37 15 55921201 55921201 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:55921201C>T ENST00000389286.4 - 16 2672 c.2623_splice c.e16-1 p.G875_splice NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 875 Fibronectin type-III 5. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGGTTATTGCCCCTAGAAATA 0.318000 10 16 0 0 0.000673 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5549574 5549574 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:5549574G>A ENST00000397747.3 + 4 849 c.601G>A c.(601-603)Gaa>Aaa p.E201K PDCD1LG2_ENST00000397745.2_Intron NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 201 Ig-like C2-type. immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) TCACGTGAGGGAACTTACTTT 0.517000 12 46 0 0 0.001368 0 0 CLPS 1208 broad.mit.edu 37 6 35763630 35763630 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:35763630C>T ENST00000259938.2 - 2 107 c.84_splice c.e2-1 p.E29_splice NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 29 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 TCACCGTTCTCCTGCCAGGAG 0.597000 29 149 0 0 0.002445 0 0 EXOC3 11336 broad.mit.edu 37 5 458137 458137 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:458137C>T ENST00000512944.1 + 6 1476 c.1287C>T c.(1285-1287)ttC>ttT p.F429F EXOC3_ENST00000315013.5_Silent_p.F429F NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 440 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CCATTGTCTTCCAGGTACCAC 0.537000 7 13 0 0 0.004482 0 0 CRYM 1428 broad.mit.edu 37 16 21272580 21272580 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:21272580G>A ENST00000219599.3 - 9 1140 c.875C>T c.(874-876)tCt>tTt p.S292F CRYM_ENST00000396023.2_Missense_Mutation_p.S292F|CRYM_ENST00000415987.2_Missense_Mutation_p.S250F|CRYM_ENST00000543948.1_Missense_Mutation_p.S292F NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 292 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) CTTACCCAAAGACTTGAACAC 0.512000 8 10 0 0 0.003080 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236519 33236519 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:33236519C>T ENST00000401073.2 + 6 1809 c.1739C>T c.(1738-1740)cCc>cTc p.P580L KIAA1522_ENST00000373480.1_Missense_Mutation_p.P521L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P532L NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 521 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ACACTTTCGCCCTCCAGTGGA 0.667000 5 9 0 0 0.000602 0 0 ALDH7A1 501 broad.mit.edu 37 5 125919695 125919695 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:125919695G>A ENST00000409134.3 - 4 541 c.322C>T c.(322-324)Cca>Tca p.P108S ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P135S|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P108S|ALDH7A1_ENST00000413020.1_5'UTR NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 108 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) CCTCGTTTTGGAGCAGGAATC 0.348000 29 99 0 0 0.002096 0 0 DPY19L4 286148 broad.mit.edu 37 8 95777444 95777444 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:95777444C>T ENST00000414645.2 + 9 1003 c.904C>T c.(904-906)Ctc>Ttc p.L302F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 302 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) CATATTTTCCCTCTTTCTGGG 0.294000 148 628 0 0 0.003610 0 0 ITPR1 3708 broad.mit.edu 37 3 4735338 4735338 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:4735338G>A ENST00000354582.6 + 33 4544 c.4194G>A c.(4192-4194)aaG>aaA p.K1398K ITPR1_ENST00000302640.8_Silent_p.K1383K|ITPR1_ENST00000456211.2_Silent_p.K1374K|ITPR1_ENST00000443694.2_Silent_p.K1383K|ITPR1_ENST00000423119.2_Silent_p.K1389K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.K1389K Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1398 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CGGAGGGTAAGAATGTCTACA 0.572000 19 32 0 0 0.006122 0 0 HLF 3131 broad.mit.edu 37 17 53342916 53342916 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:53342916C>T ENST00000226067.5 + 1 544 c.71C>T c.(70-72)tCc>tTc p.S24F NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 24 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 GTGCTCAGGTCCCTGCTGGAG 0.637000 T TCF3 ALL 8 42 0 0 0.001368 0 0 APOB 338 broad.mit.edu 37 2 21224983 21224983 + Silent SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:21224983T>G ENST00000233242.1 - 29 13438 c.13311A>C c.(13309-13311)tcA>tcC p.S4437S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4437 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAACTTGACTTGAGAGTTGGG 0.388000 218 462 0 0 0.003610 0 0 RLTPR 146206 broad.mit.edu 37 16 67685394 67685394 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:67685394G>A ENST00000334583.6 + 24 2732 c.2404G>A c.(2404-2406)Gag>Aag p.E802K RLTPR_ENST00000545661.1_Missense_Mutation_p.E766K NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 802 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ACAGGTGGGCGAGGTCTGCCG 0.562000 4 8 0 0 0.000248 0 0 CEP112 201134 broad.mit.edu 37 17 63898358 63898358 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:63898358C>T ENST00000392769.2 - 20 2293 c.2075G>A c.(2074-2076)cGg>cAg p.R692Q CEP112_ENST00000541355.1_Missense_Mutation_p.R327Q|CEP112_ENST00000537949.1_Missense_Mutation_p.R650Q|CEP112_ENST00000535342.2_Missense_Mutation_p.R692Q NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 692 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 TTCAATTTCCCGTTCATGGTC 0.443000 20 56 0 0 0.001523 0 0 LRRC31 79782 broad.mit.edu 37 3 169557848 169557848 + Silent SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:169557848A>T ENST00000316428.5 - 9 1638 c.1581T>A c.(1579-1581)gcT>gcA p.A527A LRRC31_ENST00000264676.5_Silent_p.A471A|LRRC31_ENST00000523069.1_3'UTR NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 527 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CCTCCTGTGAAGCTGGGAGAA 0.398000 8 38 0 0 0.003080 0 0 OR6K3 391114 broad.mit.edu 37 1 158687328 158687328 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:158687328G>A ENST00000368146.1 - 1 625 c.626C>T c.(625-627)tCc>tTc p.S209F OR6K3_ENST00000368145.1_Missense_Mutation_p.S193F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CAGAATCATGGACGTGTCTGT 0.453000 45 133 0 0 0.003610 0 0 EP400 57634 broad.mit.edu 37 12 132471241 132471241 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:132471241C>T ENST00000333577.4 + 7 2329 c.2220C>T c.(2218-2220)tcC>tcT p.S740S EP400_ENST00000330386.6_Silent_p.S704S|EP400_ENST00000389561.2_Silent_p.S704S|EP400_ENST00000389562.2_Silent_p.S703S|EP400_ENST00000332482.4_Silent_p.S667S Q96L91 EP400_HUMAN E1A binding protein p400 740 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CAGTCACTTCCCGGACCCCAG 0.592000 38 82 0 0 0.006230 0 0 TNFSF12-TNFSF13 407977 broad.mit.edu 37 17 7460146 7460146 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:7460146G>A ENST00000293826.4 + 6 480 c.425G>A c.(424-426)aGc>aAc p.S142N TNFSF12_ENST00000293825.6_Missense_Mutation_p.S142N|TNFSF12_ENST00000557233.1_Missense_Mutation_p.S142N|TNFSF12_ENST00000462811.1_3'UTR NM_172089.3 NP_742086.1 Q8IZK7 Q8IZK7_HUMAN 142 immune response extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|large_intestine(2) 3 Prostate(122;0.157) AACAGCTCCAGCCCTCTGCGC 0.567000 20 16 0 0 0.007413 0 0 SVEP1 79987 broad.mit.edu 37 9 113205957 113205957 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:113205957G>C ENST00000401783.2 - 27 4843 c.4507C>G c.(4507-4509)Ccc>Gcc p.P1503A SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1480A|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1503A NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1503 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTCACCGAGGGACAGTTTGTT 0.433000 9 15 0 0 0.001368 0 0 OR2B2 81697 broad.mit.edu 37 6 27879100 27879100 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:27879100T>A ENST00000303324.2 - 1 1074 c.998A>T c.(997-999)aAc>aTc p.N333I NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 333 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 TGCGGAGAAGTTAGTAAGGTA 0.318000 17 99 0 0 0.007413 0 0 DNAH10 196385 broad.mit.edu 37 12 124298047 124298047 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:124298047G>A ENST00000409039.3 + 19 3152 c.3127G>A c.(3127-3129)Gat>Aat p.D1043N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1043 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCTAATTAAGGATGAGCATTG 0.438000 13 43 0 0 0.001368 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66963868 66963868 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:66963868G>A ENST00000276570.5 + 3 373 c.86G>A c.(85-87)gGa>gAa p.G29E DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 29 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CTGCATAAGGGAGCATCAAAT 0.408000 20 130 0 0 0.001523 0 0 FNDC7 163479 broad.mit.edu 37 1 109270433 109270433 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:109270433C>T ENST00000370017.3 + 7 1392 c.1115C>T c.(1114-1116)cCc>cTc p.P372L FNDC7_ENST00000271311.2_Missense_Mutation_p.P373L NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 373 extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTTCAGCTCCCTGTTGTCCT 0.552000 30 86 0 0 0.002445 0 0 SBSPON 157869 broad.mit.edu 37 8 73993429 73993429 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:73993429C>T ENST00000297354.6 - 2 438 c.234G>A c.(232-234)ggG>ggA p.G78G SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 78 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity GGCTCCATTCCCCCACGAAGC 0.627000 9 65 0 0 0.006214 0 0 NPY2R 4887 broad.mit.edu 37 4 156136099 156136099 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:156136099C>T ENST00000329476.3 + 2 1497 c.1008C>T c.(1006-1008)ttC>ttT p.F336F NPY2R_ENST00000506608.1_Silent_p.F336F NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 336 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GAAAGGCTTTCCTCTCGGCCT 0.498000 24 40 0 0 0.004656 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128902303 128902303 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:128902303G>A ENST00000371106.3 + 21 2059 c.1867G>A c.(1867-1869)Gag>Aag p.E623K NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 623 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GACCATCCGGGAGAAGGTGGG 0.602000 19 2 0 0 0.002299 0 0 THUMPD2 80745 broad.mit.edu 37 2 39993221 39993221 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:39993221G>A ENST00000505747.1 - 5 806 c.779C>T c.(778-780)tCt>tTt p.S260F THUMPD2_ENST00000454352.2_3'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.S230F NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 260 THUMP. methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) CCCCACCACAGAGTAAATGTC 0.328000 27 86 0 0 0.002096 0 0 DNAJA2 10294 broad.mit.edu 37 16 47001558 47001558 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:47001558G>A ENST00000317089.5 - 5 659 c.443_splice c.e5-1 p.G148_splice NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 148 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) TTCCGCCTTGGCTAAAGCAAG 0.468000 40 39 0 0 0.003610 0 0 KIF14 9928 broad.mit.edu 37 1 200571082 200571082 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:200571082G>A ENST00000367350.4 - 11 2532 c.2094C>T c.(2092-2094)gcC>gcT p.A698A NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 698 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CTATTAAACGGGCTTGGTTAG 0.353000 28 111 0 0 0.002096 0 0 IFT57 55081 broad.mit.edu 37 3 107932859 107932859 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:107932859G>A ENST00000264538.3 - 4 751 c.504C>T c.(502-504)taC>taT p.Y168Y NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 168 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) CTTCTACTGGGTATATTGGCC 0.308000 7 27 0 0 0.006214 0 0 BATF 10538 broad.mit.edu 37 14 76012946 76012946 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:76012946C>T ENST00000286639.6 + 3 568 c.310C>T c.(310-312)Ccc>Tcc p.P104S BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron NM_006399.3 NP_006390.1 Q16520 BATF_HUMAN basic leucine zipper transcription factor, ATF-like 104 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.028) GCCCTCGCCCCCCGAGGTGGT 0.652000 5 8 0 0 0.001168 0 0 ZNF99 7652 broad.mit.edu 37 19 22952081 22952081 + Missense_Mutation SNP C C T rs149345966 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:22952081C>T ENST00000397104.3 - 2 111 c.112G>A c.(112-114)Gag>Aag p.E38K ZNF99_ENST00000596209.1_Missense_Mutation_p.E17K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CATTGCCACTCCTCCAGAGCG 0.403000 16 22 0 0 0.004007 0 0 LRRC1 55227 broad.mit.edu 37 6 53707025 53707025 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:53707025G>A ENST00000370888.1 + 2 554 c.277_splice c.e2+1 p.E93_splice LRRC1_ENST00000370882.1_Splice_Site_p.E93_splice NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 93 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) GTCTCGAAATGGTAAGAAAGA 0.418000 34 152 0 0 0.003755 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074232 46074232 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:46074232G>A ENST00000391618.1 - 1 344 c.300C>T c.(298-300)gtC>gtT p.V100V TSPEAR_ENST00000323084.4_Intron NM_198698.1 NP_941971.1 P60329 KR124_HUMAN keratin associated protein 12-4 100 15 X 5 AA approximate repeats. keratin filament lung(4)|ovary(1)|prostate(1) 6 CAGGTCTATAGACCAGGGTGG 0.612000 13 23 0 0 0.002450 0 0 RICTOR 253260 broad.mit.edu 37 5 38954908 38954908 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:38954908G>A ENST00000357387.3 - 27 2695 c.2665C>T c.(2665-2667)Cat>Tat p.H889Y RICTOR_ENST00000296782.5_Missense_Mutation_p.H889Y|RICTOR_ENST00000503698.1_5'UTR NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 889 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding p.H889N(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CCTGTTTTATGGTGTACTAGT 0.313000 35 67 0 0 0.006230 0 0 ZIM3 114026 broad.mit.edu 37 19 57646553 57646553 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57646553G>A ENST00000269834.1 - 5 1537 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCCAGTATGGATTTTTTTAT 0.388000 41 96 0 0 0.006999 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1893687 1893687 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:1893687C>T ENST00000518288.1 + 28 3498 c.3335C>T c.(3334-3336)tCc>tTc p.S1112F ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S1113F|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S1088F|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S1084F|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S1050F O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1113 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) ATGGTGATCTCCCACATGGCC 0.597000 3 9 0 0 0.004672 0 0 GRAP2 9402 broad.mit.edu 37 22 40365475 40365475 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:40365475G>C ENST00000344138.4 + 7 1014 c.751G>C c.(751-753)Gaa>Caa p.E251Q GRAP2_ENST00000399090.2_Missense_Mutation_p.E138Q|GRAP2_ENST00000543252.1_Missense_Mutation_p.E211Q|GRAP2_ENST00000540310.1_Missense_Mutation_p.E185Q|GRAP2_ENST00000407075.3_Missense_Mutation_p.E251Q|GRAP2_ENST00000544756.1_Missense_Mutation_p.E179Q NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 251 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CTTGGGCAGTGAAATGAATGC 0.572000 24 65 0 0 0.004656 0 0 THBS1 7057 broad.mit.edu 37 15 39885722 39885722 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:39885722G>A ENST00000260356.5 + 19 3285 c.3120G>A c.(3118-3120)tgG>tgA p.W1040* NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1040 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TTGTGATGTGGAAGCAAGTCA 0.532000 33 43 0 0 0.002836 0 0 LINC00674 100499466 broad.mit.edu 37 17 66110660 66110660 + RNA SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:66110660T>C ENST00000435469.2 + 0 214 TACGGAGGGGTTGCCAGGTAA 0.393000 3 7 0 0 0.004672 0 0 OR10J3 441911 broad.mit.edu 37 1 159283829 159283829 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159283829G>A ENST00000332217.5 - 1 620 c.621C>T c.(619-621)gtC>gtT p.V207V NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V207V(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GTAGAACAAGGACACAGACGC 0.478000 22 104 0 0 0.002299 0 0 GRPEL2 134266 broad.mit.edu 37 5 148727857 148727857 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:148727857A>T ENST00000329271.3 + 2 210 c.100A>T c.(100-102)Act>Tct p.T34S GRPEL2_ENST00000513661.1_Missense_Mutation_p.T34S|RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_Missense_Mutation_p.T34S|GRPEL2_ENST00000507562.1_3'UTR NM_152407.3 NP_689620.2 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial (E. coli) 34 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCATTCAGCACTGCCACCCA 0.512000 56 73 0 0 0.003610 0 0 TGS1 96764 broad.mit.edu 37 8 56699515 56699515 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:56699515G>A ENST00000260129.5 + 4 1535 c.1058G>A c.(1057-1059)aGc>aAc p.S353N NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 353 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GAAGTTAGTAGCAAAAGAGAG 0.438000 22 83 0 0 0.001882 0 0 PPFIA1 8500 broad.mit.edu 37 11 70194330 70194330 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:70194330G>T ENST00000253925.7 + 16 2182 c.1967G>T c.(1966-1968)cGg>cTg p.R656L PPFIA1_ENST00000389547.3_Missense_Mutation_p.R656L|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 656 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ACAGAGCAGCGGGCAGAGGAG 0.438000 9 394 0.000274275 0.000464203 0.004482 1 0 DONSON 29980 broad.mit.edu 37 21 34958419 34958419 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:34958419C>G ENST00000453626.1 - 3 475 c.471G>C c.(469-471)tgG>tgC p.W157C AP000304.12_ENST00000429238.1_Missense_Mutation_p.E119Q|DONSON_ENST00000303113.6_Missense_Mutation_p.W157C|DONSON_ENST00000303071.5_Missense_Mutation_p.W157C|DONSON_ENST00000432378.1_Missense_Mutation_p.W157C Q9NYP3 DONS_HUMAN downstream neighbor of SON 157 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TTTTAATACTCCAGTCCACAG 0.418000 OREG0003565 type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 19 0 0 0.001984 0 0 APPL2 55198 broad.mit.edu 37 12 105591619 105591619 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:105591619C>T ENST00000258530.3 - 11 1201 c.976G>A c.(976-978)Gac>Aac p.D326N APPL2_ENST00000551662.1_Missense_Mutation_p.D332N|APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.D283N NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 326 PH.|Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GAGCAGTTGTCCAGGTCCTGG 0.552000 17 48 0 0 0.004990 0 0 GGT5 2687 broad.mit.edu 37 22 24622695 24622695 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:24622695C>T ENST00000327365.4 - 7 1358 c.942G>A c.(940-942)ggG>ggA p.G314G GGT5_ENST00000398292.3_Silent_p.G314G|GGT5_ENST00000263112.7_Silent_p.G282G|GGT5_ENST00000418439.2_Silent_p.G237G NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 314 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CGTTCACCCTCCCTTCAGGCC 0.572000 36 67 0 0 0.006999 0 0 SORCS1 114815 broad.mit.edu 37 10 108339231 108339231 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:108339231G>A ENST00000263054.6 - 25 3274 c.3265_splice c.e25-1 p.A1089_splice SORCS1_ENST00000369698.1_Splice_Site_p.A624_splice|SORCS1_ENST00000344440.6_Splice_Site_p.A1089_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1089 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCACCAGGGGGGCTTGTGGGG 0.522000 13 32 0 0 0.001368 0 0 RNF34 80196 broad.mit.edu 37 12 121867907 121867907 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:121867907G>A ENST00000392464.2 + 7 1203 c.1134G>A c.(1132-1134)agG>agA p.R378R KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000542973.1_3'UTR Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 0 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) AAGACCAAAGGAAAGTGTCGG 0.498000 33 80 0 0 0.002836 0 0 PROKR2 128674 broad.mit.edu 37 20 5283349 5283349 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:5283349C>T ENST00000546004.1 - 3 738 c.492G>A c.(490-492)cgG>cgA p.R164R PROKR2_ENST00000217270.3_Silent_p.R164R Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 164 R -> Q (in KAL3). 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 GATAATTCATCCGTGGTTTCA 0.488000 HNSCC(71;0.22) 36 131 0 0 0.005524 0 0 TGM1 7051 broad.mit.edu 37 14 24728447 24728447 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:24728447G>A ENST00000206765.6 - 7 1116 c.993C>T c.(991-993)tcC>tcT p.S331S TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 331 S -> P (in ARCI-TGM1). 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) TGTCATCCAGGGAGTTCACCT 0.622000 4 6 0 0 0.000248 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973808 120973808 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:120973808G>A ENST00000273666.6 + 16 1779 c.1508G>A c.(1507-1509)gGa>gAa p.G503E STXBP5L_ENST00000492541.1_Missense_Mutation_p.G503E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G503E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G503E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G503E NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 503 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GTAGGAGAAGGAAAACAAACA 0.378000 7 30 0 0 0.004482 0 0 UNC5B 219699 broad.mit.edu 37 10 73053615 73053615 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:73053615C>T ENST00000335350.6 + 13 2516 c.2100C>T c.(2098-2100)ttC>ttT p.F700F UNC5B_ENST00000373192.4_Silent_p.F689F NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 700 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TGGCCGTCTTCGCCCCCGCCC 0.657000 4 2 0 0 0.001168 0 0 CNGA3 1261 broad.mit.edu 37 2 99013380 99013380 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:99013380G>A ENST00000393504.1 + 8 2164 c.1747G>A c.(1747-1749)Gat>Aat p.D583N CNGA3_ENST00000436404.2_Missense_Mutation_p.D565N|CNGA3_ENST00000409937.1_Missense_Mutation_p.D587N|CNGA3_ENST00000272602.2_Missense_Mutation_p.D583N NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 583 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CTCAAAGGACGATCTCATGGA 0.562000 16 31 0 0 0.003163 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370480 35370480 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:35370480G>A ENST00000373347.1 - 3 773 c.505C>T c.(505-507)Cgc>Tgc p.R169C DLGAP3_ENST00000235180.4_Missense_Mutation_p.R169C O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 169 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGCCGGATGCGGCTAGGGCTC 0.667000 11 32 0 0 0.002450 0 0 PTPRB 5787 broad.mit.edu 37 12 70946726 70946726 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:70946726G>A ENST00000334414.6 - 21 5262 c.5218C>T c.(5218-5220)Cgg>Tgg p.R1740W PTPRB_ENST00000550857.1_Missense_Mutation_p.R1432W|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1432W|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1522W|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1652W|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1432W NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1522 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGATACACCCGAATGGAGGCA 0.483000 49 105 0 0 0.003610 0 0 SLC12A5 57468 broad.mit.edu 37 20 44672558 44672558 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:44672558C>T ENST00000454036.1 + 11 1525 c.1449C>T c.(1447-1449)gtC>gtT p.V483V SLC12A5_ENST00000243964.3_Silent_p.V460V|SLC12A5_ENST00000539566.1_Intron NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 483 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTGAGGGGGTCGTCCTGCGGG 0.557000 31 85 0 0 0.003271 0 0 ASTN1 460 broad.mit.edu 37 1 177001815 177001815 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:177001815C>T ENST00000367654.2 - 3 655 c.642G>A c.(640-642)cgG>cgA p.R214R ASTN1_ENST00000361833.2_Silent_p.R214R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.R214R|ASTN1_ENST00000367657.3_Silent_p.R214R O14525 ASTN1_HUMAN astrotactin 1 214 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCAGGCTCTCCCGTCCGTGCC 0.622000 36 14 0 0 0.005524 0 0 CD163 9332 broad.mit.edu 37 12 7637816 7637816 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:7637816G>A ENST00000359156.4 - 11 2857 c.2655C>T c.(2653-2655)tcC>tcT p.S885S CD163_ENST00000541972.1_Silent_p.S873S|CD163_ENST00000432237.2_Silent_p.S885S|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Silent_p.S918S NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 885 SRCR 8. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ACATGGGAATGGACATGGCCT 0.547000 21 35 0 0 0.001523 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325516 150325516 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:150325516C>T ENST00000328902.5 - 3 386 c.170G>A c.(169-171)gGa>gAa p.G57E GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 57 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GATGCTGTTTCCTGTTGCACT 0.542000 95 127 0 0 0.003610 0 0 KRT71 112802 broad.mit.edu 37 12 52940286 52940286 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52940286G>A ENST00000267119.5 - 7 1178 c.1109C>T c.(1108-1110)tCc>tTc p.S370F NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 370 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CTCCAGGTTGGAAGCCTAAGG 0.597000 7 16 0 0 0.001984 0 0 TRIOBP 11078 broad.mit.edu 37 22 38131177 38131177 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:38131177G>A ENST00000406386.3 + 9 5089 c.4834G>A c.(4834-4836)Gag>Aag p.E1612K RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1612 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TTTAGGGCCAGAGCTGGGTCC 0.672000 OREG0026548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 83 13 0 0 0.003610 0 0 LIX1L 128077 broad.mit.edu 37 1 145492310 145492310 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:145492310C>T ENST00000369308.3 + 3 606 c.532C>T c.(532-534)Cct>Tct p.P178S RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like 178 large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAATGAACATCCTTCCCGAAG 0.478000 37 73 0 0 0.004878 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3687199 3687199 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:3687199C>T ENST00000344754.4 - 2 203 c.204G>A c.(202-204)caG>caA p.Q68Q SIGLEC1_ENST00000202578.4_Silent_p.Q68Q NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 68 Ig-like V-type. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGCTCACCACCTGCCGCTGGC 0.667000 4 18 0 0 0.000248 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777260 18777260 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:18777260G>A ENST00000380548.4 + 19 3372 c.3033G>A c.(3031-3033)cgG>cgA p.R1011R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1011 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGGAGAAGCGGGGCCTGGCCG 0.706000 10 6 0 0 0.000673 0 0 PSG5 5673 broad.mit.edu 37 19 43680138 43680138 + Missense_Mutation SNP T T C rs147160846 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:43680138T>C ENST00000404580.1 - 3 681 c.593A>G c.(592-594)gAa>gGa p.E198G PSG5_ENST00000342951.6_Missense_Mutation_p.E198G|PSG5_ENST00000599812.1_Missense_Mutation_p.E291G|PSG5_ENST00000407356.1_Missense_Mutation_p.E198G|PSG5_ENST00000366175.3_Missense_Mutation_p.E198G|PSG5_ENST00000407568.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 198 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GATCCTGTTTTCAATGGGTCG 0.502000 67 115 0 0 0.003610 0 0 FLRT2 23768 broad.mit.edu 37 14 86088580 86088580 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:86088580C>T ENST00000330753.4 + 2 1489 c.722C>T c.(721-723)tCg>tTg p.S241L FLRT2_ENST00000554746.1_Missense_Mutation_p.S241L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 241 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTACGTAATTCGCTGTCCCAC 0.502000 28 32 0 0 0.004656 0 0 ABCA13 154664 broad.mit.edu 37 7 48319316 48319316 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:48319316G>A ENST00000435803.1 + 18 8549 c.8525G>A c.(8524-8526)aGa>aAa p.R2842K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2842 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ACTTCCACAAGAACTTTGTTT 0.358000 45 76 0 0 0.003610 0 0 ACOX3 8310 broad.mit.edu 37 4 8383294 8383294 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:8383294G>A ENST00000356406.5 - 14 1655 c.1578C>T c.(1576-1578)ctC>ctT p.L526L ACOX3_ENST00000413009.2_Silent_p.L526L|ACOX3_ENST00000503233.1_Silent_p.L526L NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 526 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 AAGTCTCTCGGAGCAGGTAGC 0.408000 32 157 0 0 0.002836 0 0 SYNE2 23224 broad.mit.edu 37 14 64519208 64519208 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:64519208C>T ENST00000358025.3 + 48 8807 c.8577C>T c.(8575-8577)ccC>ccT p.P2859P SYNE2_ENST00000344113.4_Silent_p.P2859P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.P2892P NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2859 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGATAATTCCCAGGGTGGAGA 0.378000 28 34 0 0 0.007291 0 0 C1orf172 126695 broad.mit.edu 37 1 27278866 27278866 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:27278866G>A ENST00000320567.5 - 2 94 c.6C>T c.(4-6)ccC>ccT p.P2P NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 2 Pro-rich. NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GTCCAGGGCGGGGCATGGCTC 0.617000 22 65 0 0 0.004656 0 0 STRC 161497 broad.mit.edu 37 15 43893725 43893725 + Missense_Mutation SNP G G A rs147990592 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:43893725G>A ENST00000450892.2 - 24 4647 c.4570C>T c.(4570-4572)Cgt>Tgt p.R1524C STRC_ENST00000541030.1_Missense_Mutation_p.R751C NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1524 sensory perception of sound cell surface p.R1524G(1) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCTCAGGACGAAATCCCCGG 0.532000 17 21 0 0 0.006122 0 0 TTLL2 83887 broad.mit.edu 37 6 167755030 167755030 + Missense_Mutation SNP G G A rs111648937 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:167755030G>A ENST00000239587.5 + 3 1730 c.1642G>A c.(1642-1644)Gct>Act p.A548T NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 548 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CCGTGGCAAAGCTCCAGATCC 0.507000 32 43 0 0 0.003755 0 0 CCDC66 285331 broad.mit.edu 37 3 56627979 56627979 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:56627979C>T ENST00000394672.3 + 10 1397 c.1327C>T c.(1327-1329)Cgt>Tgt p.R443C CCDC66_ENST00000326595.7_Missense_Mutation_p.R409C|CCDC66_ENST00000436465.2_Missense_Mutation_p.R443C NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 443 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) CAGCTTTCTCCGTTCTATGAC 0.363000 13 47 0 0 0.001855 0 0 MEI1 150365 broad.mit.edu 37 22 42166716 42166716 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:42166716C>T ENST00000401548.3 + 20 2335 c.2295C>T c.(2293-2295)ttC>ttT p.F765F MEI1_ENST00000400107.1_Silent_p.F133F|MEI1_ENST00000540880.1_Silent_p.F83F|MEI1_ENST00000300398.4_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 765 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TCAGAAAATTCCTAGAAGGCA 0.488000 4 23 0 0 0.000248 0 0 GPATCH1 55094 broad.mit.edu 37 19 33608800 33608800 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:33608800G>A ENST00000170564.2 + 16 2580 c.2266G>A c.(2266-2268)Gcc>Acc p.A756T NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 756 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) CTTATTCAGGGCCATCTTTGC 0.517000 31 287 0 0 0.002445 0 0 HARBI1 283254 broad.mit.edu 37 11 46637408 46637408 + Missense_Mutation SNP G G A rs141436294 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:46637408G>A ENST00000326737.3 - 2 627 c.380C>T c.(379-381)tCc>tTc p.S127F NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 127 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 AGCCTGAATGGAGGCTTCATC 0.517000 48 84 0 0 0.003610 0 0 FREM1 158326 broad.mit.edu 37 9 14750232 14750232 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:14750232C>T ENST00000380881.4 - 31 6268 c.5453G>A c.(5452-5454)gGa>gAa p.G1818E FREM1_ENST00000380880.3_Missense_Mutation_p.G1817E|FREM1_ENST00000422223.2_Missense_Mutation_p.G1817E|FREM1_ENST00000380894.1_Missense_Mutation_p.G353E Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1817 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTCCTCTAATCCGTCATAGGT 0.363000 24 56 0 0 0.002299 0 0 OGG1 4968 broad.mit.edu 37 3 9793459 9793459 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:9793459C>G ENST00000302036.7 + 3 734 c.391C>G c.(391-393)Cga>Gga p.R131G OGG1_ENST00000349503.5_Missense_Mutation_p.R131G|OGG1_ENST00000302008.8_Missense_Mutation_p.R131G|OGG1_ENST00000344629.7_Missense_Mutation_p.R131G|OGG1_ENST00000383826.5_Missense_Mutation_p.R131G|OGG1_ENST00000339511.5_Missense_Mutation_p.R131G|OGG1_ENST00000302003.7_Missense_Mutation_p.R131G|OGG1_ENST00000449570.2_Missense_Mutation_p.R131G NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 131 R -> Q (found in a lung cancer sample; loss of activity). depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) TCCAGGTGTGCGACTGCTGCG 0.557000 Base excision repair (BER), DNA glycosylases 41 110 0 0 0.002852 0 0 POU2F2 5452 broad.mit.edu 37 19 42600377 42600377 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:42600377G>A ENST00000342301.4 - 8 586 c.520C>T c.(520-522)Ctg>Ttg p.L174L POU2F2_ENST00000526816.2_Silent_p.L174L|POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000529952.1_Silent_p.L174L|POU2F2_ENST00000529067.1_Intron P09086 PO2F2_HUMAN POU class 2 homeobox 2 174 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GGGTCGGGCAGCGTAGGGCGG 0.701000 4 6 0 0 0.000602 0 0 ACSM1 116285 broad.mit.edu 37 16 20702372 20702372 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:20702372C>T ENST00000307493.4 - 1 206 c.139G>A c.(139-141)Gag>Aag p.E47K ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E47K NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 47 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TTAAATTCCTCCGGTACTTCA 0.488000 36 56 0 0 0.004289 0 0 GJA5 2702 broad.mit.edu 37 1 147230828 147230828 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:147230828G>A ENST00000271348.2 - 2 680 c.519C>T c.(517-519)ttC>ttT p.F173F GJA5_ENST00000369237.1_Silent_p.F173F NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 173 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) TTCCGTAGATGAAGTACTGGC 0.567000 16 28 0 0 0.003163 0 0 ALPI 248 broad.mit.edu 37 2 233321866 233321866 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:233321866C>T ENST00000295463.3 + 5 559 c.482C>T c.(481-483)tCa>tTa p.S161L NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 161 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TCAGGAAAGTCAGTAGGAGTG 0.627000 16 9 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9049258 9049258 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9049258C>T ENST00000397910.4 - 5 32576 c.32373G>A c.(32371-32373)cgG>cgA p.R10791R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10793 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTCACCAACCGTGATACAG 0.493000 43 62 0 0 0.002522 0 0 MUC16 94025 broad.mit.edu 37 19 9060867 9060867 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9060867G>A ENST00000397910.4 - 3 26782 c.26579C>T c.(26578-26580)tCt>tTt p.S8860F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8862 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTTACTGCAGATAAAGACAC 0.517000 38 41 0 0 0.007835 0 0 DNAH3 55567 broad.mit.edu 37 16 21071604 21071604 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:21071604C>T ENST00000261383.3 - 26 3793 c.3794G>A c.(3793-3795)gGg>gAg p.G1265E DNAH3_ENST00000415178.1_Missense_Mutation_p.G1265E NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1265 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGCTTCAATCCCAAGTCCAAT 0.502000 46 73 0 0 0.003610 0 0 ATP1A4 480 broad.mit.edu 37 1 160128877 160128877 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:160128877G>A ENST00000368081.4 + 5 1082 c.611G>A c.(610-612)gGa>gAa p.G204E NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 204 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATCAAGGGTGGAGACCGAGTC 0.512000 22 108 0 0 0.001882 0 0 MXRA5 25878 broad.mit.edu 37 X 3261814 3261814 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:3261814G>A ENST00000217939.6 - 2 215 c.61C>T c.(61-63)Ccg>Tcg p.P21S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 21 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCACTCGCGGATGGCCCCAA 0.662000 4 0 0 0 0.000248 0 0 PAXIP1 22976 broad.mit.edu 37 7 154747269 154747269 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:154747269G>A ENST00000404141.1 - 15 2776 c.2622C>T c.(2620-2622)ttC>ttT p.F874F PAXIP1_ENST00000397192.1_Silent_p.F874F|PAXIP1_ENST00000473219.1_5'UTR Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 874 BRCT 5.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GGACAGGCTCGAATCCAGTGA 0.363000 11 27 0 0 0.001855 0 0 SLC50A1 55974 broad.mit.edu 37 1 155108417 155108417 + Silent SNP C C G rs141021704 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:155108417C>G ENST00000368404.4 + 1 92 c.30C>G c.(28-30)ctC>ctG p.L10L SLC50A1_ENST00000368401.5_5'UTR|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000303343.8_Silent_p.L10L|SLC50A1_ENST00000368405.3_3'UTR NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 10 MtN3/slv 1. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 TGGACTCGCTCATTTACGGAG 0.662000 10 22 0 0 0.001368 0 0 IL7R 3575 broad.mit.edu 37 5 35876118 35876118 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:35876118C>T ENST00000303115.3 + 8 1039 c.910C>T c.(910-912)Ctg>Ttg p.L304L IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 304 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGAAAGTTTCCTGGACTGCCA 0.408000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 16 39 0 0 0.004007 0 0 LPPR4 9890 broad.mit.edu 37 1 99771774 99771774 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:99771774G>A ENST00000370185.3 + 7 1997 c.1500G>A c.(1498-1500)caG>caA p.Q500Q LPPR4_ENST00000370184.1_Silent_p.Q342Q|LPPR4_ENST00000457765.1_Silent_p.Q442Q NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 500 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CTGGCAATCAGTACCTCAAAA 0.572000 58 90 0 0 0.003610 0 0 LRP8 7804 broad.mit.edu 37 1 53729861 53729861 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:53729861G>A ENST00000306052.6 - 10 1736 c.1635C>T c.(1633-1635)atC>atT p.I545I LRP8_ENST00000354412.3_Silent_p.I416I|LRP8_ENST00000347547.2_Silent_p.I375I|LRP8_ENST00000465675.1_Silent_p.I98I|LRP8_ENST00000371454.2_Silent_p.I545I NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 545 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 GGTCAACAGCGATGGCCCGGG 0.572000 16 15 0 0 0.003163 0 0 C2CD5 9847 broad.mit.edu 37 12 22623806 22623806 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:22623806G>A ENST00000333957.4 - 21 2653 c.2398C>T c.(2398-2400)Cag>Tag p.Q800* C2CD5_ENST00000545552.1_Nonsense_Mutation_p.Q813*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.Q800*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.Q802*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.Q791*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.Q615*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.Q800* NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TGTAAAGCCTGATTTTTGTCA 0.343000 25 23 0 0 0.004656 0 0 HELZ2 85441 broad.mit.edu 37 20 62200328 62200328 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:62200328G>A ENST00000467148.1 - 5 1182 c.1113C>T c.(1111-1113)ttC>ttT p.F371F NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CCGTCTTCAGGAACACCTGGC 0.677000 11 35 0 0 0.001368 0 0 SLC9C1 285335 broad.mit.edu 37 3 111997628 111997628 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:111997628A>T ENST00000305815.5 - 4 518 c.266T>A c.(265-267)tTt>tAt p.F89Y SLC9C1_ENST00000487372.1_Missense_Mutation_p.F89Y|SLC9C1_ENST00000467397.1_5'UTR NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 89 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TGCAGTAGTAAAGAAAACTAC 0.318000 52 118 0 0 0.003610 0 0 AARS 16 broad.mit.edu 37 16 70286801 70286801 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:70286801G>A ENST00000261772.8 - 21 2873 c.2730C>T c.(2728-2730)gcC>gcT p.A910A NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 910 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) AGCCCCGATTGGCTGCATTCT 0.557000 OREG0023912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 42 0 0 0.001216 0 0 SOCS2 8835 broad.mit.edu 37 12 93968784 93968784 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:93968784C>T ENST00000340600.2 + 3 1024 c.426C>T c.(424-426)gcC>gcT p.A142A SOCS2_ENST00000549206.1_Silent_p.A142A|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Silent_p.A142A|SOCS2_ENST00000551556.1_Silent_p.A142A|SOCS2_ENST00000549122.1_Silent_p.A142A NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4 NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1 O14508 SOCS2_HUMAN suppressor of cytokine signaling 2 142 SH2. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1) 14 GTCCAGAAGCCCCCCGGAACG 0.473000 13 37 0 0 0.003163 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562480 75562480 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:75562480C>T ENST00000300576.5 + 18 2022 c.2022C>T c.(2020-2022)ccC>ccT p.P674P NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 674 ovary(1) 1 AGGGTTCTCCCCATGACAACC 0.602000 21 81 0 0 0.001523 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156725868 156725868 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:156725868G>A ENST00000264424.8 + 12 1760 c.1678G>A c.(1678-1680)Gga>Aga p.G560R GUCY1B3_ENST00000513437.1_Missense_Mutation_p.G492R|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.G535R|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.G527R|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.G540R|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.G582R|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.G492R NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 560 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AGGAGAAAAGGGAAAAATAAA 0.393000 9 14 0 0 0.004482 0 0 OSBPL5 114879 broad.mit.edu 37 11 3125455 3125455 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:3125455G>A ENST00000263650.7 - 10 1371 c.1212C>T c.(1210-1212)tcC>tcT p.S404S OSBPL5_ENST00000525498.1_Silent_p.S315S|OSBPL5_ENST00000542243.1_Silent_p.S35S|OSBPL5_ENST00000348039.5_Silent_p.S336S|OSBPL5_ENST00000389989.3_Silent_p.S336S NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 404 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AGTAGTAGTCGGAGAGCTTGT 0.647000 18 19 0 0 0.007413 0 0 SERPINA3 12 broad.mit.edu 37 14 95081190 95081190 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:95081190G>A ENST00000553947.1 + 5 1375 c.487G>A c.(487-489)Gga>Aga p.G163R SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.G138R|SERPINA3_ENST00000467132.1_Missense_Mutation_p.G138R|SERPINA3_ENST00000393078.3_Missense_Mutation_p.G138R P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 138 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GCTGAGTATGGGAAATGCCAT 0.537000 8 17 0 0 0.003080 0 0 DNAH1 25981 broad.mit.edu 37 3 52384571 52384571 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:52384571C>T ENST00000420323.2 + 16 2955 c.2694C>T c.(2692-2694)ttC>ttT p.F898F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 898 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGGATGAATTCCTCTACAACC 0.557000 10 15 0 0 0.001855 0 0 TM6SF2 53345 broad.mit.edu 37 19 19377355 19377355 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:19377355G>A ENST00000389363.4 - 9 940 c.868C>T c.(868-870)Cct>Tct p.P290S AC138430.4_ENST00000586064.2_RNA NM_001001524.2 NP_001001524.2 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 290 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) GAGCAACCAGGGAAGGTGAGA 0.612000 21 25 0 0 0.001216 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256034 140256034 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140256034G>A ENST00000398631.2 + 1 977 c.977G>A c.(976-978)gGg>gAg p.G326E PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGATAAAGGGATTCCTTCC 0.418000 48 65 0 0 0.003610 0 0 KRT8 3856 broad.mit.edu 37 12 53291216 53291216 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:53291216T>A ENST00000552551.1 - 9 1880 c.1448A>T c.(1447-1449)aAg>aTg p.K483M KRT8_ENST00000293308.6_Missense_Mutation_p.K483M|KRT8_ENST00000552150.1_Missense_Mutation_p.K511M|KRT8_ENST00000546897.1_Missense_Mutation_p.K483M P05787 K2C8_HUMAN keratin 8 483 Tail. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCTGTTCACTTGGGCAGGAC 0.637000 15 41 0 0 0.006122 0 0 TRIM65 201292 broad.mit.edu 37 17 73888544 73888544 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:73888544T>C ENST00000269383.3 - 3 613 c.548A>G c.(547-549)aAg>aGg p.K183R NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 183 intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGCTGAACTTGCCGGAGAC 0.642000 44 21 0 0 0.003610 0 0 DENND4B 9909 broad.mit.edu 37 1 153906615 153906615 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:153906615G>A ENST00000361217.4 - 19 3355 c.2937C>T c.(2935-2937)gcC>gcT p.A979A NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 979 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACTCACTGTGGGCCACACCGG 0.637000 3 12 0 0 0.004672 0 0 MAP3K13 9175 broad.mit.edu 37 3 185161269 185161269 + Silent SNP C C T rs138574503 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:185161269C>T ENST00000265026.3 + 4 1030 c.696C>T c.(694-696)atC>atT p.I232I MAP3K13_ENST00000446828.1_Silent_p.I25I|MAP3K13_ENST00000443863.1_Silent_p.I88I|MAP3K13_ENST00000535426.1_Silent_p.I88I|MAP3K13_ENST00000424227.1_Silent_p.I232I NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 232 Protein kinase. CII -> YLY (in Ref. 6; CAA80915). activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) ATTGTATTATCATGGAATACT 0.408000 26 70 0 0 0.006320 0 0 SUCO 51430 broad.mit.edu 37 1 172501872 172501872 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:172501872G>A ENST00000367723.3 + 1 384 c.260G>A c.(259-261)cGa>cAa p.R87Q NM_016227.2 NP_057311.2 SUN domain containing ossification factor AGAGAAAAACGAATTCTGGAA 0.517000 15 48 0 0 0.002450 0 0 GPATCH1 55094 broad.mit.edu 37 19 33600768 33600768 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:33600768C>T ENST00000170564.2 + 11 1745 c.1431C>T c.(1429-1431)tcC>tcT p.S477S NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 477 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) CCCAGCTCTCCCCTGCAGCGG 0.567000 17 188 0 0 0.004007 0 0 ACOX3 8310 broad.mit.edu 37 4 8401291 8401291 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:8401291G>A ENST00000356406.5 - 8 942 c.865C>T c.(865-867)Ccc>Tcc p.P289S ACOX3_ENST00000413009.2_Missense_Mutation_p.P289S|ACOX3_ENST00000503233.1_Missense_Mutation_p.P289S NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 289 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 ACCTTAAAGGGGCTGACATAG 0.622000 19 105 0 0 0.001216 0 0 MROH7 374977 broad.mit.edu 37 1 55139793 55139793 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:55139793C>T ENST00000414150.2 + 10 2183 c.1905C>T c.(1903-1905)atC>atT p.I635I MROH7_ENST00000421030.2_Silent_p.I635I|MROH7_ENST00000454855.2_Silent_p.I153I|MROH7_ENST00000545244.1_Silent_p.I203I|MROH7_ENST00000395690.2_Silent_p.I635I|MROH7_ENST00000409996.1_Silent_p.I203I|MROH7_ENST00000339553.5_Silent_p.I635I maestro heat-like repeat family member 7 ACGGCATCATCATCCTCTACA 0.512000 26 55 0 0 0.006320 0 0 HIRA 7290 broad.mit.edu 37 22 19384456 19384456 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:19384456G>A ENST00000263208.5 - 7 764 c.508C>T c.(508-510)Ctg>Ttg p.L170L HIRA_ENST00000340170.4_Silent_p.L170L|HIRA_ENST00000541063.1_Silent_p.L126L|HIRA_ENST00000546308.1_Silent_p.L126L NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 170 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TGACCTCTCAGAGTAGCTAGA 0.478000 17 77 0 0 0.007413 0 0 SLFN13 146857 broad.mit.edu 37 17 33772396 33772396 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:33772396C>T ENST00000285013.6 - 3 579 c.304G>A c.(304-306)Gga>Aga p.G102R SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.G102R|SLFN13_ENST00000542635.1_Missense_Mutation_p.G102R|SLFN13_ENST00000533791.1_Missense_Mutation_p.G102R NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 102 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAACACCTTCCGTGTTGCTTA 0.388000 21 27 0 0 0.001882 0 0 PRF1 5551 broad.mit.edu 37 10 72360558 72360558 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:72360558C>T ENST00000441259.1 - 2 261 c.101G>A c.(100-102)aGc>aAc p.S34N PRF1_ENST00000373209.2_Missense_Mutation_p.S34N NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 34 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GAACTTGTGGCTGCGCTTGCA 0.677000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 8 13 0 0 0.003080 0 0 CCNJL 79616 broad.mit.edu 37 5 159680613 159680613 + Silent SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:159680613G>T ENST00000393977.3 - 7 1365 c.1080C>A c.(1078-1080)tcC>tcA p.S360S CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.S312S NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 360 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGCCTGCAAGGAGTCCCGAT 0.657000 19 61 8.04996e-18 1.37545e-17 0.001882 1 0 CFAP54 144535 broad.mit.edu 37 12 97073495 97073495 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:97073495G>A ENST00000524981.3 + 7 1034 c.1034G>A c.(1033-1035)aGa>aAa p.R345K Q6ZTY8 CL063_HUMAN 319 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CGACACAGCAGAAAGTTGCTT 0.453000 34 94 0 0 0.005524 0 0 FAM179A 165186 broad.mit.edu 37 2 29221100 29221100 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:29221100C>T ENST00000379558.4 + 3 471 c.120C>T c.(118-120)tcC>tcT p.S40S FAM179A_ENST00000403861.2_Silent_p.S40S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 40 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCATCAACTCCAGTCTGCCTC 0.652000 4 20 0 0 0.001168 0 0 COL1A2 1278 broad.mit.edu 37 7 94051224 94051224 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:94051224T>G ENST00000297268.6 + 39 2834 c.2363T>G c.(2362-2364)tTc>tGc p.F788C NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 788 Missing (in OI2A). 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) ATGACTGGTTTCCCTGGTGCT 0.448000 HNSCC(75;0.22) 11 28 0 0 0.001368 0 0 GPR179 440435 broad.mit.edu 37 17 36487299 36487299 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:36487299G>A ENST00000342292.4 - 11 2173 c.2153C>T c.(2152-2154)tCc>tTc p.S718F NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 718 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCTCATGAAGGAGCGGCCCAG 0.657000 22 8 0 0 0.001882 0 0 KIF13A 63971 broad.mit.edu 37 6 17837260 17837260 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:17837260T>C ENST00000378814.5 - 11 1003 c.1004A>G c.(1003-1005)aAc>aGc p.N335S KIF13A_ENST00000378816.5_Missense_Mutation_p.N335S|KIF13A_ENST00000378826.2_Missense_Mutation_p.N335S|KIF13A_ENST00000378843.2_Missense_Mutation_p.N335S|KIF13A_ENST00000259711.6_Missense_Mutation_p.N335S NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 335 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTCTTCATAGTTGTCTGCGGC 0.488000 72 260 0 0 0.003610 0 0 ASAH2 56624 broad.mit.edu 37 10 52008332 52008332 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:52008332C>T ENST00000395526.3 - 1 38 c.39G>A c.(37-39)ctG>ctA p.L13L ASAH2_ENST00000447815.1_Silent_p.L13L NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 13 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 GGAGGAAAATCAGGAATGTCT 0.433000 14 25 0 0 0.003163 0 0 TAF4 6874 broad.mit.edu 37 20 60578892 60578892 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:60578892G>A ENST00000252996.3 - 8 2265 c.2266C>T c.(2266-2268)Ccg>Tcg p.P756S TAF4_ENST00000488539.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 756 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GTCACCTGCGGGGGCCGGATC 0.652000 13 26 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9086712 9086712 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9086712G>A ENST00000397910.4 - 1 5306 c.5103C>T c.(5101-5103)tcC>tcT p.S1701S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1701 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAAGGACAGAGGAAACTCTTC 0.488000 53 66 0 0 0.003610 0 0 NBR1 4077 broad.mit.edu 37 17 41341698 41341698 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:41341698C>T ENST00000422280.1 + 8 1033 c.574C>T c.(574-576)Ccc>Tcc p.P192S NBR1_ENST00000589872.1_Missense_Mutation_p.P192S|NBR1_ENST00000389312.4_Missense_Mutation_p.P192S|NBR1_ENST00000341165.6_Missense_Mutation_p.P192S|NBR1_ENST00000590996.1_Missense_Mutation_p.P192S|NBR1_ENST00000542611.1_Missense_Mutation_p.P171S NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 192 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GGGTTCTTGTCCCTCAGAAGT 0.418000 44 115 0 0 0.002852 0 0 RGS7BP 401190 broad.mit.edu 37 5 63905011 63905011 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:63905011A>G ENST00000334025.2 + 6 1032 c.706A>G c.(706-708)Act>Gct p.T236A NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 236 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) TCTGAATCTAACTCCCTACCC 0.468000 31 25 0 0 0.004289 0 0 DAGLA 747 broad.mit.edu 37 11 61507082 61507082 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:61507082C>A ENST00000257215.5 + 17 1918 c.1802C>A c.(1801-1803)cCg>cAg p.P601Q NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 601 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCACTCTACCCGCCCGGCCGC 0.657000 9 23 3.86212e-05 6.5478e-05 0.000673 1 0 PRRT1 80863 broad.mit.edu 37 6 32118479 32118479 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32118479G>A ENST00000211413.5 - 2 348 c.224C>T c.(223-225)cCc>cTc p.P75L PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 75 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 AGAGGAGGAGGGACCGCGCTG 0.746000 14 143 0 0 0.002450 0 0 AFAP1 60312 broad.mit.edu 37 4 7844898 7844898 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:7844898A>G ENST00000420658.1 - 5 786 c.514T>C c.(514-516)Ttg>Ctg p.L172L AFAP1_ENST00000358461.2_Silent_p.L172L|AFAP1_ENST00000382543.3_Silent_p.L172L|AFAP1_ENST00000360265.4_Silent_p.L172L NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 172 PH 1. actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 ACGCAGAGCAACTTGGTCCAC 0.532000 27 138 0 0 0.001512 0 0 LPHN3 23284 broad.mit.edu 37 4 62935951 62935951 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:62935951C>T ENST00000514591.1 + 25 4064 c.3735C>T c.(3733-3735)gaC>gaT p.D1245D LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000506746.1_Silent_p.D1347D|LPHN3_ENST00000545650.1_Silent_p.D1245D|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.D1356D|LPHN3_ENST00000514996.1_Silent_p.D1279D|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000508946.1_Silent_p.D1288D|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.D1304D|LPHN3_ENST00000504896.1_3'UTR Q9HAR2 LPHN3_HUMAN latrophilin 3 1223 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AAATCATAGACCGTGGCTATA 0.453000 7 27 0 0 0.001984 0 0 CSMD2 114784 broad.mit.edu 37 1 34192243 34192243 + Silent SNP G G A rs140431671 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:34192243G>A ENST00000373381.4 - 16 2588 c.2412C>T c.(2410-2412)ctC>ctT p.L804L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 764 CUB 5. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGCCCGGAGAGAGGATGGTGC 0.577000 14 39 0 0 0.002450 0 0 AWAT2 158835 broad.mit.edu 37 X 69262176 69262176 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:69262176G>A ENST00000276101.3 - 6 713 c.708C>T c.(706-708)ttC>ttT p.F236F NM_001002254.1 NP_001002254.1 Q6E213 AWAT2_HUMAN acyl-CoA wax alcohol acyltransferase 2 236 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(1) 9 CACCAGGAGTGAAAATGTGCT 0.498000 15 5 0 0 0.004990 0 0 FBN3 84467 broad.mit.edu 37 19 8156470 8156470 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:8156470G>A ENST00000600128.1 - 48 6324 c.5910C>T c.(5908-5910)atC>atT p.I1970I FBN3_ENST00000270509.2_Silent_p.I1970I|FBN3_ENST00000601739.1_Silent_p.I1970I Q75N90 FBN3_HUMAN fibrillin 3 1970 EGF-like 32; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.I1970I(2) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGCACTCGTCGATATCTGGAA 0.602000 21 22 0 0 0.002299 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133661478 133661478 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:133661478G>A ENST00000310926.4 - 11 1869 c.1596C>T c.(1594-1596)tcC>tcT p.S532S SLCO2A1_ENST00000493729.1_Silent_p.S456S NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 532 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GGGGGTTGTGGGAGATGCAGG 0.587000 17 35 0 0 0.004990 0 0 GABRG2 2566 broad.mit.edu 37 5 161580318 161580318 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:161580318C>T ENST00000356592.3 + 10 1832 c.1372C>T c.(1372-1374)Ccc>Tcc p.P458S GABRG2_ENST00000393933.4_Missense_Mutation_p.P355S|GABRG2_ENST00000414552.2_Missense_Mutation_p.P498S|GABRG2_ENST00000361925.4_Missense_Mutation_p.P450S NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 450 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GATCTTCTTCCCCACTGCCTT 0.453000 100 155 0 0 0.003610 0 0 CYP3A5 1577 broad.mit.edu 37 7 99247856 99247856 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:99247856C>T ENST00000339843.2 - 12 2959 c.e12-1 CYP3A5_ENST00000222982.4_Splice_Site|CYP3A5_ENST00000343703.5_Splice_Site cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) CTTACTGAACCTAGTTCCATA 0.408000 32 54 0 0 0.002836 0 0 RANGAP1 5905 broad.mit.edu 37 22 41648895 41648895 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:41648895G>A ENST00000455915.2 - 11 2830 c.1361C>T c.(1360-1362)tCc>tTc p.S454F RANGAP1_ENST00000407260.4_Missense_Mutation_p.S399F|RANGAP1_ENST00000405486.1_Missense_Mutation_p.S454F|RANGAP1_ENST00000356244.3_Missense_Mutation_p.S454F P46060 RAGP1_HUMAN Ran GTPase activating protein 1 454 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TATCAGCACGGAGCTCTTGGG 0.607000 19 50 0 0 0.001216 0 0 WNT8A 7478 broad.mit.edu 37 5 137426466 137426466 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:137426466G>A ENST00000506684.1 + 5 1050 c.814G>A c.(814-816)Gaa>Aaa p.E272K WNT8A_ENST00000398754.1_Missense_Mutation_p.E254K Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 254 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTTTTTAGAGGAATCACCAGA 0.582000 37 56 0 0 0.006999 0 0 RP1 6101 broad.mit.edu 37 8 55541479 55541479 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:55541479A>G ENST00000220676.1 + 4 5185 c.5037A>G c.(5035-5037)tcA>tcG p.S1679S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1679 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGGGCAGTCATTTGGCTCTT 0.413000 90 117 0 0 0.003610 0 0 RIMS2 9699 broad.mit.edu 37 8 104898211 104898211 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:104898211C>T ENST00000507740.1 + 2 1044 c.808C>T c.(808-810)Cct>Tct p.P270S RIMS2_ENST00000262231.10_Missense_Mutation_p.P270S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P462S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P240S NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 493 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCACTTAGATCCTAGCTCTGC 0.468000 HNSCC(12;0.0054) 22 81 0 0 0.001882 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794854 18794854 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:18794854G>A ENST00000377428.2 + 1 485 c.395G>A c.(394-396)gGa>gAa p.G132E C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 TTCCTTGCCGGAAAGTTCAAA 0.473000 17 66 0 0 0.002299 0 0 SEL1L2 80343 broad.mit.edu 37 20 13850798 13850798 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:13850798C>T ENST00000284951.5 - 13 1230 c.1156G>A c.(1156-1158)Gga>Aga p.G386R SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G386R Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 386 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AGGGGAACTCCTTTTCCATGA 0.333000 26 116 0 0 0.004656 0 0 NAV3 89795 broad.mit.edu 37 12 78513382 78513382 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:78513382C>T ENST00000397909.2 + 15 3579 c.3406C>T c.(3406-3408)Cgc>Tgc p.R1136C NAV3_ENST00000228327.6_Missense_Mutation_p.R1136C|NAV3_ENST00000536525.2_Missense_Mutation_p.R1136C|NAV3_ENST00000266692.7_Missense_Mutation_p.R1136C Q8IVL0 NAV3_HUMAN neuron navigator 3 1136 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCTACAATATCGCAGCTTGCC 0.512000 HNSCC(70;0.22) 13 51 0 0 0.001368 0 0 HDAC7 51564 broad.mit.edu 37 12 48191223 48191223 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:48191223G>A ENST00000080059.7 - 6 520 c.521C>T c.(520-522)cCt>cTt p.P174L HDAC7_ENST00000380610.4_Missense_Mutation_p.P191L|HDAC7_ENST00000427332.2_Missense_Mutation_p.P135L|HDAC7_ENST00000354334.3_Missense_Mutation_p.P174L|HDAC7_ENST00000552960.1_Missense_Mutation_p.P157L NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 135 Transcription repression 1 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GGGAACAGGAGGCAAAAAGCT 0.612000 29 72 0 0 0.002096 0 0 LARS 51520 broad.mit.edu 37 5 145500056 145500056 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:145500056G>A ENST00000394434.2 - 31 3369 c.3203C>T c.(3202-3204)tCc>tTc p.S1068F LARS_ENST00000545646.1_Missense_Mutation_p.S1022F|LARS_ENST00000510191.1_Missense_Mutation_p.S1014F|LARS_ENST00000274562.9_Missense_Mutation_p.S1041F NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 1068 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CAGAGAAACGGACACACCAGG 0.428000 39 48 0 0 0.007835 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570693 47570693 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:47570693G>A ENST00000253048.5 - 15 2869 c.2832C>T c.(2830-2832)ctC>ctT p.L944L ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 944 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGTGCCCGGGGAGTGGGTCCA 0.687000 42 66 0 0 0.003610 0 0 TSPAN8 7103 broad.mit.edu 37 12 71519129 71519129 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:71519129C>T ENST00000393330.2 - 12 1251 c.699G>A c.(697-699)caG>caA p.Q233Q TSPAN8_ENST00000247829.3_Silent_p.Q233Q|TSPAN8_ENST00000552128.1_Silent_p.Q150Q|TSPAN8_ENST00000546561.1_Silent_p.Q233Q P19075 TSN8_HUMAN tetraspanin 8 233 protein glycosylation integral to membrane|lysosome signal transducer activity p.Q233H(1) breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) TGTTCCCGATCTGGCAATACA 0.353000 96 238 0 0 0.003610 0 0 LOC541473 541473 broad.mit.edu 37 7 75023525 75023525 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:75023525C>T ENST00000275590.5 - 0 418 STAG3L1_ENST00000402225.5_RNA NR_003602.2 TTCTCCAGCTCCTACTCTGAA 0.468000 14 13 0 0 0.004007 0 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847367 32847367 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32847367C>T ENST00000420261.1 - 0 258 GCATCTTCATCATCACCCATC 0.428000 8 40 0 0 0.003080 0 0 NLRP11 204801 broad.mit.edu 37 19 56303677 56303677 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:56303677C>T ENST00000443188.1 - 9 3213 c.2503G>A c.(2503-2505)Gag>Aag p.E835K NLRP11_ENST00000592953.1_Missense_Mutation_p.E736K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E781K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E781K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E835K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 835 ATP binding p.E835Q(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TGAAGCTCCTCTAACTGACAG 0.488000 30 87 0 0 0.004878 0 0 C4B 721 broad.mit.edu 37 6 31997536 31997536 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31997536C>T ENST00000435363.2 + 29 3954 c.3870C>T c.(3868-3870)acC>acT p.T1290T C4B_ENST00000425700.2_Silent_p.T1290T NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1290 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity CCTGGCTCACCCGTCAGGGCA 0.652000 13 194 0 0 0.002450 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34823398 34823398 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:34823398C>T ENST00000192788.5 + 9 1209 c.1038C>T c.(1036-1038)gtC>gtT p.V346V UHRF1BP1_ENST00000452449.2_Silent_p.V346V NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 346 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TTATAGGTGTCTCTGCCAACA 0.458000 32 143 0 0 0.003755 0 0 SNTB2 6645 broad.mit.edu 37 16 69334793 69334793 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:69334793C>T ENST00000336278.4 + 7 1627 c.1589C>T c.(1588-1590)tCg>tTg p.S530L VPS4A_ENST00000569775.1_Intron|RP11-343C2.3_ENST00000570054.2_Intron NM_006750.3 NP_006741.1 Q13425 SNTB2_HUMAN syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 530 Calmodulin-binding (By similarity).|SU. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) ACGTTTTTATCGGCCAAAGTC 0.418000 22 50 0 0 0.001882 0 0 LRFN2 57497 broad.mit.edu 37 6 40400382 40400382 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:40400382G>A ENST00000338305.6 - 2 1013 c.471C>T c.(469-471)tcC>tcT p.S157S NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 157 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GGTTGTTGTAGGAGAGGTCCA 0.582000 20 86 0 0 0.007413 0 0 MYO5B 4645 broad.mit.edu 37 18 47500984 47500984 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:47500984G>A ENST00000285039.7 - 10 1357 c.1056_splice c.e10-1 p.P353_splice NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 353 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TACATCCTGGGGCTGTGGGAG 0.587000 20 31 0 0 0.001882 0 0 ZNF443 10224 broad.mit.edu 37 19 12541577 12541577 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:12541577G>A ENST00000301547.5 - 4 1606 c.1409C>T c.(1408-1410)aCt>aTt p.T470I CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 470 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TCCAGTATGAGTTGTTTCATG 0.408000 19 24 0 0 0.005443 0 0 PGP 283871 broad.mit.edu 37 16 2263819 2263819 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:2263819A>C ENST00000333503.7 - 2 905 c.876T>G c.(874-876)aaT>aaG p.N292K NM_001042371.2 NP_001035830.1 A6NDG6 PGP_HUMAN phosphoglycolate phosphatase 292 carbohydrate metabolic process phosphoglycolate phosphatase activity skin(1) 1 CACTTTCCTGATTATTCTTCA 0.517000 19 62 0 0 0.007413 0 0 NWD1 284434 broad.mit.edu 37 19 16875870 16875870 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:16875870G>A ENST00000524140.2 + 10 2695 c.2277G>A c.(2275-2277)cgG>cgA p.R759R NWD1_ENST00000523826.1_Silent_p.R553R|NWD1_ENST00000379808.3_Silent_p.R759R|NWD1_ENST00000339803.6_Silent_p.R624R|NWD1_ENST00000552788.1_Silent_p.R759R|NWD1_ENST00000549814.1_Silent_p.R759R NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 759 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTTCCTGCCGGGGCATCTCTG 0.607000 19 14 0 0 0.002780 0 0 AEN 64782 broad.mit.edu 37 15 89169881 89169881 + Silent SNP C C T rs35195058 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:89169881C>T ENST00000332810.3 + 2 592 c.441C>T c.(439-441)atC>atT p.I147I AEN_ENST00000379231.3_Silent_p.I147I NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease 147 Exonuclease. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding NS(1)|kidney(1)|large_intestine(1)|lung(4) 7 ACAAGTACATCAGGCCTGAGA 0.607000 29 32 0 0 0.006320 0 0 ZNF443 10224 broad.mit.edu 37 19 12541578 12541578 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:12541578T>A ENST00000301547.5 - 4 1605 c.1408A>T c.(1408-1410)Act>Tct p.T470S CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 470 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CCAGTATGAGTTGTTTCATGC 0.408000 19 23 0 0 0.005443 0 0 ZNF37BP 100129482 broad.mit.edu 37 10 43016537 43016537 + RNA SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:43016537A>G ENST00000473592.1 - 0 2662 AACTCATTGAACTTCATTCTT 0.313000 22 42 0 0 0.003330 0 0 SPATA20 64847 broad.mit.edu 37 17 48626486 48626486 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:48626486C>T ENST00000006658.6 + 6 719 c.599C>T c.(598-600)cCt>cTt p.P200L SPATA20_ENST00000356488.4_Missense_Mutation_p.P184L|SPATA20_ENST00000393244.3_Missense_Mutation_p.P140L|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 184 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) ACCTATTTCCCTCCTGAGGAT 0.652000 14 40 0 0 0.002450 0 0 FAM117B 150864 broad.mit.edu 37 2 203622041 203622041 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:203622041A>C ENST00000303116.6 + 6 1220 c.478A>C c.(478-480)Agc>Cgc p.S160R FAM117B_ENST00000392238.2_Missense_Mutation_p.S404R NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 404 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 AGACAGGGGAAGCAACAACAG 0.572000 124 188 0 0 0.003610 0 0 DSP 1832 broad.mit.edu 37 6 7580387 7580387 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:7580387G>A ENST00000379802.3 + 23 4305 c.3964G>A c.(3964-3966)Gac>Aac p.D1322N DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1322 Central fibrous rod domain. 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) GACCATTCAGGACAAAAATAA 0.502000 21 120 0 0 0.001882 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184920 118184920 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:118184920G>A ENST00000427715.2 + 11 1397 c.963G>A c.(961-963)taG>taA p.*321* SLC30A8_ENST00000519688.1_Silent_p.*321*|SLC30A8_ENST00000521243.1_Silent_p.*321*|SLC30A8_ENST00000456015.2_Silent_p.*370* NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 0 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCTGTGACTAGCTCAGTCACA 0.463000 83 380 0 0 0.003610 0 0 QTRT1 81890 broad.mit.edu 37 19 10823826 10823826 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:10823826C>T ENST00000250237.5 + 10 1102 c.1092C>T c.(1090-1092)atC>atT p.I364I NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 364 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GCACCAGCATCGTGGAGAAGC 0.687000 19 29 0 0 0.001216 0 0 CNTN4 152330 broad.mit.edu 37 3 2861197 2861197 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:2861197G>A ENST00000397461.1 + 6 770 c.386G>A c.(385-387)aGa>aAa p.R129K CNTN4_ENST00000418658.1_Missense_Mutation_p.R129K|CNTN4_ENST00000427331.1_Missense_Mutation_p.R129K NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 129 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ACAAGAACAAGAAGCACTGTG 0.413000 15 44 0 0 0.004990 0 0 HTT 3064 broad.mit.edu 37 4 3148619 3148619 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:3148619C>T ENST00000355072.5 + 25 3384 c.3239C>T c.(3238-3240)cCa>cTa p.P1080L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1080 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCTTGGTTCCCATTGGATCTC 0.507000 150 836 0 0 0.003610 0 0 GPR111 222611 broad.mit.edu 37 6 47649845 47649845 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:47649845G>A ENST00000398742.2 + 5 1395 c.1346G>A c.(1345-1347)gGa>gAa p.G449E GPR111_ENST00000296862.1_Missense_Mutation_p.G517E|GPR111_ENST00000507065.1_Missense_Mutation_p.G449E Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 517 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CACCACAAGGGATGTGTGGCA 0.433000 19 60 0 0 0.006122 0 0 DHRS7C 201140 broad.mit.edu 37 17 9694459 9694459 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:9694459C>T ENST00000330255.4 - 1 155 c.143G>A c.(142-144)gGa>gAa p.G48E DHRS7C_ENST00000571134.1_Missense_Mutation_p.G48E NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 48 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CTTGCCCAGTCCTGAGATGGC 0.602000 3 4 0 0 0.000248 0 0 TINAGL1 64129 broad.mit.edu 37 1 32048836 32048836 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:32048836A>G ENST00000271064.7 + 4 537 c.461A>G c.(460-462)aAc>aGc p.N154S TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Intron NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 154 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) AACCAGGGCAACTATGGGTGA 0.567000 18 35 0 0 0.007413 0 0 CCKBR 887 broad.mit.edu 37 11 6292162 6292162 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:6292162G>A ENST00000525462.1 + 4 943 c.940G>A c.(940-942)Gag>Aag p.E314K CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron P32239 GASR_HUMAN cholecystokinin B receptor 266 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GTTGAGCTGGGAGCGGAGGTC 0.637000 4 5 0 0 0.000248 0 0 HSD17B4 3295 broad.mit.edu 37 5 118844910 118844910 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:118844910G>A ENST00000504811.1 + 17 1667 c.1483G>A c.(1483-1485)Ggt>Agt p.G495S HSD17B4_ENST00000515320.1_Missense_Mutation_p.G452S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G333S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G330S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G446S|HSD17B4_ENST00000256216.6_Missense_Mutation_p.G470S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G208S NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 470 Enoyl-CoA hydratase 2.|MaoC-like. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TGGAGGCTTTGGTGGAAAACG 0.348000 35 147 0 0 0.001951 0 0 TMEM260 54916 broad.mit.edu 37 14 57099832 57099832 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:57099832C>T ENST00000261556.6 + 13 1789 c.1667C>T c.(1666-1668)cCt>cTt p.P556L TMEM260_ENST00000536419.1_Missense_Mutation_p.P90L|TMEM260_ENST00000538838.1_3'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 GTATTCAACCCTGAGGAATGG 0.378000 13 32 0 0 0.004990 0 0 KLHL38 340359 broad.mit.edu 37 8 124659227 124659227 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:124659227A>G ENST00000325995.7 - 2 1401 c.1378T>C c.(1378-1380)Ttc>Ctc p.F460L CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 460 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TCCATTTTGAACCACGAGTTT 0.433000 45 201 0 0 0.003214 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022309 51022309 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:51022309C>T ENST00000599957.1 - 3 858 c.661G>A c.(661-663)Gac>Aac p.D221N LRRC4B_ENST00000389201.3_Missense_Mutation_p.D221N Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 221 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TTGGGGATGTCCTTGAGGTTG 0.662000 14 5 0 0 0.002450 0 0 VAT1L 57687 broad.mit.edu 37 16 78005799 78005799 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:78005799T>A ENST00000302536.2 + 8 1283 c.1130T>A c.(1129-1131)aTt>aAt p.I377N NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 377 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GGCAAGTTAATTCTGGATGTA 0.527000 OREG0023950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 152 0 0 0.003610 0 0 DNAH8 1769 broad.mit.edu 37 6 38840747 38840747 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:38840747G>A ENST00000359357.3 + 49 6906 c.6652G>A c.(6652-6654)Gtt>Att p.V2218I DNAH8_ENST00000441566.1_Missense_Mutation_p.V2182I|DNAH8_ENST00000449981.2_Missense_Mutation_p.V2435I dynein, axonemal, heavy chain 8 p.V2218I(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTTAAATTCCGTTTTGGATGA 0.383000 30 142 0 0 0.007291 0 0 WDR47 22911 broad.mit.edu 37 1 109525357 109525357 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:109525357A>G ENST00000357672.3 - 11 2431 c.2056T>C c.(2056-2058)Ttg>Ctg p.L686L WDR47_ENST00000369965.4_Silent_p.L715L|WDR47_ENST00000400794.3_Silent_p.L722L|WDR47_ENST00000369962.3_Silent_p.L714L|WDR47_ENST00000361054.3_Silent_p.L686L O94967 WDR47_HUMAN WD repeat domain 47 714 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ATAAATGCCAAGTCTCTAATT 0.388000 167 428 0 0 0.003610 0 0 SLC1A1 6505 broad.mit.edu 37 9 4585528 4585528 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:4585528C>T ENST00000262352.3 + 12 1781 c.1545C>T c.(1543-1545)acC>acT p.T515T NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 515 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) AGTCTGACACCATCTCATTCA 0.473000 20 104 0 0 0.007413 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780979 106780979 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:106780979G>A ENST00000390612.2 - 0 38 CTCTCAGAAAGTATTTCCCAT 0.507000 4 8 0 0 0.003080 0 0 CWH43 80157 broad.mit.edu 37 4 49019268 49019268 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:49019268C>T ENST00000226432.4 + 9 1372 c.1189C>T c.(1189-1191)Ctg>Ttg p.L397L CWH43_ENST00000513409.1_Silent_p.L370L NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 397 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CTGTTTAGTTCTGTGGCTGCT 0.368000 32 85 0 0 0.003271 0 0 OR2V2 285659 broad.mit.edu 37 5 180582833 180582833 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:180582833G>A ENST00000328275.1 + 1 891 c.891G>A c.(889-891)gaG>gaA p.E297E NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAACAGGGAGGTGATGGGGG 0.607000 13 39 0 0 0.004007 0 0 EIF4G2 1982 broad.mit.edu 37 11 10824772 10824772 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:10824772G>A ENST00000526148.1 - 10 1393 c.883C>T c.(883-885)Cgt>Tgt p.R295C EIF4G2_ENST00000396525.2_Missense_Mutation_p.R295C|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R295C|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R295C NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 295 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AGCAGGAAACGAATCCTTGCT 0.333000 13 10 0 0 0.001855 0 0 FZD6 8323 broad.mit.edu 37 8 104340522 104340522 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:104340522G>A ENST00000358755.4 + 5 1736 c.1419G>A c.(1417-1419)ttG>ttA p.L473L FZD6_ENST00000522566.1_Silent_p.L473L|FZD6_ENST00000540287.1_Silent_p.L168L|FZD6_ENST00000523739.1_Silent_p.L441L NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 473 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GACCAGAATTGGCTTTATTTA 0.343000 24 101 0 0 0.003954 0 0 COL6A1 1291 broad.mit.edu 37 21 47419593 47419593 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:47419593C>T ENST00000361866.3 + 27 1877 c.1763C>T c.(1762-1764)cCg>cTg p.P588L NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 588 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CACCAAGGACCGCCTGGGCCG 0.637000 6 14 0 0 0.003080 0 0 GDF5 8200 broad.mit.edu 37 20 34021839 34021839 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:34021839G>A ENST00000374372.1 - 4 1877 c.1374C>T c.(1372-1374)ccC>ccT p.P458P GDF5_ENST00000374369.3_Silent_p.P458P|GDF5OS_ENST00000374375.1_5'UTR P43026 GDF5_HUMAN growth differentiation factor 5 458 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GTGTGGACTCGGGGTCCATGG 0.582000 10 38 0 0 0.001368 0 0 ATP10D 57205 broad.mit.edu 37 4 47517562 47517562 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:47517562G>A ENST00000273859.3 + 3 629 c.360G>A c.(358-360)aaG>aaA p.K120K ATP10D_ENST00000504445.1_Silent_p.K120K NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 120 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CCTTCCAAAAGGAAATCACCA 0.413000 39 147 0 0 0.002222 0 0 UCP2 7351 broad.mit.edu 37 11 73686070 73686070 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:73686070G>A ENST00000310473.3 - 8 1754 c.912C>T c.(910-912)tcC>tcT p.S304S UCP2_ENST00000536983.1_3'UTR NM_003355.2 NP_003346.2 P55851 UCP2_HUMAN uncoupling protein 2 (mitochondrial, proton carrier) 304 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) GAGCCTCTCGGGAAGTGCAGG 0.557000 6 7 0 0 0.001984 0 0 COLEC10 10584 broad.mit.edu 37 8 120101955 120101955 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:120101955G>A ENST00000332843.2 + 2 226 c.185G>A c.(184-186)gGa>gAa p.G62E COLEC10_ENST00000521788.1_3'UTR NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 62 Collagen-like. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) GGAGAAGAGGGAAAGCATGGC 0.413000 11 34 0 0 0.001855 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476005 27476005 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:27476005G>A ENST00000356183.4 - 34 5523 c.5508C>T c.(5506-5508)ccC>ccT p.P1836P GTF3C1_ENST00000561623.1_Silent_p.P1836P NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1836 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ACCCCTCCAGGGGTCTGGCCT 0.672000 15 52 0 0 0.007413 0 0 DAAM2 23500 broad.mit.edu 37 6 39847149 39847149 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:39847149C>T ENST00000538976.1 + 14 1923 c.1741C>T c.(1741-1743)Ctc>Ttc p.L581F DAAM2_ENST00000274867.4_Missense_Mutation_p.L581F|DAAM2_ENST00000398904.2_Missense_Mutation_p.L581F NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 581 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding p.L581F(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) GGGCCTGCCCCTCCCTCAGGA 0.662000 5 68 0 0 0.000602 0 0 CFAP54 144535 broad.mit.edu 37 12 97073463 97073463 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:97073463C>T ENST00000524981.3 + 7 1002 c.1002C>T c.(1000-1002)tcC>tcT p.S334S Q6ZTY8 CL063_HUMAN 308 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TGGAAAAATCCAAATACCATA 0.428000 46 83 0 0 0.002522 0 0 PSMC4 5704 broad.mit.edu 37 19 40480516 40480516 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:40480516C>T ENST00000157812.2 + 5 753 c.555C>T c.(553-555)ctC>ctT p.L185L PSMC4_ENST00000455878.2_Silent_p.L154L NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 185 L -> V (in Ref. 4; AAC32612). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AGCTCCCGCTCACGCATTTCG 0.632000 22 49 0 0 0.005443 0 0 NR4A3 8013 broad.mit.edu 37 9 102590329 102590329 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:102590329C>T ENST00000330847.1 + 2 82 c.38C>T c.(37-39)cCc>cTc p.P13L NR4A3_ENST00000395097.2_Missense_Mutation_p.P2L|NR4A3_ENST00000338488.4_Missense_Mutation_p.P2L Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 2 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GCAGATATGCCCTGCGTCCAA 0.512000 T EWSR1 extraskeletal myxoid chondrosarcoma 16 29 0 0 0.003163 0 0 L1TD1 54596 broad.mit.edu 37 1 62675692 62675692 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:62675692G>A ENST00000498273.1 + 4 1541 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 416 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 gctggaggaggaagaagaaga 0.562000 13 9 0 0 0.001368 0 0 ADAM30 11085 broad.mit.edu 37 1 120436799 120436799 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:120436799C>T ENST00000369400.1 - 1 2319 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 721 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GGCATTTTTTCCTGTTTGGGT 0.353000 204 485 0 0 0.003610 0 0 ANK3 288 broad.mit.edu 37 10 61898772 61898772 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:61898772G>A ENST00000280772.1 - 24 2879 c.2688C>T c.(2686-2688)tcC>tcT p.S896S ANK3_ENST00000460468.1_Silent_p.S60S|ANK3_ENST00000373827.2_Silent_p.S890S|ANK3_ENST00000355288.2_Silent_p.S30S|ANK3_ENST00000503366.1_Silent_p.S897S NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 896 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGCAGGCAGGGAATCATCAC 0.468000 25 27 0 0 0.003330 0 0 OR8B8 26493 broad.mit.edu 37 11 124310103 124310103 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:124310103C>T ENST00000328064.2 - 1 951 c.879G>A c.(877-879)agG>agA p.R293R NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 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) CGTCCTTATTCCTCAGGCTAT 0.408000 19 22 0 0 0.001216 0 0 GPR110 266977 broad.mit.edu 37 6 46996788 46996788 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:46996788C>T ENST00000371253.2 - 2 225 c.10G>A c.(10-12)Gga>Aga p.G4R GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G4R NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 4 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CACAGCACTCCAACTTTCATT 0.483000 16 54 0 0 0.004990 0 0 ZNF687 57592 broad.mit.edu 37 1 151262009 151262009 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:151262009A>G ENST00000368879.2 + 5 2725 c.2627A>G c.(2626-2628)cAt>cGt p.H876R NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 876 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATGCTGGAACATCTCAAGGTA 0.557000 19 89 0 0 0.001882 0 0 EDEM2 55741 broad.mit.edu 37 20 33725685 33725685 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:33725685G>A ENST00000540582.1 - 9 1086 c.365C>T c.(364-366)cCa>cTa p.P122L EDEM2_ENST00000374492.3_Missense_Mutation_p.P163L|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Missense_Mutation_p.P126L Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 163 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) GGTCTTACCTGGGAGGAGTTT 0.562000 22 64 0 0 0.001882 0 0 CDS1 1040 broad.mit.edu 37 4 85525461 85525461 + Silent SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:85525461T>C ENST00000295887.5 + 2 606 c.183T>C c.(181-183)atT>atC p.I61I NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 61 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TTCCGGAAATTCCACCATCCT 0.343000 23 29 0 0 0.002780 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20130629 20130629 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:20130629C>T ENST00000334554.7 + 10 1617 c.1476C>T c.(1474-1476)gcC>gcT p.A492A ZDHHC8_ENST00000405930.3_Silent_p.A492A|ZDHHC8_ENST00000320602.7_Silent_p.A400A NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 492 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GTGGCCACGCCTGCCCTGCCC 0.677000 17 25 0 0 0.007413 0 0 IMP4 92856 broad.mit.edu 37 2 131103620 131103620 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:131103620C>T ENST00000259239.3 + 7 1332 c.624C>T c.(622-624)ccC>ccT p.P208P IMP4_ENST00000409935.1_Silent_p.P208P NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 208 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding p.P208P(1) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) ACCTATTTCCCGTGCCCAAAG 0.592000 20 31 0 0 0.001882 0 0 MORC1 27136 broad.mit.edu 37 3 108725901 108725901 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:108725901G>A ENST00000232603.5 - 18 1824 c.1742C>T c.(1741-1743)tCc>tTc p.S581F MORC1_ENST00000483760.1_Intron NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 581 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TAGGCAGGTGGAAGTGACAGT 0.388000 19 41 0 0 0.001882 0 0 ADCY10 55811 broad.mit.edu 37 1 167805628 167805628 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:167805628C>T ENST00000367848.1 - 23 3449 c.2952G>A c.(2950-2952)ctG>ctA p.L984L ADCY10_ENST00000485964.1_Intron|ADCY10_ENST00000545172.1_Silent_p.L923L|ADCY10_ENST00000367851.4_Silent_p.L1076L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1076 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CTCCCAAAGCCAGAAAATGGT 0.398000 24 60 0 0 0.002780 0 0 GABRR1 2569 broad.mit.edu 37 6 89910935 89910935 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:89910935A>T ENST00000435811.1 - 2 626 c.172T>A c.(172-174)Tca>Aca p.S58T GABRR1_ENST00000369451.3_5'UTR|GABRR1_ENST00000454853.2_Missense_Mutation_p.S75T NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 75 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.S69T(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGCTGTTCTGACTTTGTCAGA 0.488000 28 49 0 0 0.001786 0 0 AOC4P 90586 broad.mit.edu 37 17 41020460 41020460 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:41020460G>A ENST00000585538.1 + 0 1299 NR_002773.1 TAGTGGCTTTGGCTTGGGCCA 0.592000 5 3 0 0 0.000602 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602377 138602377 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:138602377G>A ENST00000440172.1 - 2 2043 c.1995C>T c.(1993-1995)ccC>ccT p.P665P KIAA1549_ENST00000422774.1_Silent_p.P665P|KIAA1549_ENST00000242365.4_Silent_p.P615P NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 665 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCTCAACCAAGGGAGAAAAAG 0.498000 O BRAF pilocytic astrocytoma 8 12 0 0 0.003080 0 0 TTBK1 84630 broad.mit.edu 37 6 43226883 43226883 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43226883C>T ENST00000259750.4 + 11 1207 c.1124C>T c.(1123-1125)cCc>cTc p.P375L TTBK1_ENST00000304139.5_Missense_Mutation_p.P324L NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 375 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCAATTCTGCCCGGGAGGCCC 0.647000 18 103 0 0 0.001523 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41721580 41721580 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:41721580C>T ENST00000352645.4 + 3 323 c.66C>T c.(64-66)ccC>ccT p.P22P ZC3H7B_ENST00000351589.4_Silent_p.P22P NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 22 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CGACACTACCCCTAAAGCAAG 0.587000 4 36 0 0 0.000248 0 0 CARD11 84433 broad.mit.edu 37 7 2987262 2987262 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2987262T>A ENST00000396946.4 - 3 570 c.167A>T c.(166-168)gAt>gTt p.D56V NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 56 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTCATCTTCATCCTGCTCATC 0.547000 Mis DLBCL 28 208 0 0 0.002096 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67236143 67236143 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:67236143G>A ENST00000282670.2 + 3 321 c.193G>A c.(193-195)Gaa>Aaa p.E65K TCTEX1D1_ENST00000491611.1_3'UTR NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 65 large_intestine(2)|lung(10)|skin(1) 13 AGTTCAGATGGAAAACACCTA 0.353000 53 73 0 0 0.003610 0 0 DNAH7 56171 broad.mit.edu 37 2 196619129 196619129 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:196619129G>A ENST00000312428.6 - 63 11796 c.11696C>T c.(11695-11697)cCt>cTt p.P3899L DNAH7_ENST00000409063.1_Missense_Mutation_p.P382L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3899 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAGATCAATAGGAATTGTGTA 0.483000 15 20 0 0 0.003163 0 0 NXN 64359 broad.mit.edu 37 17 722783 722783 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:722783G>A ENST00000336868.3 - 5 807 c.716C>T c.(715-717)tCg>tTg p.S239L NXN_ENST00000575801.1_Missense_Mutation_p.S131L|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000538650.1_5'UTR NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 239 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGACTCCTCCGACCTACAGAG 0.617000 18 16 0 0 0.007413 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52390795 52390795 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:52390795C>T ENST00000443374.1 + 0 1488 GGTAAAAATTCCTTTATCTGC 0.488000 4 12 0 0 0.000248 0 0 SIGLEC6 946 broad.mit.edu 37 19 52031489 52031489 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:52031489G>A ENST00000346477.3 - 5 1051 c.983C>T c.(982-984)gCt>gTt p.A328V SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A292V|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A344V|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.A355V|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000391797.3_Intron NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 344 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GACACCACCAGCCCTGCCTTC 0.507000 10 25 0 0 0.001368 0 0 MAP4K4 9448 broad.mit.edu 37 2 102477313 102477313 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:102477313C>T ENST00000425019.1 + 16 1975 c.1638C>T c.(1636-1638)aaC>aaT p.N546N MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000324219.4_Silent_p.N577N|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000347699.4_Silent_p.N577N|MAP4K4_ENST00000350878.4_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000456652.1_Intron NM_145686.3 NP_663719.2 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 577 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.N577K(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGAAAACTAACCACAGCTCCC 0.448000 7 3 0 0 0.000673 0 0 CADPS2 93664 broad.mit.edu 37 7 122019443 122019443 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:122019443G>A ENST00000334010.7 - 23 3781 c.3360C>T c.(3358-3360)atC>atT p.I1120I CADPS2_ENST00000449022.2_Silent_p.I1122I|CADPS2_ENST00000313070.7_Silent_p.I1081I|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.I1081I NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1122 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 ACAGTGAAATGATTTCTTTTA 0.259000 7 19 0 0 0.004482 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106406010 106406010 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:106406010C>T ENST00000390593.2 - 0 98 ACACTGACCCCATGGGAGGCC 0.557000 13 11 0 0 0.001855 0 0 LRRN4CL 221091 broad.mit.edu 37 11 62455825 62455825 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:62455825G>A ENST00000317449.4 - 2 633 c.156C>T c.(154-156)caC>caT p.H52H NM_203422.2 NP_981967.1 Q8ND94 LRN4L_HUMAN LRRN4 C-terminal like 52 integral to membrane cervix(1)|kidney(1) 2 GGTGTCGGCAGTGGTCGTAGT 0.687000 8 18 0 0 0.004482 0 0 KCNA4 3739 broad.mit.edu 37 11 30032383 30032383 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:30032383C>T ENST00000328224.6 - 2 3076 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 615 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ACTCCTTCTTCCATCTCTAGA 0.453000 22 28 0 0 0.001523 0 0 GPR115 221393 broad.mit.edu 37 6 47680130 47680130 + Missense_Mutation SNP C C T rs149916768 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:47680130C>T ENST00000283303.2 + 5 596 c.338C>T c.(337-339)cCa>cTa p.P113L GPR115_ENST00000327753.3_Missense_Mutation_p.P113L|GPR115_ENST00000371220.1_Missense_Mutation_p.P170L NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 113 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GTAGCAGCACCATCTATACCT 0.413000 26 207 0 0 0.006320 0 0 ATP9A 10079 broad.mit.edu 37 20 50226668 50226668 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:50226668G>A ENST00000338821.5 - 24 2872 c.2608C>T c.(2608-2610)Cct>Tct p.P870S ATP9A_ENST00000402822.1_Missense_Mutation_p.P749S|ATP9A_ENST00000311637.5_Missense_Mutation_p.P734S NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 870 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 breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TGATAGAGAGGGACGGAGGCA 0.423000 21 74 0 0 0.003954 0 0 SRPK1 6732 broad.mit.edu 37 6 35825091 35825091 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:35825091G>A ENST00000373825.2 - 13 1852 c.1567C>T c.(1567-1569)Cta>Tta p.L523L SRPK1_ENST00000423325.2_Silent_p.L507L|SRPK1_ENST00000373822.1_Silent_p.L415L Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 523 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 GATCCGATTAGAACTTCCAAG 0.368000 10 43 0 0 0.001368 0 0 ZNF831 128611 broad.mit.edu 37 20 57769544 57769544 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:57769544G>A ENST00000371030.2 + 1 3470 c.3470G>A c.(3469-3471)gGg>gAg p.G1157E NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1157 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TCCCACTCAGGGACGTCCCGG 0.677000 15 50 0 0 0.001216 0 0 PDGFRA 5156 broad.mit.edu 37 4 55138611 55138611 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:55138611G>A ENST00000257290.5 + 9 1619 c.1288G>A c.(1288-1290)Gga>Aga p.G430R FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 430 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTCAACTGGGGGACAGACGGT 0.473000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 24 150 0 0 0.002780 0 0 ITGA8 8516 broad.mit.edu 37 10 15614220 15614220 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:15614220T>C ENST00000378076.3 - 25 2980 c.2627A>G c.(2626-2628)cAg>cGg p.Q876R NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 876 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CTTTATATCCTGTGGATTGAT 0.383000 24 38 0 0 0.006320 0 0 KCNK2 3776 broad.mit.edu 37 1 215259779 215259779 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:215259779A>C ENST00000444842.2 + 2 265 c.115A>C c.(115-117)Acg>Ccg p.T39P KCNK2_ENST00000391894.2_Missense_Mutation_p.T24P|KCNK2_ENST00000391895.2_Missense_Mutation_p.T35P NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 39 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CTCGTTTTCCACGAAACCCAC 0.512000 53 15 0 0 0.003610 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156380 70156380 + Silent SNP G G A rs143921369 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:70156380G>A ENST00000335568.5 + 5 1163 c.1161G>A c.(1159-1161)ggG>ggA p.G387G UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 387 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G387G(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TCTACCATGGGATCCCTATGG 0.428000 61 93 0 0 0.003610 0 0 ZNF17 7565 broad.mit.edu 37 19 57932571 57932571 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57932571C>T ENST00000307658.7 + 4 1980 c.1717C>T c.(1717-1719)Cgg>Tgg p.R573W AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.R571W P17021 ZNF17_HUMAN zinc finger protein 17 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R571W(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CCACCTCATTCGGCACCAAAA 0.403000 16 28 0 0 0.006122 0 0 KIAA0247 9766 broad.mit.edu 37 14 70170167 70170167 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:70170167C>T ENST00000342745.4 + 3 490 c.177C>T c.(175-177)ccC>ccT p.P59P NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 59 Sushi. integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) ACCCCCGGCCCTGCAGAGACC 0.567000 22 29 0 0 0.001882 0 0 CD200R1L 344807 broad.mit.edu 37 3 112545993 112545993 + Nonsense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:112545993C>A ENST00000488794.1 - 6 1052 c.463G>T c.(463-465)Gag>Tag p.E155* CD200R1L_ENST00000398214.1_Nonsense_Mutation_p.E176*|CD200R1L_ENST00000448932.1_Nonsense_Mutation_p.E155* Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 176 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 ATAGATCCCTCTGGGATCCAG 0.507000 10 25 7.48243e-07 1.2724e-06 0.006214 1 0 CSMD3 114788 broad.mit.edu 37 8 113960098 113960098 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:113960098C>T ENST00000297405.5 - 9 1673 c.1429G>A c.(1429-1431)Gga>Aga p.G477R CSMD3_ENST00000352409.3_Missense_Mutation_p.G477R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G437R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G373R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 477 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTAATACCTCCCTCATTTACT 0.289000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 86 0 0 0.004482 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110441657 110441657 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:110441657G>A ENST00000378402.5 + 26 3193 c.3089G>A c.(3088-3090)gGa>gAa p.G1030E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1030 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATGTACTTGGAGACCTACTT 0.328000 HNSCC(38;0.096) 4 37 0 0 0.000602 0 0 ERBB4 2066 broad.mit.edu 37 2 212483927 212483927 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:212483927G>A ENST00000342788.4 - 19 2586 c.2276C>T c.(2275-2277)cCc>cTc p.P759L ERBB4_ENST00000436443.1_Missense_Mutation_p.P759L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P749L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 759 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATTTGCCTTGGGACCAGTTGT 0.368000 TSP Lung(8;0.080) 18 21 0 0 0.001882 0 0 ZNF221 7638 broad.mit.edu 37 19 44471126 44471126 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:44471126C>T ENST00000251269.5 + 6 1800 c.1472C>T c.(1471-1473)tCc>tTc p.S491F ZNF221_ENST00000587682.1_Missense_Mutation_p.S491F|ZNF221_ENST00000592350.1_Missense_Mutation_p.S491F NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) GGCTGGGCCTCCTGTCTTTTG 0.448000 21 27 0 0 0.001882 0 0 LRG1 116844 broad.mit.edu 37 19 4538435 4538435 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:4538435G>A ENST00000306390.6 - 2 1021 c.561C>T c.(559-561)ttC>ttT p.F187F CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 187 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGAGGGTGAAGTTGGCCA 0.617000 52 81 0 0 0.003610 0 0 SPIRE2 84501 broad.mit.edu 37 16 89922062 89922062 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:89922062G>A ENST00000378247.3 + 6 989 c.946G>A c.(946-948)Gac>Aac p.D316N SPIRE2_ENST00000393062.2_Missense_Mutation_p.D316N NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 316 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GCTCATCCTGGACTTTATCCG 0.677000 11 23 0 0 0.002450 0 0 CAPN11 11131 broad.mit.edu 37 6 44149035 44149035 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:44149035G>A ENST00000542245.1 + 19 1954 c.1916G>A c.(1915-1917)tGg>tAg p.W639* CAPN11_ENST00000398776.1_Nonsense_Mutation_p.W639* Q9UMQ6 CAN11_HUMAN calpain 11 639 Domain IV.|EF-hand 1. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AAGATCCTGTGGAAAAAACTC 0.512000 17 70 0 0 0.001882 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349732 103349732 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:103349732C>T ENST00000357421.4 - 2 389 c.209G>A c.(208-210)tGg>tAg p.W70* NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 70 transport integral to membrane|mitochondrial inner membrane ACCTTCATGCCAAAGCTGTCT 0.478000 21 6 0 0 0.001882 0 0 IL20 50604 broad.mit.edu 37 1 207039919 207039919 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:207039919C>T ENST00000367098.1 + 4 679 c.316C>T c.(316-318)Ctc>Ttc p.L106F IL20_ENST00000391930.2_Missense_Mutation_p.L106F|IL20_ENST00000367096.3_Missense_Mutation_p.L106F Q9NYY1 IL20_HUMAN interleukin 20 106 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) CCATTATACTCTCCGGAAGAT 0.502000 246 92 0 0 0.003610 0 0 CLPSL2 389383 broad.mit.edu 37 6 35747255 35747255 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:35747255C>T ENST00000360454.2 + 4 414 c.410C>T c.(409-411)cCt>cTt p.P137L CLPSL2_ENST00000403376.3_3'UTR|CLPSL2_ENST00000481904.1_3'UTR Q6UWE3 CF126_HUMAN colipase-like 2 0 digestion|lipid catabolic process extracellular region enzyme activator activity TCACTGCTCCCTTGGGGCCAT 0.547000 3 6 0 0 0.004672 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475386 52475386 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:52475386G>A ENST00000231721.2 - 7 706 c.707C>T c.(706-708)tCt>tTt p.S236F NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 236 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GTCCTGGTCAGAGTTCTCAGG 0.627000 24 36 0 0 0.003954 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41442004 41442004 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:41442004C>T ENST00000599198.1 + 0 228 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 ATTGGCAGTTCCGAGAGAAAT 0.517000 6 13 0 0 0.003080 0 0 CYP17A1 1586 broad.mit.edu 37 10 104596920 104596920 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:104596920G>A ENST00000369887.3 - 1 370 c.199C>T c.(199-201)Cgt>Tgt p.R67C CYP17A1_ENST00000489268.1_5'UTR NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 67 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GTGCCCATACGAACCGAATAG 0.542000 27 51 0 0 0.002096 0 0 TRAPPC5 126003 broad.mit.edu 37 19 7747303 7747303 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:7747303C>T ENST00000317378.5 + 2 351 c.164C>T c.(163-165)gCc>gTc p.A55V TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.A55V|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.A55V|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.P114S NM_174894.2 NP_777554.1 Q8IUR0 TPPC5_HUMAN trafficking protein particle complex 5 55 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding NS(1)|lung(2) 3 TCGCGCCTGGCCGCGCTGGGC 0.701000 3 0 0 0 0.004672 0 0 PRKCB 5579 broad.mit.edu 37 16 24104231 24104231 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:24104231T>C ENST00000303531.7 + 6 801 c.649T>C c.(649-651)Tgc>Cgc p.C217R PRKCB_ENST00000321728.7_Missense_Mutation_p.C217R|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 217 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AACCATCAAATGCTCCCTCAA 0.468000 23 30 0 0 0.003330 0 0 FLG2 388698 broad.mit.edu 37 1 152324716 152324716 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:152324716C>T ENST00000388718.5 - 3 5618 c.5546G>A c.(5545-5547)gGa>gAa p.G1849E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1849 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGTCTGTCCATGAGTAGT 0.502000 56 175 0 0 0.003610 0 0 PAK4 10298 broad.mit.edu 37 19 39667319 39667319 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:39667319C>T ENST00000599386.1 + 7 1171 c.990C>T c.(988-990)gcC>gcT p.A330A PAK4_ENST00000360442.3_Silent_p.A483A|PAK4_ENST00000358301.3_Silent_p.A483A|PAK4_ENST00000599470.1_Silent_p.A330A|PAK4_ENST00000593690.1_Silent_p.A483A|PAK4_ENST00000435673.2_Silent_p.A483A|PAK4_ENST00000321944.4_Silent_p.A393A NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 483 Protein kinase. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) ACTGGATGGCCCCAGAGCTCA 0.647000 34 96 0 0 0.004289 0 0 IGSF3 3321 broad.mit.edu 37 1 117122046 117122046 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:117122046G>A ENST00000369486.3 - 10 4067 c.3302C>T c.(3301-3303)tCa>tTa p.S1101L IGSF3_ENST00000318837.6_Missense_Mutation_p.S1121L|IGSF3_ENST00000369483.1_Missense_Mutation_p.S1121L NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1101 integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GATGGGGGCTGACTCCTCCTC 0.537000 29 59 0 0 0.002096 0 0 OR6C76 390326 broad.mit.edu 37 12 55820729 55820729 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:55820729G>A ENST00000328314.3 + 1 692 c.692G>A c.(691-693)aGa>aAa p.R231K NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCACAGCAAAGAAAAAAAGCC 0.368000 17 27 0 0 0.006122 0 0 GSE1 23199 broad.mit.edu 37 16 85694852 85694852 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:85694852C>G ENST00000253458.7 + 9 1917 c.1741C>G c.(1741-1743)Ccc>Gcc p.P581A GSE1_ENST00000405402.2_Missense_Mutation_p.P477A|GSE1_ENST00000393243.1_Missense_Mutation_p.P508A NM_014615.2 NP_055430.1 Gse1 coiled-coil protein CCATGCTGCACCCACGGCCCT 0.662000 25 46 0 0 0.003954 0 0 PTPRT 11122 broad.mit.edu 37 20 41306605 41306605 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:41306605G>A ENST00000373198.3 - 7 1289 c.1054C>T c.(1054-1056)Ccc>Tcc p.P352S PTPRT_ENST00000356100.2_Missense_Mutation_p.P352S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P352S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P352S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P352S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P352S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P352S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 352 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.P352A(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCAACATCGGGGTCCAGATGC 0.597000 29 69 0 0 0.007291 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724259 7724259 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:7724259C>T ENST00000303635.7 + 9 1859 c.1652C>T c.(1651-1653)tCc>tTc p.S551F CAMTA1_ENST00000439411.2_Missense_Mutation_p.S551F NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TACTCCTCCTCCGCGGCGGCT 0.667000 T WWTR1 epitheliod hemangioendothelioma 11 38 0 0 0.001368 0 0 TNNI2 7136 broad.mit.edu 37 11 1862718 1862718 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:1862718G>A ENST00000381906.1 + 8 555 c.486G>A c.(484-486)agG>agA p.R162R TNNI2_ENST00000252898.7_Silent_p.R162R|TNNI2_ENST00000381905.3_Silent_p.R162R|TNNI2_ENST00000381911.1_Silent_p.R162R NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 162 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTGACTGGAGGAAGAACATCG 0.642000 15 25 0 0 0.006122 0 0 DHRS7C 201140 broad.mit.edu 37 17 9694460 9694460 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:9694460C>T ENST00000330255.4 - 1 154 c.142G>A c.(142-144)Gga>Aga p.G48R DHRS7C_ENST00000571134.1_Missense_Mutation_p.G48R NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 48 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TTGCCCAGTCCTGAGATGGCA 0.602000 3 4 0 0 0.000248 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033037 82033037 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:82033037G>A ENST00000328945.5 - 3 988 c.861C>T c.(859-861)gtC>gtT p.V287V NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 287 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CAAAGCAGTAGACCAAGGTCA 0.507000 18 38 0 0 0.007413 0 0 MUC4 4585 broad.mit.edu 37 3 195517616 195517616 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:195517616C>T ENST00000463781.3 - 2 1294 c.835G>A c.(835-837)Gag>Aag p.E279K MUC4_ENST00000475231.1_Missense_Mutation_p.E279K|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 284 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 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) GATGATGTCTCCCCTGGGTTT 0.468000 19 54 0 0 0.007413 0 0 P2RY1 5028 broad.mit.edu 37 3 152554131 152554131 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:152554131T>A ENST00000305097.3 + 1 1396 c.560T>A c.(559-561)cTc>cAc p.L187H NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 187 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TCCCCCATCCTCTTCTACTCA 0.532000 23 59 0 0 0.003330 0 0 SYNE1 23345 broad.mit.edu 37 6 152725395 152725395 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:152725395C>A ENST00000367255.5 - 46 7379 c.6778G>T c.(6778-6780)Gat>Tat p.D2260Y SYNE1_ENST00000448038.1_Missense_Mutation_p.D2267Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2260Y|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2297Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2267Y NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2260 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTTTCAGATCATTAACTTTG 0.338000 HNSCC(10;0.0054) 23 46 1.5548e-18 2.65775e-18 0.005443 1 0 GABBR1 2550 broad.mit.edu 37 6 29572283 29572283 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29572283C>T ENST00000377034.4 - 22 3035 c.2700G>A c.(2698-2700)aaG>aaA p.K900K GABBR1_ENST00000377016.4_Silent_p.K838K|GABBR1_ENST00000355973.3_Silent_p.K783K|GABBR1_ENST00000377012.4_Silent_p.K783K|GABBR1_ENST00000376977.3_3'UTR NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 900 Interaction with ATF4 (By similarity). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CAGCAATGATCTTTTCCAGTT 0.562000 52 196 0 0 0.003610 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367188 105367188 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:105367188C>T ENST00000297581.2 + 3 1162 c.1113C>T c.(1111-1113)ttC>ttT p.F371F DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 371 osteoclast differentiation cell surface|integral to membrane|plasma membrane AACCAAAATTCCTTCTATCTG 0.353000 35 79 0 0 0.003271 0 0 FLRT3 23767 broad.mit.edu 37 20 14306424 14306424 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:14306424C>T ENST00000378053.3 - 2 1985 c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.E577K NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 577 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GTGCCAGCTTCTGCATAGTCA 0.428000 39 131 0 0 0.006230 0 0 SCNN1G 6340 broad.mit.edu 37 16 23203737 23203737 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:23203737A>C ENST00000300061.2 + 4 826 c.683A>C c.(682-684)gAg>gCg p.E228A NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 228 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GCCATTCAGGAGTGGTATAAG 0.502000 36 48 0 0 0.004878 0 0 CCDC146 57639 broad.mit.edu 37 7 76871183 76871183 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:76871183G>A ENST00000285871.4 + 4 542 c.415G>A c.(415-417)Gaa>Aaa p.E139K CCDC146_ENST00000431197.1_5'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 139 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TGCAGTGAAGGAAAGAGAGTT 0.373000 21 26 0 0 0.001882 0 0 NEB 4703 broad.mit.edu 37 2 152497159 152497159 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:152497159G>A ENST00000397345.3 - 61 8597 c.8395C>T c.(8395-8397)Cgt>Tgt p.R2799C NEB_ENST00000172853.10_Missense_Mutation_p.R2799C|NEB_ENST00000603639.1_Missense_Mutation_p.R2799C|NEB_ENST00000409198.1_Missense_Mutation_p.R2799C|NEB_ENST00000427231.2_Missense_Mutation_p.R2799C|NEB_ENST00000604864.1_Missense_Mutation_p.R2799C NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2799 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCTGCTTACGATAGCCTTCT 0.433000 22 43 0 0 0.001882 0 0 VPS13C 54832 broad.mit.edu 37 15 62217698 62217698 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:62217698C>T ENST00000261517.5 - 53 6639 c.6566G>A c.(6565-6567)gGa>gAa p.G2189E VPS13C_ENST00000395896.4_Missense_Mutation_p.G2189E|VPS13C_ENST00000249837.3_Missense_Mutation_p.G2146E|VPS13C_ENST00000395898.3_Missense_Mutation_p.G2146E NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2189 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATTTTGCTTTCCTGAAGCCCA 0.284000 3 6 0 0 0.004672 0 0 MYOCD 93649 broad.mit.edu 37 17 12647617 12647617 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:12647617C>T ENST00000425538.1 + 8 1035 c.835C>T c.(835-837)Cct>Tct p.P279S MYOCD_ENST00000343344.4_Missense_Mutation_p.P279S|MYOCD_ENST00000395988.1_Missense_Mutation_p.P183S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 279 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 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) AGAGAAGTCCCCTCCACCTAT 0.557000 13 20 0 0 0.002450 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701519 56701519 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:56701519G>A ENST00000586855.2 - 5 1478 c.1165C>T c.(1165-1167)Cgg>Tgg p.R389W ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R389W A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 389 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 AAGCGCTTCCGACAGAGATCA 0.522000 23 42 0 0 0.001882 0 0 TEX2 55852 broad.mit.edu 37 17 62290858 62290858 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:62290858G>A ENST00000258991.3 - 2 804 c.720C>T c.(718-720)tcC>tcT p.S240S TEX2_ENST00000583097.1_Silent_p.S240S|TEX2_ENST00000584379.1_Silent_p.S240S Q8IWB9 TEX2_HUMAN testis expressed 2 240 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AGTTCAGTTTGGAATCAGGTG 0.507000 20 79 0 0 0.001523 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156698722 156698722 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:156698722C>T ENST00000264424.8 + 4 307 c.225C>T c.(223-225)ttC>ttT p.F75F GUCY1B3_ENST00000513437.1_Silent_p.F7F|GUCY1B3_ENST00000507146.1_Silent_p.F7F|GUCY1B3_ENST00000503520.1_Silent_p.F75F|GUCY1B3_ENST00000505764.1_Silent_p.F55F|GUCY1B3_ENST00000502959.1_Silent_p.F75F|GUCY1B3_ENST00000505154.1_Silent_p.F7F NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 75 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AGATGTTTTTCGTCTTTTGCC 0.353000 32 72 0 0 0.004878 0 0 CHL1 10752 broad.mit.edu 37 3 361522 361522 + Silent SNP C C T rs142096855 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:361522C>T ENST00000256509.2 + 3 705 c.63C>T c.(61-63)ttC>ttT p.F21F CHL1_ENST00000397491.2_Silent_p.F21F NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 21 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TGTTAAAATTCTCAAAAGCAA 0.328000 16 32 0 0 0.007413 0 0 PDZD2 23037 broad.mit.edu 37 5 32000310 32000310 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:32000310C>T ENST00000438447.1 + 5 1575 c.1187C>T c.(1186-1188)tCc>tTc p.S396F PDZD2_ENST00000282493.3_Missense_Mutation_p.S396F O15018 PDZD2_HUMAN PDZ domain containing 2 396 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTCGGGCTCTCCCACGAGGAA 0.532000 45 29 0 0 0.003610 0 0 FAM135B 51059 broad.mit.edu 37 8 139164516 139164516 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:139164516T>G ENST00000395297.1 - 13 2372 c.2202A>C c.(2200-2202)gaA>gaC p.E734D NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 734 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) TTGTGTTACTTTCTGTGTGTC 0.532000 HNSCC(54;0.14) 6 65 0 0 0.001168 0 0 SLC36A1 206358 broad.mit.edu 37 5 150853240 150853240 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:150853240C>T ENST00000243389.3 + 8 953 c.730C>T c.(730-732)Cca>Tca p.P244S SLC36A1_ENST00000520701.1_Missense_Mutation_p.P244S|SLC36A1_ENST00000521925.1_Missense_Mutation_p.P244S NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 244 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TCAGAGGATCCCAGACCCCAG 0.448000 125 178 0 0 0.003610 0 0 PRKCG 5582 broad.mit.edu 37 19 54396328 54396328 + Splice_Site SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54396328A>C ENST00000263431.3 + 8 1190 c.909_splice c.e8+1 p.E303_splice PRKCG_ENST00000540413.1_Splice_Site_p.E303_splice|PRKCG_ENST00000536044.1_Intron|PRKCG_ENST00000542049.1_Splice_Site_p.E190_splice NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 303 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CAGAAGTTTGAGGTACCCAGA 0.597000 8 23 0 0 0.003080 0 0 DNAH7 56171 broad.mit.edu 37 2 196765209 196765209 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:196765209G>A ENST00000312428.6 - 28 4445 c.4345C>T c.(4345-4347)Cgg>Tgg p.R1449W NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1449 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCTACTGTCCGAAAGAGAGCC 0.398000 32 44 0 0 0.001786 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003419 52003419 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:52003419C>T ENST00000291707.3 - 2 618 c.563G>A c.(562-564)gGa>gAa p.G188E SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G70E NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 188 Ig-like V-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GAACCAGGATCCATAAACAGG 0.542000 29 59 0 0 0.002445 0 0 SP100 6672 broad.mit.edu 37 2 231380341 231380341 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:231380341G>A ENST00000264052.5 + 25 2981 c.2626G>A c.(2626-2628)Gat>Aat p.D876N SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 876 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) aaatgaagaagatgaTGATAA 0.338000 9 6 0 0 0.004482 0 0 AGMO 392636 broad.mit.edu 37 7 15240949 15240949 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:15240949A>G ENST00000342526.3 - 13 1468 c.1299T>C c.(1297-1299)gtT>gtC p.V433V NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 433 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TCATGCTTCTAACTCCCCAGA 0.333000 40 50 0 0 0.003610 0 0 DSG3 1830 broad.mit.edu 37 18 29054213 29054213 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:29054213G>A ENST00000257189.4 + 15 2314 c.2231G>A c.(2230-2232)gGa>gAa p.G744E NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 744 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACAGTGTCAGGAGCTGCTTCA 0.537000 15 25 0 0 0.002450 0 0 OR10K2 391107 broad.mit.edu 37 1 158390485 158390485 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:158390485G>A ENST00000314902.2 - 1 171 c.172C>T c.(172-174)Ccc>Tcc p.P58S NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AAGTACATGGGGATATGAAGG 0.493000 65 97 0 0 0.003610 0 0 TRIM55 84675 broad.mit.edu 37 8 67040674 67040674 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:67040674G>A ENST00000315962.4 + 2 677 c.304G>A c.(304-306)Gaa>Aaa p.E102K TRIM55_ENST00000276573.7_Missense_Mutation_p.E102K|TRIM55_ENST00000350034.4_Missense_Mutation_p.E102K|TRIM55_ENST00000353317.5_Missense_Mutation_p.E102K NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 102 E -> G (in Ref. 2; CAC43019/CAC43020). cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CCTGCTGGTGGAAAATATCAT 0.468000 22 205 0 0 0.007291 0 0 SDK1 221935 broad.mit.edu 37 7 4277403 4277403 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:4277403G>A ENST00000404826.2 + 42 6256 c.6117G>A c.(6115-6117)aaG>aaA p.K2039K SDK1_ENST00000389531.3_Silent_p.K2019K|SDK1_ENST00000466611.1_3'UTR NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2039 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGAAGTATAAGAACTGCAGCA 0.592000 20 166 0 0 0.002780 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832752 42832752 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:42832752C>T ENST00000314073.5 + 13 2984 c.2808C>T c.(2806-2808)ggC>ggT p.G936G GLTSCR1L_ENST00000394168.1_Silent_p.G936G GLTSCR1-like GCTCTCCCGGCCCTGAGGGGC 0.537000 14 70 0 0 0.003163 0 0 ZNF606 80095 broad.mit.edu 37 19 58489799 58489799 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:58489799G>A ENST00000341164.4 - 7 2869 c.2249C>T c.(2248-2250)tCc>tTc p.S750F ZNF606_ENST00000536132.1_Missense_Mutation_p.S660F NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AATAATAAGGGAAGAATTCTT 0.373000 51 85 0 0 0.003610 0 0 SC5D 6309 broad.mit.edu 37 11 121178097 121178097 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:121178097C>T ENST00000264027.4 + 5 1150 c.776C>T c.(775-777)tCc>tTc p.S259F SC5D_ENST00000392789.2_Missense_Mutation_p.S259F|SC5D_ENST00000534230.1_Intron NM_006918.4 NP_008849.2 sterol-C5-desaturase AATCCTTCATCCTTTGAGGGG 0.413000 29 35 0 0 0.002445 0 0 AOAH 313 broad.mit.edu 37 7 36616207 36616207 + Silent SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:36616207T>G ENST00000431169.1 - 13 1294 c.994A>C c.(994-996)Agg>Cgg p.R332R AOAH_ENST00000535891.1_Silent_p.R300R|AOAH_ENST00000538464.1_Silent_p.R54R|AOAH_ENST00000258749.5_Silent_p.R332R NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 332 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TGGTAGTCCCTGTGATTACAG 0.303000 38 68 0 0 0.006999 0 0 VANGL1 81839 broad.mit.edu 37 1 116206695 116206695 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:116206695C>T ENST00000355485.2 + 4 889 c.618C>T c.(616-618)gtC>gtT p.V206V VANGL1_ENST00000369509.1_Silent_p.V206V|VANGL1_ENST00000369510.3_Silent_p.V204V|VANGL1_ENST00000310260.3_Silent_p.V206V NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 206 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTTACGGGGTCCGCATTTTGG 0.517000 50 111 0 0 0.003610 0 0 NRROS 375387 broad.mit.edu 37 3 196386840 196386840 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:196386840G>A ENST00000328557.4 + 3 529 c.326G>A c.(325-327)aGc>aAc p.S109N NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CACCTGCGCAGCCTGGTCCTG 0.667000 12 14 0 0 0.001368 0 0 OR2L13 284521 broad.mit.edu 37 1 248263371 248263371 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:248263371G>A ENST00000366478.2 + 3 1031 c.694G>A c.(694-696)Ggg>Agg p.G232R OR2L13_ENST00000358120.2_Missense_Mutation_p.G232R NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CTCAAAGGAGGGGAGAAAAAA 0.433000 26 79 0 0 0.004656 0 0 NMUR1 10316 broad.mit.edu 37 2 232393698 232393698 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:232393698G>A ENST00000305141.4 - 2 167 c.34C>T c.(34-36)Cct>Tct p.P12S NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 12 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) AGGTCTCCAGGGAGGACAGAG 0.567000 6 10 0 0 0.003080 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476006 27476006 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:27476006G>A ENST00000356183.4 - 34 5522 c.5507C>T c.(5506-5508)cCc>cTc p.P1836L GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1836L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1836 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCCCTCCAGGGGTCTGGCCTG 0.677000 15 51 0 0 0.007413 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916189 86916189 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:86916189G>A ENST00000395184.1 + 9 1848 c.1382G>A c.(1381-1383)aGg>aAg p.R461K ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R368K|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R366K NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 461 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CAGGCCAGAAGGAGCTCTTCA 0.517000 18 13 0 0 0.004990 0 0 MOV10L1 54456 broad.mit.edu 37 22 50580509 50580509 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:50580509G>A ENST00000262794.5 + 16 2153 c.e16-1 MOV10L1_ENST00000540615.1_Splice_Site|MOV10L1_ENST00000395858.3_Splice_Site|MOV10L1_ENST00000545383.1_Splice_Site|MOV10L1_ENST00000395843.1_Splice_Site NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) ATAATTTCTAGAATAGGAAAA 0.428000 87 61 0 0 0.003610 0 0 TBC1D8 11138 broad.mit.edu 37 2 101670590 101670590 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:101670590G>A ENST00000409318.1 - 4 741 c.611C>T c.(610-612)tCc>tTc p.S204F TBC1D8_ENST00000376840.4_Missense_Mutation_p.S189F NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 189 GRAM 1. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CAGGAAGAAGGAGTAGAAGCA 0.597000 6 6 0 0 0.001168 0 0 NAV3 89795 broad.mit.edu 37 12 78516075 78516075 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:78516075C>T ENST00000397909.2 + 16 4278 c.4105C>T c.(4105-4107)Ctc>Ttc p.L1369F NAV3_ENST00000228327.6_Missense_Mutation_p.L1369F|NAV3_ENST00000536525.2_Missense_Mutation_p.L1369F|NAV3_ENST00000266692.7_Intron Q8IVL0 NAV3_HUMAN neuron navigator 3 1369 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATGACTAGCCTCCACACGAG 0.567000 HNSCC(70;0.22) 31 48 0 0 0.001786 0 0 WDR91 29062 broad.mit.edu 37 7 134889048 134889048 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:134889048G>A ENST00000354475.4 - 6 894 c.863C>T c.(862-864)tCg>tTg p.S288L WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.S253L|WDR91_ENST00000344400.5_Missense_Mutation_p.S288L NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 288 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 TTTCTTGGCCGAGCTCTGAGG 0.592000 15 27 0 0 0.006122 0 0 LIPF 8513 broad.mit.edu 37 10 90436022 90436022 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:90436022G>A ENST00000394375.3 + 10 1088 c.975G>A c.(973-975)agG>agA p.R325R LIPF_ENST00000355843.2_Silent_p.R282R|LIPF_ENST00000496797.1_3'UTR|LIPF_ENST00000238983.4_Silent_p.R315R NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 315 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TTCAGAATAGGATGCACTATG 0.303000 16 19 0 0 0.007413 0 0 FLT1 2321 broad.mit.edu 37 13 29012445 29012445 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:29012445G>A ENST00000282397.4 - 4 677 c.426C>T c.(424-426)atC>atT p.I142I FLT1_ENST00000541932.1_Silent_p.I142I|FLT1_ENST00000539099.1_Silent_p.I142I NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 142 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TAATTTCGGGGATTTCACTGT 0.373000 9 26 0 0 0.000673 0 0 ADARB1 104 broad.mit.edu 37 21 46596181 46596181 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:46596181C>T ENST00000539173.1 + 4 1000 c.565C>T c.(565-567)Ccc>Tcc p.P189S ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.P189S|ADARB1_ENST00000348831.4_Missense_Mutation_p.P189S|ADARB1_ENST00000360697.3_Missense_Mutation_p.P189S NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 189 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) GGCGGAGCCTCCCTTTTACGT 0.592000 12 20 0 0 0.001368 0 0 DOCK3 1795 broad.mit.edu 37 3 51297628 51297628 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:51297628C>T ENST00000266037.9 + 23 2249 c.2226C>T c.(2224-2226)atC>atT p.I742I NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 742 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGTCACGGATCCTGTACTCAC 0.463000 13 19 0 0 0.003163 0 0 PRKCG 5582 broad.mit.edu 37 19 54386423 54386423 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54386423C>T ENST00000263431.3 + 2 459 c.177C>T c.(175-177)atC>atT p.I59I PRKCG_ENST00000540413.1_Silent_p.I59I|PRKCG_ENST00000536044.1_Silent_p.I59I NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 59 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCAGGGGTATCGGAAAGCAGG 0.647000 22 51 0 0 0.006320 0 0 DKK3 27122 broad.mit.edu 37 11 12023884 12023884 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:12023884C>T ENST00000396505.2 - 3 552 c.314G>A c.(313-315)gGa>gAa p.G105E DKK3_ENST00000525493.1_Missense_Mutation_p.G105E|DKK3_ENST00000450094.2_Missense_Mutation_p.G105E|DKK3_ENST00000326932.4_Missense_Mutation_p.G105E|DKK3_ENST00000527132.1_Intron NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 105 adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space p.G105A(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) GGTATTATTTCCAACCTTCGT 0.463000 22 28 0 0 0.002299 0 0 FREM2 341640 broad.mit.edu 37 13 39425898 39425898 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:39425898G>C ENST00000280481.7 + 11 7034 c.6818G>C c.(6817-6819)aGa>aCa p.R2273T NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2273 Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GTGGTTATAAGAATTCCAGTG 0.443000 28 21 0 0 0.007291 0 0 APRT 353 broad.mit.edu 37 16 88876248 88876248 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:88876248C>T ENST00000378364.3 - 5 445 c.400_splice c.e5-1 p.G134_splice APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Splice_Site_p.G107_splice NM_000485.2 NP_000476.1 P07741 APT_HUMAN adenine phosphoribosyltransferase 134 purine ribonucleoside salvage cytosol|nucleus adenine phosphoribosyltransferase activity|AMP binding|protein binding cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) GTTCATGGTTCCTGGGGATGG 0.667000 6 21 0 0 0.001168 0 0 WNT9B 7484 broad.mit.edu 37 17 44953631 44953631 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:44953631G>A ENST00000393461.2 + 4 674 c.621G>A c.(619-621)agG>agA p.R207R WNT9B_ENST00000290015.2_Silent_p.R207R O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 207 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) GTGGCCTCAGGACCACGTGTA 0.657000 10 19 0 0 0.006214 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560015 44560015 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:44560015G>A ENST00000332567.4 - 1 1973 c.1621C>T c.(1621-1623)Ccg>Tcg p.P541S KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 541 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AGGGCGTCCGGATTGTTTCTA 0.597000 31 29 0 0 0.001512 0 0 PRC1 9055 broad.mit.edu 37 15 91512732 91512732 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:91512732G>A ENST00000361188.5 - 13 2905 c.1694C>T c.(1693-1695)cCc>cTc p.P565L PRC1_ENST00000361919.3_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.P565L|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA O43663 PRC1_HUMAN protein regulator of cytokinesis 1 565 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) GCGCTGGAGGGGGGCCGAGCC 0.537000 149 250 0 0 0.003610 0 0 TNNT2 7139 broad.mit.edu 37 1 201334796 201334796 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:201334796G>A ENST00000509001.1 - 8 492 c.206C>T c.(205-207)tCg>tTg p.S69L TNNT2_ENST00000367315.2_Missense_Mutation_p.S69L|TNNT2_ENST00000367318.5_Missense_Mutation_p.S69L|TNNT2_ENST00000367320.2_Missense_Mutation_p.S78L|TNNT2_ENST00000367322.1_Missense_Mutation_p.S69L|TNNT2_ENST00000360372.4_Missense_Mutation_p.S64L|TNNT2_ENST00000458432.2_Missense_Mutation_p.S81L|TNNT2_ENST00000236918.7_Missense_Mutation_p.S74L|TNNT2_ENST00000421663.2_Missense_Mutation_p.S71L|TNNT2_ENST00000367317.4_Missense_Mutation_p.S69L NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 79 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 GGGCATGAACGACCTGTTGGA 0.567000 26 16 0 0 0.006320 0 0 LMAN2L 81562 broad.mit.edu 37 2 97400219 97400219 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:97400219G>A ENST00000264963.4 - 3 373 c.351C>T c.(349-351)atC>atT p.I117I LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.I117I|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 117 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 CTTGTCCATGGATTTTGAAGT 0.463000 42 54 0 0 0.001951 0 0 CACNA1G 8913 broad.mit.edu 37 17 48674275 48674275 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:48674275G>A ENST00000352832.5 + 15 3552 c.3180G>A c.(3178-3180)atG>atA p.M1060I CACNA1G_ENST00000502264.1_Missense_Mutation_p.M1060I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.M1060I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.M1083I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.M1060I|CACNA1G_ENST00000359106.5_Missense_Mutation_p.M1083I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.M1083I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.M1060I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.M1083I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.M1083I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.M1060I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.M1083I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.M1060I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.M1060I NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1083 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCCACGAGATGAAGTCACCGG 0.682000 3 3 0 0 0.004672 0 0 NPNT 255743 broad.mit.edu 37 4 106863686 106863686 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:106863686C>T ENST00000379987.2 + 8 1202 c.986C>T c.(985-987)cCa>cTa p.P329L NPNT_ENST00000305572.8_Missense_Mutation_p.P329L|NPNT_ENST00000453617.2_Missense_Mutation_p.P346L|NPNT_ENST00000427316.2_Missense_Mutation_p.P359L|NPNT_ENST00000506666.1_Missense_Mutation_p.P359L|NPNT_ENST00000514622.1_Missense_Mutation_p.P329L NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 329 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CCTACTCCACCACCACCACCA 0.517000 14 19 0 0 0.003163 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 50 0 0 0.001984 0 0 TGFBR3 7049 broad.mit.edu 37 1 92195499 92195499 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:92195499C>A ENST00000212355.4 - 6 1065 c.600G>T c.(598-600)ggG>ggT p.G200G TGFBR3_ENST00000370399.2_Silent_p.G200G|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Silent_p.G200G NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 200 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GAAAATTCTTCCCTATGTTGC 0.478000 28 69 9.65021e-13 1.6453e-12 0.002096 1 0 DNAH9 1770 broad.mit.edu 37 17 11593583 11593583 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:11593583C>T ENST00000262442.3 + 20 4512 c.4444C>T c.(4444-4446)Ctg>Ttg p.L1482L DNAH9_ENST00000454412.2_Silent_p.L1482L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1482 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACTTCAGAACCTGGTGATGTC 0.507000 29 40 0 0 0.007291 0 0 RGAG4 340526 broad.mit.edu 37 X 71349749 71349749 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:71349749G>A ENST00000545866.1 - 1 2009 c.1642C>T c.(1642-1644)Cct>Tct p.P548S NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.P548S Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 548 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) AAAAGCACAGGGGGGCGTCTT 0.602000 25 2 0 0 0.003330 0 0 OGG1 4968 broad.mit.edu 37 3 9807638 9807638 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:9807638C>T ENST00000302036.7 + 7 1437 c.1094C>T c.(1093-1095)tCc>tTc p.S365F OGG1_ENST00000349503.5_Missense_Mutation_p.S298F|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000383826.5_3'UTR|CAMK1_ENST00000256460.3_Intron|OGG1_ENST00000449570.2_3'UTR NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 0 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) AGCCTCTCCTCCATTCCCTAT 0.577000 Base excision repair (BER), DNA glycosylases 16 37 0 0 0.006122 0 0 TNN 63923 broad.mit.edu 37 1 175049410 175049410 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:175049410G>A ENST00000239462.4 + 4 1009 c.896G>A c.(895-897)gGg>gAg p.G299E NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 299 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TACCCCCTGGGGAAGGAGCTC 0.577000 16 74 0 0 0.006122 0 0 R3HDM2 22864 broad.mit.edu 37 12 57663588 57663588 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:57663588G>A ENST00000402412.1 - 15 1924 c.1534C>T c.(1534-1536)Cca>Tca p.P512S R3HDM2_ENST00000347140.3_Missense_Mutation_p.P498S|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P225S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P193S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P498S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P225S|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P532S Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 498 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TGAGTAGGTGGTGCATGGCTA 0.547000 21 48 0 0 0.001882 0 0 SCN11A 11280 broad.mit.edu 37 3 38888977 38888977 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:38888977G>A ENST00000302328.3 - 26 4782 c.4584C>T c.(4582-4584)atC>atT p.I1528I SCN11A_ENST00000450244.1_Silent_p.I1528I|SCN11A_ENST00000456224.3_Silent_p.I1490I NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1528 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATATGTCATCGATTCCAGACT 0.443000 14 30 0 0 0.004990 0 0 DMRTA2 63950 broad.mit.edu 37 1 50884876 50884876 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:50884876G>A ENST00000404795.3 - 3 1482 c.1090C>T c.(1090-1092)Cct>Tct p.P364S DMRTA2_ENST00000418121.1_Missense_Mutation_p.P364S NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 364 Ala-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 GGCGCCGCAGGGCCCAGGCCG 0.776000 3 2 0 0 0.004672 0 0 LMX1A 4009 broad.mit.edu 37 1 165175183 165175183 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:165175183G>A ENST00000342310.3 - 8 1288 c.906C>T c.(904-906)atC>atT p.I302I LMX1A_ENST00000294816.2_Silent_p.I302I|LMX1A_ENST00000367893.4_Silent_p.I302I|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 302 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CACTCTGCTCGATGGCCAGGA 0.577000 23 86 0 0 0.002299 0 0 PAX1 5075 broad.mit.edu 37 20 21689305 21689305 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:21689305A>G ENST00000398485.2 + 3 1080 c.1026A>G c.(1024-1026)aaA>aaG p.K342K PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.K318K NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 342 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GGCTAGAGAAACCTGCCTTAG 0.582000 13 60 0 0 0.001855 0 0 SGPP2 130367 broad.mit.edu 37 2 223339404 223339404 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:223339404A>T ENST00000321276.7 + 2 423 c.337A>T c.(337-339)Att>Ttt p.I113F NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 113 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TCACTGGAATATTGACCCTTA 0.348000 20 31 0 0 0.001882 0 0 YEATS4 8089 broad.mit.edu 37 12 69756643 69756643 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:69756643C>T ENST00000247843.2 + 2 397 c.127C>T c.(127-129)Cac>Tac p.H43Y YEATS4_ENST00000548020.1_Missense_Mutation_p.H43Y NM_006530.2 NP_006521.1 O95619 YETS4_HUMAN YEATS domain containing 4 43 YEATS. histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1) 5 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) AGAAGATGGGCACACTCATCA 0.318000 22 66 0 0 0.002299 0 0 GPR85 54329 broad.mit.edu 37 7 112724432 112724432 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:112724432G>C ENST00000501255.2 - 3 968 c.345C>G c.(343-345)atC>atG p.I115M GPR85_ENST00000424100.1_Missense_Mutation_p.I115M|GPR85_ENST00000297146.2_Missense_Mutation_p.I115M|GPR85_ENST00000449591.1_Missense_Mutation_p.I115M NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 115 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 TGGTGACACTGATGCAGAAGA 0.468000 11 21 0 0 0.000673 0 0 DSC3 1825 broad.mit.edu 37 18 28598186 28598186 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:28598186C>T ENST00000434452.1 - 9 1268 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K DSC3_ENST00000360428.4_Missense_Mutation_p.E372K NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 372 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CGTAAGATTTCCACATTGAAT 0.274000 10 30 0 0 0.006214 0 0 SLC16A12 387700 broad.mit.edu 37 10 91222222 91222222 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:91222222C>T ENST00000341233.4 - 3 414 c.24G>A c.(22-24)cgG>cgA p.R8R SLC16A12_ENST00000371790.4_Silent_p.R38R|RP11-168O10.6_ENST00000454270.1_RNA NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 8 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 GGGAGGTAGACCGAGCTCTAT 0.478000 24 52 0 0 0.001512 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28210437 28210437 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:28210437C>G ENST00000284984.2 - 9 2819 c.2365G>C c.(2365-2367)Gag>Cag p.E789Q NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 789 Spacer. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) ATGTCTTGCTCTAAGGTGGAC 0.483000 18 11 0 0 0.006122 0 0 ADCY7 113 broad.mit.edu 37 16 50339720 50339720 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:50339720C>T ENST00000394697.2 + 14 2052 c.1712C>T c.(1711-1713)aCc>aTc p.T571I ADCY7_ENST00000254235.3_Missense_Mutation_p.T571I|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.T571I|ADCY7_ENST00000566433.2_Missense_Mutation_p.T571I P51828 ADCY7_HUMAN adenylate cyclase 7 571 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GACTTCTACACCTTTGGGTCC 0.667000 14 23 0 0 0.004990 0 0 BPIFC 254240 broad.mit.edu 37 22 32853350 32853350 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:32853350G>A ENST00000397452.1 - 2 134 c.24C>T c.(22-24)gtC>gtT p.V8V BPIFC_ENST00000397450.1_Silent_p.V8V|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Silent_p.V8V Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 8 extracellular region lipopolysaccharide binding|phospholipid binding ATCCCCAGAGGACTGGGATTG 0.403000 OREG0003513 type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 25 38 0 0 0.004656 0 0 BTBD11 121551 broad.mit.edu 37 12 108051454 108051454 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:108051454C>T ENST00000280758.5 + 17 3802 c.3274C>T c.(3274-3276)Cag>Tag p.Q1092* BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Q629*|BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Q171*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Q973* NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 1092 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CATCAGAATTCAGTCCATCCA 0.512000 30 73 0 0 0.002445 0 0 BOD1L1 259282 broad.mit.edu 37 4 13605633 13605633 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:13605633G>A ENST00000040738.5 - 10 3026 c.2891C>T c.(2890-2892)cCt>cTt p.P964L NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 964 Lys-rich. DNA binding TTCTTCAAAAGGTTTGTCTTC 0.408000 68 443 0 0 0.003610 0 0 KIAA0513 9764 broad.mit.edu 37 16 85111229 85111229 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:85111229G>A ENST00000566428.1 + 6 1404 c.773G>A c.(772-774)aGg>aAg p.R258K KIAA0513_ENST00000538274.1_Missense_Mutation_p.R258K|KIAA0513_ENST00000258180.3_Missense_Mutation_p.R258K|KIAA0513_ENST00000567328.1_Missense_Mutation_p.R258K O60268 K0513_HUMAN KIAA0513 258 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) CCCCTGGCCAGGAGGAACGAG 0.672000 13 31 0 0 0.001855 0 0 PFAS 5198 broad.mit.edu 37 17 8157260 8157260 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:8157260C>T ENST00000314666.6 + 2 138 c.5C>T c.(4-6)tCc>tTc p.S2F PFAS_ENST00000545834.1_5'UTR NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 2 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCAGAGATGTCCCCAGTCCTT 0.522000 8 10 0 0 0.003080 0 0 FAM83B 222584 broad.mit.edu 37 6 54806377 54806377 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:54806377C>T ENST00000306858.7 + 5 2724 c.2608C>T c.(2608-2610)Cca>Tca p.P870S NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 870 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AACACCTTCTCCAGGTCCAGT 0.433000 13 70 0 0 0.002450 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085700 42085700 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:42085700C>T ENST00000407170.2 + 4 848 c.35C>T c.(34-36)tCc>tTc p.S12F CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000401445.2_Intron|CEACAM21_ENST00000187608.9_Intron Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 0 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 GTCACTCTATCCACAGAGTCA 0.502000 13 52 0 0 0.002450 0 0 CXCR1 3577 broad.mit.edu 37 2 219029795 219029795 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:219029795G>A ENST00000295683.2 - 2 260 c.140C>T c.(139-141)gCc>gTc p.A47V NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 47 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GAACACTAGGGCATAGGCGAT 0.507000 43 68 0 0 0.001951 0 0 VPS8 23355 broad.mit.edu 37 3 184632795 184632795 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:184632795C>T ENST00000287546.4 + 26 2387 c.2216C>T c.(2215-2217)cCc>cTc p.P739L VPS8_ENST00000437079.3_Missense_Mutation_p.P739L|VPS8_ENST00000446204.2_Missense_Mutation_p.P647L|VPS8_ENST00000436792.2_Missense_Mutation_p.P737L NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 739 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CGTGCCTATCCCCTTGGTGAC 0.428000 19 82 0 0 0.001882 0 0 ZNF670 93474 broad.mit.edu 37 1 247200784 247200784 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:247200784G>A ENST00000366503.2 - 4 1295 c.1137C>T c.(1135-1137)tcC>tcT p.S379S NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GCTTTCGAAGGGAACTGGAAC 0.378000 29 76 0 0 0.007291 0 0 LRP1B 53353 broad.mit.edu 37 2 141092073 141092073 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:141092073C>T ENST00000389484.3 - 79 13143 c.12172G>A c.(12172-12174)Gat>Aat p.D4058N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4058 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D4058Y(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTGTACCATCCATGGCTGCT 0.438000 TSP Lung(27;0.18) 16 30 0 0 0.006122 0 0 CATSPERD 257062 broad.mit.edu 37 19 5746029 5746029 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:5746029C>T ENST00000381624.3 + 9 824 c.763C>T c.(763-765)Ctg>Ttg p.L255L CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 255 integral to membrane GAGAGGCATCCTGCTCCTATG 0.587000 69 64 0 0 0.003610 0 0 UBN1 29855 broad.mit.edu 37 16 4926972 4926972 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:4926972C>T ENST00000396658.4 + 15 3828 c.3125C>T c.(3124-3126)tCc>tTc p.S1042F UBN1_ENST00000262376.6_Missense_Mutation_p.S1042F|UBN1_ENST00000545171.1_Missense_Mutation_p.S1042F|UBN1_ENST00000590769.1_Missense_Mutation_p.S1042F NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 1042 Ser-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 AGCTCGAACTCCTTGGGAATT 0.562000 40 75 0 0 0.003214 0 0 FBXO42 54455 broad.mit.edu 37 1 16577532 16577532 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:16577532C>T ENST00000375592.3 - 10 2003 c.1787G>A c.(1786-1788)gGa>gAa p.G596E NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 596 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) CACTGTTTCTCCACTGCTCAA 0.607000 27 53 0 0 0.004656 0 0 APLNR 187 broad.mit.edu 37 11 57003372 57003372 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57003372G>A ENST00000606794.1 - 1 1303 c.1107C>T c.(1105-1107)tcC>tcT p.S369S NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 369 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGTAGGGGATGGATTTCTCGT 0.627000 14 58 0 0 0.004007 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560546 44560546 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:44560546G>A ENST00000332567.4 - 1 1442 c.1090C>T c.(1090-1092)Ctc>Ttc p.L364F KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 364 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACCTCAGAGAGGGAGCTCACG 0.542000 31 35 0 0 0.002836 0 0 CRYBA4 1413 broad.mit.edu 37 22 27024309 27024309 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:27024309G>A ENST00000354760.3 + 5 393 c.358G>A c.(358-360)Gga>Aga p.G120R CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 120 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GGGCAAGAAAGGAGAGCTGAG 0.542000 24 37 0 0 0.003954 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158980415 158980415 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:158980415C>T ENST00000485419.1 + 4 403 c.234C>T c.(232-234)tcC>tcT p.S78S IQCJ_ENST00000397832.2_Silent_p.S78S|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Silent_p.S78S|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.S51S|IQCJ_ENST00000482126.1_Silent_p.S51S|IQCJ-SCHIP1_ENST00000467442.1_3'UTR NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CCTCTGTCTCCTCAGAGAAGC 0.527000 28 58 0 0 0.001512 0 0 THSD7A 221981 broad.mit.edu 37 7 11468645 11468645 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:11468645G>A ENST00000423059.3 - 14 3423 c.3172C>T c.(3172-3174)Cgt>Tgt p.R1058C AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1058 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CATTTAGAACGAACCTTCACA 0.512000 HNSCC(18;0.044) 48 174 0 0 0.003610 0 0 FHOD3 80206 broad.mit.edu 37 18 34335241 34335241 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:34335241G>A ENST00000257209.4 + 22 3989 c.3867G>A c.(3865-3867)gaG>gaA p.E1289E FHOD3_ENST00000359247.4_Silent_p.E1272E|FHOD3_ENST00000590592.1_Silent_p.E1464E|FHOD3_ENST00000445677.1_Silent_p.E1251E|FHOD3_ENST00000591635.1_Silent_p.E485E|FHOD3_ENST00000592128.1_Silent_p.E268E NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1272 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ACCACAGAGAGAGAAATAAGA 0.423000 7 8 0 0 0.003080 0 0 RPL8 6132 broad.mit.edu 37 8 146015848 146015848 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:146015848C>A ENST00000262584.3 - 5 739 c.507G>T c.(505-507)gtG>gtT p.V169V RPL8_ENST00000394920.2_Silent_p.V169V|RPL8_ENST00000528957.1_Silent_p.V169V|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000527914.1_Silent_p.V60V NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 169 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) CACCTCCAGCCACCACACCTG 0.577000 20 128 3.62473e-10 6.16659e-10 0.001882 1 0 TNXB 7148 broad.mit.edu 37 6 32065661 32065661 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32065661G>A ENST00000375244.3 - 2 516 c.315C>T c.(313-315)gtC>gtT p.V105V TNXB_ENST00000375247.2_Silent_p.V105V|TNXB_ENST00000479795.1_Silent_p.V105V P22105 TENX_HUMAN tenascin XB 105 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTCTAGACGGACCCTCAGGG 0.612000 79 720 0 0 0.003610 0 0 ACTN1 87 broad.mit.edu 37 14 69341640 69341640 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:69341640G>A ENST00000193403.6 - 21 2998 c.2615C>T c.(2614-2616)tCc>tTc p.S872F ACTN1_ENST00000376839.3_Missense_Mutation_p.S802F|ACTN1_ENST00000438964.2_Missense_Mutation_p.S867F|ACTN1_ENST00000394419.4_Missense_Mutation_p.S894F|ACTN1_ENST00000538545.2_Missense_Mutation_p.S910F NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 872 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ACCTGGCACGGAGTCGGGGCC 0.662000 18 19 0 0 0.001216 0 0 CCR8 1237 broad.mit.edu 37 3 39374818 39374818 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:39374818G>A ENST00000326306.4 + 2 1134 c.996G>A c.(994-996)agG>agA p.R332R CCR8_ENST00000545843.1_Silent_p.R249R|CCR8_ENST00000414803.1_3'UTR NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 332 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) AAATGCCTAGGGAGAGCTGTG 0.418000 18 61 0 0 0.001216 0 0 PHACTR3 116154 broad.mit.edu 37 20 58330342 58330342 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:58330342G>A ENST00000371015.1 + 4 931 c.464G>A c.(463-465)gGa>gAa p.G155E PHACTR3_ENST00000395639.4_Missense_Mutation_p.G114E|PHACTR3_ENST00000361300.4_Missense_Mutation_p.G114E|PHACTR3_ENST00000355648.4_Missense_Mutation_p.G114E|PHACTR3_ENST00000541461.1_Missense_Mutation_p.G114E|PHACTR3_ENST00000359926.3_Missense_Mutation_p.G152E|PHACTR3_ENST00000395636.2_Missense_Mutation_p.G114E NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 155 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GCCCAGCCCGGAAGCCCCTTG 0.602000 8 22 0 0 0.004482 0 0 COL4A3 1285 broad.mit.edu 37 2 228162489 228162489 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:228162489G>A ENST00000396578.3 + 42 3827 c.3665G>A c.(3664-3666)gGa>gAa p.G1222E AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|COL4A3_ENST00000468753.1_3'UTR NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1222 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCATAGAAGGATTCCCAGGG 0.602000 4 5 0 0 0.000248 0 0 EML5 161436 broad.mit.edu 37 14 89131692 89131692 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:89131692C>T ENST00000554922.1 - 22 3514 c.3266G>A c.(3265-3267)cGa>cAa p.R1089Q EML5_ENST00000352093.5_Missense_Mutation_p.R1051Q|EML5_ENST00000380664.5_Missense_Mutation_p.R1089Q NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1089 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AGGTGAAAATCGAATATCTGA 0.343000 8 11 0 0 0.003080 0 0 OR7D2 162998 broad.mit.edu 37 19 9297116 9297116 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9297116G>A ENST00000344248.2 + 1 838 c.659G>A c.(658-660)cGa>cAa p.R220Q NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 220 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 TCTTATTCACGAATTGCTTCA 0.463000 25 30 0 0 0.003954 0 0 ZNF205 7755 broad.mit.edu 37 16 3166463 3166463 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:3166463C>T ENST00000382192.3 + 5 604 c.399C>T c.(397-399)ctC>ctT p.L133L RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.L133L|RP11-473M20.14_ENST00000576490.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 133 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 CCTTGTACCTCTCCCGGGAGG 0.562000 17 23 0 0 0.001216 0 0 PM20D1 148811 broad.mit.edu 37 1 205817044 205817044 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:205817044G>A ENST00000367136.4 - 2 269 c.225C>T c.(223-225)gcC>gcT p.A75A PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 75 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ACTCAGCCAGGGCTGTAGTAT 0.423000 16 79 0 0 0.007413 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224702 172224702 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:172224702C>T ENST00000420541.2 - 3 368 c.278G>A c.(277-279)aGa>aAa p.R93K TNFSF10_ENST00000241261.2_Silent_p.K142K NM_001190942.1 NP_001177871.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 0 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CCTTTTCATTCTTGGAGTCTG 0.443000 9 17 0 0 0.004482 0 0 JAG1 182 broad.mit.edu 37 20 10629213 10629213 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:10629213G>A ENST00000254958.5 - 12 2068 c.1553C>T c.(1552-1554)tCt>tTt p.S518F JAG1_ENST00000423891.2_Missense_Mutation_p.S359F NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 518 EGF-like 8; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GAGGTTTCCAGAGAAACCAGT 0.507000 Alagille Syndrome 16 59 0 0 0.001216 0 0 DNAJC5 80331 broad.mit.edu 37 20 62560684 62560684 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:62560684C>T ENST00000360864.4 + 3 280 c.127C>T c.(127-129)Cac>Tac p.H43Y DNAJC5_ENST00000369911.2_Missense_Mutation_p.H43Y NM_025219.2 NP_079495.1 Q9H3Z4 DNJC5_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 43 J. neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1) 5 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CTTGAAATATCACCCCGACAA 0.582000 7 21 0 0 0.001984 0 0 MARCO 8685 broad.mit.edu 37 2 119732008 119732008 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:119732008G>A ENST00000541757.1 + 6 706 c.326G>A c.(325-327)gGa>gAa p.G109E MARCO_ENST00000327097.4_Missense_Mutation_p.G187E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 187 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGACGAGATGGAGCAACAGGT 0.592000 10 10 0 0 0.006214 0 0 SIRT4 23409 broad.mit.edu 37 12 120741753 120741753 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:120741753C>T ENST00000202967.4 + 2 448 c.389C>T c.(388-390)aCc>aTc p.T130I SIRT4_ENST00000537892.1_3'UTR NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 130 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTTTGAGCACCTGGGAGAAA 0.597000 13 39 0 0 0.001368 0 0 ZC3H13 23091 broad.mit.edu 37 13 46544079 46544079 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:46544079A>G ENST00000242848.4 - 14 2948 c.2600T>C c.(2599-2601)gTt>gCt p.V867A ZC3H13_ENST00000282007.3_Missense_Mutation_p.V867A Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 867 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) AGGTCGTACAACTTGGCTCAA 0.408000 30 47 0 0 0.007291 0 0 SLC5A9 200010 broad.mit.edu 37 1 48697266 48697266 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:48697266G>A ENST00000236495.5 + 7 785 c.735G>A c.(733-735)atG>atA p.M245I SLC5A9_ENST00000533824.1_Missense_Mutation_p.M241I|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Missense_Mutation_p.M220I NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 220 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CGGTGATCATGGTAGGGGGAG 0.542000 5 35 0 0 0.000602 0 0 KCNV1 27012 broad.mit.edu 37 8 110980497 110980497 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:110980497C>T ENST00000524391.1 - 4 2355 c.1323G>A c.(1321-1323)aaG>aaA p.K441K KCNV1_ENST00000297404.1_Silent_p.K441K Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 441 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CAGCTGCTTCCTTGAGTTTCA 0.428000 37 65 0 0 0.004289 0 0 HELZ 9931 broad.mit.edu 37 17 65082989 65082989 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:65082989G>A ENST00000358691.5 - 32 5616 c.5450C>T c.(5449-5451)cCg>cTg p.P1817L HELZ_ENST00000580168.1_Missense_Mutation_p.P1818L NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCCATTGCACGGAATGTTCTG 0.473000 36 99 0 0 0.006230 0 0 CCDC64 92558 broad.mit.edu 37 12 120502557 120502557 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:120502557G>A ENST00000397558.2 + 4 783 c.783G>A c.(781-783)cgG>cgA p.R261R CCDC64_ENST00000446727.2_Silent_p.R5R NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 261 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGTCAGATCGGAAACGGGAGC 0.557000 44 94 0 0 0.002522 0 0 DDX60 55601 broad.mit.edu 37 4 169196545 169196545 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:169196545C>T ENST00000393743.3 - 16 2546 c.2255G>A c.(2254-2256)aGa>aAa p.R752K NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 752 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TGGGTCTTTTCTCTCATCTCG 0.378000 25 30 0 0 0.003330 0 0 EXOSC10 5394 broad.mit.edu 37 1 11141286 11141286 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:11141286G>A ENST00000544779.1 - 11 1295 c.1290C>T c.(1288-1290)ccC>ccT p.P430P EXOSC10_ENST00000376936.4_Silent_p.P430P|EXOSC10_ENST00000304457.7_Silent_p.P430P|EXOSC10_ENST00000485606.1_5'UTR Q01780 EXOSX_HUMAN exosome component 10 430 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GCATCTCCTCGGGCAGAGGGC 0.532000 29 72 0 0 0.002096 0 0 GLB1 2720 broad.mit.edu 37 3 33038604 33038604 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:33038604G>A ENST00000307363.5 - 16 2111 c.1967C>T c.(1966-1968)cCt>cTt p.P656L GLB1_ENST00000399402.3_Missense_Mutation_p.P626L|GLB1_ENST00000307377.8_Missense_Mutation_p.P525L|GLB1_ENST00000445488.2_Missense_Mutation_p.P704L NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 656 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) TTTTTCAACAGGTTTGGAGGG 0.493000 29 67 0 0 0.001512 0 0 DHX8 1659 broad.mit.edu 37 17 41599556 41599556 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:41599556C>T ENST00000262415.3 + 22 3477 c.3405C>T c.(3403-3405)atC>atT p.I1135I DHX8_ENST00000540306.1_Silent_p.I1135I NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1135 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TGGTCTATATCCATCCTTCCA 0.532000 21 47 0 0 0.002299 0 0 OR2J2 26707 broad.mit.edu 37 6 29142344 29142344 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29142344G>A ENST00000377167.2 + 1 1034 c.932G>A c.(931-933)gGg>gAg p.G311E NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TGGGAGTGGGGGAAGTGACAG 0.423000 22 115 0 0 0.002299 0 0 DNASE1 1773 broad.mit.edu 37 16 3705913 3705913 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:3705913G>A ENST00000246949.5 + 3 3420 c.211G>A c.(211-213)Ggg>Agg p.G71R DNASE1_ENST00000407479.1_Missense_Mutation_p.G71R|DNASE1_ENST00000414110.2_Intron NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 71 apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity lung(1) 1 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) GACTGCCGTGGGGAAGCTGCT 0.622000 22 25 0 0 0.005443 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255082 15255082 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:15255082C>T ENST00000378116.4 - 8 2511 c.2505G>A c.(2503-2505)acG>acA p.T835T NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 835 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TCCGTCTGGTCGTCTCCTCCT 0.637000 37 42 0 0 0.004878 0 0 TRPM3 80036 broad.mit.edu 37 9 73230967 73230967 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:73230967G>A ENST00000377110.2 - 17 2590 c.2347C>T c.(2347-2349)Cct>Tct p.P783S TRPM3_ENST00000377105.1_Missense_Mutation_p.P642S|TRPM3_ENST00000396285.1_Missense_Mutation_p.P630S|TRPM3_ENST00000396292.4_Missense_Mutation_p.P655S|TRPM3_ENST00000408909.2_Missense_Mutation_p.P642S|TRPM3_ENST00000423814.3_Missense_Mutation_p.P810S|TRPM3_ENST00000358082.3_Missense_Mutation_p.P645S|TRPM3_ENST00000357533.2_Missense_Mutation_p.P787S|TRPM3_ENST00000360823.2_Missense_Mutation_p.P645S|TRPM3_ENST00000377106.1_Missense_Mutation_p.P655S|TRPM3_ENST00000396280.5_Missense_Mutation_p.P632S|TRPM3_ENST00000377111.2_Missense_Mutation_p.P783S NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 808 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AGAATTGAAGGAGGAAGTAGA 0.378000 7 21 0 0 0.001984 0 0 PRRT1 80863 broad.mit.edu 37 6 32118480 32118480 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32118480G>A ENST00000211413.5 - 2 347 c.223C>T c.(223-225)Ccc>Tcc p.P75S PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 75 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GAGGAGGAGGGACCGCGCTGA 0.751000 14 143 0 0 0.002450 0 0 XIRP1 165904 broad.mit.edu 37 3 39227497 39227497 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:39227497G>A ENST00000340369.3 - 2 3668 c.3440C>T c.(3439-3441)cCc>cTc p.P1147L XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1147 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGTCCTCACGGGATGAGCGGT 0.622000 23 47 0 0 0.002780 0 0 SERPING1 710 broad.mit.edu 37 11 57367838 57367838 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57367838C>T ENST00000403558.1 + 2 1006 c.640C>T c.(640-642)Cag>Tag p.Q214* SERPING1_ENST00000278407.4_Nonsense_Mutation_p.Q180*|SERPING1_ENST00000340687.6_Nonsense_Mutation_p.Q180*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.Q185*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.Q128* NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 180 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CCTCCTTACCCAGGTCCTGCT 0.512000 30 90 0 0 0.002445 0 0 CACNA1S 779 broad.mit.edu 37 1 201010696 201010696 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:201010696G>A ENST00000362061.3 - 41 5296 c.5070C>T c.(5068-5070)ttC>ttT p.F1690F CACNA1S_ENST00000367338.3_Silent_p.F1671F|RP11-168O16.2_ENST00000415359.1_RNA NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1690 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTCTTCTGGGAACTCCCTTT 0.562000 23 11 0 0 0.005443 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762245 23762245 + Translation_Start_Site SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:23762245C>A ENST00000397312.2 - 0 262 ELAVL2_ENST00000223951.6_De_novo_Start_OutOfFrame|ELAVL2_ENST00000544538.1_De_novo_Start_OutOfFrame|ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000380110.4_Missense_Mutation_p.Q25H NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CAGCAATTACCTGCTAAAAAC 0.393000 71 54 3.98911e-17 6.813e-17 0.003610 1 0 HTT 3064 broad.mit.edu 37 4 3101017 3101017 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:3101017C>T ENST00000355072.5 + 3 509 c.364C>T c.(364-366)Cag>Tag p.Q122* NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 122 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TCCAGAATTTCAGAAACTTCT 0.433000 82 80 0 0 0.003610 0 0 DEPDC5 9681 broad.mit.edu 37 22 32211046 32211046 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:32211046C>T ENST00000400246.1 + 21 1656 c.1514C>T c.(1513-1515)tCc>tTc p.S505F DEPDC5_ENST00000266091.3_Missense_Mutation_p.S505F|DEPDC5_ENST00000536766.1_Missense_Mutation_p.S477F|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S505F|DEPDC5_ENST00000400242.3_Missense_Mutation_p.S505F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S505F|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S505F|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S505F|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S505F|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S505F O75140 DEPD5_HUMAN DEP domain containing 5 505 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TCCAGCCCTTCCCTACCAAGC 0.552000 18 56 0 0 0.007413 0 0 DNAH1 25981 broad.mit.edu 37 3 52384572 52384572 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:52384572C>T ENST00000420323.2 + 16 2956 c.2695C>T c.(2695-2697)Ctc>Ttc p.L899F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 899 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGATGAATTCCTCTACAACCT 0.562000 10 16 0 0 0.001368 0 0 GLRX3 10539 broad.mit.edu 37 10 131958313 131958313 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:131958313C>T ENST00000368644.1 + 3 278 c.256C>T c.(256-258)Ccc>Tcc p.P86S GLRX3_ENST00000331244.5_Missense_Mutation_p.P86S NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 86 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) TAGCTCTGTTCCCACTTTTCT 0.358000 39 65 0 0 0.002522 0 0 ANTXR1 84168 broad.mit.edu 37 2 69397402 69397402 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:69397402C>T ENST00000303714.4 + 14 1392 c.1070C>T c.(1069-1071)cCc>cTc p.P357L ANTXR1_ENST00000409349.3_Missense_Mutation_p.P357L NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 357 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 GTCCCTCCACCCCCTGCCGAG 0.557000 Familial Infantile Hemangioma 11 32 0 0 0.000978 0 0 FAM13C 220965 broad.mit.edu 37 10 61022203 61022203 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:61022203C>T ENST00000373867.3 - 11 1443 c.978G>A c.(976-978)gaG>gaA p.E326E FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Silent_p.E430E|FAM13C_ENST00000435852.2_Silent_p.E409E|FAM13C_ENST00000442566.3_Silent_p.E430E|FAM13C_ENST00000468840.2_Silent_p.E326E|FAM13C_ENST00000422313.2_Silent_p.E409E|FAM13C_ENST00000373868.2_Silent_p.E409E NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 409 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCTTAGAATCCTCCTGGGGAG 0.517000 13 17 0 0 0.004007 0 0 DSG3 1830 broad.mit.edu 37 18 29046600 29046600 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:29046600C>T ENST00000257189.4 + 11 1602 c.1519C>T c.(1519-1521)Cct>Tct p.P507S NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 507 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGTTCTTCACCTTCCGTGGT 0.448000 35 55 0 0 0.003271 0 0 ANTXR1 84168 broad.mit.edu 37 2 69397403 69397403 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:69397403C>T ENST00000303714.4 + 14 1393 c.1071C>T c.(1069-1071)ccC>ccT p.P357P ANTXR1_ENST00000409349.3_Silent_p.P357P NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 357 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 TCCCTCCACCCCCTGCCGAGG 0.557000 Familial Infantile Hemangioma 11 32 0 0 0.000978 0 0 TYROBP 7305 broad.mit.edu 37 19 36398155 36398155 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:36398155T>C ENST00000585901.2 - 4 352 c.334A>G c.(334-336)Aaa>Gaa p.K112E TYROBP_ENST00000262629.4_Missense_Mutation_p.K81E|TYROBP_ENST00000424586.3_Missense_Mutation_p.K69E|TYROBP_ENST00000589517.1_Missense_Mutation_p.K80E|TYROBP_ENST00000544690.2_Missense_Mutation_p.K70E O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 81 axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1) 8 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATACGCTGTTTCCGGGTCGCT 0.542000 5 16 0 0 0.001168 0 0 CAPN13 92291 broad.mit.edu 37 2 30987150 30987150 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:30987150G>A ENST00000295055.8 - 6 723 c.547C>T c.(547-549)Ctg>Ttg p.L183L CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Silent_p.L183L NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 183 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CCATAGTGCAGATCGGAATAG 0.582000 7 24 0 0 0.003080 0 0 VPS13C 54832 broad.mit.edu 37 15 62217696 62217696 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:62217696T>C ENST00000261517.5 - 53 6641 c.6568A>G c.(6568-6570)Aag>Gag p.K2190E VPS13C_ENST00000395896.4_Missense_Mutation_p.K2190E|VPS13C_ENST00000249837.3_Missense_Mutation_p.K2147E|VPS13C_ENST00000395898.3_Missense_Mutation_p.K2147E NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2190 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATATTTTGCTTTCCTGAAGCC 0.284000 3 5 0 0 0.004672 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093719 43093719 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:43093719C>T ENST00000244336.5 - 3 694 c.593G>A c.(592-594)aGg>aAg p.R198K CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 198 Ig-like C2-type 1. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) AGTGAGGGTCCTGTTGCCATT 0.522000 54 87 0 0 0.003610 0 0 IARS 3376 broad.mit.edu 37 9 94984883 94984883 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:94984883C>T ENST00000375643.3 - 33 3891 c.3625G>A c.(3625-3627)Ggt>Agt p.G1209S IARS_ENST00000443024.2_Missense_Mutation_p.G1209S|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.G1099S NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 1209 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TACAGAAGACCTTGGTGGGTG 0.498000 73 102 0 0 0.003610 0 0 STAB2 55576 broad.mit.edu 37 12 104014257 104014257 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:104014257G>A ENST00000388887.2 + 4 547 c.343G>A c.(343-345)Gga>Aga p.G115R NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 115 EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTGCCCAGGTGGAGCGGGGTC 0.488000 5 8 0 0 0.001168 0 0 OR2A2 442361 broad.mit.edu 37 7 143807593 143807593 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:143807593G>A ENST00000408979.2 + 1 987 c.918G>A c.(916-918)agG>agA p.R306R NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CACTCCAGAGGAAGAGGTCCA 0.433000 34 37 0 0 0.002836 0 0 EGR1 1958 broad.mit.edu 37 5 137803292 137803292 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:137803292C>T ENST00000239938.4 + 2 1426 c.1154C>T c.(1153-1155)aCc>aTc p.T385I NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 385 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CACCTCACCACCCACATCCGC 0.602000 11 58 0 0 0.000978 0 0 SVEP1 79987 broad.mit.edu 37 9 113173765 113173765 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:113173765G>A ENST00000401783.2 - 37 6562 c.6226C>T c.(6226-6228)Ccc>Tcc p.P2076S SVEP1_ENST00000297826.5_Missense_Mutation_p.P2S|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2053S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2076 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATACAACGGGGCATGTCTTGA 0.483000 23 2 0 0 0.001882 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208798 140208798 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140208798G>A ENST00000529310.1 + 1 1236 c.1122G>A c.(1120-1122)gtG>gtA p.V374V PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.V374V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATTAGCGTGAACGACCTCG 0.498000 81 111 0 0 0.003610 0 0 TTBK1 84630 broad.mit.edu 37 6 43226884 43226884 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43226884C>T ENST00000259750.4 + 11 1208 c.1125C>T c.(1123-1125)ccC>ccT p.P375P TTBK1_ENST00000304139.5_Silent_p.P324P NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 375 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CAATTCTGCCCGGGAGGCCCT 0.647000 19 104 0 0 0.001882 0 0 OR2J2 26707 broad.mit.edu 37 6 29141898 29141898 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29141898C>T ENST00000377167.2 + 1 588 c.486C>T c.(484-486)tcC>tcT p.S162S NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TTCATTCCTCCTTTACTTTCT 0.468000 61 430 0 0 0.003610 0 0 FSCN1 6624 broad.mit.edu 37 7 5633104 5633104 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:5633104C>T ENST00000382361.3 + 1 651 c.537C>T c.(535-537)ctC>ctT p.L179L FSCN1_ENST00000340250.6_Silent_p.L158L NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 179 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) TCATCACCCTCGCCTTCCAGG 0.736000 23 92 0 0 0.003954 0 0 ZNF211 10520 broad.mit.edu 37 19 58152834 58152834 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:58152834G>A ENST00000544273.1 + 5 1343 c.1016G>A c.(1015-1017)aGc>aAc p.S339N ZNF211_ENST00000541801.1_Missense_Mutation_p.S318N|ZNF211_ENST00000391703.3_Missense_Mutation_p.S266N|ZNF211_ENST00000347302.3_Missense_Mutation_p.S327N|ZNF211_ENST00000254182.7_Missense_Mutation_p.S318N|ZNF211_ENST00000420680.1_Missense_Mutation_p.S331N|ZNF211_ENST00000299871.5_Missense_Mutation_p.S392N|ZNF211_ENST00000240731.4_Missense_Mutation_p.S340N Q13398 ZN211_HUMAN zinc finger protein 211 327 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGATATACAGCCTCAATAGC 0.438000 8 34 0 0 0.004482 0 0 SGMS2 166929 broad.mit.edu 37 4 108817049 108817049 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:108817049C>T ENST00000394684.4 + 3 897 c.340C>T c.(340-342)Cca>Tca p.P114S SGMS2_ENST00000394686.3_Missense_Mutation_p.P114S|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.P114S NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 114 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) CCCTCCACTCCCAGACAAGTT 0.423000 15 47 0 0 0.004007 0 0 IL6R 3570 broad.mit.edu 37 1 154403047 154403047 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:154403047C>T ENST00000368485.3 + 3 860 c.423C>T c.(421-423)tcC>tcT p.S141S IL6R_ENST00000344086.4_Silent_p.S141S NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 141 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCACCCCATCCCTGACGACAA 0.592000 30 17 0 0 0.002096 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858655 9858655 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:9858655C>T ENST00000396573.2 - 14 3055 c.2746G>A c.(2746-2748)Gac>Aac p.D916N GRIN2A_ENST00000396575.2_Missense_Mutation_p.D916N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D916N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D916N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D759N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D916N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 916 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGGGTGAGTCCATTCTTGAG 0.458000 58 85 0 0 0.003610 0 0 RPE65 6121 broad.mit.edu 37 1 68912499 68912499 + Missense_Mutation SNP G G A rs61752865 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:68912499G>A ENST00000262340.5 - 3 192 c.139C>T c.(139-141)Cca>Tca p.P47S NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 47 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 AAGAGTCCTGGCCCACATCGA 0.517000 28 35 0 0 0.002096 0 0 CABP2 51475 broad.mit.edu 37 11 67287268 67287268 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:67287268G>A ENST00000294288.4 - 6 702 c.633C>T c.(631-633)ttC>ttT p.F211F CABP2_ENST00000353903.5_Silent_p.F154F NM_016366.2 NP_057450.2 Q9NPB3 CABP2_HUMAN calcium binding protein 2 211 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 GGGTACCTTCGAAGTCGACCA 0.642000 45 70 0 0 0.003610 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390710 61390710 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:61390710G>A ENST00000544088.1 + 0 1318 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CGGCCAAAAAGCTGTTCACAC 0.483000 8 13 0 0 0.003080 0 0 FASTKD5 60493 broad.mit.edu 37 20 3127866 3127866 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:3127866C>T ENST00000380266.3 - 2 2172 c.1851G>A c.(1849-1851)agG>agA p.R617R UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 617 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 CATGCTCAAGCCTTAATTTGG 0.438000 32 120 0 0 0.002096 0 0 SPAM1 6677 broad.mit.edu 37 7 123594331 123594331 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:123594331G>A ENST00000340011.5 + 3 1064 c.707G>A c.(706-708)gGa>gAa p.G236E SPAM1_ENST00000460182.1_Missense_Mutation_p.G236E|SPAM1_ENST00000402183.2_Missense_Mutation_p.G236E|SPAM1_ENST00000439500.1_Missense_Mutation_p.G236E|SPAM1_ENST00000223028.7_Missense_Mutation_p.G236E NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 236 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGTTACAATGGAAGTTGCTTC 0.368000 24 35 0 0 0.002780 0 0 VCAN 1462 broad.mit.edu 37 5 82834173 82834173 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:82834173G>A ENST00000265077.3 + 8 5916 c.5351G>A c.(5350-5352)aGg>aAg p.R1784K VCAN_ENST00000343200.5_Missense_Mutation_p.R797K|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1784 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGTCTGAAAGGGAAATGACA 0.398000 18 91 0 0 0.001216 0 0 CHST12 55501 broad.mit.edu 37 7 2473276 2473276 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2473276C>T ENST00000258711.6 + 2 1137 c.1002C>T c.(1000-1002)atC>atT p.I334I NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 334 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CGTGCCAGATCGACTACGACT 0.657000 10 101 0 0 0.000673 0 0 GSTP1 2950 broad.mit.edu 37 11 67353922 67353922 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:67353922C>T ENST00000398606.3 + 7 756 c.507C>T c.(505-507)ggC>ggT p.G169G GSTP1_ENST00000398603.1_Silent_p.G133G|GSTP1_ENST00000498765.1_3'UTR NM_000852.3 NP_000843.1 P09211 GSTP1_HUMAN glutathione S-transferase pi 1 169 GST C-terminal. G -> D (in dbSNP:rs41462048). anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1) 9 Ethacrynic acid(DB00903)|Glutathione(DB00143) TAGCCCCTGGCTGCCTGGATG 0.647000 19 62 0 0 0.002299 0 0 JSRP1 126306 broad.mit.edu 37 19 2252382 2252382 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:2252382C>T ENST00000300961.5 - 7 1006 c.942G>A c.(940-942)gaG>gaA p.E314E JSRP1_ENST00000586471.1_Silent_p.E314E NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 314 Arg-rich. sarcoplasmic reticulum membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 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) GCCGCTGCTCCTCGTCGGGAC 0.761000 5 3 0 0 0.000602 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767584 143767584 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:143767584T>G ENST00000419275.1 - 1 297 c.265A>C c.(265-267)Atc>Ctc p.I89L NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 89 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 TGCTTTCGGATGAGGTTCTCA 0.468000 22 85 0 0 0.002780 0 0 C7 730 broad.mit.edu 37 5 40955588 40955588 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:40955588G>A ENST00000313164.9 + 10 1552 c.1193G>A c.(1192-1194)gGa>gAa p.G398E NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 398 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AATCCTGCTGGAAACAAAAGG 0.458000 97 49 0 0 0.003610 0 0 E4F1 1877 broad.mit.edu 37 16 2284186 2284186 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:2284186G>C ENST00000301727.4 + 10 1438 c.1390G>C c.(1390-1392)Gcc>Ccc p.A464P E4F1_ENST00000564139.1_Missense_Mutation_p.A464P|E4F1_ENST00000565090.1_Intron NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 464 Interaction with BMI1.|Mediates interaction with CDKN2A. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GAGGCCGTTCGCCTGCGCGCA 0.706000 10 18 0 0 0.000673 0 0 KLC4 89953 broad.mit.edu 37 6 43041663 43041663 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43041663C>T ENST00000394056.2 + 16 2264 c.1769C>T c.(1768-1770)tCc>tTc p.S590F KLC4_ENST00000479388.1_Missense_Mutation_p.S590F|KLC4_ENST00000453940.2_Missense_Mutation_p.S513F|KLC4_ENST00000347162.5_Missense_Mutation_p.S590F|KLC4_ENST00000394058.1_Missense_Mutation_p.S590F|KLC4_ENST00000259708.3_Missense_Mutation_p.S608F Q9NSK0 KLC4_HUMAN kinesin light chain 4 590 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) CGAGCAGCCTCCTTGAACTAT 0.527000 22 120 0 0 0.004656 0 0 FSCB 84075 broad.mit.edu 37 14 44974376 44974376 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:44974376C>T ENST00000340446.4 - 1 2106 c.1815G>A c.(1813-1815)gaG>gaA p.E605E NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 605 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CAGCAGGAGCCTCTTCTGCAG 0.597000 12 13 0 0 0.001368 0 0 CXorf21 80231 broad.mit.edu 37 X 30578040 30578040 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:30578040G>A ENST00000378962.3 - 3 755 c.433C>T c.(433-435)Ccc>Tcc p.P145S NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 145 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 CTCTCAGAGGGAAAATCTGTT 0.433000 22 4 0 0 0.002299 0 0 ACOX1 51 broad.mit.edu 37 17 73945587 73945587 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:73945587G>A ENST00000537812.1 - 11 2107 c.1459C>T c.(1459-1461)Cga>Tga p.R487* ACOX1_ENST00000293217.5_Nonsense_Mutation_p.R525*|ACOX1_ENST00000301608.4_Nonsense_Mutation_p.R525* NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 525 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TCACTTGCTCGAACAAGGTCA 0.423000 15 72 0 0 0.003163 0 0 LINC00482 284185 broad.mit.edu 37 17 79279528 79279528 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:79279528G>A ENST00000332012.5 - 0 368 NR_038080.1 gaaccagggggagctggaaag 0.622000 10 2 0 0 0.000673 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026739 176026739 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:176026739C>A ENST00000303991.4 - 2 274 c.97G>T c.(97-99)Ggg>Tgg p.G33W NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 33 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCAGGCTCCCATCCTGTGGG 0.647000 5 73 0.000602214 0.00101792 0.000602 1 0 TRPA1 8989 broad.mit.edu 37 8 72966005 72966005 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:72966005G>A ENST00000262209.4 - 13 1834 c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 543 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TCATCCAGGCGATCTGTGCAC 0.478000 7 47 0 0 0.004482 0 0 MROH7 374977 broad.mit.edu 37 1 55136553 55136553 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:55136553C>T ENST00000414150.2 + 7 1828 c.1550C>T c.(1549-1551)tCc>tTc p.S517F MROH7_ENST00000421030.2_Missense_Mutation_p.S517F|MROH7_ENST00000454855.2_Missense_Mutation_p.S35F|MROH7_ENST00000545244.1_Missense_Mutation_p.S85F|MROH7_ENST00000395690.2_Missense_Mutation_p.S517F|MROH7_ENST00000409996.1_Missense_Mutation_p.S85F|MROH7_ENST00000339553.5_Missense_Mutation_p.S517F maestro heat-like repeat family member 7 TCCCTGCCCTCCGTGCAGGCG 0.652000 8 6 0 0 0.000673 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570692 47570692 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:47570692G>A ENST00000253048.5 - 15 2870 c.2833C>T c.(2833-2835)Ccc>Tcc p.P945S ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 945 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGGTGCCCGGGGAGTGGGTCC 0.682000 43 66 0 0 0.003610 0 0 TNXB 7148 broad.mit.edu 37 6 32023726 32023726 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32023726G>A ENST00000375244.3 - 24 8570 c.8369C>T c.(8368-8370)aCc>aTc p.T2790I TNXB_ENST00000375247.2_Missense_Mutation_p.T2790I P22105 TENX_HUMAN tenascin XB 2848 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCCCCCACGGTGACCTCGCT 0.682000 156 719 0 0 0.003610 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150621114 150621114 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:150621114G>A ENST00000271732.3 - 5 585 c.541C>T c.(541-543)Ctg>Ttg p.L181L GOLPH3L_ENST00000540514.1_Silent_p.L137L NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like 181 Golgi cisterna membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TCAAATAGCAGGAAATTCTGC 0.418000 50 17 0 0 0.003610 0 0 TNXB 7148 broad.mit.edu 37 6 32047071 32047071 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32047071C>T ENST00000375244.3 - 11 4315 c.4114G>A c.(4114-4116)Gag>Aag p.E1372K TNXB_ENST00000375247.2_Missense_Mutation_p.E1372K P22105 TENX_HUMAN tenascin XB 1459 Fibronectin type-III 6. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGAGCGGCTCCTCGGGGGAC 0.637000 59 602 0 0 0.003610 0 0 SCGB3A2 117156 broad.mit.edu 37 5 147258400 147258400 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:147258400A>G ENST00000296694.4 + 1 127 c.34A>G c.(34-36)Atc>Gtc p.I12V SCGB3A2_ENST00000514688.1_Intron|SCGB3A2_ENST00000504320.1_Intron NM_054023.4 NP_473364.1 Q96PL1 SG3A2_HUMAN secretoglobin, family 3A, member 2 12 extracellular region binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGACCATCAGCCTTTG 0.373000 79 103 0 0 0.003610 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956602 73956602 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:73956602G>A ENST00000358602.4 - 29 6859 c.6743C>T c.(6742-6744)cCc>cTc p.P2248L ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1997L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2135L NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2248 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAATGGTAAGGGGGCACTGAA 0.463000 61 91 0 0 0.003610 0 0 SLC17A8 246213 broad.mit.edu 37 12 100751232 100751232 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:100751232G>A ENST00000323346.5 + 1 376 c.63G>A c.(61-63)gtG>gtA p.V21V SLC17A8_ENST00000392989.3_Silent_p.V21V NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 21 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 AGGAAGGAGTGAAGAACGCCG 0.408000 19 66 0 0 0.001523 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202124 140202124 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140202124C>T ENST00000529859.1 + 1 764 c.764C>T c.(763-765)cCa>cTa p.P255L PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P255L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P255L NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAATGCACCAAGTGGGACA 0.358000 16 87 0 0 0.004007 0 0 MX2 4600 broad.mit.edu 37 21 42767611 42767611 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:42767611G>A ENST00000330714.3 + 7 1153 c.969G>A c.(967-969)atG>atA p.M323I MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 323 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AGGGCTACATGATTGTGAAGT 0.488000 17 28 0 0 0.001216 0 0 GLI2 2736 broad.mit.edu 37 2 121708851 121708851 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:121708851C>T ENST00000452319.1 + 4 347 c.287C>T c.(286-288)tCt>tTt p.S96F GLI2_ENST00000361492.4_Missense_Mutation_p.S96F|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 96 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCTGTCATCTCTGACATCTCC 0.642000 37 65 0 0 0.001951 0 0 DNAH12 201625 broad.mit.edu 37 3 57494215 57494215 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:57494215G>A ENST00000351747.2 - 7 775 c.595C>T c.(595-597)Caa>Taa p.Q199* DNAH12_ENST00000311202.6_Nonsense_Mutation_p.Q199*|DNAH12_ENST00000389536.4_Nonsense_Mutation_p.Q199* NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 199 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 GAGAATATTTGATTTCTTGCC 0.353000 19 32 0 0 0.007413 0 0 XPR1 9213 broad.mit.edu 37 1 180853152 180853152 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:180853152C>T ENST00000367590.4 + 15 2239 c.2041C>T c.(2041-2043)Cgt>Tgt p.R681C XPR1_ENST00000367589.3_Missense_Mutation_p.R616C NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 681 integral to plasma membrane G-protein coupled receptor activity p.R681C(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 ATCCAAGGCTCGTGACACTAA 0.378000 22 69 0 0 0.003330 0 0 MGRN1 23295 broad.mit.edu 37 16 4701967 4701967 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:4701967C>T ENST00000399577.5 + 3 304 c.211C>T c.(211-213)Ccc>Tcc p.P71S MGRN1_ENST00000262370.7_Missense_Mutation_p.P71S|MGRN1_ENST00000415496.1_Missense_Mutation_p.P71S|MGRN1_ENST00000586183.1_Missense_Mutation_p.P71S|MGRN1_ENST00000588994.1_Missense_Mutation_p.P71S NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 71 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CTCCTAGTTTCCCTACGTCAC 0.612000 13 40 0 0 0.004990 0 0 CPT1C 126129 broad.mit.edu 37 19 50203940 50203940 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:50203940G>A ENST00000392518.4 + 5 653 c.e5-1 CPT1C_ENST00000323446.5_Splice_Site|CPT1C_ENST00000405931.2_Splice_Site|CPT1C_ENST00000354199.5_Splice_Site|CPT1C_ENST00000598293.1_Splice_Site NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TCTCCCCGCAGGGGTGGACAA 0.662000 37 41 0 0 0.006999 0 0 GPX6 257202 broad.mit.edu 37 6 28472169 28472169 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:28472169C>T ENST00000361902.1 - 5 615 c.566G>A c.(565-567)gGg>gAg p.G189E GPX6_ENST00000474923.1_Missense_Mutation_p.G156S NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 189 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TCCATCGGGCCCCACCAGAAA 0.522000 21 85 0 0 0.001523 0 0 RTP4 64108 broad.mit.edu 37 3 187089093 187089093 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:187089093C>T ENST00000259030.2 + 2 783 c.673C>T c.(673-675)Cca>Tca p.P225S NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 225 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AGACCCAGATCCACTGAACAT 0.428000 13 27 0 0 0.001855 0 0 TTC8 123016 broad.mit.edu 37 14 89307837 89307837 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:89307837C>T ENST00000338104.6 + 5 580 c.528C>T c.(526-528)tcC>tcT p.S176S TTC8_ENST00000536576.1_Intron|TTC8_ENST00000345383.5_Silent_p.S176S|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000380656.2_Silent_p.S186S Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 186 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CAAAGTATTCCCAGAAACCTA 0.308000 21 43 0 0 0.002299 0 0 ANKMY2 57037 broad.mit.edu 37 7 16649313 16649313 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:16649313G>A ENST00000306999.2 - 7 1067 c.824C>T c.(823-825)cCt>cTt p.P275L NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 275 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TTCACAGTAAGGAAATTTTCT 0.393000 39 59 0 0 0.006230 0 0 PCED1B 91523 broad.mit.edu 37 12 47630108 47630108 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:47630108G>A ENST00000546455.1 + 4 1993 c.1262G>A c.(1261-1263)aGa>aAa p.R421K PCED1B_ENST00000432328.1_Missense_Mutation_p.R421K PC-esterase domain containing 1B CCTTCAAAGAGAAGGGCCCCA 0.562000 4 12 0 0 0.000248 0 0 TSPAN8 7103 broad.mit.edu 37 12 71519134 71519134 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:71519134A>C ENST00000393330.2 - 12 1246 c.694T>G c.(694-696)Tgc>Ggc p.C232G TSPAN8_ENST00000247829.3_Missense_Mutation_p.C232G|TSPAN8_ENST00000552128.1_Missense_Mutation_p.C149G|TSPAN8_ENST00000546561.1_Missense_Mutation_p.C232G P19075 TSN8_HUMAN tetraspanin 8 232 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) CCGATCTGGCAATACAGGACC 0.353000 98 238 0 0 0.003610 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88918036 88918036 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:88918036G>A ENST00000277141.6 - 26 4350 c.1926C>T c.(1924-1926)atC>atT p.I642I ZCCHC6_ENST00000375960.2_Silent_p.I1117I|ZCCHC6_ENST00000375957.1_Silent_p.I253I|ZCCHC6_ENST00000375963.3_Silent_p.I1353I|ZCCHC6_ENST00000375961.2_Silent_p.I1315I Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1353 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TGAAGTGTCCGATTTTTCCAC 0.348000 52 71 0 0 0.003610 0 0 GPR97 222487 broad.mit.edu 37 16 57719662 57719662 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:57719662G>A ENST00000333493.4 + 11 1525 c.1364G>A c.(1363-1365)tGg>tAg p.W455* GPR97_ENST00000450388.3_Nonsense_Mutation_p.W335*|GPR97_ENST00000327655.6_Nonsense_Mutation_p.W245*|RP11-405F3.4_ENST00000563062.1_RNA NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 455 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTGGTGGTCTGGAAGATCTTC 0.597000 14 25 0 0 0.001855 0 0 PUF60 22827 broad.mit.edu 37 8 144899816 144899816 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:144899816G>A ENST00000526683.1 - 9 1509 c.954C>T c.(952-954)ctC>ctT p.L318L PUF60_ENST00000349157.6_Silent_p.L301L|PUF60_ENST00000313352.7_Silent_p.L258L|PUF60_ENST00000453551.2_Silent_p.L275L|PUF60_ENST00000456095.2_Silent_p.L289L|PUF60_ENST00000527197.1_Silent_p.L272L|PUF60_ENST00000524570.1_5'UTR NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 318 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGGCAGGTGGGAGGCCTCCAG 0.662000 41 77 0 0 0.003610 0 0 FGD3 89846 broad.mit.edu 37 9 95738957 95738957 + Missense_Mutation SNP C C T rs71496423 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:95738957C>T ENST00000375482.3 + 3 915 c.419C>T c.(418-420)cCc>cTc p.P140L FGD3_ENST00000337352.6_Missense_Mutation_p.P140L|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Missense_Mutation_p.P140L NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 140 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GAGAACACCCCCCAGAAGGCT 0.647000 12 12 0 0 0.002450 0 0 FMN2 56776 broad.mit.edu 37 1 240371666 240371666 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:240371666C>T ENST00000319653.9 + 5 3784 c.3554C>T c.(3553-3555)cCt>cTt p.P1185L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1185 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GTGGGAATACCTCCTCCGCCC 0.682000 10 1 0 0 0.001855 0 0 SGPP2 130367 broad.mit.edu 37 2 223386515 223386515 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:223386515G>A ENST00000321276.7 + 3 494 c.408G>A c.(406-408)aaG>aaA p.K136K NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 136 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) AAGTGGCCAAGGATGTCTTGA 0.468000 26 50 0 0 0.005443 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011388 34011388 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:34011388G>A ENST00000382499.2 - 31 3861 c.3862C>T c.(3862-3864)Ccg>Tcg p.P1288S SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1202S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P1233S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1249S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1288S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1249 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GAAGACTGCGGAGGAAAAGCA 0.493000 26 83 0 0 0.006320 0 0 PLAA 9373 broad.mit.edu 37 9 26920318 26920318 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:26920318A>C ENST00000397292.3 - 8 1521 c.1104T>G c.(1102-1104)agT>agG p.S368R PLAA_ENST00000520884.1_Missense_Mutation_p.S368R NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 368 PFU. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) CTTCACTAACACTCCACTGAT 0.383000 18 31 0 0 0.001216 0 0 EPPK1 83481 broad.mit.edu 37 8 144946741 144946741 + Silent SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:144946741G>T ENST00000525985.1 - 2 752 c.681C>A c.(679-681)gcC>gcA p.A227A P58107 EPIPL_HUMAN epiplakin 1 227 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) GGGGCAGCAAGGCTAGCCCCG 0.667000 5 24 1.23904e-05 2.10337e-05 0.000602 1 0 FAM180A 389558 broad.mit.edu 37 7 135418972 135418972 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:135418972G>A ENST00000338588.3 - 3 538 c.273C>T c.(271-273)acC>acT p.T91T FAM180A_ENST00000415751.1_Silent_p.T91T NM_205855.3 NP_995327.1 Q6UWF9 F180A_HUMAN family with sequence similarity 180, member A 91 extracellular region p.T91T(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 TGTTGCAGACGGTGCGGAAGT 0.587000 33 70 0 0 0.003755 0 0 CYBB 1536 broad.mit.edu 37 X 37668882 37668882 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:37668882G>A ENST00000378588.4 + 12 1591 c.1524G>A c.(1522-1524)aaG>aaA p.K508K TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.K241K|CYBB_ENST00000545017.1_Silent_p.K476K NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 508 electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 TGAAACAAAAGACTTTGTATG 0.423000 9 0 0 0 0.004482 0 0 MYO18B 84700 broad.mit.edu 37 22 26242163 26242163 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:26242163G>A ENST00000335473.7 + 19 3715 c.3465G>A c.(3463-3465)caG>caA p.Q1155Q MYO18B_ENST00000407587.2_Silent_p.Q1156Q|MYO18B_ENST00000536101.1_Silent_p.Q1155Q NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1155 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGGCCCTGCAGAGGAGCCGCA 0.672000 7 12 0 0 0.001984 0 0 ACKR2 1238 broad.mit.edu 37 3 42906718 42906718 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:42906718C>T ENST00000422265.1 + 3 899 c.724C>T c.(724-726)Ccc>Tcc p.P242S ACKR2_ENST00000273145.2_Missense_Mutation_p.P242S|ACKR2_ENST00000442925.1_Missense_Mutation_p.P242S|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 GAGGCTGAGGCCCGCAGGCCA 0.537000 43 116 0 0 0.003214 0 0 ZNF48 197407 broad.mit.edu 37 16 30410153 30410153 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:30410153C>T ENST00000320159.2 + 2 1958 c.1582C>T c.(1582-1584)Cct>Tct p.P528S NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 528 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 ACCCATGGCCCCTCGACCCCG 0.657000 22 26 0 0 0.002780 0 0 GABRE 2564 broad.mit.edu 37 X 151130954 151130954 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:151130954G>A ENST00000393914.3 - 5 727 c.8C>T c.(7-9)tCa>tTa p.S3L GABRE_ENST00000370328.3_Silent_p.I168I|GABRE_ENST00000370325.1_Silent_p.I168I P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 0 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGGGCATGGTGATCTCATGCT 0.483000 31 4 0 0 0.001786 0 0 SLC17A6 57084 broad.mit.edu 37 11 22397614 22397614 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:22397614G>A ENST00000263160.3 + 10 1698 c.1261G>A c.(1261-1263)Gga>Aga p.G421R NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 421 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity p.G421*(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ACTTGCAGTGGGATTCAGTGG 0.398000 59 87 0 0 0.003610 0 0 CNPPD1 27013 broad.mit.edu 37 2 220038093 220038093 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:220038093G>A ENST00000409789.1 - 8 1096 c.669C>T c.(667-669)tcC>tcT p.S223S CNPPD1_ENST00000360507.5_Silent_p.S223S Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 223 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 GCTGGCAGAGGGAGCCCAGGG 0.622000 19 29 0 0 0.001882 0 0 TLR8 51311 broad.mit.edu 37 X 12939932 12939932 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:12939932G>A ENST00000218032.6 + 2 2860 c.2773G>A c.(2773-2775)Gga>Aga p.G925R TLR8_ENST00000311912.5_Missense_Mutation_p.G943R NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 925 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTGGGATCCGGGATTGGCCAT 0.433000 38 4 0 0 0.003214 0 0 TRANK1 9881 broad.mit.edu 37 3 36874255 36874255 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:36874255G>A ENST00000429976.2 - 21 6934 c.6687C>T c.(6685-6687)ttC>ttT p.F2229F TRANK1_ENST00000428977.2_Silent_p.F1679F|TRANK1_ENST00000301807.6_Silent_p.F1679F O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2229 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AATGCTTAGGGAAAAGGACAT 0.368000 36 72 0 0 0.004289 0 0 C6orf165 154313 broad.mit.edu 37 6 88144610 88144610 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:88144610G>A ENST00000507897.1 + 11 1416 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K C6ORF165_ENST00000369562.4_Missense_Mutation_p.E445K Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 445 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AAAATATAAAGAAAAATATTA 0.264000 5 13 0 0 0.000602 0 0 AFF3 3899 broad.mit.edu 37 2 100167982 100167982 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:100167982G>A ENST00000317233.4 - 24 3870 c.3635C>T c.(3634-3636)tCc>tTc p.S1212F AFF3_ENST00000356421.2_Missense_Mutation_p.S1237F|AFF3_ENST00000409236.1_Missense_Mutation_p.S1212F|AFF3_ENST00000409579.1_Missense_Mutation_p.S1237F NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1212 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GCCCTGTTGGGAGTACTGGAC 0.592000 10 17 0 0 0.000673 0 0 DZIP1L 199221 broad.mit.edu 37 3 137783575 137783575 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:137783575C>T ENST00000327532.2 - 15 2399 c.2037G>A c.(2035-2037)gaG>gaA p.E679E NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 679 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 CTAGCTGCTTCTCCAGGTTTT 0.517000 129 322 0 0 0.003610 0 0 ABCC8 6833 broad.mit.edu 37 11 17436131 17436131 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:17436131G>A ENST00000302539.4 - 19 2446 c.2321C>T c.(2320-2322)tCg>tTg p.S774L ABCC8_ENST00000389817.3_Missense_Mutation_p.S773L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 773 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGGTTTCTGCGAAGCATAGGC 0.547000 108 141 0 0 0.003610 0 0 GDPD2 54857 broad.mit.edu 37 X 69646512 69646512 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:69646512C>T ENST00000453994.2 + 7 838 c.477C>T c.(475-477)ttC>ttT p.F159F GDPD2_ENST00000538649.1_Silent_p.F80F|GDPD2_ENST00000374382.3_Silent_p.F159F|GDPD2_ENST00000536730.1_Silent_p.F80F|GDPD2_ENST00000472623.1_Intron NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 159 glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) CAGCCCCATTCCTTCATATTG 0.607000 7 0 0 0 0.003080 0 0 ARID1A 8289 broad.mit.edu 37 1 27087520 27087520 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:27087520C>T ENST00000324856.7 + 5 2465 c.2094C>T c.(2092-2094)tcC>tcT p.S698S ARID1A_ENST00000457599.2_Silent_p.S698S|ARID1A_ENST00000374152.2_Silent_p.S315S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 698 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTTCCCCGTCCCCTGTTGGCT 0.607000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 21 41 0 0 0.002299 0 0 KIF21B 23046 broad.mit.edu 37 1 200969679 200969679 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:200969679C>T ENST00000332129.2 - 11 1840 c.1524G>A c.(1522-1524)cgG>cgA p.R508R KIF21B_ENST00000461742.2_Silent_p.R508R|KIF21B_ENST00000422435.2_Silent_p.R508R|KIF21B_ENST00000360529.5_Silent_p.R508R NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 508 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TAGCCGAGGCCCGTGAGAGGC 0.662000 18 65 0 0 0.001882 0 0 LYST 1130 broad.mit.edu 37 1 235904728 235904728 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:235904728G>A ENST00000389794.3 - 31 8526 c.8352C>T c.(8350-8352)tcC>tcT p.S2784S LYST_ENST00000389793.2_Silent_p.S2784S Q99698 LYST_HUMAN lysosomal trafficking regulator 2784 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTACTTGTAGGGATGGGCTGA 0.373000 23 125 0 0 0.006320 0 0 XIRP2 129446 broad.mit.edu 37 2 168105581 168105581 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:168105581A>T ENST00000409195.1 + 9 7768 c.7679A>T c.(7678-7680)aAa>aTa p.K2560I XIRP2_ENST00000295237.9_Missense_Mutation_p.K2560I|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2338I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2385 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAATTGAAAAACAGAAACAG 0.303000 45 43 0 0 0.002852 0 0 FCER1A 2205 broad.mit.edu 37 1 159273800 159273800 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159273800G>A ENST00000368115.1 + 4 258 c.159G>A c.(157-159)ggG>ggA p.G53G FCER1A_ENST00000368114.1_Intron NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 53 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CATGTAATGGGAACAATTTCT 0.368000 21 65 0 0 0.002299 0 0 TAF1L 138474 broad.mit.edu 37 9 32631360 32631360 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:32631360G>A ENST00000242310.4 - 1 4307 c.4218C>T c.(4216-4218)tcC>tcT p.S1406S NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1406 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ACTCCAGGATGGATGACAGCG 0.448000 68 103 0 0 0.003610 0 0 MAGEA5 4104 broad.mit.edu 37 X 151284219 151284219 + RNA SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:151284219G>T ENST00000509345.2 - 0 192 GGTGATCCTGGTCAGCCTGTC 0.537000 6 0 0.00116845 0.00197332 0.001168 1 0 CDC14B 8555 broad.mit.edu 37 9 99296774 99296774 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:99296774G>A ENST00000375241.1 - 8 1129 c.678C>T c.(676-678)gcC>gcT p.A226A CDC14B_ENST00000375242.3_Silent_p.A189A|CDC14B_ENST00000463569.1_Silent_p.A226A|CDC14B_ENST00000375236.1_Silent_p.A226A|CDC14B_ENST00000265659.2_Silent_p.A226A|CDC14B_ENST00000375240.3_Silent_p.A226A NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 226 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) GTCCACAGAAGGCAATAAATC 0.348000 14 24 0 0 0.004990 0 0 IL31 386653 broad.mit.edu 37 12 122658709 122658709 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:122658709T>G ENST00000377035.1 - 1 37 c.11A>C c.(10-12)cAc>cCc p.H4P NM_001014336.1 NP_001014358.1 Q6EBC2 IL31_HUMAN interleukin 31 4 extracellular space cytokine activity central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) GATACCTGAGTGAGAGGCCAT 0.577000 10 32 0 0 0.001855 0 0 CKMT1A 548596 broad.mit.edu 37 15 43990946 43990946 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:43990946C>T ENST00000413453.2 + 8 1643 c.1119C>T c.(1117-1119)gaC>gaT p.D373D CKMT1A_ENST00000434505.1_Silent_p.D373D|STRC_ENST00000541030.1_Intron P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A 373 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) CTAATTTGGACCGACTAGGCA 0.507000 42 55 0 0 0.003610 0 0 GRIK3 2899 broad.mit.edu 37 1 37285408 37285408 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:37285408G>A ENST00000373091.3 - 12 1818 c.1802C>T c.(1801-1803)tCc>tTc p.S601F GRIK3_ENST00000373093.4_Missense_Mutation_p.S601F NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 601 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CACCACCTCGGAGCCAGGGTT 0.577000 7 12 0 0 0.003080 0 0 PREX1 57580 broad.mit.edu 37 20 47267430 47267430 + Splice_Site SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:47267430A>C ENST00000396220.1 - 23 2840 c.e23+1 PREX1_ENST00000371941.3_Splice_Site Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCACGCAGGCACCTCCTGGTA 0.567000 15 24 0 0 0.004007 0 0 KCNG1 3755 broad.mit.edu 37 20 49621209 49621209 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:49621209C>T ENST00000371571.4 - 3 1194 c.909G>A c.(907-909)ctG>ctA p.L303L RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 303 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CCAGGTCGATCAGCGTCAGCG 0.677000 4 10 0 0 0.000602 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123165332 123165332 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:123165332G>A ENST00000349780.4 - 34 5238 c.5059C>T c.(5059-5061)Ctc>Ttc p.L1687F CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L1646F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L1655F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L1608F NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1687 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 TTCCCAGAGAGTGGAGGAGTC 0.522000 14 28 0 0 0.003163 0 0 KLHL22 84861 broad.mit.edu 37 22 20812259 20812259 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:20812259G>A ENST00000328879.4 - 5 1297 c.1141C>T c.(1141-1143)Cag>Tag p.Q381* KLHL22_ENST00000440659.2_Nonsense_Mutation_p.Q238* NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 381 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GACTGGATCTGGAACCAGCGG 0.597000 10 26 0 0 0.000978 0 0 CDHR5 53841 broad.mit.edu 37 11 617422 617422 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:617422C>T ENST00000358353.3 - 16 2789 c.2467G>A c.(2467-2469)Gat>Aat p.D823N CDHR5_ENST00000349570.7_Missense_Mutation_p.D629N|CDHR5_ENST00000397542.2_Missense_Mutation_p.D823N Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 823 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TCGCCCTCATCGCCGCTGCCG 0.692000 4 5 0 0 0.000602 0 0 NRIP2 83714 broad.mit.edu 37 12 2936809 2936809 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:2936809C>T ENST00000337508.4 - 5 775 c.735G>A c.(733-735)caG>caA p.Q245Q ITFG2_ENST00000542548.1_Intron NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 245 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AAAGCAGAGTCTGCAGGCCCA 0.522000 63 113 0 0 0.003610 0 0 KRT79 338785 broad.mit.edu 37 12 53217696 53217696 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:53217696C>T ENST00000330553.5 - 6 1155 c.1121G>A c.(1120-1122)gGg>gAg p.G374E NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 374 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATCAGCCTCCCCCTGCAGCCT 0.612000 16 22 0 0 0.004990 0 0 SH2D7 646892 broad.mit.edu 37 15 78393523 78393523 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:78393523G>A ENST00000328828.5 + 5 928 c.928G>A c.(928-930)Gag>Aag p.E310K SH2D7_ENST00000409568.2_Missense_Mutation_p.E174K NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 310 endometrium(2)|kidney(2)|lung(3) 7 GGGTCCCACAGAGTCTCCCAC 0.612000 5 9 0 0 0.000602 0 0 PGD 5226 broad.mit.edu 37 1 10464303 10464303 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:10464303C>T ENST00000538557.1 + 5 621 c.377C>T c.(376-378)cCa>cTa p.P126L PGD_ENST00000270776.8_Missense_Mutation_p.P139L|PGD_ENST00000541529.1_Missense_Mutation_p.P117L P52209 6PGD_HUMAN phosphogluconate dehydrogenase 139 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CGGTATGGCCCATCGCTCATG 0.552000 14 49 0 0 0.004990 0 0 SDK1 221935 broad.mit.edu 37 7 4273011 4273011 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:4273011G>A ENST00000404826.2 + 41 6091 c.5952G>A c.(5950-5952)gcG>gcA p.A1984A SDK1_ENST00000389531.3_Silent_p.A1964A|SDK1_ENST00000466611.1_3'UTR NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1984 Fibronectin type-III 13. cell adhesion integral to membrane p.A1984A(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGAATGAGGCGGGCTACGGGG 0.617000 17 154 0 0 0.007413 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67220397 67220397 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:67220397G>A ENST00000282670.2 + 2 184 c.56G>A c.(55-57)gGg>gAg p.G19E TCTEX1D1_ENST00000491611.1_3'UTR NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 19 large_intestine(2)|lung(10)|skin(1) 13 AAGAAAAGAGGGAGTATTTCT 0.353000 14 10 0 0 0.003163 0 0 C6orf15 29113 broad.mit.edu 37 6 31079678 31079678 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31079678C>T ENST00000259870.3 - 2 461 c.458G>A c.(457-459)gGg>gAg p.G153E NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 153 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 AGAAGACTCCCCAGGCAAAGG 0.647000 17 135 0 0 0.004990 0 0 BAI3 577 broad.mit.edu 37 6 69772857 69772857 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:69772857G>A ENST00000370598.1 + 16 3186 c.2365G>A c.(2365-2367)Gtg>Atg p.V789M NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 789 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) CAAAATCATCGTGGTCACAAT 0.368000 31 2 0 0 0.002836 0 0 SPOCD1 90853 broad.mit.edu 37 1 32279600 32279600 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:32279600G>A ENST00000360482.2 - 2 1464 c.1335C>T c.(1333-1335)tcC>tcT p.S445S SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.S445S|SPOCD1_ENST00000373648.2_Silent_p.S445S NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 445 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGTCCTGGTGGGAGTTGTCTG 0.572000 26 75 0 0 0.006320 0 0 ZNF790 388536 broad.mit.edu 37 19 37310048 37310048 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:37310048C>A ENST00000356725.4 - 5 1318 c.1198G>T c.(1198-1200)Ggg>Tgg p.G400W CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TAGGCTTTCCCACATTTCTCA 0.403000 29 67 9.39395e-14 1.60231e-13 0.006320 1 0 NADK 65220 broad.mit.edu 37 1 1696731 1696731 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:1696731G>A ENST00000344463.4 - 2 336 c.115C>T c.(115-117)Cgg>Tgg p.R39W NADK_ENST00000341426.5_Missense_Mutation_p.R39W|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000378625.1_Missense_Mutation_p.R39W|NADK_ENST00000341991.3_Missense_Mutation_p.R39W O95544 NADK_HUMAN NAD kinase 39 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GCCCGGCCCCGGATGGGGTGG 0.577000 27 66 0 0 0.006320 0 0 IL16 3603 broad.mit.edu 37 15 81600992 81600992 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:81600992C>T ENST00000394660.2 + 19 4209 c.3849C>T c.(3847-3849)atC>atT p.I1283I IL16_ENST00000394652.2_Silent_p.I583I|IL16_ENST00000302987.4_Silent_p.I1284I|RP11-761I4.4_ENST00000607019.1_RNA NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 1284 PDZ 4. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GAGATGAAATCTTACAGCTGG 0.517000 24 34 0 0 0.005443 0 0 LAS1L 81887 broad.mit.edu 37 X 64743512 64743512 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:64743512G>A ENST00000374811.3 - 11 1416 c.1376C>T c.(1375-1377)tCc>tTc p.S459F LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.S442F|LAS1L_ENST00000374804.5_Missense_Mutation_p.S400F NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 459 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 CCAGTCAAGGGAGGCGGAGCA 0.577000 4 1 0 0 0.000248 0 0 LOC645166 645166 broad.mit.edu 37 1 148932815 148932815 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:148932815C>T ENST00000539543.1 + 0 71 NR_027355.1 AGCTAGCCCGCCAGGCCTCCA 0.597000 12 145 0 0 0.000978 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466519 46466519 + Silent SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:46466519G>T ENST00000328306.4 - 17 2071 c.2046C>A c.(2044-2046)tcC>tcA p.S682S SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 682 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 CCAGACTCGTGGAGGCGGTGT 0.597000 10 1 6.40141e-05 0.000108389 0.000978 1 0 GPR161 23432 broad.mit.edu 37 1 168066078 168066078 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:168066078A>T ENST00000367838.1 - 5 1080 c.767T>A c.(766-768)tTt>tAt p.F256Y GPR161_ENST00000537209.1_Missense_Mutation_p.F276Y|GPR161_ENST00000539777.1_Missense_Mutation_p.F178Y|GPR161_ENST00000361697.2_Missense_Mutation_p.F256Y|GPR161_ENST00000367835.1_Missense_Mutation_p.F256Y|GPR161_ENST00000367836.1_Missense_Mutation_p.F124Y|GPR161_ENST00000271357.5_Missense_Mutation_p.F256Y|GPR161_ENST00000546300.1_Missense_Mutation_p.F142Y NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 256 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CACACCCTGAAAGGCATTCCT 0.597000 48 153 0 0 0.003610 0 0 C8A 731 broad.mit.edu 37 1 57349320 57349320 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:57349320C>T ENST00000361249.3 + 6 917 c.821C>T c.(820-822)tCa>tTa p.S274L NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 274 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CAAGACACTTCATTCTTGAAC 0.403000 9 18 0 0 0.000978 0 0 XPOT 11260 broad.mit.edu 37 12 64815032 64815032 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:64815032C>T ENST00000332707.5 + 9 1390 c.861C>T c.(859-861)ttC>ttT p.F287F NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 287 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) ATGTTGACTTCCTGGCCAGAT 0.363000 41 98 0 0 0.002852 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347571 38347571 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:38347571G>A ENST00000273173.4 + 1 145 c.54G>A c.(52-54)agG>agA p.R18R SLC22A14_ENST00000448498.1_Silent_p.R18R NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 18 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) ATGCTTCCAGGAACTTGAACC 0.522000 37 99 0 0 0.005524 0 0 TTN 7273 broad.mit.edu 37 2 179448460 179448460 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179448460C>G ENST00000589042.1 - 312 65673 c.65449G>C c.(65449-65451)Gaa>Caa p.E21817Q TTN_ENST00000359218.5_Missense_Mutation_p.E12877Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12944Q|TTN_ENST00000591111.1_Missense_Mutation_p.E20176Q|TTN_ENST00000460472.2_Missense_Mutation_p.E12752Q|TTN_ENST00000342992.6_Missense_Mutation_p.E19249Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20176 Fibronectin type-III 58. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGTACTCTTCCTGGGGAATC 0.458000 10 9 0 0 0.000673 0 0 SERPINB9 5272 broad.mit.edu 37 6 2890624 2890624 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:2890624C>T ENST00000380698.4 - 7 993 c.904G>A c.(904-906)Gca>Aca p.A302T NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 302 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) GCTGACATTGCCGACAAGTCA 0.502000 26 157 0 0 0.004656 0 0 DAAM2 23500 broad.mit.edu 37 6 39847148 39847148 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:39847148C>T ENST00000538976.1 + 14 1922 c.1740C>T c.(1738-1740)ccC>ccT p.P580P DAAM2_ENST00000274867.4_Silent_p.P580P|DAAM2_ENST00000398904.2_Silent_p.P580P NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 580 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TGGGCCTGCCCCTCCCTCAGG 0.662000 5 66 0 0 0.000602 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310222 75310222 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:75310222C>T ENST00000361900.6 + 6 512 c.305C>T c.(304-306)tCc>tTc p.S102F SCAMP5_ENST00000568081.1_Missense_Mutation_p.S35F|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000562212.1_Missense_Mutation_p.S102F|SCAMP5_ENST00000545456.1_Missense_Mutation_p.S31F|SCAMP5_ENST00000425597.3_Missense_Mutation_p.S102F NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 102 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 ACTGACAGCTCCTTCAGTTTC 0.592000 23 50 0 0 0.003954 0 0 FAM193A 8603 broad.mit.edu 37 4 2648484 2648484 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:2648484C>A ENST00000324666.5 + 5 714 c.363C>A c.(361-363)tcC>tcA p.S121S FAM193A_ENST00000382839.3_Silent_p.S121S|FAM193A_ENST00000505311.1_Silent_p.S121S|FAM193A_ENST00000502458.1_Silent_p.S121S|FAM193A_ENST00000545951.1_Silent_p.S121S NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 121 p.S121S(1) NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ACCAGCGTTCCGAGGAGGAGC 0.597000 6 217 3.59834e-05 6.10321e-05 0.001168 1 0 PLEKHA4 57664 broad.mit.edu 37 19 49364693 49364693 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:49364693G>A ENST00000263265.6 - 5 886 c.331C>T c.(331-333)Ccg>Tcg p.P111S PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P111S NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 111 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGGGCTCCCGGCCCATCTGGT 0.612000 34 50 0 0 0.007835 0 0 TBX6 6911 broad.mit.edu 37 16 30102231 30102231 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:30102231G>A ENST00000553607.1 - 2 894 c.201C>T c.(199-201)ccC>ccT p.P67P TBX6_ENST00000279386.2_Silent_p.P67P|TBX6_ENST00000395224.2_Silent_p.P67P O95947 TBX6_HUMAN T-box 6 67 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 GGGGCAGAAGGGGCAGAGGTG 0.667000 11 18 0 0 0.000978 0 0 OR4N5 390437 broad.mit.edu 37 14 20612129 20612129 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:20612129C>T ENST00000333629.1 + 1 235 c.235C>T c.(235-237)Ccc>Tcc p.P79S NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CATTGTGGTTCCCAGGATGTT 0.478000 69 83 0 0 0.003610 0 0 CHRM5 1133 broad.mit.edu 37 15 34356426 34356426 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:34356426G>A ENST00000383263.5 + 3 2178 c.1508G>A c.(1507-1509)aGg>aAg p.R503K CHRM5_ENST00000557872.1_Missense_Mutation_p.R503K NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 503 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) AGAACCTTCAGGAAGACCTTT 0.483000 27 10 0 0 0.007291 0 0 STON2 85439 broad.mit.edu 37 14 81744729 81744729 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:81744729C>T ENST00000555447.1 - 6 1338 c.926G>A c.(925-927)tGg>tAg p.W309* STON2_ENST00000267540.2_Nonsense_Mutation_p.W309* NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 309 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) GGTTGCCCTCCAAGGTGAAGC 0.512000 36 49 0 0 0.003755 0 0 AP3B2 8120 broad.mit.edu 37 15 83345327 83345327 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:83345327C>T ENST00000261722.3 - 14 1758 c.1551G>A c.(1549-1551)agG>agA p.R517R RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.R485R|AP3B2_ENST00000535359.1_Silent_p.R517R NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 517 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CAGGTGCAATCCTGGGGACAT 0.527000 24 14 0 0 0.003954 0 0 LACC1 144811 broad.mit.edu 37 13 44463057 44463057 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:44463057C>T ENST00000441843.1 + 5 1557 c.1072C>T c.(1072-1074)Cct>Tct p.P358S LACC1_ENST00000325686.6_Missense_Mutation_p.P358S NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 358 TAATCTTCATCCTGCATGTGT 0.403000 25 53 0 0 0.005443 0 0 EVC 2121 broad.mit.edu 37 4 5806507 5806507 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:5806507C>T ENST00000382674.2 + 17 2684 c.2500C>T c.(2500-2502)Cct>Tct p.P834S EVC_ENST00000264956.6_Missense_Mutation_p.P834S P57679 EVC_HUMAN Ellis van Creveld syndrome 834 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ACTCAGCAACCCTTCGTCGGG 0.547000 25 140 0 0 0.007291 0 0 FAM221B 392307 broad.mit.edu 37 9 35825615 35825615 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:35825615C>T ENST00000423537.2 - 2 813 c.544G>A c.(544-546)Gga>Aga p.G182R TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 182 endometrium(2)|kidney(1)|lung(4) 7 GCATCTACTCCCTTTTCAACC 0.502000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 119 0 0 0.007835 0 0 MKRN3 7681 broad.mit.edu 37 15 23811821 23811821 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:23811821G>A ENST00000314520.3 + 1 1368 c.892G>A c.(892-894)Gaa>Aaa p.E298K MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 298 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GAAAGATATGGAACTCTCGTT 0.537000 4 21 0 0 0.000248 0 0 TULP1 7287 broad.mit.edu 37 6 35480454 35480454 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:35480454C>T ENST00000229771.6 - 2 140 c.61G>A c.(61-63)Gaa>Aaa p.E21K TULP1_ENST00000322263.4_Missense_Mutation_p.E21K NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 21 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CTCAGGCTTTCTTCTTCATGC 0.627000 18 110 0 0 0.001216 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939042 2939042 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:2939042C>T ENST00000378404.2 + 1 997 c.792C>T c.(790-792)ttC>ttT p.F264F NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 264 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) AGGCCCTGTTCGTGCCCCAGC 0.642000 19 68 0 0 0.001523 0 0 IGF1 3479 broad.mit.edu 37 12 102813337 102813337 + Missense_Mutation SNP C C T rs151098426 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:102813337C>T ENST00000456098.1 - 3 570 c.352G>A c.(352-354)Gct>Act p.A118T IGF1_ENST00000424202.2_Missense_Mutation_p.A102T|IGF1_ENST00000307046.8_Missense_Mutation_p.A118T|IGF1_ENST00000392904.1_Missense_Mutation_p.A118T|IGF1_ENST00000337514.6_Missense_Mutation_p.A118T NM_001111283.1 NP_001104753.1 P05019 IGF1_HUMAN insulin-like growth factor 1 (somatomedin C) 118 D. anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 ACAGAGCGAGCTGACTTGGCA 0.607000 11 25 0 0 0.000673 0 0 NHS 4810 broad.mit.edu 37 X 17745857 17745857 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:17745857G>A ENST00000380060.3 + 6 3906 c.3568G>A c.(3568-3570)Gga>Aga p.G1190R NHS_ENST00000398097.3_Missense_Mutation_p.G1034R NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1190 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) AGTTGAGATGGGACCAGATAA 0.393000 45 5 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47894497 47894497 + Silent SNP G G A rs149586291 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:47894497G>A ENST00000289672.2 - 30 4892 c.4842C>T c.(4840-4842)ccC>ccT p.P1614P NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1614 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCAACATGACGGGAAATGCCC 0.383000 35 41 0 0 0.006999 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21928215 21928215 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:21928215G>A ENST00000542643.2 - 22 1994 c.1692C>T c.(1690-1692)tcC>tcT p.S564S RAP1GAP_ENST00000290101.4_Silent_p.S602S|RAP1GAP_ENST00000374761.2_Silent_p.S569S|RAP1GAP_ENST00000374763.2_Silent_p.S623S|RAP1GAP_ENST00000374765.4_Silent_p.S538S NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 538 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) AGCTCTGAGTGGATGAGTTCT 0.672000 18 28 0 0 0.002299 0 0 ATP5J 522 broad.mit.edu 37 21 27102074 27102074 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:27102074G>A ENST00000400093.3 - 2 723 c.32C>T c.(31-33)tCt>tTt p.S11F ATP5J_ENST00000400087.3_Missense_Mutation_p.S11F|ATP5J_ENST00000400094.1_Missense_Mutation_p.S11F|ATP5J_ENST00000400090.3_Missense_Mutation_p.S11F|ATP5J_ENST00000284971.3_Missense_Mutation_p.S11F|ATP5J_ENST00000400099.1_Missense_Mutation_p.S11F|ATP5J_ENST00000457143.2_Missense_Mutation_p.S19F NM_001003701.1|NM_001003703.1|NM_001685.4 NP_001003701.1|NP_001003703.1|NP_001676.2 P18859 ATP5J_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 11 ATP catabolic process|respiratory electron transport chain hydrogen ion transmembrane transporter activity cervix(1)|endometrium(1)|lung(1)|pancreas(1) 4 CCGAATGACAGAGGAGAACCT 0.393000 18 18 0 0 0.001882 0 0 FBXO3 26273 broad.mit.edu 37 11 33790420 33790420 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:33790420G>A ENST00000530401.1 - 3 340 c.320C>T c.(319-321)cCt>cTt p.P107L FBXO3_ENST00000448981.2_Missense_Mutation_p.P112L|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.P112L|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000534136.1_Missense_Mutation_p.P112L Q9UK99 FBX3_HUMAN F-box protein 3 112 proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) AACCATCCGAGGACACCTGGG 0.388000 37 145 0 0 0.004878 0 0 IGLV2-8 28817 broad.mit.edu 37 22 23165548 23165548 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:23165548C>T ENST00000390317.2 + 0 281 GTCACCATCTCCTGCACTGGA 0.557000 74 277 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9059045 9059045 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9059045G>A ENST00000397910.4 - 3 28604 c.28401C>T c.(28399-28401)ttC>ttT p.F9467F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9469 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATAGAGGTGAAAAGAGAAG 0.478000 40 51 0 0 0.005524 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572510 38572510 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:38572510C>T ENST00000222345.6 + 3 814 c.305C>T c.(304-306)tCc>tTc p.S102F NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 102 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCAAGCCCCTCCCAGGACACA 0.662000 32 79 0 0 0.005524 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420984 105420984 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:105420984C>T ENST00000333244.5 - 7 923 c.804G>A c.(802-804)aaG>aaA p.K268K NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 268 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCGCTTGCTCTTTATGGATT 0.582000 9 12 0 0 0.000978 0 0 DSP 1832 broad.mit.edu 37 6 7585916 7585916 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:7585916C>T ENST00000379802.3 + 24 8762 c.8421C>T c.(8419-8421)tcC>tcT p.S2807S DSP_ENST00000418664.2_Silent_p.S2208S NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2807 Globular 2. 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) AAGCCGCCTCCGTGTCGTCCA 0.572000 43 265 0 0 0.003610 0 0 MYO7A 4647 broad.mit.edu 37 11 76885807 76885807 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:76885807C>T ENST00000409709.3 + 17 2213 c.1941C>T c.(1939-1941)ttC>ttT p.F647F MYO7A_ENST00000458637.2_Silent_p.F647F|MYO7A_ENST00000409619.2_Silent_p.F636F|MYO7A_ENST00000409893.1_Silent_p.F647F NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 647 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGCAGCTGTTCGACCGGCACC 0.617000 6 3 0 0 0.003080 0 0 KCNK17 89822 broad.mit.edu 37 6 39267263 39267263 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:39267263C>T ENST00000373231.4 - 5 1171 c.939G>A c.(937-939)atG>atA p.M313I KCNK17_ENST00000453413.2_3'UTR NM_031460.3 NP_113648.2 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 313 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 GTATGATTCCCATGGGTCCCT 0.552000 8 64 0 0 0.006214 0 0 MORC1 27136 broad.mit.edu 37 3 108724109 108724109 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:108724109T>A ENST00000232603.5 - 19 1903 c.1821A>T c.(1819-1821)gaA>gaT p.E607D MORC1_ENST00000483760.1_Missense_Mutation_p.E586D NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 607 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATGAAAGAGATTCATGCTTCA 0.348000 15 40 0 0 0.003163 0 0 RUNDC1 146923 broad.mit.edu 37 17 41143029 41143029 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:41143029C>T ENST00000361677.1 + 5 1150 c.1138C>T c.(1138-1140)Ccc>Tcc p.P380S NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 380 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) AGACTACTCTCCCTTGCTGAA 0.577000 23 16 0 0 0.001882 0 0 PTPRT 11122 broad.mit.edu 37 20 40770640 40770640 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:40770640G>A ENST00000373198.3 - 19 2986 c.2751C>T c.(2749-2751)gcC>gcT p.A917A PTPRT_ENST00000356100.2_Silent_p.A904A|PTPRT_ENST00000373201.1_Silent_p.A885A|PTPRT_ENST00000373193.3_Silent_p.A898A|PTPRT_ENST00000373187.1_Silent_p.A895A|PTPRT_ENST00000373184.1_Silent_p.A885A|PTPRT_ENST00000373190.1_Silent_p.A894A NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 895 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTCTGGTAAGGCCTAAAAAG 0.502000 43 83 0 0 0.001951 0 0 TLR1 7096 broad.mit.edu 37 4 38799133 38799133 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:38799133G>A ENST00000308979.2 - 4 1593 c.1320C>T c.(1318-1320)ttC>ttT p.F440F TLR1_ENST00000502213.2_Silent_p.F440F NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 440 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 GTAAACATCTGAAAATAGTGT 0.328000 23 156 0 0 0.002780 0 0 TTC7B 145567 broad.mit.edu 37 14 91007723 91007723 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:91007723G>A ENST00000357056.2 - 21 2693 c.2572C>T c.(2572-2574)Cgc>Tgc p.R858C TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.R841C Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 841 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) CAGAGCACGCGGGGGATGATG 0.687000 4 5 0 0 0.000248 0 0 SZT2 23334 broad.mit.edu 37 1 43891737 43891737 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:43891737C>T ENST00000562955.1 + 21 2958 c.2958C>T c.(2956-2958)gtC>gtT p.V986V SZT2_ENST00000372442.1_Silent_p.V144V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 986 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACACCTGCGTCCATGAGATCC 0.557000 10 35 0 0 0.000978 0 0 TRIM27 5987 broad.mit.edu 37 6 28872399 28872399 + Silent SNP G G A rs141777208 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:28872399G>A ENST00000377199.3 - 8 1346 c.990C>T c.(988-990)atC>atT p.I330I TRIM27_ENST00000377194.3_Silent_p.I330I NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 330 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TATCAGAGAGGATCAGGCTGG 0.552000 T RET papillary thyroid 8 64 0 0 0.004482 0 0 TTC3 7267 broad.mit.edu 37 21 38512909 38512909 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:38512909C>T ENST00000399017.2 + 20 4455 c.1708C>T c.(1708-1710)Ccc>Tcc p.P570S TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.P260S|TTC3_ENST00000355666.1_Missense_Mutation_p.P570S|TTC3_ENST00000354749.2_Missense_Mutation_p.P570S NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 570 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TGAACACTACCCCAGTGAGGG 0.368000 48 69 0 0 0.003610 0 0 KLHL24 54800 broad.mit.edu 37 3 183381293 183381293 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183381293G>A ENST00000454652.1 + 5 1354 c.968G>A c.(967-969)cGa>cAa p.R323Q KLHL24_ENST00000242810.6_Missense_Mutation_p.R323Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.R323Q Q6TFL4 KLH24_HUMAN kelch-like family member 24 323 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GGATGTGAGCGAGTTGGAGGA 0.353000 21 55 0 0 0.003954 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111857668 111857668 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:111857668G>A ENST00000375741.2 + 4 598 c.348G>A c.(346-348)caG>caA p.Q116Q ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375739.2_Silent_p.Q66Q|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Silent_p.Q95Q|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Silent_p.Q13Q|ARHGEF7_ENST00000544132.1_5'UTR NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 116 CH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ATCAGGGGCAGAATTTTAACA 0.388000 23 32 0 0 0.004656 0 0 ENTPD6 955 broad.mit.edu 37 20 25203577 25203577 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:25203577C>T ENST00000360031.2 + 12 1328 c.1146C>T c.(1144-1146)tcC>tcT p.S382S ENTPD6_ENST00000433259.2_Silent_p.S349S|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000376652.4_Silent_p.S383S|ENTPD6_ENST00000354989.5_Silent_p.S366S NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 383 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 ATGCTTTCTCCTACTATTACG 0.607000 34 142 0 0 0.002222 0 0 SLC39A5 283375 broad.mit.edu 37 12 56625132 56625132 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:56625132C>T ENST00000266980.4 + 2 367 c.74C>T c.(73-75)tCa>tTa p.S25L SLC39A5_ENST00000454355.2_Missense_Mutation_p.S25L NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 25 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GTAGGGGGCTCAGTCCCCAAC 0.622000 27 94 0 0 0.004656 0 0 ITGAL 3683 broad.mit.edu 37 16 30516721 30516721 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:30516721G>A ENST00000356798.6 + 20 2484 c.2304G>A c.(2302-2304)gaG>gaA p.E768E ITGAL_ENST00000358164.5_Silent_p.E684E|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 768 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCCCTTTTGAGAAGAACTGTG 0.542000 30 53 0 0 0.002445 0 0 OTUD4 54726 broad.mit.edu 37 4 146067531 146067531 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:146067531G>A ENST00000454497.2 - 14 1252 c.1115C>T c.(1114-1116)tCt>tTt p.S372F OTUD4_ENST00000447906.2_Missense_Mutation_p.S437F|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 436 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAAATAGTTAGATTCTCGACT 0.363000 24 31 0 0 0.006320 0 0 RERE 473 broad.mit.edu 37 1 8424199 8424199 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:8424199G>A ENST00000337907.3 - 16 2291 c.1657C>T c.(1657-1659)Ccg>Tcg p.P553S RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P553S|RERE_ENST00000377464.1_Missense_Mutation_p.P285S|RERE_ENST00000476556.1_5'UTR NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 553 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AACATAAACGGTGGCGGGTCC 0.607000 24 60 0 0 0.002780 0 0 PTBP2 58155 broad.mit.edu 37 1 97217021 97217021 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:97217021G>T ENST00000236228.6 + 3 162 c.80G>T c.(79-81)aGt>aTt p.S27I PTBP2_ENST00000370198.1_Missense_Mutation_p.S27I|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000394184.3_Missense_Mutation_p.S38I|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.S27I|PTBP2_ENST00000426398.2_Missense_Mutation_p.S27I NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 27 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) GTTCTCAGTAGTCCGAACTCT 0.348000 65 80 1.17597e-53 2.01719e-53 0.003610 1 0 MUC16 94025 broad.mit.edu 37 19 9077116 9077116 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9077116G>A ENST00000397910.4 - 3 10533 c.10330C>T c.(10330-10332)Cct>Tct p.P3444S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3445 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGACATCAGGAGATGCACCA 0.478000 28 44 0 0 0.004656 0 0 TMEM171 134285 broad.mit.edu 37 5 72419681 72419681 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:72419681C>T ENST00000454765.2 + 2 954 c.481C>T c.(481-483)Ctt>Ttt p.L161F TMEM171_ENST00000287773.5_Missense_Mutation_p.L161F Q8WVE6 TM171_HUMAN transmembrane protein 171 161 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) GTGTGGGTTCCTTTCTCTGCA 0.557000 71 74 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179501143 179501143 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179501143C>T ENST00000589042.1 - 225 41535 c.41311G>A c.(41311-41313)Gct>Act p.A13771T TTN_ENST00000359218.5_Missense_Mutation_p.A4831T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4898T|TTN_ENST00000591111.1_Missense_Mutation_p.A12130T|TTN_ENST00000460472.2_Missense_Mutation_p.A4706T|TTN_ENST00000342992.6_Missense_Mutation_p.A11203T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12130 Ig-like 94. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAAGTTTAGCCGTGGAGGTC 0.353000 13 15 0 0 0.001368 0 0 DNM3 26052 broad.mit.edu 37 1 172356454 172356454 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:172356454C>T ENST00000358155.4 + 19 2416 c.2240C>T c.(2239-2241)cCg>cTg p.P747L DNM3_ENST00000367731.1_Missense_Mutation_p.P743L|DNM3_ENST00000355305.5_Missense_Mutation_p.P753L NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 753 GED. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GTGTCCACTCCGGCACCCCCT 0.592000 13 33 0 0 0.001855 0 0 GPR152 390212 broad.mit.edu 37 11 67219903 67219903 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:67219903G>A ENST00000312457.2 - 1 297 c.293C>T c.(292-294)cCg>cTg p.P98L CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 98 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TGTCCCCAGCGGCCAGTGTCC 0.657000 10 50 0 0 0.001855 0 0 CCDC180 100499483 broad.mit.edu 37 9 100132243 100132243 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:100132243C>T ENST00000375202.2 + 46 5713 c.4361C>T c.(4360-4362)cCc>cTc p.P1454L CCDC180_ENST00000529487.1_Missense_Mutation_p.P1454L|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.P1399L|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 GAGCTGCTGCCCCAAGTGTGT 0.502000 9 20 0 0 0.000673 0 0 CAND2 23066 broad.mit.edu 37 3 12858846 12858846 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:12858846C>T ENST00000456430.2 + 10 2456 c.2415C>T c.(2413-2415)gcC>gcT p.A805A CAND2_ENST00000295989.5_Silent_p.A712A NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 805 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 ACTCATTGGCCCGGTGTGTGG 0.637000 12 54 0 0 0.007413 0 0 CDHR4 389118 broad.mit.edu 37 3 49836508 49836508 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:49836508G>A ENST00000412678.2 - 3 330 c.322C>T c.(322-324)Cat>Tat p.H108Y CDHR4_ENST00000487256.1_Missense_Mutation_p.H108Y|CDHR4_ENST00000343366.4_Missense_Mutation_p.H108Y NM_001007540.2 NP_001007541.2 A6H8M9 CDHR4_HUMAN cadherin-related family member 4 108 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 TCCATCACATGGTTGCCACAT 0.577000 3 5 0 0 0.004672 0 0 MYO18B 84700 broad.mit.edu 37 22 26423583 26423583 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:26423583C>A ENST00000335473.7 + 43 7893 c.7643C>A c.(7642-7644)cCa>cAa p.P2548Q MYO18B_ENST00000407587.2_Missense_Mutation_p.P2549Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.P2548Q NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2548 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGGAGAGAGCCAGGGACGGGG 0.542000 10 2 0.000442599 0.000748444 0.006214 1 0 MATN2 4147 broad.mit.edu 37 8 99019816 99019816 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:99019816G>A ENST00000254898.5 + 10 1791 c.1560G>A c.(1558-1560)ggG>ggA p.G520G MATN2_ENST00000524308.1_Silent_p.G479G|MATN2_ENST00000522025.2_Silent_p.G236G|MATN2_ENST00000520016.1_Silent_p.G520G|MATN2_ENST00000521689.1_Silent_p.G520G NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 520 EGF-like 7. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GCAGCGATGGGAAGACGTGTG 0.567000 27 149 0 0 0.005443 0 0 KRTAP19-8 728299 broad.mit.edu 37 21 32410611 32410611 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:32410611G>A ENST00000382822.2 - 1 184 c.152C>T c.(151-153)cCa>cTa p.P51L NM_001099219.1 NP_001092689.1 Q3LI54 KR198_HUMAN keratin associated protein 19-8 51 intermediate filament endometrium(2)|upper_aerodigestive_tract(1) 3 GTAGTATAATGGTCGGCAACA 0.493000 39 103 0 0 0.007835 0 0 TCTN1 79600 broad.mit.edu 37 12 111085590 111085590 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:111085590A>G ENST00000551590.1 + 14 1813 c.1657A>G c.(1657-1659)Act>Gct p.T553A TCTN1_ENST00000377654.3_3'UTR|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.T558A|TCTN1_ENST00000397655.3_Missense_Mutation_p.T539A Q2MV58 TECT1_HUMAN tectonic family member 1 553 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TCTTATTTCCACTGCGGTTAC 0.498000 20 46 0 0 0.001216 0 0 ADAR 103 broad.mit.edu 37 1 154574527 154574527 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:154574527G>A ENST00000368474.4 - 2 790 c.591C>T c.(589-591)atC>atT p.I197I ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.I240I NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 197 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding p.I197I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TGGAGACCGCGATTTTCCACA 0.522000 60 144 0 0 0.003610 0 0 OR2A4 79541 broad.mit.edu 37 6 132022493 132022493 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:132022493G>A ENST00000315453.2 - 1 142 c.49C>T c.(49-51)Ccc>Tcc p.P17S ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron NM_030908.1 NP_112170.1 O95047 OR2A4_HUMAN olfactory receptor, family 2, subfamily A, member 4 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041) GGGCCAACGGGAAATCCCAGT 0.488000 19 28 0 0 0.003330 0 0 SCAF8 22828 broad.mit.edu 37 6 155114102 155114102 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:155114102A>C ENST00000367178.3 + 5 1043 c.467A>C c.(466-468)aAt>aCt p.N156T SCAF8_ENST00000367186.4_Missense_Mutation_p.N222T|SCAF8_ENST00000417268.1_Missense_Mutation_p.N156T NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 156 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 GCTATGAGCAATACTCCAGGT 0.398000 18 23 0 0 0.001523 0 0 ZNF483 158399 broad.mit.edu 37 9 114304657 114304657 + Missense_Mutation SNP C C T rs149958964 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:114304657C>T ENST00000309235.5 + 6 1600 c.1442C>T c.(1441-1443)tCg>tTg p.S481L ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 481 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 GATAGTTCATCGCTCACACCA 0.418000 16 18 0 0 0.004007 0 0 MEP1A 4224 broad.mit.edu 37 6 46787396 46787396 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:46787396G>A ENST00000230588.4 + 7 520 c.511G>A c.(511-513)Gac>Aac p.D171N NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 171 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.D171N(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GTCAAGGACGGACCGGGATGA 0.478000 50 311 0 0 0.003610 0 0 BTN3A2 11118 broad.mit.edu 37 6 26373641 26373641 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:26373641C>T ENST00000356386.2 + 8 1152 c.964_splice c.e8+1 p.R322_splice BTN3A2_ENST00000377708.2_Splice_Site_p.R322_splice|BTN3A2_ENST00000527422.1_Splice_Site_p.R322_splice|BTN3A2_ENST00000508906.2_Splice_Site_p.R280_splice|BTN3A2_ENST00000396934.3_Splice_Site_p.R299_splice|BTN3A2_ENST00000396948.1_Splice_Site_p.R322_splice NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 322 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 GTACTTGACTCGTGAGTGGCT 0.433000 18 136 0 0 0.004990 0 0 PLIN3 10226 broad.mit.edu 37 19 4859643 4859643 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:4859643A>G ENST00000221957.4 - 4 483 c.307T>C c.(307-309)Ttg>Ctg p.L103L PLIN3_ENST00000592528.1_Silent_p.L103L|PLIN3_ENST00000585479.1_Silent_p.L103L NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 103 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) TTCTCCTCCAACTTGTCCAGC 0.562000 15 19 0 0 0.004007 0 0 CYFIP2 26999 broad.mit.edu 37 5 156757855 156757855 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:156757855C>T ENST00000347377.6 + 20 2693 c.2262C>T c.(2260-2262)gtC>gtT p.V754V CYFIP2_ENST00000522463.1_Silent_p.V558V|CYFIP2_ENST00000377576.3_Silent_p.V754V|CYFIP2_ENST00000521420.1_Silent_p.V728V|CYFIP2_ENST00000318218.6_Silent_p.V779V|CYFIP2_ENST00000541131.1_Silent_p.V679V|CYFIP2_ENST00000442283.2_Silent_p.V39V|CYFIP2_ENST00000435847.2_Silent_p.V453V NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 779 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAGACACGTCCAGGTATGGG 0.498000 60 251 0 0 0.003610 0 0 RASD2 23551 broad.mit.edu 37 22 35947656 35947656 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:35947656G>A ENST00000216127.4 + 3 1020 c.378G>A c.(376-378)aaG>aaA p.K126K NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 126 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 TGAAGAACAAGACCAAGGAGG 0.607000 18 129 0 0 0.006122 0 0 ETV5 2119 broad.mit.edu 37 3 185783621 185783621 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:185783621C>T ENST00000306376.5 - 8 1137 c.891G>A c.(889-891)cgG>cgA p.R297R ETV5_ENST00000434744.1_Silent_p.R297R|ETV5_ENST00000537818.1_Silent_p.R339R NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 297 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) CGCAGTAATCCCGAGGCTCCT 0.507000 T """TMPRSS2, SCL45A3""" Prostate 65 136 0 0 0.003610 0 0 NPY5R 4889 broad.mit.edu 37 4 164272606 164272606 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:164272606A>T ENST00000515560.1 + 4 2703 c.1181A>T c.(1180-1182)aAt>aTt p.N394I NPY5R_ENST00000338566.3_Missense_Mutation_p.N394I|NPY5R_ENST00000506953.1_Missense_Mutation_p.N394I Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 394 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ACTGATTTTAATGACAATCTT 0.353000 23 32 0 0 0.001882 0 0 NGRN 51335 broad.mit.edu 37 15 90814640 90814640 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:90814640G>A ENST00000379095.3 + 3 504 c.496G>A c.(496-498)Ggc>Agc p.G166S RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR NM_001033088.1 NP_001028260.2 Q9NPE2 NGRN_HUMAN neugrin, neurite outgrowth associated 166 neuron differentiation extracellular region|nucleus kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) GCTCCCTGCAGGCCACTCTGT 0.512000 21 33 0 0 0.002780 0 0 FA2H 79152 broad.mit.edu 37 16 74752958 74752958 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:74752958G>C ENST00000219368.3 - 5 783 c.714C>G c.(712-714)ttC>ttG p.F238L FA2H_ENST00000544337.1_Missense_Mutation_p.F25L NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 238 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 GCTTCATGTGGAACAGGAAGC 0.612000 15 40 0 0 0.002450 0 0 EBF3 253738 broad.mit.edu 37 10 131761695 131761695 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:131761695T>C ENST00000368648.3 - 2 299 c.227A>G c.(226-228)gAt>gGt p.D76G EBF3_ENST00000355311.5_Missense_Mutation_p.D76G NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 76 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCCCTGCCTATCGTAGAGCGC 0.572000 39 60 0 0 0.002222 0 0 CDHR1 92211 broad.mit.edu 37 10 85972966 85972966 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:85972966C>T ENST00000372117.3 + 16 2005 c.1902C>T c.(1900-1902)tcC>tcT p.S634S CDHR1_ENST00000332904.3_Silent_p.S634S|CDHR1_ENST00000440770.2_Silent_p.S338S NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 634 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TCAAGAATTCCATCCGCTCCC 0.582000 30 36 0 0 0.001786 0 0 MFSD4 148808 broad.mit.edu 37 1 205549855 205549855 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:205549855G>A ENST00000367147.4 + 3 589 c.496G>A c.(496-498)Gag>Aag p.E166K MFSD4_ENST00000536357.1_Intron|MFSD4_ENST00000539267.1_Missense_Mutation_p.E166K NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 166 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TTTCCTGTCTGAGGCCAACTG 0.617000 110 42 0 0 0.003610 0 0 GPRIN3 285513 broad.mit.edu 37 4 90171111 90171111 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:90171111G>A ENST00000333209.3 - 2 669 c.151C>T c.(151-153)Cct>Tct p.P51S NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 51 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GGTTCTGCAGGGGCACCTGAA 0.562000 32 32 0 0 0.002096 0 0 ACSS3 79611 broad.mit.edu 37 12 81536964 81536964 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:81536964C>T ENST00000548058.1 + 5 1769 c.859C>T c.(859-861)Cct>Tct p.P287S ACSS3_ENST00000261206.3_Missense_Mutation_p.P286S Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 287 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TGACTGTGTTCCTGTTCTTTC 0.448000 18 44 0 0 0.007413 0 0 RELN 5649 broad.mit.edu 37 7 103216024 103216024 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:103216024C>T ENST00000428762.1 - 29 4433 c.4274G>A c.(4273-4275)gGa>gAa p.G1425E RELN_ENST00000424685.2_Missense_Mutation_p.G1425E|RELN_ENST00000343529.5_Missense_Mutation_p.G1425E NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1425 EGF-like 3. 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) GAAACACACTCCTGAAATGCA 0.438000 18 30 0 0 0.001523 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195936327 195936327 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:195936327G>A ENST00000296326.3 - 3 407 c.328C>T c.(328-330)Cgc>Tgc p.R110C ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 110 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CATTGCAGGCGGAAGGCCCCG 0.652000 4 19 0 0 0.000248 0 0 ALG14 199857 broad.mit.edu 37 1 95538372 95538372 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:95538372G>A ENST00000370205.4 - 1 129 c.83C>T c.(82-84)tCc>tTc p.S28F ALG14_ENST00000495856.1_5'UTR NM_144988.3 NP_659425.1 Q96F25 ALG14_HUMAN ALG14, UDP-N-acetylglucosaminyltransferase subunit 28 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 6 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) AACGTCCATGGAACGAAGCAC 0.562000 27 28 0 0 0.007291 0 0 PDP2 57546 broad.mit.edu 37 16 66918222 66918222 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:66918222C>T ENST00000311765.2 + 2 369 c.35C>T c.(34-36)tCt>tTt p.S12F PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 12 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) ATCTTAAATTCTACAAGGAAC 0.373000 42 191 0 0 0.002522 0 0 BDKRB2 624 broad.mit.edu 37 14 96707723 96707723 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:96707723A>C ENST00000542454.2 + 3 4065 c.977A>C c.(976-978)aAa>aCa p.K326T RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.K353T|BDKRB2_ENST00000539359.1_Missense_Mutation_p.K326T|BDKRB2_ENST00000306005.3_Missense_Mutation_p.K353T P30411 BKRB2_HUMAN bradykinin receptor B2 353 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GTGTGCCAGAAAGGGGGCTGC 0.572000 8 26 0 0 0.000673 0 0 RFFL 117584 broad.mit.edu 37 17 33348531 33348531 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:33348531G>A ENST00000315249.7 - 3 672 c.450C>T c.(448-450)acC>acT p.T150T RFFL_ENST00000447669.2_Silent_p.T150T|RFFL_ENST00000413582.2_Silent_p.T150T|RFFL_ENST00000394597.2_Silent_p.T150T|RFFL_ENST00000378516.2_Silent_p.T150T|RFFL_ENST00000268850.7_Silent_p.T150T|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Silent_p.T150T|RFFL_ENST00000584655.1_Silent_p.T150T Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 150 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CTGGGGACAAGGTGGAGGCAC 0.577000 10 9 0 0 0.006214 0 0 TDRD6 221400 broad.mit.edu 37 6 46660298 46660298 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:46660298C>T ENST00000544460.1 + 1 4687 c.4433C>T c.(4432-4434)gCt>gTt p.A1478V TDRD6_ENST00000316081.6_Missense_Mutation_p.A1478V NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1478 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AGCAGGTATGCTCTCAGTGAA 0.348000 24 111 0 0 0.003330 0 0 LPHN3 23284 broad.mit.edu 37 4 62845460 62845460 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:62845460C>T ENST00000512091.1 + 17 3528 c.2781C>T c.(2779-2781)ttC>ttT p.F927F LPHN3_ENST00000509896.1_Silent_p.F995F|LPHN3_ENST00000511324.1_Silent_p.F995F|LPHN3_ENST00000508693.1_Silent_p.F995F|LPHN3_ENST00000506746.1_Silent_p.F995F|LPHN3_ENST00000545650.1_Silent_p.F927F|LPHN3_ENST00000507164.1_Silent_p.F995F|LPHN3_ENST00000506720.1_Silent_p.F995F|LPHN3_ENST00000514996.1_Silent_p.F927F|LPHN3_ENST00000514591.1_Silent_p.F927F|LPHN3_ENST00000514157.1_Silent_p.F927F|LPHN3_ENST00000508946.1_Silent_p.F927F|LPHN3_ENST00000506700.1_Silent_p.F927F|LPHN3_ENST00000507625.1_Silent_p.F995F|LPHN3_ENST00000504896.1_Silent_p.F927F Q9HAR2 LPHN3_HUMAN latrophilin 3 914 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AGCTGCTCTTCCTGATTGGGA 0.453000 38 141 0 0 0.005524 0 0 COL22A1 169044 broad.mit.edu 37 8 139674289 139674289 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:139674289C>T ENST00000303045.6 - 43 3670 c.3224G>A c.(3223-3225)gGc>gAc p.G1075D COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1055D NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1075 Collagen-like 9.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCGGCTGGGCCCTGGGGGCC 0.547000 HNSCC(7;0.00092) 14 114 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9061543 9061543 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9061543C>T ENST00000397910.4 - 3 26106 c.25903G>A c.(25903-25905)Gat>Aat p.D8635N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8637 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTCTCTATCTTTGGTGACT 0.438000 24 27 0 0 0.003330 0 0 GPD2 2820 broad.mit.edu 37 2 157425455 157425455 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:157425455C>T ENST00000310454.6 + 10 1656 c.1284C>T c.(1282-1284)ggC>ggT p.G428G GPD2_ENST00000409674.1_Silent_p.G428G|GPD2_ENST00000409125.4_Silent_p.G201G|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Silent_p.G428G NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 428 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 GTGAGAGTGGCCTTATTACTA 0.413000 43 61 0 0 0.003610 0 0 EPHB1 2047 broad.mit.edu 37 3 134670723 134670723 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:134670723G>A ENST00000398015.3 + 3 1004 c.634G>A c.(634-636)Ggg>Agg p.G212R EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 212 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GACTATGACAGGGGCAGAGAG 0.507000 66 151 0 0 0.003610 0 0 ITGAL 3683 broad.mit.edu 37 16 30516772 30516772 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:30516772C>T ENST00000356798.6 + 20 2535 c.2355C>T c.(2353-2355)ttC>ttT p.F785F ITGAL_ENST00000358164.5_Silent_p.F701F|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 785 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GAGTGTCCTTCTCTCCTGCAA 0.507000 21 46 0 0 0.001523 0 0 FGF12 2257 broad.mit.edu 37 3 192125915 192125915 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:192125915G>A ENST00000454309.2 - 1 923 c.98C>T c.(97-99)cCc>cTc p.P33L FGF12_ENST00000445105.1_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000450716.1_Intron NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 33 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) GTCTTTGCTGGGGCTGGAGCG 0.677000 34 56 0 0 0.003271 0 0 AREL1 9870 broad.mit.edu 37 14 75136688 75136688 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:75136688A>T ENST00000356357.4 - 14 2265 c.1750T>A c.(1750-1752)Ttc>Atc p.F584I AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 TGGGCCAGGAAAGAGCGGGTG 0.517000 23 29 0 0 0.002780 0 0 MYOCD 93649 broad.mit.edu 37 17 12656388 12656388 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:12656388G>A ENST00000425538.1 + 10 1983 c.1783G>A c.(1783-1785)Gag>Aag p.E595K MYOCD_ENST00000343344.4_Missense_Mutation_p.E595K|MYOCD_ENST00000395988.1_Missense_Mutation_p.E499K NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 595 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 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) CAGCAGCTCAGAGTGTCACCC 0.517000 27 39 0 0 0.002096 0 0 TET1 80312 broad.mit.edu 37 10 70405173 70405173 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:70405173C>T ENST00000373644.4 + 4 2896 c.2687C>T c.(2686-2688)gCc>gTc p.A896V NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 896 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GCCATAGAGGCCCTGACTCAA 0.448000 43 62 0 0 0.003610 0 0 FBXL6 26233 broad.mit.edu 37 8 145579751 145579751 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:145579751T>G ENST00000331890.5 - 8 1413 c.1349A>C c.(1348-1350)cAg>cCg p.Q450P FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.Q444P NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 450 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) ACTGAACCCCTGGCCACTCAA 0.607000 63 126 0 0 0.003610 0 0 HSD17B13 345275 broad.mit.edu 37 4 88235068 88235068 + Missense_Mutation SNP G G A rs142648167 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:88235068G>A ENST00000328546.4 - 5 666 c.602C>T c.(601-603)tCa>tTa p.S201L HSD17B13_ENST00000302219.6_Missense_Mutation_p.S165L NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 201 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) CTGAAGTTCTGATGTCAGACC 0.433000 13 15 0 0 0.001855 0 0 TRO 7216 broad.mit.edu 37 X 54957352 54957352 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:54957352G>A ENST00000173898.7 + 12 4307 c.4195G>A c.(4195-4197)Gga>Aga p.G1399R TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G930R|TRO_ENST00000375041.2_Missense_Mutation_p.G1002R|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1399 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CTTCGGCGGTGGACCAAACAC 0.617000 29 3 0 0 0.001512 0 0 PPP3CC 5533 broad.mit.edu 37 8 22370923 22370923 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:22370923C>T ENST00000240139.5 + 6 1075 c.748C>T c.(748-750)Cga>Tga p.R250* PPP3CC_ENST00000397775.3_Nonsense_Mutation_p.R250*|PPP3CC_ENST00000289963.8_Nonsense_Mutation_p.R250*|PPP3CC_ENST00000518852.1_Nonsense_Mutation_p.R250* NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 250 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) CAACACTGTCCGAGGGTGCTC 0.428000 45 78 0 0 0.003610 0 0 TDRD6 221400 broad.mit.edu 37 6 46665773 46665773 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:46665773C>T ENST00000316081.6 + 3 6210 c.6210C>T c.(6208-6210)aaC>aaT p.N2070N TDRD6_ENST00000544460.1_Intron NM_001010870.2 NP_001010870.1 O60522 TDRD6_HUMAN tudor domain containing 6 2070 Tudor 8. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AGATAGTGAACCCTGAGAATG 0.338000 49 297 0 0 0.003610 0 0 PPP1R32 220004 broad.mit.edu 37 11 61250166 61250166 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:61250166G>A ENST00000338608.2 + 4 392 c.267G>A c.(265-267)caG>caA p.Q89Q PPP1R32_ENST00000432063.2_Silent_p.Q89Q|RP11-286N22.8_ENST00000544880.1_Intron NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 89 TGGCCAGCCAGAGCTACCGCC 0.652000 OREG0021002 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 17 0 0 0.006122 0 0 P2RX3 5024 broad.mit.edu 37 11 57137411 57137411 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57137411G>A ENST00000263314.2 + 12 1169 c.1135G>A c.(1135-1137)Gac>Aac p.D379N NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 379 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GTACCCCAGCGACCAGACCAC 0.577000 8 43 0 0 0.000978 0 0 RTN4 57142 broad.mit.edu 37 2 55200750 55200750 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:55200750A>T ENST00000337526.6 - 8 3728 c.3485T>A c.(3484-3486)aTa>aAa p.I1162K RTN4_ENST00000404909.1_Missense_Mutation_p.I956K|RTN4_ENST00000402434.2_Missense_Mutation_p.I315K|RTN4_ENST00000357376.3_Missense_Mutation_p.I956K|RTN4_ENST00000394611.2_Missense_Mutation_p.I956K|RTN4_ENST00000405240.1_Missense_Mutation_p.I956K|RTN4_ENST00000354474.6_Missense_Mutation_p.I930K|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000317610.7_Missense_Mutation_p.I343K|RTN4_ENST00000394609.2_Missense_Mutation_p.I169K|RTN4_ENST00000357732.4_Missense_Mutation_p.I362K NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 1162 Reticulon. apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 ATAATGATCTATCTGTGCCTG 0.343000 35 27 0 0 0.007835 0 0 PTK2 5747 broad.mit.edu 37 8 141889609 141889609 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:141889609C>T ENST00000522684.1 - 4 552 c.323G>A c.(322-324)aGg>aAg p.R108K PTK2_ENST00000340930.3_Missense_Mutation_p.R108K|PTK2_ENST00000535192.1_Missense_Mutation_p.R108K|PTK2_ENST00000521059.1_Missense_Mutation_p.R108K|PTK2_ENST00000519881.1_Missense_Mutation_p.R108K|PTK2_ENST00000517887.1_Missense_Mutation_p.R152K|PTK2_ENST00000520892.1_Missense_Mutation_p.R108K|PTK2_ENST00000519419.1_Missense_Mutation_p.R152K|PTK2_ENST00000395218.2_Missense_Mutation_p.R108K NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 108 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) ATACTTCTCCCTCACACTGGA 0.483000 86 243 0 0 0.003610 0 0 NT5C1B 93034 broad.mit.edu 37 2 18768804 18768804 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:18768804C>T ENST00000304081.4 - 2 185 c.85G>A c.(85-87)Gaa>Aaa p.E29K NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E29K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E29K|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E29K NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TTGTCAGATTCCTTTCTTTTT 0.393000 34 80 0 0 0.005524 0 0 ADAM12 8038 broad.mit.edu 37 10 127755328 127755328 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:127755328C>T ENST00000368679.4 - 13 1689 c.1380G>A c.(1378-1380)ccG>ccA p.P460P ADAM12_ENST00000368676.4_Silent_p.P460P|ADAM12_ENST00000467145.1_5'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 460 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) ACACAGCGTCCGGCTTCAGGG 0.552000 11 18 0 0 0.000978 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726745 25726745 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:25726745C>T ENST00000297012.3 - 1 45 c.11G>A c.(10-12)cGa>cAa p.R4Q NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 4 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 CTGCTTCCCTCGTCCAGACAT 0.522000 16 115 0 0 0.001216 0 0 DMTN 2039 broad.mit.edu 37 8 21938632 21938632 + Silent SNP C C T rs146626785 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:21938632C>T ENST00000358242.3 + 15 1525 c.1032C>T c.(1030-1032)ccC>ccT p.P344P DMTN_ENST00000517600.1_Silent_p.P304P|DMTN_ENST00000381470.3_Silent_p.P322P|DMTN_ENST00000523266.1_Silent_p.P344P|DMTN_ENST00000519907.1_Silent_p.P322P|DMTN_ENST00000265800.5_Silent_p.P344P|DMTN_ENST00000523782.2_Silent_p.P297P|DMTN_ENST00000443491.2_Silent_p.P297P|DMTN_ENST00000432128.1_Silent_p.P344P|DMTN_ENST00000415253.1_Silent_p.P322P dematin actin binding protein AGATCTATCCCTATGAAATGC 0.587000 14 39 0 0 0.001855 0 0 ZNF154 7710 broad.mit.edu 37 19 58213274 58213274 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:58213274C>T ENST00000512439.2 - 3 1239 c.1043G>A c.(1042-1044)cGg>cAg p.R348Q AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R348Q Q13106 ZN154_HUMAN zinc finger protein 154 348 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGAACTCCCCGATGTTGAAG 0.498000 22 63 0 0 0.001882 0 0 CNGA3 1261 broad.mit.edu 37 2 99013680 99013680 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:99013680C>T ENST00000393504.1 + 8 2464 c.2047C>T c.(2047-2049)Ccc>Tcc p.P683S CNGA3_ENST00000436404.2_Missense_Mutation_p.P665S|CNGA3_ENST00000409937.1_Missense_Mutation_p.P687S|CNGA3_ENST00000272602.2_Missense_Mutation_p.P683S NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 683 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TGGGGAAGTTCCCGGGGATGC 0.552000 10 24 0 0 0.001368 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323156 61323156 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:61323156C>T ENST00000283752.5 - 8 1051 c.908G>A c.(907-909)gGa>gAa p.G303E SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.G251E NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 303 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 ATCCACCATTCCCATGGTTCT 0.502000 25 46 0 0 0.001512 0 0 PTPRA 5786 broad.mit.edu 37 20 3005267 3005267 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:3005267G>A ENST00000216877.6 + 16 1987 c.1587_splice c.e16+1 p.K529_splice PTPRA_ENST00000356147.3_Splice_Site_p.K529_splice|PTPRA_ENST00000380393.3_Splice_Site_p.K538_splice|PTPRA_ENST00000425918.2_Splice_Site_p.K549_splice|PTPRA_ENST00000358719.4_Splice_Site_p.K394_splice|PTPRA_ENST00000318266.5_Splice_Site_p.K529_splice|PTPRA_ENST00000399903.2_Splice_Site_p.K538_splice NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 538 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AGGAGTTTAAGGTGAGTTGGA 0.458000 33 70 0 0 0.002445 0 0 SUPT5H 6829 broad.mit.edu 37 19 39961136 39961136 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:39961136C>T ENST00000599117.1 + 19 2017 c.1650C>T c.(1648-1650)atC>atT p.I550I SUPT5H_ENST00000359191.6_Silent_p.I546I|SUPT5H_ENST00000598725.1_Silent_p.I550I|SUPT5H_ENST00000432763.2_Silent_p.I550I|SUPT5H_ENST00000402194.2_Silent_p.I546I O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 550 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGGGTGTCATCGTGCGACTAG 0.592000 49 118 0 0 0.003610 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117527 46117527 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:46117527C>T ENST00000400365.3 + 1 441 c.411C>T c.(409-411)tgC>tgT p.C137C TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 137 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 AGTCTAGCTGCCAGCCAGCTT 0.617000 41 47 0 0 0.006230 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33893999 33893999 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:33893999C>T ENST00000307296.3 + 13 2038 c.1661C>T c.(1660-1662)tCc>tTc p.S554F PDCD6IP_ENST00000457054.2_Missense_Mutation_p.S559F Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 554 Interaction with EIAV p9.|Self-association. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 GTCTTAAAATCCTTATTGTCA 0.303000 7 25 0 0 0.000673 0 0 C19orf70 125988 broad.mit.edu 37 19 5679657 5679657 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:5679657G>A ENST00000309324.4 - 2 556 c.147C>T c.(145-147)ccC>ccT p.P49P C19orf70_ENST00000587950.1_Silent_p.P71P|C19orf70_ENST00000587589.1_Silent_p.P49P|C19orf70_ENST00000585605.1_5'UTR|C19orf70_ENST00000590389.1_Silent_p.P71P|RPL36_ENST00000579649.1_Intron NM_205767.1 NP_991330.1 Q5XKP0 QIL1_HUMAN chromosome 19 open reading frame 70 49 protein binding endometrium(1)|lung(1) 2 ACATGGCGGGGGGGACCACCT 0.667000 15 30 0 0 0.006122 0 0 FA2H 79152 broad.mit.edu 37 16 74752957 74752957 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:74752957G>A ENST00000219368.3 - 5 784 c.715C>T c.(715-717)Cac>Tac p.H239Y FA2H_ENST00000544337.1_Missense_Mutation_p.H26Y NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 239 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 GGCTTCATGTGGAACAGGAAG 0.617000 16 39 0 0 0.003163 0 0 TOP2A 7153 broad.mit.edu 37 17 38546331 38546331 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:38546331G>A ENST00000423485.1 - 34 4511 c.4353C>T c.(4351-4353)gtC>gtT p.V1451V NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1451 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GCTTTTGAGAGACACCAGAAT 0.443000 13 16 0 0 0.001855 0 0 ZNF318 24149 broad.mit.edu 37 6 43322651 43322651 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43322651G>A ENST00000361428.2 - 4 2498 c.2421C>T c.(2419-2421)acC>acT p.T807T ZNF318_ENST00000318149.3_Silent_p.T807T NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 807 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ACGGTTGAGAGGTGGGATACA 0.527000 22 93 0 0 0.001882 0 0 WDR65 149465 broad.mit.edu 37 1 43649261 43649261 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:43649261G>A ENST00000372492.4 + 4 798 c.e4-1 WDR65_ENST00000528956.1_Splice_Site NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACATTTTACAGGTGAGCTTCA 0.373000 22 34 0 0 0.002780 0 0 GPR179 440435 broad.mit.edu 37 17 36493589 36493589 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:36493589C>T ENST00000342292.4 - 3 938 c.918G>A c.(916-918)gaG>gaA p.E306E NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 306 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGCCCTGACTCTCCAGGGGAA 0.572000 38 18 0 0 0.007835 0 0 CYP2W1 54905 broad.mit.edu 37 7 1024668 1024668 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:1024668G>A ENST00000340150.6 + 3 274 c.252G>A c.(250-252)cgG>cgA p.R84R CYP2W1_ENST00000308919.7_Silent_p.R140R Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 140 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCGTGGGCCGGGAGCCGGTGG 0.672000 9 74 0 0 0.004482 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68795664 68795664 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:68795664T>G ENST00000508048.1 - 5 447 c.412A>C c.(412-414)Atc>Ctc p.I138L RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.I142L|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.I139L Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 142 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TGATTTAAGATGCTTTGGATT 0.403000 34 36 0 0 0.003271 0 0 PPIC 5480 broad.mit.edu 37 5 122361629 122361629 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:122361629C>T ENST00000306442.4 - 4 475 c.360G>A c.(358-360)gaG>gaA p.E120E NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 120 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) GCTTGAAGTTCTCATCTGGAA 0.473000 4 36 0 0 0.000248 0 0 RUNX2 860 broad.mit.edu 37 6 45514872 45514872 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:45514872C>T ENST00000371438.1 + 8 1754 c.1396C>T c.(1396-1398)Cct>Tct p.P466S RUNX2_ENST00000371432.3_Missense_Mutation_p.P430S|RUNX2_ENST00000359524.5_Missense_Mutation_p.P452S|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.P534S|RUNX2_ENST00000541979.1_Missense_Mutation_p.P512S|RUNX2_ENST00000465038.2_Missense_Mutation_p.P466S|RUNX2_ENST00000371436.6_Missense_Mutation_p.P444S NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 466 Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGACCGGTCTCCTTCCAGAAT 0.532000 18 90 0 0 0.004990 0 0 SRP54 6729 broad.mit.edu 37 14 35482571 35482571 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:35482571A>T ENST00000556994.1 + 10 1053 c.656A>T c.(655-657)tAt>tTt p.Y219F SRP54_ENST00000555557.1_Missense_Mutation_p.Y155F|SRP54_ENST00000216774.6_Missense_Mutation_p.Y219F|SRP54_ENST00000546080.1_Missense_Mutation_p.Y170F P61011 SRP54_HUMAN signal recognition particle 54kDa 219 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) AACATTGTTTATGTGATGGAT 0.348000 18 29 0 0 0.002780 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26423481 26423481 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:26423481G>A ENST00000466808.2 + 0 400 CTGCAATGAGGCCATCCTGCA 0.512000 10 85 0 0 0.000978 0 0 JMY 133746 broad.mit.edu 37 5 78610468 78610468 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:78610468C>T ENST00000396137.4 + 9 2915 c.2453C>T c.(2452-2454)cCc>cTc p.P818L JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 818 Pro-rich. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ccacctcctccccctccccca 0.537000 25 14 0 0 0.004656 0 0 HTR3E 285242 broad.mit.edu 37 3 183822695 183822695 + Silent SNP C C T rs145422207 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183822695C>T ENST00000415389.2 + 5 976 c.510C>T c.(508-510)ccC>ccT p.P170P HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Silent_p.P155P|HTR3E_ENST00000440596.2_Silent_p.P196P|HTR3E_ENST00000335304.2_Silent_p.P185P|HTR3E_ENST00000436361.2_Silent_p.P170P NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 170 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCTACTTCCCCTTCGACCAGC 0.473000 19 69 0 0 0.001882 0 0 FLNB 2317 broad.mit.edu 37 3 58094218 58094218 + Missense_Mutation SNP G G A rs140945224 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:58094218G>A ENST00000357272.4 + 13 2140 c.1975G>A c.(1975-1977)Gga>Aga p.G659R FLNB_ENST00000493452.1_Missense_Mutation_p.G490R|FLNB_ENST00000429972.2_Missense_Mutation_p.G659R|FLNB_ENST00000419752.2_Missense_Mutation_p.G490R|FLNB_ENST00000490882.1_Missense_Mutation_p.G659R|FLNB_ENST00000295956.4_Missense_Mutation_p.G659R|FLNB_ENST00000348383.5_Missense_Mutation_p.G659R|FLNB_ENST00000358537.3_Missense_Mutation_p.G659R O75369 FLNB_HUMAN filamin B, beta 659 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGAGAAATCTGGATGCATTGT 0.463000 12 30 0 0 0.002450 0 0 MOCS3 27304 broad.mit.edu 37 20 49576006 49576006 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:49576006G>A ENST00000244051.1 + 1 644 c.627G>A c.(625-627)gaG>gaA p.E209E NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 209 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 TGCGCTTCGAGGGCCAAATCA 0.617000 18 59 0 0 0.001216 0 0 SNX8 29886 broad.mit.edu 37 7 2297013 2297013 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2297013G>A ENST00000222990.3 - 9 1163 c.1121C>T c.(1120-1122)tCc>tTc p.S374F NM_013321.2 NP_037453.1 Q9Y5X2 SNX8_HUMAN sorting nexin 8 374 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CACAATGCGGGACTCCAGCTG 0.701000 8 22 0 0 0.006214 0 0 DTX4 23220 broad.mit.edu 37 11 58962828 58962828 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:58962828C>T ENST00000227451.3 + 7 1626 c.1522C>T c.(1522-1524)Ccc>Tcc p.P508S DTX4_ENST00000532982.1_Missense_Mutation_p.P402S NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 508 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) CTACAGCATCCCCCCCGGCAT 0.512000 8 31 0 0 0.003080 0 0 RNF216 54476 broad.mit.edu 37 7 5764962 5764962 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:5764962A>T ENST00000425013.2 - 8 1550 c.1326T>A c.(1324-1326)ttT>ttA p.F442L RNF216_ENST00000389902.3_Missense_Mutation_p.F499L NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 442 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TACCTTGTTCAAACTTGAAAT 0.423000 12 246 0 0 0.001368 0 0 GLB1 2720 broad.mit.edu 37 3 33038605 33038605 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:33038605G>A ENST00000307363.5 - 16 2110 c.1966C>T c.(1966-1968)Cct>Tct p.P656S GLB1_ENST00000399402.3_Missense_Mutation_p.P626S|GLB1_ENST00000307377.8_Missense_Mutation_p.P525S|GLB1_ENST00000445488.2_Missense_Mutation_p.P704S NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 656 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) TTTTCAACAGGTTTGGAGGGA 0.493000 31 67 0 0 0.002096 0 0 DSC3 1825 broad.mit.edu 37 18 28598187 28598187 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:28598187C>T ENST00000434452.1 - 9 1267 c.1113G>A c.(1111-1113)gtG>gtA p.V371V DSC3_ENST00000360428.4_Silent_p.V371V NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 371 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GTAAGATTTCCACATTGAATG 0.274000 12 29 0 0 0.000978 0 0 PADI4 23569 broad.mit.edu 37 1 17657546 17657546 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:17657546A>C ENST00000375448.4 + 2 201 c.175A>C c.(175-177)Aag>Cag p.K59Q AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Missense_Mutation_p.K59Q NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 59 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCCTCCAGCCAAGAAGAAATC 0.602000 18 36 0 0 0.007413 0 0 SSPO 23145 broad.mit.edu 37 7 149490420 149490420 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:149490420G>A ENST00000378016.2 + 0 5896 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCTGTGAGGGGTGTGAGCA 0.647000 8 22 0 0 0.000673 0 0 PSAT1 29968 broad.mit.edu 37 9 80921351 80921351 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:80921351G>A ENST00000376588.3 + 5 587 c.519G>A c.(517-519)ctG>ctA p.L173L PSAT1_ENST00000347159.2_Silent_p.L173L NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 173 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) GAGCAGTACTGGTTTGTGACA 0.502000 256 36 0 0 0.003610 0 0 RAB5B 5869 broad.mit.edu 37 12 56380879 56380879 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:56380879C>T ENST00000360299.5 + 2 356 c.135C>T c.(133-135)ttC>ttT p.F45F RAB5B_ENST00000448789.2_Silent_p.F45F|RAB5B_ENST00000553116.1_Silent_p.F45F NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 45 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) AAGGGCAGTTCCATGAGTACC 0.458000 25 48 0 0 0.002445 0 0 PARP8 79668 broad.mit.edu 37 5 50118184 50118184 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:50118184C>T ENST00000281631.5 + 17 1968 c.1810C>T c.(1810-1812)Cga>Tga p.R604* PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Nonsense_Mutation_p.R583*|PARP8_ENST00000514342.2_Nonsense_Mutation_p.R315*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.R604*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.R562*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.R562* NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 604 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GAACTATGATCGAGTAATGAA 0.303000 48 112 0 0 0.003610 0 0 COL25A1 84570 broad.mit.edu 37 4 109765723 109765723 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:109765723G>A ENST00000399132.1 - 30 2111 c.1581C>T c.(1579-1581)atC>atT p.I527I COL25A1_ENST00000399127.1_Silent_p.I500I|COL25A1_ENST00000399126.1_Silent_p.I527I NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 527 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) gtgggcctATGATCTGTATGT 0.438000 26 35 0 0 0.006320 0 0 DNAH1 25981 broad.mit.edu 37 3 52387454 52387454 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:52387454C>T ENST00000420323.2 + 20 3546 c.3285C>T c.(3283-3285)atC>atT p.I1095I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1095 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AACCATACATCCCACTGATCC 0.602000 26 62 0 0 0.006320 0 0 TOX2 84969 broad.mit.edu 37 20 42682973 42682973 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:42682973G>A ENST00000358131.5 + 5 921 c.713G>A c.(712-714)gGa>gAa p.G238E TOX2_ENST00000423191.1_Missense_Mutation_p.G187E|TOX2_ENST00000372999.1_Missense_Mutation_p.G187E|TOX2_ENST00000341197.3_Missense_Mutation_p.G229E|TOX2_ENST00000435864.2_Missense_Mutation_p.G107E NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCCGACCCAGGAAAAAAGGCC 0.537000 6 12 0 0 0.001168 0 0 OCIAD2 132299 broad.mit.edu 37 4 48894788 48894788 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:48894788C>T ENST00000508632.1 - 6 616 c.e6+1 OCIAD2_ENST00000273860.4_Intron|OCIAD2_ENST00000508069.2_Splice_Site NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 AGATTACAAACCTGTTATGCT 0.328000 50 297 0 0 0.003610 0 0 DCDC1 341019 broad.mit.edu 37 11 30925117 30925117 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:30925117A>G ENST00000597505.1 - 30 4421 c.4422T>C c.(4420-4422)gaT>gaC p.D1474D DCDC1_ENST00000406071.2_Silent_p.D209D|DCDC1_ENST00000339794.5_Silent_p.D553D P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GAAAGGATTCATCTAGAGCCC 0.433000 6 9 0 0 0.001168 0 0 ITIH6 347365 broad.mit.edu 37 X 54783453 54783453 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:54783453G>A ENST00000218436.6 - 8 3083 c.3054C>T c.(3052-3054)ttC>ttT p.F1018F NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1018 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AGGACTCCACGAACTTGGATT 0.522000 14 0 0 0 0.004990 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273392 139273392 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:139273392G>A ENST00000298532.2 - 21 3255 c.2887C>T c.(2887-2889)Cct>Tct p.P963S NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 963 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GAAGTGCCAGGTTTGGCTGCC 0.667000 13 12 0 0 0.001368 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622455 234622455 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:234622455T>C ENST00000373414.3 + 1 818 c.818T>C c.(817-819)aTg>aCg p.M273T UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ATGCCCAACATGGTCTTCATT 0.502000 10 34 0 0 0.002780 0 0 TANC2 26115 broad.mit.edu 37 17 61499273 61499273 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:61499273C>T ENST00000424789.2 + 25 5934 c.5930C>T c.(5929-5931)tCc>tTc p.S1977F RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1987F NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1977 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GGGCAGACATCCCCTATCAAA 0.502000 19 68 0 0 0.007413 0 0 TRMT44 152992 broad.mit.edu 37 4 8472850 8472850 + Missense_Mutation SNP C C T rs146322919 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:8472850C>T ENST00000389737.4 + 10 1967 c.1967C>T c.(1966-1968)aCg>aTg p.T656M NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) GAGCTGGACACGGAGACCCTG 0.567000 34 217 0 0 0.003755 0 0 PLA1A 51365 broad.mit.edu 37 3 119328383 119328383 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:119328383G>A ENST00000273371.4 + 4 594 c.522G>A c.(520-522)atG>atA p.M174I PLA1A_ENST00000495992.1_Missense_Mutation_p.M158I|PLA1A_ENST00000488919.1_Start_Codon_SNP_p.M1I|PLA1A_ENST00000494440.1_Missense_Mutation_p.M158I NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 174 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TTGGGGGCATGGTGGGACAGC 0.562000 31 92 0 0 0.004289 0 0 CUX2 23316 broad.mit.edu 37 12 111785550 111785550 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:111785550C>T ENST00000261726.6 + 22 4036 c.3882C>T c.(3880-3882)gcC>gcT p.A1294A NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1294 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGGACAAGGCCCAAGTGAGGA 0.607000 5 28 0 0 0.001168 0 0 PMS2 5395 broad.mit.edu 37 7 6027010 6027010 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:6027010G>A ENST00000265849.7 - 11 1491 c.1386C>T c.(1384-1386)atC>atT p.I462I PMS2_ENST00000406569.3_Silent_p.I462I|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Silent_p.I356I|PMS2_ENST00000382321.4_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 462 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CTTTGTCAGAGATGGCACCTG 0.557000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 21 341 0 0 0.002780 0 0 TRIM6 117854 broad.mit.edu 37 11 5631789 5631789 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:5631789G>A ENST00000380097.3 + 7 1225 c.983G>A c.(982-984)tGg>tAg p.W328* TRIM6_ENST00000380107.1_Nonsense_Mutation_p.W274*|TRIM6_ENST00000515022.1_Nonsense_Mutation_p.W125*|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Nonsense_Mutation_p.W125*|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_Nonsense_Mutation_p.W125*|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000445329.1_Nonsense_Mutation_p.W125*|TRIM6-TRIM34_ENST00000354852.5_Nonsense_Mutation_p.W328*|TRIM6_ENST00000278302.5_Nonsense_Mutation_p.W300* NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) CAAAGCTACTGGGGTAAGTAG 0.463000 28 32 0 0 0.004289 0 0 DUOX2 50506 broad.mit.edu 37 15 45394107 45394107 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:45394107C>T ENST00000389039.6 - 21 3120 c.2735G>A c.(2734-2736)gGa>gAa p.G912E DUOX2_ENST00000603300.1_Missense_Mutation_p.G912E Q9NRD8 DUOX2_HUMAN dual oxidase 2 912 EF-hand 3. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GTCCTGGAATCCCGACTCCCG 0.572000 15 21 0 0 0.004990 0 0 PTPRK 5796 broad.mit.edu 37 6 128306886 128306886 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:128306886G>A ENST00000368227.3 - 23 3648 c.3282C>T c.(3280-3282)ggC>ggT p.G1094G PTPRK_ENST00000368207.3_Silent_p.G1109G|PTPRK_ENST00000368210.3_Silent_p.G1095G|PTPRK_ENST00000368226.4_Silent_p.G1077G|PTPRK_ENST00000532331.1_Silent_p.G1099G|PTPRK_ENST00000368215.3_Silent_p.G1076G|PTPRK_ENST00000368213.5_Silent_p.G1083G Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1076 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CAACGATGGGGCCAGCACTGG 0.483000 17 24 0 0 0.004007 0 0 OC90 729330 broad.mit.edu 37 8 133048632 133048632 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:133048632G>C ENST00000262283.5 - 13 1400 c.1301C>G c.(1300-1302)aCt>aGt p.T434S OC90_ENST00000603859.1_Intron|OC90_ENST00000443356.2_Missense_Mutation_p.T238S|OC90_ENST00000254627.3_Intron Q02509 OC90_HUMAN otoconin 90 238 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CTTGGAGAGAGTGATCAGTCT 0.443000 15 142 0 0 0.007413 0 0 DGAT2 84649 broad.mit.edu 37 11 75501774 75501774 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:75501774C>T ENST00000228027.7 + 4 687 c.427C>T c.(427-429)Cag>Tag p.Q143* DGAT2_ENST00000376262.3_Nonsense_Mutation_p.Q100* NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 143 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) CTTTCCCATCCAGGTAAAGTG 0.517000 18 66 0 0 0.001523 0 0 RNF122 79845 broad.mit.edu 37 8 33406360 33406360 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:33406360G>A ENST00000256257.1 - 6 780 c.379C>T c.(379-381)Cgc>Tgc p.R127C NM_024787.2 NP_079063.2 Q9H9V4 RN122_HUMAN ring finger protein 122 127 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding p.R127C(1) endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) CAGACACAGCGAACTTCCAGC 0.498000 60 120 0 0 0.003610 0 0 NLRP11 204801 broad.mit.edu 37 19 56321526 56321526 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:56321526G>A ENST00000443188.1 - 5 1160 c.450C>T c.(448-450)ttC>ttT p.F150F NLRP11_ENST00000592953.1_Silent_p.F51F|NLRP11_ENST00000360133.3_Silent_p.F150F|NLRP11_ENST00000589824.2_Silent_p.F150F|NLRP11_ENST00000589093.1_Silent_p.F150F NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 150 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTCCCATCAGGAACACATTGA 0.393000 17 22 0 0 0.006122 0 0 KDR 3791 broad.mit.edu 37 4 55984928 55984928 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:55984928C>T ENST00000263923.4 - 3 496 c.201G>A c.(199-201)caG>caA p.Q67Q NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 67 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CACTGCCACTCTGATTATTGG 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 19 137 0 0 0.002780 0 0 C3orf20 84077 broad.mit.edu 37 3 14744762 14744762 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:14744762C>T ENST00000253697.3 + 6 1323 c.871C>T c.(871-873)Cgc>Tgc p.R291C C3orf20_ENST00000412910.1_Missense_Mutation_p.R169C|C3orf20_ENST00000435614.1_Missense_Mutation_p.R169C NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 291 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GGAGTTGTGTCGCCACATGTG 0.627000 35 67 0 0 0.004878 0 0 ESRP1 54845 broad.mit.edu 37 8 95680371 95680371 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:95680371C>T ENST00000433389.2 + 10 1316 c.1126C>T c.(1126-1128)Ctc>Ttc p.L376F ESRP1_ENST00000454170.2_Missense_Mutation_p.L376F|ESRP1_ENST00000423620.2_Missense_Mutation_p.L376F|ESRP1_ENST00000358397.5_Missense_Mutation_p.L376F NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 376 RRM 2. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CGCTTTTGTCCTCTTTGCCTG 0.488000 179 684 0 0 0.003610 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676382 65676382 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:65676382C>T ENST00000352385.2 - 20 3927 c.3718G>A c.(3718-3720)Ggc>Agc p.G1240S IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1240 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CTGGGCAGGCCTGGGCTGGCT 0.622000 10 24 0 0 0.002450 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999086 143999086 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:143999086C>T ENST00000323110.2 - 1 173 c.171G>A c.(169-171)agG>agA p.R57R NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 57 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AACCCTGCTCCCTCCAGATCT 0.632000 Familial Hyperaldosteronism type I 41 79 0 0 0.006230 0 0 C19orf44 84167 broad.mit.edu 37 19 16613942 16613942 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:16613942A>C ENST00000221671.3 + 3 982 c.826A>C c.(826-828)Aca>Cca p.T276P CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.T276P NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 276 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 GCCTTCTCAGACATCACACCT 0.502000 26 30 0 0 0.001512 0 0 LRP1B 53353 broad.mit.edu 37 2 141607881 141607881 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:141607881G>A ENST00000389484.3 - 29 5700 c.4729C>T c.(4729-4731)Ctt>Ttt p.L1577F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1577 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTGCATAAAGAAGAAATTTT 0.303000 TSP Lung(27;0.18) 11 10 0 0 0.000978 0 0 COL12A1 1303 broad.mit.edu 37 6 75858113 75858113 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:75858113C>T ENST00000322507.8 - 22 4557 c.4248G>A c.(4246-4248)aaG>aaA p.K1416K COL12A1_ENST00000483888.2_Silent_p.K1416K|COL12A1_ENST00000345356.6_Silent_p.K252K|COL12A1_ENST00000416123.2_Silent_p.K1416K NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1416 Fibronectin type-III 9. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AGTATTCCACCTTATATCGAT 0.433000 18 20 0 0 0.004990 0 0 TTLL8 164714 broad.mit.edu 37 22 50470225 50470225 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:50470225G>A ENST00000266182.6 - 11 1596 c.1597C>T c.(1597-1599)Ccg>Tcg p.P533S TTLL8_ENST00000440475.1_Missense_Mutation_p.P513S tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GGCGTGGACGGGTGCATGGTG 0.622000 10 79 0 0 0.000673 0 0 CCR3 1232 broad.mit.edu 37 3 46307396 46307396 + Silent SNP C C T rs76939117 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:46307396C>T ENST00000357422.2 + 4 1290 c.747C>T c.(745-747)ttC>ttT p.F249F CCR3_ENST00000545097.1_Silent_p.F270F|CCR3_ENST00000395942.2_Silent_p.F249F|CCR3_ENST00000395940.2_Silent_p.F249F|CCR3_ENST00000541018.1_Silent_p.F249F P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 249 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CGGTGTTTTTCATTTTCTGGA 0.458000 17 60 0 0 0.001216 0 0 LY75 4065 broad.mit.edu 37 2 160667116 160667116 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:160667116G>A ENST00000263636.4 - 32 4647 c.4620C>T c.(4618-4620)atC>atT p.I1540I LY75_ENST00000553424.1_Silent_p.I1540I|LY75_ENST00000554112.1_Silent_p.I1540I|LY75-CD302_ENST00000504764.1_Silent_p.I1540I|LY75-CD302_ENST00000505052.1_Silent_p.I1540I 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) CCTTGTACTGGATCCACCGTG 0.383000 79 101 0 0 0.003610 0 0 LILRB1 10859 broad.mit.edu 37 19 55144102 55144102 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55144102C>T ENST00000396331.1 + 7 1206 c.849C>T c.(847-849)acC>acT p.T283T LILRB1_ENST00000418536.2_Silent_p.T283T|LILRB1_ENST00000396317.1_Silent_p.T283T|LILRB1_ENST00000396321.2_Silent_p.T283T|LILRB1_ENST00000434867.2_Silent_p.T283T|LILRB1_ENST00000324602.7_Silent_p.T283T|LILRB1_ENST00000427581.2_Silent_p.T319T|LILRB1_ENST00000396332.4_Silent_p.T283T|LILRB1_ENST00000448689.1_Silent_p.T283T|LILRB1_ENST00000396315.1_Silent_p.T283T|LILRB1_ENST00000396327.3_Silent_p.T283T NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 283 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCAACTTCACCCTGGGCCCTG 0.632000 HNSCC(37;0.09) 21 56 0 0 0.001523 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482458 152482458 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:152482458C>T ENST00000356661.5 - 3 771 c.553G>A c.(553-555)Gat>Aat p.D185N NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 185 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATCTGATTATCACCCAGCAGG 0.547000 42 6 0 0 0.003610 0 0 SCFD1 23256 broad.mit.edu 37 14 31144256 31144256 + Silent SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:31144256T>G ENST00000458591.2 + 14 1454 c.1227T>G c.(1225-1227)gtT>gtG p.V409V SCFD1_ENST00000541123.1_Silent_p.V224V|SCFD1_ENST00000544052.2_Silent_p.V342V|SCFD1_ENST00000396629.2_Silent_p.V317V|SCFD1_ENST00000421551.3_Silent_p.V350V NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 409 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) CCACTGCTGTTTTAGAACATA 0.303000 25 27 0 0 0.001512 0 0 BCL2L1 598 broad.mit.edu 37 20 30309749 30309749 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:30309749C>T ENST00000307677.4 - 2 683 c.273G>A c.(271-273)agG>agA p.R91R BCL2L1_ENST00000420653.1_Silent_p.R91R|BCL2L1_ENST00000376055.4_Silent_p.R91R|BCL2L1_ENST00000376062.2_Silent_p.R91R NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 91 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CGCCTGCCTCCCTCAGCGCTT 0.607000 18 66 0 0 0.003330 0 0 LRFN2 57497 broad.mit.edu 37 6 40400350 40400350 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:40400350G>A ENST00000338305.6 - 2 1045 c.503C>T c.(502-504)tCc>tTc p.S168F NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 168 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GCGTCGCACGGAGTCCCACGG 0.607000 28 112 0 0 0.006320 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010861 59010861 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:59010861G>A ENST00000263093.2 - 7 1774 c.1665C>T c.(1663-1665)ttC>ttT p.F555F SLC27A5_ENST00000601355.1_Silent_p.F471F NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 555 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CCTCGGACCGGAAGGTGTCCC 0.657000 12 66 0 0 0.001855 0 0 HTT 3064 broad.mit.edu 37 4 3237335 3237335 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:3237335C>T ENST00000355072.5 + 63 8760 c.8615C>T c.(8614-8616)tCc>tTc p.S2872F NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2872 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TCCACCCCCTCCATCATTTAC 0.577000 6 66 0 0 0.004482 0 0 GPR61 83873 broad.mit.edu 37 1 110085663 110085663 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:110085663C>T ENST00000527748.1 + 2 702 c.19C>T c.(19-21)Ccc>Tcc p.P7S RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 7 integral to membrane|plasma membrane G-protein coupled receptor activity p.P7S(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CTCACCCATCCCCCAGTCATC 0.647000 11 15 0 0 0.000978 0 0 MYO6 4646 broad.mit.edu 37 6 76551093 76551093 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:76551093C>T ENST00000369981.3 + 9 1093 c.814C>T c.(814-816)Cgg>Tgg p.R272W MYO6_ENST00000369985.4_Missense_Mutation_p.R272W|MYO6_ENST00000369977.3_Missense_Mutation_p.R272W|MYO6_ENST00000369975.1_Missense_Mutation_p.R272W Q9UM54 MYO6_HUMAN myosin VI 272 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AGATAATTTTCGGGTAGGTCA 0.413000 13 21 0 0 0.001368 0 0 TOMM70A 9868 broad.mit.edu 37 3 100100601 100100601 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:100100601C>T ENST00000284320.5 - 5 1190 c.742G>A c.(742-744)Gaa>Aaa p.E248K NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 248 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 ATCAGAGGTTCACGATTCTGA 0.373000 12 32 0 0 0.001368 0 0 GPR174 84636 broad.mit.edu 37 X 78427122 78427122 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:78427122G>A ENST00000276077.1 + 1 654 c.618G>A c.(616-618)tgG>tgA p.W206* NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 206 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 ATTGTACCTGGAAGACGGTTT 0.453000 HNSCC(63;0.18) 29 2 0 0 0.005443 0 0 HTR3D 200909 broad.mit.edu 37 3 183756374 183756374 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183756374G>A ENST00000382489.3 + 7 1097 c.1097G>A c.(1096-1098)gGa>gAa p.G366E HTR3D_ENST00000428798.2_Missense_Mutation_p.G316E|HTR3D_ENST00000334128.2_Missense_Mutation_p.G191E|HTR3D_ENST00000453435.1_Missense_Mutation_p.G145E NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 366 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCCCAGAAGGGAAATAAGGGC 0.657000 6 18 0 0 0.001984 0 0 GYG1 2992 broad.mit.edu 37 3 148744726 148744726 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:148744726C>G ENST00000484197.1 + 6 871 c.788C>G c.(787-789)aCt>aGt p.T263S GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_3'UTR|GYG1_ENST00000345003.4_3'UTR NM_001184721.1 NP_001171650.1 P46976 GLYG_HUMAN glycogenin 1 0 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGTAGAAACACTGCATTTTTC 0.428000 13 69 0 0 0.004007 0 0 OPRK1 4986 broad.mit.edu 37 8 54142080 54142080 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:54142080G>A ENST00000265572.3 - 4 1217 c.920C>T c.(919-921)gCt>gTt p.A307V RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.A218V|OPRK1_ENST00000520287.1_Missense_Mutation_p.A307V NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 307 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GGAGAGAGCAGCTGTGCTGTG 0.527000 28 42 0 0 0.006320 0 0 TCERG1L 256536 broad.mit.edu 37 10 133107460 133107460 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:133107460G>A ENST00000368642.4 - 2 530 c.445C>T c.(445-447)Cct>Tct p.P149S NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 149 WW 1. cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TTCCCAATAGGGGTTGCAAGA 0.478000 15 22 0 0 0.004007 0 0 PCDH9 5101 broad.mit.edu 37 13 66878807 66878807 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:66878807G>T ENST00000544246.1 - 5 4385 c.3694C>A c.(3694-3696)Cct>Act p.P1232T PCDH9_ENST00000456367.1_Missense_Mutation_p.P1198T|PCDH9_ENST00000328454.5_Missense_Mutation_p.P1198T|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.P1232T NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1232 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TGCTCCTTAGGACTCTCAGTA 0.423000 17 31 5.3912e-06 9.15993e-06 0.006122 1 0 EFCAB6 64800 broad.mit.edu 37 22 44168800 44168800 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:44168800C>T ENST00000262726.7 - 4 576 c.323G>A c.(322-324)cGa>cAa p.R108Q EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000356087.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AAACTGTTCTCGTGTGAGCGG 0.463000 21 20 0 0 0.002299 0 0 CR1 1378 broad.mit.edu 37 1 207785184 207785184 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:207785184C>T ENST00000367049.4 + 38 6458 c.6458C>T c.(6457-6459)gCc>gTc p.A2153V CR1_ENST00000367052.1_Missense_Mutation_p.A1703V|CR1_ENST00000367053.1_Missense_Mutation_p.A1703V|CR1_ENST00000400960.2_Missense_Mutation_p.A1703V|CR1_ENST00000367051.1_Missense_Mutation_p.A1703V NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1703 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGCCCTGAAGCCCCTAGATGT 0.532000 35 135 0 0 0.005524 0 0 CCDC170 80129 broad.mit.edu 37 6 151917610 151917610 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:151917610G>A ENST00000367290.5 + 9 1697 c.1608G>A c.(1606-1608)agG>agA p.R536R CCDC170_ENST00000239374.7_Silent_p.R536R Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 536 TTACCATCAGGAACTTGCAGA 0.557000 24 39 0 0 0.002780 0 0 KALRN 8997 broad.mit.edu 37 3 124418856 124418856 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:124418856G>A ENST00000360013.3 + 56 8099 c.7972G>A c.(7972-7974)Gag>Aag p.E2658K KALRN_ENST00000428018.2_Missense_Mutation_p.E929K|KALRN_ENST00000291478.4_Missense_Mutation_p.E961K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2657 Fibronectin type-III. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGAGCCCTCGGAGTTTGTGCG 0.597000 38 98 0 0 0.002522 0 0 IL7R 3575 broad.mit.edu 37 5 35875626 35875626 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:35875626C>T ENST00000343305.4 + 6 808 c.719C>T c.(718-720)tCg>tTg p.S240L IL7R_ENST00000303115.3_Silent_p.I271I|IL7R_ENST00000506850.1_Missense_Mutation_p.S240L P16871 IL7RA_HUMAN interleukin 7 receptor 0 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TTAAGCCTATCGTATGGCCCA 0.433000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 43 15 0 0 0.002222 0 0 TTBK1 84630 broad.mit.edu 37 6 43225664 43225664 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43225664C>T ENST00000259750.4 + 10 1059 c.976C>T c.(976-978)Ccg>Tcg p.P326S TTBK1_ENST00000304139.5_Missense_Mutation_p.P275S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 326 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CACCTCTACCCCGCCCCAGCA 0.617000 9 80 0 0 0.001855 0 0 CCKBR 887 broad.mit.edu 37 11 6292161 6292161 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:6292161G>A ENST00000525462.1 + 4 942 c.939G>A c.(937-939)tgG>tgA p.W313* CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron P32239 GASR_HUMAN cholecystokinin B receptor 266 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AGTTGAGCTGGGAGCGGAGGT 0.632000 4 5 0 0 0.000248 0 0 F9 2158 broad.mit.edu 37 X 138623299 138623299 + Silent SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:138623299C>G ENST00000218099.2 + 4 349 c.342C>G c.(340-342)tcC>tcG p.S114S F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Intron NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 114 EGF-like 1; calcium-binding (Potential). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ACATTAATTCCTATGAATGTT 0.368000 22 4 0 0 0.002780 0 0 SPPL2A 84888 broad.mit.edu 37 15 51040393 51040393 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:51040393G>A ENST00000261854.5 - 4 641 c.367C>T c.(367-369)Ccc>Tcc p.P123S RP11-507J18.2_ENST00000558317.1_RNA NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 123 PA. integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) TTACCTGAGGGAGGAAACTAA 0.249000 5 6 0 0 0.000602 0 0 MAS1L 116511 broad.mit.edu 37 6 29455262 29455262 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29455262C>T ENST00000377127.3 - 1 476 c.418G>A c.(418-420)Gga>Aga p.G140R NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 140 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 AACACGACTCCATGATAAGTT 0.507000 21 59 0 0 0.001882 0 0 MRC2 9902 broad.mit.edu 37 17 60749032 60749032 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:60749032G>A ENST00000303375.5 + 7 1542 c.1140G>A c.(1138-1140)gtG>gtA p.V380V NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 380 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 ATGTGAAGGTGGAGTGCGAGC 0.642000 18 36 0 0 0.006122 0 0 ACSL6 23305 broad.mit.edu 37 5 131309017 131309017 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:131309017G>A ENST00000379264.2 - 12 1253 c.1145C>T c.(1144-1146)gCt>gTt p.A382V ACSL6_ENST00000543479.1_Missense_Mutation_p.A357V|ACSL6_ENST00000357096.1_Missense_Mutation_p.A282V|ACSL6_ENST00000544770.1_Missense_Mutation_p.A266V|ACSL6_ENST00000379249.3_Missense_Mutation_p.A357V|ACSL6_ENST00000379255.1_Missense_Mutation_p.A282V|ACSL6_ENST00000379246.1_Missense_Mutation_p.A368V|ACSL6_ENST00000296869.4_Missense_Mutation_p.A382V|ACSL6_ENST00000431707.1_Missense_Mutation_p.A337V|ACSL6_ENST00000379240.1_Missense_Mutation_p.A357V|ACSL6_ENST00000379244.1_Missense_Mutation_p.A357V|ACSL6_ENST00000379272.2_Missense_Mutation_p.A372V NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 357 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGGGCATAGAGCCTTCATGTC 0.557000 24 75 0 0 0.004656 0 0 ROM1 6094 broad.mit.edu 37 11 62382274 62382274 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:62382274G>A ENST00000278833.3 + 3 1560 c.1019G>A c.(1018-1020)gGa>gAa p.G340E ROM1_ENST00000534093.1_3'UTR NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 340 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 GCCCCACCAGGAGAAGCACCT 0.572000 12 20 0 0 0.003163 0 0 CDK20 23552 broad.mit.edu 37 9 90586062 90586062 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:90586062C>T ENST00000375883.3 - 3 684 c.378_splice c.e3+1 p.R126_splice CDK20_ENST00000605159.1_Splice_Site_p.R126_splice|CDK20_ENST00000325303.8_Splice_Site_p.R126_splice|CDK20_ENST00000336654.5_Splice_Site_p.R139_splice|CDK20_ENST00000375871.4_Splice_Site_p.R126_splice NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 126 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 TGAGACTGACCCGATGTACAA 0.577000 8 13 0 0 0.004482 0 0 GTF3C1 2975 broad.mit.edu 37 16 27481569 27481569 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:27481569G>A ENST00000356183.4 - 31 4689 c.4674C>T c.(4672-4674)gcC>gcT p.A1558A GTF3C1_ENST00000561623.1_Silent_p.A1558A NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1558 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCAGTGAAAAGGCCACCATGT 0.537000 38 99 0 0 0.003755 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129810120 129810120 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:129810120G>A ENST00000514010.1 - 0 248 ALG1L2_ENST00000507643.1_RNA GACCGTCTACGACAAGCCGGC 0.552000 11 22 0 0 0.000978 0 0 KIAA1109 84162 broad.mit.edu 37 4 123207824 123207824 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:123207824G>A ENST00000264501.4 + 53 9539 c.9166G>A c.(9166-9168)Ggg>Agg p.G3056R KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3056R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3056R Q2LD37 K1109_HUMAN KIAA1109 3056 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TACCATGTCAGGGAAATATAT 0.393000 31 42 0 0 0.003755 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38411496 38411496 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:38411496G>A ENST00000377694.1 - 4 760 c.738C>T c.(736-738)gcC>gcT p.A246A NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 246 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) CCACCATGTTGGCTGCATGGC 0.488000 18 38 0 0 0.001216 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037197 129037197 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:129037197G>A ENST00000274487.4 + 20 3198 c.3053G>A c.(3052-3054)aGg>aAg p.R1018K CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1018 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCCCGAGAGAGGGACTGCATT 0.582000 16 79 0 0 0.001216 0 0 FCRL1 115350 broad.mit.edu 37 1 157772381 157772381 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:157772381G>A ENST00000358292.3 - 4 444 c.393C>T c.(391-393)gtC>gtT p.V131V FCRL1_ENST00000368176.3_Silent_p.V131V|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.V131V NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 131 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGCAGATGAGGACCAGCCTGT 0.537000 41 12 0 0 0.001951 0 0 TIAM1 7074 broad.mit.edu 37 21 32639272 32639272 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:32639272C>T ENST00000286827.3 - 5 488 c.17G>A c.(16-18)aGt>aAt p.S6N TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S6N NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 6 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TACATGTTGACTTTCTGCGTT 0.532000 15 55 0 0 0.006122 0 0 CSMD1 64478 broad.mit.edu 37 8 3087615 3087615 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:3087615C>G ENST00000520002.1 - 28 4850 c.4295G>C c.(4294-4296)tGt>tCt p.C1432S CSMD1_ENST00000542608.1_Missense_Mutation_p.C1431S|CSMD1_ENST00000539096.1_Missense_Mutation_p.C1431S|CSMD1_ENST00000537824.1_Missense_Mutation_p.C1431S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.C1432S|CSMD1_ENST00000602557.1_Missense_Mutation_p.C1432S|CSMD1_ENST00000400186.3_Missense_Mutation_p.C1432S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1432 Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGCTGCACACAGGTGATTTT 0.478000 16 61 0 0 0.001523 0 0 CHODL 140578 broad.mit.edu 37 21 19629303 19629303 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:19629303G>A ENST00000299295.2 + 3 797 c.406G>A c.(406-408)Gaa>Aaa p.E136K CHODL_ENST00000400135.1_Missense_Mutation_p.E95K|CHODL_ENST00000543733.1_Missense_Mutation_p.E117K|CHODL_ENST00000400127.1_Missense_Mutation_p.E95K|CHODL_ENST00000400128.1_Missense_Mutation_p.E95K|CHODL_ENST00000338326.3_Missense_Mutation_p.E95K|CHODL_ENST00000400131.1_Missense_Mutation_p.E95K NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 136 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding p.E136*(1) kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) GTACACAGATGAACCTTCCTG 0.463000 21 40 0 0 0.001882 0 0 WBP2 23558 broad.mit.edu 37 17 73844682 73844682 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:73844682G>A ENST00000591399.1 - 5 790 c.366C>T c.(364-366)ttC>ttT p.F122F WBP2_ENST00000590221.1_Silent_p.F122F|WBP2_ENST00000585462.1_Silent_p.F100F|WBP2_ENST00000344296.4_Silent_p.F100F|WBP2_ENST00000254806.3_Silent_p.F122F|WBP2_ENST00000433525.2_Silent_p.F122F Q969T9 WBP2_HUMAN WW domain binding protein 2 122 protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCGCTGTCCGAACTCAATGG 0.512000 OREG0024743 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 18 0 0 0.000978 0 0 CTNND2 1501 broad.mit.edu 37 5 10973618 10973618 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:10973618C>T ENST00000304623.8 - 22 3814 c.3625G>A c.(3625-3627)Gaa>Aaa p.E1209K CTNND2_ENST00000458100.2_Missense_Mutation_p.E776K|CTNND2_ENST00000511377.1_Missense_Mutation_p.E1118K|CTNND2_ENST00000503622.1_Missense_Mutation_p.E872K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E1151K NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1209 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TAGTTCAGTTCACTGTAGGGA 0.612000 18 53 0 0 0.007413 0 0 SLIT2 9353 broad.mit.edu 37 4 20255468 20255468 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:20255468C>T ENST00000504154.1 + 1 282 c.30C>T c.(28-30)tcC>tcT p.S10S SLIT2_ENST00000503837.1_Silent_p.S10S|SLIT2_ENST00000503823.1_Silent_p.S10S|SLIT2_ENST00000273739.5_Silent_p.S10S NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 10 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGATGCTGTCCCTGTCGCTGG 0.672000 25 111 0 0 0.003954 0 0 KLHL6 89857 broad.mit.edu 37 3 183273311 183273311 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183273311C>T ENST00000341319.3 - 1 166 c.131G>A c.(130-132)gGg>gAg p.G44E NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 44 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GACCTTTTCCCCATTTAAGAT 0.498000 34 110 0 0 0.003271 0 0 PDZD3 79849 broad.mit.edu 37 11 119059864 119059864 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:119059864G>A ENST00000531114.1 + 8 2185 c.1636G>A c.(1636-1638)Gcc>Acc p.A546T PDZD3_ENST00000355547.5_Missense_Mutation_p.A480T|PDZD3_ENST00000392817.2_Missense_Mutation_p.A546T|PDZD3_ENST00000525131.1_Missense_Mutation_p.A467T|PDZD3_ENST00000322712.4_Missense_Mutation_p.A466T Q86UT5 NHRF4_HUMAN PDZ domain containing 3 546 PDZ 4. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) GAAGCTGGCAGCCAGGTCTCT 0.597000 7 9 0 0 0.001984 0 0 PRRC2A 7916 broad.mit.edu 37 6 31594583 31594583 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31594583C>T ENST00000376033.2 + 10 1251 c.1017C>T c.(1015-1017)ctC>ctT p.L339L PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Silent_p.L339L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 339 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTGAAAAGCTCAAGTTCAGCG 0.527000 5 43 0 0 0.001984 0 0 MS4A6A 64231 broad.mit.edu 37 11 59949119 59949119 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:59949119C>T ENST00000528851.1 - 2 222 c.82G>A c.(82-84)Gaa>Aaa p.E28K MS4A6A_ENST00000533023.1_Missense_Mutation_p.E28K|MS4A6A_ENST00000530839.1_Missense_Mutation_p.E28K|MS4A6A_ENST00000529054.1_Missense_Mutation_p.E56K|MS4A6A_ENST00000420732.2_Missense_Mutation_p.E28K|MS4A6A_ENST00000426738.2_Missense_Mutation_p.E28K|MS4A6A_ENST00000323961.3_Missense_Mutation_p.E28K|MS4A6A_ENST00000412309.2_Missense_Mutation_p.E56K|MS4A6A_ENST00000532169.1_Missense_Mutation_p.E28K Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 28 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGGTGGGTTCGGGTTTCTCT 0.463000 40 59 0 0 0.002522 0 0 EMR1 2015 broad.mit.edu 37 19 6908774 6908774 + Silent SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:6908774T>A ENST00000312053.4 + 10 1150 c.1113T>A c.(1111-1113)gtT>gtA p.V371V EMR1_ENST00000381404.4_Silent_p.V319V|EMR1_ENST00000450315.3_Silent_p.V194V|EMR1_ENST00000250572.8_Silent_p.V371V|EMR1_ENST00000381407.5_Silent_p.V230V NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 371 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CGACCGTAGTTTCTCTGAAGG 0.398000 24 29 0 0 0.003330 0 0 OR52E4 390081 broad.mit.edu 37 11 5905976 5905976 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:5905976G>A ENST00000316987.2 + 1 476 c.454G>A c.(454-456)Gga>Aga p.G152R NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGGTTGTTGGAAGAAATTT 0.463000 30 49 0 0 0.001512 0 0 GPR15 2838 broad.mit.edu 37 3 98251703 98251703 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:98251703C>T ENST00000284311.3 + 1 961 c.826C>T c.(826-828)Ccc>Tcc p.P276S NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 276 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) ACACTATTTACCCTCAGCTAT 0.468000 23 56 0 0 0.005443 0 0 SUCO 51430 broad.mit.edu 37 1 172578958 172578958 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:172578958G>C ENST00000367723.3 + 23 3904 c.3780G>C c.(3778-3780)aaG>aaC p.K1260N SUCO_ENST00000263688.3_Missense_Mutation_p.K1108N NM_016227.2 NP_057311.2 SUN domain containing ossification factor TGTTGTAGAAGAAGCGCTGCA 0.398000 12 39 0 0 0.001855 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924152 105924152 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:105924152G>A ENST00000393359.2 - 2 1033 c.607C>T c.(607-609)Ccc>Tcc p.P203S TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P203S Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 203 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTGCAGTAGGGAAACAGGTCC 0.607000 48 61 0 0 0.003610 0 0 FOXA3 3171 broad.mit.edu 37 19 46375569 46375569 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:46375569G>A ENST00000302177.2 + 2 503 c.306G>A c.(304-306)ggG>ggA p.G102G NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 102 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TGGTGCACGGGAAGGAGATGC 0.687000 15 22 0 0 0.004007 0 0 GON4L 54856 broad.mit.edu 37 1 155796811 155796811 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:155796811G>C ENST00000437809.1 - 3 636 c.514C>G c.(514-516)Caa>Gaa p.Q172E GON4L_ENST00000271883.5_Missense_Mutation_p.Q172E|GON4L_ENST00000361040.5_Missense_Mutation_p.Q172E|GON4L_ENST00000368331.1_Missense_Mutation_p.Q172E|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 172 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GAATTCATTTGAGGTTTCCCT 0.428000 12 69 0 0 0.002450 0 0 ANKAR 150709 broad.mit.edu 37 2 190593472 190593472 + Missense_Mutation SNP C C T rs149050269 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:190593472C>T ENST00000520309.1 + 15 3206 c.3118C>T c.(3118-3120)Cgc>Tgc p.R1040C ANKAR_ENST00000313581.4_Missense_Mutation_p.R1040C|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.R1040C|ANKAR_ENST00000431575.2_Missense_Mutation_p.R969C NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1040 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ACCATTGGTTCGCTTACTAAG 0.393000 26 29 0 0 0.004656 0 0 HOXB13 10481 broad.mit.edu 37 17 46804343 46804343 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:46804343G>A ENST00000290295.7 - 2 1248 c.664C>T c.(664-666)Ccg>Tcg p.P222S NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 222 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 TTGCTGTACGGAATGCGTTTC 0.627000 44 30 0 0 0.002852 0 0 TSPEAR 54084 broad.mit.edu 37 21 45941911 45941911 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:45941911G>A ENST00000323084.4 - 9 1486 c.1421C>T c.(1420-1422)tCc>tTc p.S474F C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.S406F NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 474 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GTAGGCGCCGGAGGTGGCGAT 0.607000 51 63 0 0 0.003610 0 0 CARD11 84433 broad.mit.edu 37 7 2963889 2963889 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2963889A>G ENST00000396946.4 - 15 2321 c.1918T>C c.(1918-1920)Ttc>Ctc p.F640L NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 640 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AACTTCCTGAACATGAGGTTG 0.592000 Mis DLBCL 8 98 0 0 0.003080 0 0 TAAR8 83551 broad.mit.edu 37 6 132874354 132874354 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:132874354G>A ENST00000275200.1 + 1 523 c.523G>A c.(523-525)Ggg>Agg p.G175R NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 175 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CAATGATGATGGGCTGGAGGA 0.468000 61 94 0 0 0.003610 0 0 C20orf26 26074 broad.mit.edu 37 20 20144803 20144803 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:20144803C>T ENST00000245957.5 + 11 1212 c.1136C>T c.(1135-1137)cCc>cTc p.P379L C20orf26_ENST00000377306.1_Missense_Mutation_p.P379L|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P379L|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 379 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CACTTCCGCCCCATCTACAGG 0.498000 21 91 0 0 0.001882 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006361 118006361 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:118006361C>T ENST00000310754.4 - 1 375 c.189G>A c.(187-189)gaG>gaA p.E63E NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 63 protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 TGGCTTGTTCCTCTGCTGCAG 0.493000 12 15 0 0 0.001368 0 0 GYS2 2998 broad.mit.edu 37 12 21733318 21733318 + Silent SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:21733318A>C ENST00000261195.2 - 2 515 c.261T>G c.(259-261)gcT>gcG p.A87A NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 87 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTCTTCTGACAGCATCATTTA 0.418000 41 63 0 0 0.003610 0 0 CDON 50937 broad.mit.edu 37 11 125859626 125859626 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:125859626G>A ENST00000392693.3 - 15 2806 c.2679C>T c.(2677-2679)caC>caT p.H893H CDON_ENST00000263577.7_Silent_p.H893H|CDON_ENST00000531738.1_Silent_p.H270H NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 893 Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CTGGCTGCAGGTGGCCAATCA 0.368000 30 5 0 0 0.006320 0 0 SPTBN4 57731 broad.mit.edu 37 19 41066344 41066344 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:41066344C>T ENST00000595535.1 + 27 6036 c.5950C>T c.(5950-5952)Ccc>Tcc p.P1984S SPTBN4_ENST00000392023.1_Missense_Mutation_p.P660S|SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000392025.1_Intron|SPTBN4_ENST00000352632.3_Intron Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 0 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCCTGCCTCCCCCTGGTGGCC 0.637000 18 9 0 0 0.007413 0 0 DCDC2 51473 broad.mit.edu 37 6 24205394 24205394 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:24205394G>A ENST00000378450.3 - 1 137 c.118C>T c.(118-120)Cca>Tca p.P40S DCDC2_ENST00000378454.3_Intron Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 68 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) CTGAATGCTGGAATTACAATC 0.413000 31 123 0 0 0.001512 0 0 TCAIM 285343 broad.mit.edu 37 3 44434423 44434423 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:44434423C>T ENST00000342649.4 + 6 1076 c.649C>T c.(649-651)Cgt>Tgt p.R217C TCAIM_ENST00000417237.1_Missense_Mutation_p.R217C NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial p.R217C(1) AGAACTAGATCGTTTAAAAGA 0.323000 34 93 0 0 0.002096 0 0 DENND5A 23258 broad.mit.edu 37 11 9164310 9164310 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:9164310G>A ENST00000328194.3 - 21 3790 c.3470C>T c.(3469-3471)tCg>tTg p.S1157L DENND5A_ENST00000530044.1_Missense_Mutation_p.S1157L|DENND5A_ENST00000527700.1_Missense_Mutation_p.S500L NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 1157 RUN 2. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GAGCCGGGGCGATTTAAATCC 0.517000 54 59 0 0 0.003610 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58598357 58598357 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:58598357C>T ENST00000240727.6 - 5 1060 c.661G>A c.(661-663)Gag>Aag p.E221K ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E277K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E221K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E86K NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 221 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TGAGGGTCCTCTGGAAAGGAC 0.637000 8 57 0 0 0.004482 0 0 PDE7B 27115 broad.mit.edu 37 6 136429878 136429878 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:136429878G>A ENST00000308191.6 + 3 395 c.92G>A c.(91-93)cGa>cAa p.R31Q RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 31 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) GGAGATATACGACTAAGGGGT 0.463000 39 42 0 0 0.006230 0 0 USP6 9098 broad.mit.edu 37 17 5036747 5036747 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:5036747C>T ENST00000574788.1 + 14 2516 c.286C>T c.(286-288)Cga>Tga p.R96* USP6_ENST00000332776.4_Nonsense_Mutation_p.R96*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R96*|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_3'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 96 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GCTCATAGATCGAGTGTACAA 0.522000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 26 49 0 0 0.001512 0 0 DYRK2 8445 broad.mit.edu 37 12 68043584 68043584 + Silent SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:68043584T>A ENST00000344096.3 + 2 470 c.57T>A c.(55-57)ggT>ggA p.G19G DYRK2_ENST00000537632.1_3'UTR|DYRK2_ENST00000393555.3_Intron NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 19 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) CAGGCCGAGGTGGGGACAGCG 0.711000 6 16 0 0 0.006214 0 0 PCDH12 51294 broad.mit.edu 37 5 141335404 141335404 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:141335404C>T ENST00000231484.3 - 1 3223 c.2013G>A c.(2011-2013)tgG>tgA p.W671* NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 671 Cadherin 6. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCCAGCTCCCACTCACTCC 0.567000 16 23 0 0 0.004990 0 0 ZNF831 128611 broad.mit.edu 37 20 57769762 57769762 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:57769762G>A ENST00000371030.2 + 1 3688 c.3688G>A c.(3688-3690)Gga>Aga p.G1230R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1230 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GAGCAATGGAGGATGGACCTG 0.607000 6 15 0 0 0.003080 0 0 LGI2 55203 broad.mit.edu 37 4 25030200 25030200 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:25030200C>T ENST00000382114.4 - 2 383 c.197_splice c.e2-1 p.L66_splice NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 66 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TTACCAGGCTCCTACGGGCAA 0.478000 5 43 0 0 0.001168 0 0 NRG1 3084 broad.mit.edu 37 8 32453407 32453407 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:32453407C>T ENST00000341377.5 + 2 679 c.162C>T c.(160-162)gtC>gtT p.V54V NRG1_ENST00000287840.5_Silent_p.V54V|NRG1_ENST00000521670.1_Silent_p.V54V|NRG1_ENST00000405005.2_Silent_p.V54V|NRG1_ENST00000287845.5_Silent_p.V54V|NRG1_ENST00000287842.3_Silent_p.V54V|NRG1_ENST00000338921.4_Silent_p.V54V|NRG1_ENST00000523079.1_Silent_p.V54V|NRG1_ENST00000519301.1_Silent_p.V33V|NRG1_ENST00000356819.4_Silent_p.V54V|NRG1_ENST00000520407.1_Silent_p.V269V Q02297 NRG1_HUMAN neuregulin 1 54 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCAAACTAGTCCTTCGGTGTG 0.403000 29 101 0 0 0.002445 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542791 133542791 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:133542791C>T ENST00000409261.1 - 14 1966 c.1593G>A c.(1591-1593)aaG>aaA p.K531K NCKAP5_ENST00000317721.6_Silent_p.K531K|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 531 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CAGGCCTTTCCTTGGGATAAA 0.517000 51 54 0 0 0.003610 0 0 SNRNP200 23020 broad.mit.edu 37 2 96953256 96953256 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:96953256G>A ENST00000323853.5 - 26 3482 c.3405C>T c.(3403-3405)ctC>ctT p.L1135L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1135 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CTTCCTCAGGGAGTTTCCGGA 0.517000 30 49 0 0 0.007291 0 0 ZFP28 140612 broad.mit.edu 37 19 57051083 57051083 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57051083C>T ENST00000301318.3 + 2 369 c.298C>T c.(298-300)Cag>Tag p.Q100* ZFP28_ENST00000594386.1_3'UTR|ZFP28_ENST00000591844.1_Nonsense_Mutation_p.Q100* NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AGCCATGTCCCAGGTGAGTTG 0.458000 5 23 0 0 0.000602 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413888 61413888 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:61413888G>A ENST00000395348.3 - 5 1532 c.896C>T c.(895-897)gCt>gTt p.A299V SLC16A9_ENST00000395347.1_Missense_Mutation_p.A299V NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 299 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 TTTAAAAAGAGCCACAGTTTC 0.368000 30 33 0 0 0.007291 0 0 PRND 23627 broad.mit.edu 37 20 4705197 4705197 + Translation_Start_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:4705197G>A ENST00000305817.2 + 0 71 NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) protein homooligomerization anchored to membrane|plasma membrane breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 GTTCTGACGCGATGAGGAAGC 0.617000 34 68 0 0 0.003271 0 0 ULBP2 80328 broad.mit.edu 37 6 150266536 150266536 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:150266536G>A ENST00000367351.3 + 2 250 c.177G>A c.(175-177)aaG>aaA p.K59K NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 59 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) TGGATGAAAAGACTTTTCTTC 0.512000 37 43 0 0 0.002222 0 0 MYBPC3 4607 broad.mit.edu 37 11 47356689 47356689 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:47356689C>T ENST00000399249.2 - 26 2863 c.2809G>A c.(2809-2811)Ggg>Agg p.G937R MYBPC3_ENST00000256993.4_Missense_Mutation_p.G936R|MYBPC3_ENST00000545968.1_Missense_Mutation_p.G937R Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 936 Fibronectin type-III 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) AGCCGGGCCCCCGTGGGCAGG 0.662000 17 19 0 0 0.004990 0 0 TG 7038 broad.mit.edu 37 8 133899220 133899220 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:133899220C>T ENST00000220616.4 + 9 1643 c.1603C>T c.(1603-1605)Cct>Tct p.P535S TG_ENST00000377869.1_Missense_Mutation_p.P535S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 535 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CACAGGAACCCCTGAAGCTGC 0.448000 12 70 0 0 0.002450 0 0 ACBD4 79777 broad.mit.edu 37 17 43215092 43215092 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:43215092C>T ENST00000431281.1 + 9 975 c.506C>T c.(505-507)tCc>tTc p.S169F ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000586346.1_Missense_Mutation_p.S169F|ACBD4_ENST00000376955.4_Intron|ACBD4_ENST00000398322.3_Intron|ACBD4_ENST00000591859.1_Missense_Mutation_p.S169F|ACBD4_ENST00000321854.8_Intron|ACBD4_ENST00000591136.1_Intron NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 169 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 TCCACAGCTTCCCTCTGGGCA 0.562000 31 86 0 0 0.003755 0 0 CHD6 84181 broad.mit.edu 37 20 40054786 40054786 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:40054786G>A ENST00000373233.3 - 28 4253 c.4076C>T c.(4075-4077)tCc>tTc p.S1359F NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1359 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCCATCACTGGAACTCTCCTA 0.453000 47 125 0 0 0.003610 0 0 KRT33A 3883 broad.mit.edu 37 17 39504771 39504771 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:39504771C>T ENST00000007735.3 - 3 596 c.552G>A c.(550-552)aaG>aaA p.K184K NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 184 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) GCAGCTCCTCCTTCAGGGACT 0.597000 21 56 0 0 0.002299 0 0 IRGC 56269 broad.mit.edu 37 19 44223121 44223121 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:44223121C>T ENST00000244314.5 + 2 610 c.411C>T c.(409-411)ttC>ttT p.F137F NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 137 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) ATGACTTCTTCCTGCTGGTCT 0.642000 10 6 0 0 0.006214 0 0 LHX9 56956 broad.mit.edu 37 1 197889123 197889123 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:197889123G>A ENST00000367390.3 + 3 196 c.169G>A c.(169-171)Gag>Aag p.E57K LHX9_ENST00000337020.2_Missense_Mutation_p.E66K|LHX9_ENST00000561173.1_Missense_Mutation_p.E72K|LHX9_ENST00000367387.4_Missense_Mutation_p.E66K|LHX9_ENST00000367391.1_Missense_Mutation_p.E57K NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 66 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 GCTCAGCCCGGAGAAGCCCGC 0.662000 35 123 0 0 0.004289 0 0 MUC16 94025 broad.mit.edu 37 19 9066587 9066587 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9066587C>T ENST00000397910.4 - 3 21062 c.20859G>A c.(20857-20859)ctG>ctA p.L6953L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6955 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L6953L(2)|p.L2586L(1) 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 TGGTCTCTCTCAGTCCAGGAG 0.458000 48 64 0 0 0.003214 0 0 TRIOBP 11078 broad.mit.edu 37 22 38150944 38150944 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:38150944C>T ENST00000406386.3 + 13 5695 c.5440C>T c.(5440-5442)Ctg>Ttg p.L1814L TRIOBP_ENST00000407319.2_Silent_p.L101L|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Silent_p.L101L NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1814 PH. actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TTGGTTTGTGCTGACAGATTC 0.547000 11 98 0 0 0.001368 0 0 VIPR2 7434 broad.mit.edu 37 7 158827272 158827272 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:158827272G>A ENST00000262178.2 - 9 1064 c.879_splice c.e9+1 p.I293_splice VIPR2_ENST00000402066.1_Splice_Site_p.I434_splice|VIPR2_ENST00000377633.3_Splice_Site_p.I277_splice NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 293 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) GACTACTTACGATGATGGAAA 0.458000 27 35 0 0 0.001786 0 0 PLIN4 729359 broad.mit.edu 37 19 4510756 4510756 + Silent SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:4510756G>T ENST00000301286.3 - 3 3173 c.3174C>A c.(3172-3174)acC>acA p.T1058T NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1058 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CATTGTCTGTGGTCCTGGAAC 0.652000 14 15 0.000422831 0.000715323 0.004007 1 0 CNGB3 54714 broad.mit.edu 37 8 87588331 87588331 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:87588331C>T ENST00000320005.5 - 18 2178 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 711 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 tttccttcttcctctcctcct 0.284000 10 32 0 0 0.006214 0 0 PDZD2 23037 broad.mit.edu 37 5 31983414 31983414 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:31983414G>A ENST00000438447.1 + 3 1018 c.630G>A c.(628-630)gcG>gcA p.A210A PDZD2_ENST00000282493.3_Silent_p.A210A O15018 PDZD2_HUMAN PDZ domain containing 2 210 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACCGAACTGCGAAAAAGGGGA 0.537000 20 63 0 0 0.002299 0 0 GPR148 344561 broad.mit.edu 37 2 131487718 131487718 + Missense_Mutation SNP C C T rs147782890 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:131487718C>T ENST00000309926.4 + 1 1076 c.994C>T c.(994-996)Cgg>Tgg p.R332W NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 332 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) GGGCATGGTCCGGGGCCACCT 0.542000 7 14 0 0 0.001984 0 0 KCTD5 54442 broad.mit.edu 37 16 2749829 2749829 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:2749829T>G ENST00000301738.4 + 4 535 c.461T>G c.(460-462)gTg>gGg p.V154G KCTD5_ENST00000564195.1_Missense_Mutation_p.C123W NM_018992.3 NP_061865.1 Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 154 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 CAGGTGCCTGTGAAGCATGTG 0.647000 26 26 0 0 0.001786 0 0 RRP12 23223 broad.mit.edu 37 10 99141234 99141234 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:99141234G>A ENST00000370992.4 - 12 1438 c.1327C>T c.(1327-1329)Ctg>Ttg p.L443L RRP12_ENST00000414986.1_Silent_p.L382L|RRP12_ENST00000536831.1_Silent_p.L161L|RRP12_ENST00000315563.6_Silent_p.L343L NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 443 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CATTCCTTCAGGATCTCCTGC 0.597000 9 6 0 0 0.000978 0 0 TECTA 7007 broad.mit.edu 37 11 120998869 120998869 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:120998869C>T ENST00000392793.1 + 9 2454 c.2183C>T c.(2182-2184)tCc>tTc p.S728F TECTA_ENST00000264037.2_Missense_Mutation_p.S728F O75443 TECTA_HUMAN tectorin alpha 728 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GACGGCGCCTCCTACGCCTTC 0.617000 32 30 0 0 0.004289 0 0 KRT6B 3854 broad.mit.edu 37 12 52841607 52841607 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52841607A>C ENST00000252252.3 - 7 1426 c.1379T>G c.(1378-1380)gTg>gGg p.V460G NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 460 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GGCGATCTCCACATCCAGGGC 0.612000 29 84 0 0 0.003271 0 0 SCRIB 23513 broad.mit.edu 37 8 144893232 144893232 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:144893232G>A ENST00000356994.2 - 11 1123 c.1117C>T c.(1117-1119)Ctg>Ttg p.L373L SCRIB_ENST00000320476.3_Silent_p.L373L|SCRIB_ENST00000377533.3_Silent_p.L292L NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 373 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCGAACGGCAGACTCTGCAGG 0.692000 6 24 0 0 0.001984 0 0 THSD4 79875 broad.mit.edu 37 15 72039234 72039234 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:72039234C>T ENST00000355327.3 + 13 2228 c.2094C>T c.(2092-2094)caC>caT p.H698H THSD4_ENST00000261862.6_Silent_p.H698H|THSD4_ENST00000357769.4_Silent_p.H338H|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 698 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCATGCAGCACCGCCAGGTTC 0.627000 16 15 0 0 0.001216 0 0 CD8B 926 broad.mit.edu 37 2 87042831 87042831 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:87042831C>T ENST00000349455.3 - 5 590 c.541G>A c.(541-543)Gaa>Aaa p.E181K CD8B_ENST00000393759.2_3'UTR|CD8B_ENST00000331469.2_Missense_Mutation_p.E211K|CD8B_ENST00000393761.2_Silent_p.G168G NM_172102.3 NP_742100.1 P10966 CD8B_HUMAN CD8b molecule 0 immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 GATATACCTTCCCCTTGAGGC 0.408000 71 144 0 0 0.003610 0 0 IGF1R 3480 broad.mit.edu 37 15 99500576 99500576 + Missense_Mutation SNP C C T rs141802822 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:99500576C>T ENST00000268035.6 + 21 4620 c.4009C>T c.(4009-4011)Cgc>Tgc p.R1337C RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.R1336C NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1337 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GCTGGTCCTCCGCGCCAGCTT 0.687000 11 15 0 0 0.000978 0 0 NYAP2 57624 broad.mit.edu 37 2 226446676 226446676 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:226446676C>T ENST00000272907.6 + 4 956 c.543C>T c.(541-543)ccC>ccT p.P181P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 181 AACCAAGACCCCACAGCGATG 0.398000 42 61 0 0 0.003610 0 0 CRYBA4 1413 broad.mit.edu 37 22 27026391 27026391 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:27026391G>A ENST00000354760.3 + 6 566 c.531G>A c.(529-531)cgG>cgA p.R177R CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 177 Beta/gamma crystallin 'Greek key' 4. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 AACATTTCCGGGAGTGGGGCT 0.572000 11 21 0 0 0.000978 0 0 IFT20 90410 broad.mit.edu 37 17 26659002 26659002 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:26659002C>T ENST00000585089.1 - 3 358 c.88G>A c.(88-90)Gac>Aac p.D30N IFT20_ENST00000395418.3_Missense_Mutation_p.D4N|IFT20_ENST00000578122.1_Missense_Mutation_p.D30N|IFT20_ENST00000579419.1_Missense_Mutation_p.D4N|IFT20_ENST00000578985.1_Missense_Mutation_p.D30N|IFT20_ENST00000357896.3_Missense_Mutation_p.D4N|IFT20_ENST00000585313.1_Missense_Mutation_p.D4N NM_001267774.1 NP_001254703.1 Q8IY31 IFT20_HUMAN intraflagellar transport 20 homolog (Chlamydomonas) 4 cell projection organization centriole|cilium|Golgi apparatus|microtubule basal body protein binding lung(2) 2 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CCCAGGATGTCCTTGGCCATG 0.552000 44 27 0 0 0.003610 0 0 SMG8 55181 broad.mit.edu 37 17 57290426 57290426 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:57290426C>T ENST00000543872.2 + 4 2506 c.2242C>T c.(2242-2244)Cca>Tca p.P748S CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.P748S|SMG8_ENST00000580498.1_3'UTR Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 748 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TGAGTATCTCCCAGGCATGCT 0.443000 70 29 0 0 0.003610 0 0 USP9X 8239 broad.mit.edu 37 X 41075159 41075159 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:41075159C>T ENST00000324545.7 + 35 5972 c.5339C>T c.(5338-5340)aCc>aTc p.T1780I USP9X_ENST00000378308.2_Missense_Mutation_p.T1780I NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1780 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TAGGTTGATACCGTAAAGCGC 0.323000 12 1 0 0 0.003163 0 0 PTGES2 80142 broad.mit.edu 37 9 130883435 130883435 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:130883435G>A ENST00000338961.6 - 7 1867 c.1123C>T c.(1123-1125)Cca>Tca p.P375S PTGES2_ENST00000277462.5_Missense_Mutation_p.P184S NM_001256335.1|NM_025072.6 NP_001243264.1|NP_079348.1 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 375 GST C-terminal. cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 CAGTGCGCTGGGGAGGCCTCG 0.672000 5 5 0 0 0.003080 0 0 MISP 126353 broad.mit.edu 37 19 757283 757283 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:757283C>T ENST00000215582.6 + 2 440 c.337C>T c.(337-339)Cca>Tca p.P113S NM_173481.2 NP_775752.1 mitotic spindle positioning GGCACTCCGCCCAGAGGACGG 0.672000 13 15 0 0 0.001855 0 0 TRPC4 7223 broad.mit.edu 37 13 38320211 38320211 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:38320211C>T ENST00000379705.3 - 3 1617 c.760G>A c.(760-762)Gac>Aac p.D254N TRPC4_ENST00000355779.2_Missense_Mutation_p.D254N|TRPC4_ENST00000426868.2_Missense_Mutation_p.D254N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D254N|TRPC4_ENST00000379673.2_Missense_Mutation_p.D254N|TRPC4_ENST00000379681.3_Missense_Mutation_p.D254N|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.D254N|TRPC4_ENST00000338947.5_Intron Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 254 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCCAGTAGGTCCTTAGCAAAT 0.413000 37 56 0 0 0.005524 0 0 PCDH17 27253 broad.mit.edu 37 13 58207511 58207511 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:58207511A>G ENST00000377918.3 + 1 857 c.831A>G c.(829-831)gaA>gaG p.E277E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 277 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCAATGGTGAAGTGCTCTACT 0.592000 20 31 0 0 0.007413 0 0 ABCC8 6833 broad.mit.edu 37 11 17418475 17418475 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:17418475G>A ENST00000302539.4 - 33 4235 c.4110C>T c.(4108-4110)gcC>gcT p.A1370A ABCC8_ENST00000389817.3_Silent_p.A1369A NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1369 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCTGTCCAGGGGCGATGAGGG 0.617000 95 112 0 0 0.003610 0 0 WSCD2 9671 broad.mit.edu 37 12 108634201 108634201 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:108634201G>A ENST00000332082.4 + 9 2043 c.1225G>A c.(1225-1227)Gag>Aag p.E409K WSCD2_ENST00000261400.3_Missense_Mutation_p.E409K|WSCD2_ENST00000549903.1_Missense_Mutation_p.E409K|WSCD2_ENST00000547525.1_Missense_Mutation_p.E409K Q2TBF2 WSCD2_HUMAN WSC domain containing 2 409 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GAAAGAGATCGAGGCCTTCGA 0.607000 43 95 0 0 0.003214 0 0 ERVW-1 30816 broad.mit.edu 37 7 92098843 92098843 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:92098843C>T ENST00000493463.2 - 1 1776 c.853G>A c.(853-855)Gaa>Aaa p.E285K AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.E285K NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 285 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 cacatagattctgaagagcca 0.433000 17 26 0 0 0.006122 0 0 GPX5 2880 broad.mit.edu 37 6 28501753 28501753 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:28501753C>T ENST00000412168.2 + 5 564 c.475C>T c.(475-477)Ccc>Tcc p.P159S GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 159 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) CTGTCCTCATCCCTCTGAGAT 0.463000 54 280 0 0 0.003610 0 0 DRC1 92749 broad.mit.edu 37 2 26672939 26672939 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:26672939G>A ENST00000288710.2 + 12 1659 c.1585G>A c.(1585-1587)Gat>Aat p.D529N NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) GCTGAGGCTGGATGCCATCTT 0.607000 10 4 0 0 0.006214 0 0 C1R 715 broad.mit.edu 37 12 7242783 7242783 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:7242783T>C ENST00000542285.1 - 3 439 c.290A>G c.(289-291)aAc>aGc p.N97S P00736 C1R_HUMAN complement component 1, r subcomponent 98 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCCCGGGGGGTTGCCCAGTGG 0.517000 3 6 0 0 0.000248 0 0 SLC22A25 387601 broad.mit.edu 37 11 62951205 62951205 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:62951205C>T ENST00000403374.2 - 6 720 c.417G>A c.(415-417)agG>agA p.R139R SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.R305R|SLC22A10_ENST00000525620.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 305 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 TCATTCCATTCCTGTGTGCAG 0.463000 72 83 0 0 0.003610 0 0 CAMKK1 84254 broad.mit.edu 37 17 3772873 3772873 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:3772873G>C ENST00000381771.2 - 15 1510 c.1363C>G c.(1363-1365)Ctt>Gtt p.L455V CAMKK1_ENST00000381769.2_Missense_Mutation_p.L444V|CAMKK1_ENST00000158166.5_Missense_Mutation_p.L455V|CAMKK1_ENST00000348335.2_Missense_Mutation_p.L417V Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 417 Calmodulin-binding (By similarity). synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) TCCGAAGGAAGGGGCTCCTCC 0.622000 18 24 0 0 0.007413 0 0 UNC5C 8633 broad.mit.edu 37 4 96106277 96106277 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:96106277C>T ENST00000453304.1 - 13 2555 c.2207G>A c.(2206-2208)gGc>gAc p.G736D NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 736 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GTGGGTGCTGCCTTTAAAATG 0.468000 26 45 0 0 0.005443 0 0 SCN5A 6331 broad.mit.edu 37 3 38622668 38622668 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:38622668G>A ENST00000413689.1 - 17 3175 c.2982C>T c.(2980-2982)gcC>gcT p.A994A SCN5A_ENST00000425664.1_Silent_p.A994A|SCN5A_ENST00000443581.1_Silent_p.A994A|SCN5A_ENST00000423572.2_Silent_p.A994A|SCN5A_ENST00000449557.2_Silent_p.A994A|SCN5A_ENST00000414099.2_Silent_p.A994A|SCN5A_ENST00000450102.2_Silent_p.A994A|SCN5A_ENST00000451551.2_Silent_p.A994A|SCN5A_ENST00000455624.2_Silent_p.A994A|SCN5A_ENST00000333535.4_Silent_p.A994A NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 994 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGGCGGCAAGGGCTGCGGGCT 0.687000 4 16 0 0 0.000248 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535362 27535362 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:27535362C>T ENST00000574842.1 + 0 255 GTTAGTATTTCGGTCACAAAT 0.388000 10 11 0 0 0.006214 0 0 GPR179 440435 broad.mit.edu 37 17 36486596 36486596 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:36486596C>T ENST00000342292.4 - 11 2876 c.2856G>A c.(2854-2856)agG>agA p.R952R NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 952 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GAGATAGCATCCTTGGCTCTC 0.627000 9 3 0 0 0.004482 0 0 OR8H3 390152 broad.mit.edu 37 11 55890068 55890068 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:55890068T>A ENST00000313472.3 + 1 220 c.220T>A c.(220-222)Tac>Aac p.Y74N NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGACCTCAGTTACTCAACTGT 0.448000 89 463 0 0 0.003610 0 0 MTHFD1 4522 broad.mit.edu 37 14 64896942 64896942 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:64896942G>A ENST00000555709.1 + 13 1692 c.1305G>A c.(1303-1305)atG>atA p.M435I CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Missense_Mutation_p.M415I|MTHFD1_ENST00000216605.7_Missense_Mutation_p.M491I|MTHFD1_ENST00000545908.1_Missense_Mutation_p.M491I NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 435 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCATTCCTATGGAAGAGGTAA 0.507000 OREG0022729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 65 0 0 0.003610 0 0 SLC11A2 4891 broad.mit.edu 37 12 51384701 51384701 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:51384701G>A ENST00000394904.3 - 15 1588 c.1539C>T c.(1537-1539)gtC>gtT p.V513V SLC11A2_ENST00000546743.1_Silent_p.V405V|SLC11A2_ENST00000545993.2_Silent_p.V480V|SLC11A2_ENST00000541174.2_Silent_p.V484V|SLC11A2_ENST00000547688.1_Silent_p.V513V|SLC11A2_ENST00000547198.1_Silent_p.V484V|SLC11A2_ENST00000262052.5_Silent_p.V484V|SLC11A2_ENST00000262051.7_Silent_p.V484V NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 484 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 AGATGATAAGGACCAAGATTC 0.468000 12 25 0 0 0.001855 0 0 CDCP1 64866 broad.mit.edu 37 3 45136996 45136996 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:45136996G>A ENST00000296129.1 - 5 1223 c.1089C>T c.(1087-1089)ccC>ccT p.P363P NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 363 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TCTGTTTGACGGGCCGTGGCT 0.498000 22 47 0 0 0.001882 0 0 ANKFN1 162282 broad.mit.edu 37 17 54450167 54450167 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:54450167C>T ENST00000566473.2 + 6 771 c.771C>T c.(769-771)ctC>ctT p.L257L ANKFN1_ENST00000318698.2_Silent_p.L257L Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 257 p.L257L(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GGTATCGGCTCTACAGACGCA 0.483000 130 90 0 0 0.003610 0 0 MIA3 375056 broad.mit.edu 37 1 222798135 222798135 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:222798135C>T ENST00000344922.5 + 3 318 c.293C>T c.(292-294)cCa>cTa p.P98L MIA3_ENST00000344507.1_Missense_Mutation_p.P98L|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.P98L NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 98 SH3. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GGATATTTTCCAAAAGATTTA 0.353000 359 207 0 0 0.003610 0 0 DNAH17 8632 broad.mit.edu 37 17 76503785 76503785 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:76503785C>T ENST00000389840.5 - 28 4451 c.4327G>A c.(4327-4329)Gag>Aag p.E1443K DNAH17_ENST00000585328.1_Missense_Mutation_p.E1444K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCAGCGTCTCCACCAGCACC 0.592000 3 9 0 0 0.000248 0 0 ARID1A 8289 broad.mit.edu 37 1 27088718 27088718 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:27088718C>T ENST00000324856.7 + 7 2698 c.2327C>T c.(2326-2328)cCt>cTt p.P776L ARID1A_ENST00000457599.2_Missense_Mutation_p.P776L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P393L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 776 P -> L (in Ref. 1; AAG33967, 5; AAG17549 and 7; BAA23269). androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCGCGTCAGCCTTCCGGAGGA 0.572000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 28 66 0 0 0.005443 0 0 MIR596 693181 broad.mit.edu 37 8 1765429 1765429 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:1765429C>T ENST00000385091.1 + 0 33 NR_030326.1 CCCGGCTCCTCGGGAACCTGC 0.622000 9 23 0 0 0.006214 0 0 HARBI1 283254 broad.mit.edu 37 11 46625266 46625266 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:46625266G>A ENST00000326737.3 - 3 1111 c.864C>T c.(862-864)tcC>tcT p.S288S NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 288 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 TGATATGGCTGGATTTCTCTG 0.542000 13 13 0 0 0.001368 0 0 PRDM11 56981 broad.mit.edu 37 11 45226312 45226312 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:45226312C>T ENST00000263765.4 + 6 888 c.639C>T c.(637-639)acC>acT p.T213T PRDM11_ENST00000530656.1_Silent_p.T213T|PRDM11_ENST00000424263.2_Silent_p.T179T|PRDM11_ENST00000528980.1_3'UTR Q9NQV5 PRD11_HUMAN PR domain containing 11 213 SET. endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 CAGACGAGACCAAAGCCAACT 0.542000 25 37 0 0 0.001786 0 0 SI 6476 broad.mit.edu 37 3 164785275 164785275 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:164785275G>A ENST00000264382.3 - 6 550 c.488C>T c.(487-489)aCt>aTt p.T163I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 163 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTTGGATCAGTAATCTGGAA 0.313000 HNSCC(35;0.089) 24 81 0 0 0.005443 0 0 AMZ1 155185 broad.mit.edu 37 7 2752035 2752035 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2752035G>A ENST00000312371.4 + 7 1388 c.1020G>A c.(1018-1020)tgG>tgA p.W340* AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.G284R NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 340 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CGTCAGTGTGGGAGGACACCC 0.667000 4 34 0 0 0.000248 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47202494 47202494 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:47202494G>A ENST00000296861.2 - 5 2043 c.1650C>T c.(1648-1650)ttC>ttT p.F550F NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 550 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) ACTCATCCACGAAGAAGCCCT 0.597000 4 22 0 0 0.000602 0 0 MYH8 4626 broad.mit.edu 37 17 10300303 10300303 + Splice_Site SNP C C T rs143515663 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:10300303C>T ENST00000403437.2 - 31 4273 c.4178_splice c.e31-1 p.K1393_splice CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1393 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCAACTTTTTCCTGAAAAGTT 0.478000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 18 0 0 0.003080 0 0 NUP210L 91181 broad.mit.edu 37 1 154072525 154072525 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:154072525A>C ENST00000368559.3 - 14 1985 c.1914T>G c.(1912-1914)tgT>tgG p.C638W NUP210L_ENST00000271854.3_Missense_Mutation_p.C638W NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 638 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) AGTACTTGTCACATTCATTCA 0.403000 56 184 0 0 0.003610 0 0 TRIM31 11074 broad.mit.edu 37 6 30080314 30080314 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:30080314C>T ENST00000376734.3 - 2 394 c.269G>A c.(268-270)aGg>aAg p.R90K TRIM31_ENST00000540829.1_Missense_Mutation_p.R90K|TRIM31-AS1_ENST00000440874.1_RNA NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 90 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 AGCCTCTTTCCTTTTGGACTG 0.493000 28 136 0 0 0.007291 0 0 HAS3 3038 broad.mit.edu 37 16 69143862 69143862 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:69143862G>A ENST00000306560.1 + 2 720 c.564G>A c.(562-564)caG>caA p.Q188Q HAS3_ENST00000569188.1_Silent_p.Q188Q|HAS3_ENST00000219322.3_Silent_p.Q188Q NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 188 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) GCATCATGCAGAAGTGGGGAG 0.642000 13 25 0 0 0.001855 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043683 77043683 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:77043683G>A ENST00000339142.2 + 5 914 c.359G>A c.(358-360)gGg>gAg p.G120E C1QTNF1_ENST00000580474.1_Missense_Mutation_p.G120E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.G38E|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.G120E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.G120E|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.G120E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.G38E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.G120E|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.G130E|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.G120E NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 120 Collagen-like. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GGCTCAGCAGGGGCCAGGGGC 0.627000 56 37 0 0 0.003610 0 0 KIAA1109 84162 broad.mit.edu 37 4 123265596 123265596 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:123265596C>T ENST00000264501.4 + 74 12986 c.12613C>T c.(12613-12615)Ctt>Ttt p.L4205F KIAA1109_ENST00000388738.3_Missense_Mutation_p.L4205F Q2LD37 K1109_HUMAN KIAA1109 4205 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CAGTATAAACCTTGAGTTTGT 0.413000 37 35 0 0 0.004878 0 0 ZNF331 55422 broad.mit.edu 37 19 54080919 54080919 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54080919C>T ENST00000253144.9 + 7 2438 c.1105C>T c.(1105-1107)Cac>Tac p.H369Y ZNF331_ENST00000449416.1_Missense_Mutation_p.H369Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.H369Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.H369Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.H369Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H369Y|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511154.1_Missense_Mutation_p.H369Y NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TTGTGGCTATCACCTCACTCA 0.507000 T ? follicular thyroid adenoma 7 31 0 0 0.003080 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172563854 172563854 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:172563854G>A ENST00000534253.2 + 5 470 c.302G>A c.(301-303)aGc>aAc p.S101N DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S113N|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S113N|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S101N|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S95N|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S95N|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S95N|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S101N|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S95N|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S95N|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S101N Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 101 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) GAAGCTGGAAGCCAAGACTCT 0.438000 21 37 0 0 0.003330 0 0 OTUD7A 161725 broad.mit.edu 37 15 31819489 31819489 + Silent SNP C C T rs142018701 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:31819489C>T ENST00000382902.1 - 5 767 c.675G>A c.(673-675)cgG>cgA p.R225R OTUD7A_ENST00000307050.4_Silent_p.R225R Q8TE49 OTU7A_HUMAN OTU domain containing 7A 225 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ACACCAGGTCCCGGTCGTGAA 0.557000 15 35 0 0 0.004007 0 0 POTEH 23784 broad.mit.edu 37 22 16287309 16287309 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:16287309C>T ENST00000343518.6 - 1 628 c.577G>A c.(577-579)Gat>Aat p.D193N NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 193 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 ACGATGAGATCCTTTCTGGGG 0.552000 6 100 0 0 0.004007 0 0 PDE4D 5144 broad.mit.edu 37 5 58511729 58511729 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:58511729G>A ENST00000340635.6 - 2 696 c.521C>T c.(520-522)tCc>tTc p.S174F PDE4D_ENST00000502575.1_Missense_Mutation_p.S110F|PDE4D_ENST00000360047.5_Missense_Mutation_p.S38F|PDE4D_ENST00000503258.1_Missense_Mutation_p.S44F|PDE4D_ENST00000405755.2_Missense_Mutation_p.S52F|PDE4D_ENST00000546160.1_Missense_Mutation_p.S113F|PDE4D_ENST00000502484.2_Missense_Mutation_p.S113F|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Missense_Mutation_p.S110F NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 174 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AATTAGCCCGGATCCTGGGCT 0.498000 8 30 0 0 0.003080 0 0 SNX9 51429 broad.mit.edu 37 6 158342637 158342637 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:158342637C>T ENST00000392185.3 + 10 1195 c.1024C>T c.(1024-1026)Cca>Tca p.P342S NM_016224.3 NP_057308.1 Q9Y5X1 SNX9_HUMAN sorting nexin 9 342 PX. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) GTGTCGCCATCCAGTAATCTC 0.443000 24 27 0 0 0.007291 0 0 OR11A1 26531 broad.mit.edu 37 6 29395053 29395053 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29395053G>A ENST00000377149.1 - 5 838 c.366C>T c.(364-366)gaC>gaT p.D122D OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.D122D|OR11A1_ENST00000377147.2_Silent_p.D122D Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 CCAGGTAGCGGTCATATGCCA 0.537000 18 140 0 0 0.004990 0 0 TRHDE 29953 broad.mit.edu 37 12 72956740 72956740 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:72956740A>T ENST00000261180.4 + 9 1923 c.1827A>T c.(1825-1827)gaA>gaT p.E609D TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 609 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CAACAGCAGAAAATAGAATAA 0.328000 28 106 0 0 0.005443 0 0 CCDC171 203238 broad.mit.edu 37 9 15744360 15744360 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:15744360C>T ENST00000380701.3 + 17 2467 c.2139C>T c.(2137-2139)ttC>ttT p.F713F CCDC171_ENST00000297641.3_Silent_p.F713F NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 713 ATTCGCACTTCAAAAAACTGT 0.393000 34 72 0 0 0.002445 0 0 HTR1F 3355 broad.mit.edu 37 3 88040541 88040541 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:88040541G>A ENST00000319595.4 + 1 696 c.642G>A c.(640-642)aaG>aaA p.K214K NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 214 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TATACCACAAGAGACAAGCAA 0.403000 16 55 0 0 0.004007 0 0 PRSS35 167681 broad.mit.edu 37 6 84234162 84234162 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:84234162C>T ENST00000536636.1 + 3 1347 c.1002C>T c.(1000-1002)ctC>ctT p.L334L PRSS35_ENST00000369700.3_Silent_p.L334L NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 334 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CCAATGATCTCCTTTACCAAT 0.473000 37 39 0 0 0.006999 0 0 PRKD2 25865 broad.mit.edu 37 19 47181848 47181848 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:47181848G>A ENST00000433867.1 - 17 2620 c.2143C>T c.(2143-2145)Ccg>Tcg p.P715S PRKD2_ENST00000595515.1_Missense_Mutation_p.P715S|PRKD2_ENST00000291281.4_Missense_Mutation_p.P715S|PRKD2_ENST00000601806.1_Missense_Mutation_p.P558S|PRKD2_ENST00000600194.1_Missense_Mutation_p.P558S|PRKD2_ENST00000593492.1_5'UTR NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 715 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) AGGTAGGCCGGCGTGCCCACC 0.627000 24 29 0 0 0.002780 0 0 RIN2 54453 broad.mit.edu 37 20 19956093 19956093 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:19956093C>T ENST00000255006.6 + 8 1720 c.1571C>T c.(1570-1572)cCc>cTc p.P524L RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 475 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 ACCATGGCGCCCCCCATCAAG 0.587000 12 56 0 0 0.001368 0 0 COL6A2 1292 broad.mit.edu 37 21 47551942 47551942 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:47551942G>A ENST00000300527.4 + 28 2640 c.2536G>A c.(2536-2538)Gag>Aag p.E846K NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 846 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GCGGCTGGGTGAGCAGAACTT 0.706000 6 5 0 0 0.001168 0 0 VPS8 23355 broad.mit.edu 37 3 184632796 184632796 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:184632796C>T ENST00000287546.4 + 26 2388 c.2217C>T c.(2215-2217)ccC>ccT p.P739P VPS8_ENST00000437079.3_Silent_p.P739P|VPS8_ENST00000446204.2_Silent_p.P647P|VPS8_ENST00000436792.2_Silent_p.P737P NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 739 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GTGCCTATCCCCTTGGTGACA 0.428000 19 82 0 0 0.001882 0 0 IL7R 3575 broad.mit.edu 37 5 35876163 35876163 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:35876163G>A ENST00000303115.3 + 8 1084 c.955G>A c.(955-957)Gaa>Aaa p.E319K IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 319 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AGCTAGAGATGAAGTGGAAGG 0.453000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 13 42 0 0 0.001368 0 0 PFKFB2 5208 broad.mit.edu 37 1 207252345 207252345 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:207252345C>T ENST00000367079.2 + 15 1470 c.1397C>T c.(1396-1398)tCc>tTc p.S466F PFKFB2_ENST00000411990.2_Missense_Mutation_p.S368F|PFKFB2_ENST00000541914.1_Missense_Mutation_p.S259F|PFKFB2_ENST00000473310.1_3'UTR NM_001018053.1 NP_001018063.1 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 0 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) TCCGCAGCGTCCCTCATGTTG 0.552000 60 200 0 0 0.003610 0 0 PGC 5225 broad.mit.edu 37 6 41710162 41710162 + Silent SNP G G A rs146180846 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41710162G>A ENST00000373025.3 - 5 575 c.513C>T c.(511-513)ttC>ttT p.F171F PGC_ENST00000425343.2_Silent_p.F171F NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 171 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GCGCATAGACGAAGTTGGTAC 0.592000 20 83 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179477031 179477031 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179477031C>T ENST00000589042.1 - 266 50445 c.50221G>A c.(50221-50223)Gac>Aac p.D16741N TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7801N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7868N|TTN_ENST00000591111.1_Missense_Mutation_p.D15100N|TTN_ENST00000460472.2_Missense_Mutation_p.D7676N|TTN_ENST00000342992.6_Missense_Mutation_p.D14173N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15100 Ig-like 101. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCACAGAGTCCTCAATTTCG 0.448000 11 13 0 0 0.000673 0 0 ZNF534 147658 broad.mit.edu 37 19 52941587 52941587 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:52941587C>T ENST00000332323.6 + 4 974 c.913C>T c.(913-915)Cat>Tat p.H305Y ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H292Y NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 TAGGAAAATTCATACTGGAGA 0.393000 11 14 0 0 0.000978 0 0 ADCY6 112 broad.mit.edu 37 12 49177038 49177038 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:49177038G>A ENST00000307885.4 - 1 874 c.180C>T c.(178-180)ccC>ccT p.P60P ADCY6_ENST00000550422.1_Silent_p.P60P|ADCY6_ENST00000357869.3_Silent_p.P60P NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 60 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 integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GGCACCGAGGGGGGCCCGCAG 0.721000 7 17 0 0 0.001984 0 0 HSPG2 3339 broad.mit.edu 37 1 22173091 22173091 + Splice_Site SNP G G A rs141870522 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:22173091G>A ENST00000374695.3 - 63 8245 c.8164_splice c.e63-1 p.A2722_splice HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2722 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGCTGCCAGGGGCTGGGGGAA 0.597000 18 42 0 0 0.002299 0 0 DOCK3 1795 broad.mit.edu 37 3 51349912 51349912 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:51349912G>A ENST00000266037.9 + 30 3122 c.3099G>A c.(3097-3099)tgG>tgA p.W1033* NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1033 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCTAGGTGTGGAATTCTTACT 0.378000 20 45 0 0 0.001523 0 0 MORC1 27136 broad.mit.edu 37 3 108682428 108682428 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:108682428C>T ENST00000232603.5 - 27 2714 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K MORC1_ENST00000483760.1_Missense_Mutation_p.E857K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 878 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATTTTTTTTTCATATTGGACC 0.279000 17 34 0 0 0.001216 0 0 OR5H2 79310 broad.mit.edu 37 3 98002321 98002321 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:98002321C>T ENST00000355273.2 + 1 590 c.590C>T c.(589-591)cCt>cTt p.P197L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P197H(1) breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TGTACTGACCCTTCTATTAAT 0.308000 25 61 0 0 0.003330 0 0 KCNH4 23415 broad.mit.edu 37 17 40330388 40330388 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:40330388C>T ENST00000264661.3 - 3 750 c.418G>A c.(418-420)Gga>Aga p.G140R KCNH4_ENST00000607371.1_Missense_Mutation_p.G140R NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 140 PAC. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGGCCAAGTCCTGGGCTTCCA 0.562000 24 10 0 0 0.004656 0 0 CYP27B1 1594 broad.mit.edu 37 12 58158686 58158686 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:58158686C>T ENST00000228606.4 - 5 1023 c.814G>A c.(814-816)Gag>Aag p.E272K NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 272 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GCCTCTGCCTCTCGCCGCTCC 0.617000 23 64 0 0 0.003330 0 0 DES 1674 broad.mit.edu 37 2 220285356 220285356 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:220285356C>T ENST00000373960.3 + 4 961 c.875C>T c.(874-876)gCt>gTt p.A292V NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 292 Linker 2.|Rod. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) ATTTCTGAAGCTGAGGAGTGG 0.592000 12 23 0 0 0.001855 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43858432 43858432 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:43858432G>A ENST00000389420.3 - 10 1470 c.1471C>T c.(1471-1473)Ctt>Ttt p.L491F ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L491F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 491 Disintegrin. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCAAACGCAAGCTCACACTGC 0.373000 36 89 0 0 0.006230 0 0 ITGAX 3687 broad.mit.edu 37 16 31373954 31373954 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:31373954C>T ENST00000268296.4 + 12 1360 c.1239C>T c.(1237-1239)ctC>ctT p.L413L ITGAX_ENST00000562522.1_Silent_p.L413L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 413 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGCTGGCCCTCTGGAAAGGGG 0.672000 3 7 0 0 0.004672 0 0 SPTBN1 6711 broad.mit.edu 37 2 54872557 54872557 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:54872557C>T ENST00000333896.5 + 20 4807 c.4422C>T c.(4420-4422)atC>atT p.I1474I SPTBN1_ENST00000356805.4_Silent_p.I1487I NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1487 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CCAAAGAGATCCATCAGTTCA 0.552000 16 44 0 0 0.003163 0 0 SEC24C 9632 broad.mit.edu 37 10 75529739 75529739 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:75529739C>T ENST00000339365.2 + 21 2990 c.2828C>T c.(2827-2829)aCc>aTc p.T943I SEC24C_ENST00000411652.2_Missense_Mutation_p.T824I|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.T943I|SEC24C_ENST00000535742.1_Missense_Mutation_p.T191I|SEC24C_ENST00000540668.1_Missense_Mutation_p.T191I NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 943 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GTGACTGAGACCAATGTCTTC 0.512000 51 81 0 0 0.003610 0 0 CFTR 1080 broad.mit.edu 37 7 117182160 117182160 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:117182160G>A ENST00000003084.6 + 9 1339 c.1207G>A c.(1207-1209)Gag>Aag p.E403K CFTR_ENST00000454343.1_Missense_Mutation_p.E403K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 403 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTTCTGGGAGGAGGTCAGAAT 0.313000 Cystic Fibrosis 12 19 0 0 0.001855 0 0 FPR1 2357 broad.mit.edu 37 19 52249517 52249517 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:52249517G>A ENST00000595042.1 - 3 872 c.731C>T c.(730-732)tCc>tTc p.S244F FPR1_ENST00000304748.4_Missense_Mutation_p.S244F NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 244 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) TGCGACAAAGGAGAGGACCCG 0.507000 19 19 0 0 0.001216 0 0 CACNA1A 773 broad.mit.edu 37 19 13446673 13446673 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:13446673G>A ENST00000360228.5 - 7 1028 c.1029C>T c.(1027-1029)ctC>ctT p.L343L CACNA1A_ENST00000573710.2_Silent_p.L343L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 343 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGATGATGATGAGGGGGATGA 0.522000 4 6 0 0 0.001168 0 0 CNTN3 5067 broad.mit.edu 37 3 74313648 74313648 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:74313648C>T ENST00000263665.6 - 22 3018 c.2991G>A c.(2989-2991)atG>atA p.M997I CNTN3_ENST00000477856.1_5'UTR NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 997 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CTCTTGCATCCATACCTGTCA 0.398000 14 37 0 0 0.002450 0 0 CCT5 22948 broad.mit.edu 37 5 10263337 10263337 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:10263337C>T ENST00000280326.4 + 10 1829 c.1409C>T c.(1408-1410)cCc>cTc p.P470L CCT5_ENST00000515390.1_Missense_Mutation_p.P415L|CCT5_ENST00000506600.1_Missense_Mutation_p.P377L|CCT5_ENST00000503026.1_Missense_Mutation_p.P449L|CCT5_ENST00000515676.1_Missense_Mutation_p.P432L NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 470 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GGCATGAATCCCATCCAGACT 0.547000 25 69 0 0 0.003330 0 0 CLEC11A 6320 broad.mit.edu 37 19 51226853 51226853 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:51226853G>A ENST00000250340.4 + 1 268 c.71G>A c.(70-72)gGa>gAa p.G24E CLEC11A_ENST00000599973.1_Missense_Mutation_p.G24E NM_002975.2 NP_002966.1 Q9Y240 CLC11_HUMAN C-type lectin domain family 11, member A 24 positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 7 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGGGCTCggggagcagagagg 0.642000 25 23 0 0 0.002780 0 0 DNAH10 196385 broad.mit.edu 37 12 124284801 124284801 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:124284801G>A ENST00000409039.3 + 14 1999 c.1974G>A c.(1972-1974)agG>agA p.R658R NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 658 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTTTAGAAAGGGGAGCTGTTT 0.478000 10 39 0 0 0.001855 0 0 ANKMY1 51281 broad.mit.edu 37 2 241494370 241494370 + Translation_Start_Site SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:241494370C>A ENST00000391987.1 - 0 348 ANKMY1_ENST00000405002.1_De_novo_Start_OutOfFrame|ANKMY1_ENST00000536462.1_Missense_Mutation_p.Q36H|ANKMY1_ENST00000406958.1_Missense_Mutation_p.Q83H|ANKMY1_ENST00000405523.3_Missense_Mutation_p.Q83H|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.Q83H|ANKMY1_ENST00000361678.4_Missense_Mutation_p.Q83H|ANKMY1_ENST00000401804.1_Missense_Mutation_p.Q83H|ANKMY1_ENST00000373320.4_De_novo_Start_OutOfFrame|ANKMY1_ENST00000403283.1_Missense_Mutation_p.Q162H|ANKMY1_ENST00000272972.3_De_novo_Start_OutOfFrame Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) CCTGCCACTCCTGCACACCCT 0.572000 47 57 2.01872e-29 3.46128e-29 0.003610 1 0 SPEN 23013 broad.mit.edu 37 1 16262683 16262683 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:16262683C>T ENST00000375759.3 + 11 10152 c.9948C>T c.(9946-9948)ccC>ccT p.P3316P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3316 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCTACCACCCCCCGGCCCAGC 0.632000 13 42 0 0 0.003163 0 0 DSC3 1825 broad.mit.edu 37 18 28609528 28609528 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:28609528G>T ENST00000434452.1 - 4 575 c.421C>A c.(421-423)Cct>Act p.P141T DSC3_ENST00000360428.4_Missense_Mutation_p.P141T NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 141 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ATAGAGCAAGGAATAGGTGCC 0.413000 31 47 2.49991e-28 4.28448e-28 0.003271 1 0 YTHDC2 64848 broad.mit.edu 37 5 112915296 112915296 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:112915296C>T ENST00000161863.4 + 24 3471 c.3258C>T c.(3256-3258)ccC>ccT p.P1086P NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1086 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ATGGCATTCCCAATGACAGTA 0.378000 45 222 0 0 0.003610 0 0 ODF3L2 284451 broad.mit.edu 37 19 463914 463914 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:463914C>T ENST00000315489.4 - 4 1035 c.800G>A c.(799-801)cGg>cAg p.R267Q ODF3L2_ENST00000382696.3_Missense_Mutation_p.R231Q NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 267 large_intestine(1)|lung(2) 3 GGTGCTGGCCCGTTTCGAGTG 0.701000 6 10 0 0 0.000673 0 0 PEX6 5190 broad.mit.edu 37 6 42934388 42934388 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:42934388C>T ENST00000304611.8 - 10 2038 c.1969G>A c.(1969-1971)Ggt>Agt p.G657S PEX6_ENST00000244546.4_Missense_Mutation_p.G657S NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 657 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) GTCAAGCCACCTGCCAAACTG 0.577000 31 170 0 0 0.001786 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651385 121651385 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:121651385C>T ENST00000393386.2 + 12 2696 c.2285C>T c.(2284-2286)tCc>tTc p.S762F PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 762 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTTCAACCTTCCTACAGTAGT 0.493000 55 57 0 0 0.003610 0 0 ACOT4 122970 broad.mit.edu 37 14 74062021 74062021 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:74062021C>T ENST00000326303.4 + 3 1183 c.929C>T c.(928-930)cCa>cTa p.P310L NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 310 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) AGCATGATTCCAATAGAGAAG 0.493000 17 29 0 0 0.004007 0 0 KCNMB1 3779 broad.mit.edu 37 5 169810805 169810805 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:169810805C>T ENST00000274629.4 - 3 626 c.184G>A c.(184-186)Gac>Aac p.D62N KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.D62N|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 62 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TCCTCCTGGTCCCTGATGTTG 0.582000 20 28 0 0 0.001216 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450849 85450849 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:85450849C>T ENST00000393217.2 + 8 2339 c.2278C>T c.(2278-2280)Caa>Taa p.Q760* NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 760 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CAAGCAAAATCAACAAAAGAA 0.393000 78 200 0 0 0.003610 0 0 CXorf67 340602 broad.mit.edu 37 X 51149989 51149989 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:51149989C>T ENST00000342995.2 + 1 223 c.121C>T c.(121-123)Cct>Tct p.P41S chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 GAATCAAGATCCTGCTGCTTC 0.662000 11 0 0 0 0.001368 0 0 NEGR1 257194 broad.mit.edu 37 1 72241872 72241872 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:72241872C>T ENST00000357731.4 - 3 757 c.518G>A c.(517-519)cGa>cAa p.R173Q NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 173 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GGAGATGTGTCGCCAAGAAAT 0.418000 16 11 0 0 0.004990 0 0 CCDC19 25790 broad.mit.edu 37 1 159860371 159860371 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159860371G>A ENST00000368099.4 - 3 235 c.171C>T c.(169-171)ctC>ctT p.L57L CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR NM_012337.2 NP_036469.2 Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 57 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GCTTATCTCGGAGCAGCACAA 0.542000 39 122 0 0 0.002522 0 0 EI24 9538 broad.mit.edu 37 11 125448110 125448110 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:125448110C>T ENST00000278903.6 + 6 640 c.398C>T c.(397-399)cCc>cTc p.P133L STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.P133L|EI24_ENST00000530985.1_3'UTR NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 133 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TGGGTGCTCCCCTTGTTTGTG 0.502000 46 59 0 0 0.003610 0 0 IL17RD 54756 broad.mit.edu 37 3 57139951 57139951 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:57139951G>A ENST00000296318.7 - 7 769 c.681C>T c.(679-681)ttC>ttT p.F227F IL17RD_ENST00000463523.1_Silent_p.F83F|IL17RD_ENST00000320057.5_Silent_p.F83F|IL17RD_ENST00000427856.2_Silent_p.F203F NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 227 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) AGAAGAAACGGAAGCCGAAGT 0.522000 12 30 0 0 0.002450 0 0 SPESP1 246777 broad.mit.edu 37 15 69223036 69223036 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:69223036C>T ENST00000310673.3 + 1 198 c.44C>T c.(43-45)tCg>tTg p.S15L SPESP1_ENST00000560188.1_Intron|NOX5_ENST00000260364.5_5'UTR|NOX5_ENST00000448182.3_5'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Silent_p.F3F NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 15 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 CTATGGCCTTCGTCTGTGCCG 0.642000 32 43 0 0 0.006230 0 0 AMER1 139285 broad.mit.edu 37 X 63410326 63410326 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:63410326G>A ENST00000330258.3 - 2 3113 c.2841C>T c.(2839-2841)tcC>tcT p.S947S AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CAGTATAGAGGGAAAGGGGAC 0.587000 6 1 0 0 0.001984 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45642855 45642855 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:45642855C>T ENST00000427229.2 + 0 14 AATATCACCTCCTAGGAAATA 0.438000 4 6 0 0 0.000248 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86522401 86522401 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:86522401A>C ENST00000450689.2 - 20 2886 c.2701T>G c.(2701-2703)Tgg>Ggg p.W901G KIAA1324L_ENST00000297222.6_Missense_Mutation_p.W661G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.W734G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.W830G NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 901 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GGTTCATTCCACACATACAAG 0.383000 28 57 0 0 0.007291 0 0 TNXB 7148 broad.mit.edu 37 6 32026088 32026088 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32026088G>A ENST00000375244.3 - 22 7773 c.7572C>T c.(7570-7572)ctC>ctT p.L2524L TNXB_ENST00000375247.2_Silent_p.L2524L P22105 TENX_HUMAN tenascin XB 2584 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTCCCCCAGGAGAGGCTCCT 0.632000 93 968 0 0 0.003610 0 0 BPI 671 broad.mit.edu 37 20 36932652 36932652 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:36932652G>A ENST00000262865.4 + 1 128 c.39G>A c.(37-39)ccG>ccA p.P13P CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 13 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.P13P(1) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) GCAACGCGCCGAGATGGGCGT 0.617000 22 116 0 0 0.003954 0 0 ATAD2B 54454 broad.mit.edu 37 2 23985211 23985211 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:23985211A>T ENST00000238789.5 - 24 3605 c.3262T>A c.(3262-3264)Tca>Aca p.S1088T ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1088 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGTTACTGATAAGCCTGCA 0.353000 12 35 0 0 0.000978 0 0 COL28A1 340267 broad.mit.edu 37 7 7480434 7480434 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:7480434G>A ENST00000399429.3 - 21 1849 c.1709C>T c.(1708-1710)cCc>cTc p.P570L NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 570 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TGGTCCTTCGGGCCCTGGAAG 0.373000 27 136 0 0 0.001786 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255683 85255683 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:85255683G>A ENST00000266682.5 - 12 2462 c.1921C>T c.(1921-1923)Cgc>Tgc p.R641C SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.R534C NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 641 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 AGGTTGAAGCGACGAACAATG 0.433000 32 107 0 0 0.001786 0 0 PRDX1 5052 broad.mit.edu 37 1 45980275 45980275 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:45980275G>A ENST00000262746.1 - 5 757 c.418C>T c.(418-420)Cgg>Tgg p.R140W PRDX1_ENST00000319248.8_Missense_Mutation_p.R140W|PRDX1_ENST00000372079.1_Missense_Mutation_p.R38W NM_002574.3|NM_181696.2 NP_002565.1|NP_859047.1 Q06830 PRDX1_HUMAN peroxiredoxin 1 140 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) GTGATCTGCCGAAGAATACCC 0.443000 43 102 0 0 0.003610 0 0 AOC1 26 broad.mit.edu 37 7 150554425 150554425 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:150554425G>A ENST00000493429.1 + 4 1451 c.867G>A c.(865-867)ggG>ggA p.G289G AOC1_ENST00000360937.4_Silent_p.G289G|AOC1_ENST00000467291.1_Silent_p.G289G|AOC1_ENST00000416793.2_Silent_p.G289G amine oxidase, copper containing 1 AGCCCCGCGGGGACTTCCCCA 0.701000 4 4 0 0 0.000248 0 0 MYH10 4628 broad.mit.edu 37 17 8451692 8451692 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:8451692A>C ENST00000360416.3 - 11 1236 c.1098T>G c.(1096-1098)ttT>ttG p.F366L MYH10_ENST00000396239.1_Missense_Mutation_p.F356L|MYH10_ENST00000379980.4_Missense_Mutation_p.F372L|MYH10_ENST00000269243.4_Missense_Mutation_p.F356L NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 356 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AAATATTTCCAAACTGTAGCA 0.313000 16 52 0 0 0.007413 0 0 KDR 3791 broad.mit.edu 37 4 55976879 55976879 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:55976879C>T ENST00000263923.4 - 8 1328 c.1033G>A c.(1033-1035)Ggg>Agg p.G345R NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 345 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACACGCTCCCCCACCGTGGCT 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 41 183 0 0 0.003610 0 0 ZNF793 390927 broad.mit.edu 37 19 38024235 38024235 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:38024235G>A ENST00000445217.1 + 3 203 c.168G>A c.(166-168)gtG>gtA p.V56V ZNF793_ENST00000587143.1_Silent_p.V56V|ZNF793_ENST00000542455.1_Silent_p.V56V|ZNF793_ENST00000589319.1_Silent_p.V56V|ZNF793_ENST00000588578.1_Silent_p.V56V|ZNF793_ENST00000587986.1_Silent_p.V56V Q6ZN11 ZN793_HUMAN zinc finger protein 793 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACCAGATGTGATCCTCAGAC 0.532000 37 81 0 0 0.004878 0 0 SLC34A1 6569 broad.mit.edu 37 5 176812796 176812796 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:176812796C>T ENST00000324417.5 + 2 145 c.54C>T c.(52-54)gtC>gtT p.V18V SLC34A1_ENST00000512593.1_Silent_p.V18V NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 18 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACTCCCAGTCCGTGGGGGGC 0.647000 29 26 0 0 0.002096 0 0 NAV3 89795 broad.mit.edu 37 12 78604241 78604241 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:78604241G>A ENST00000397909.2 + 40 7275 c.7102G>A c.(7102-7104)Gaa>Aaa p.E2368K NAV3_ENST00000228327.6_Missense_Mutation_p.E2346K|NAV3_ENST00000536525.2_Missense_Mutation_p.E2346K|NAV3_ENST00000266692.7_Missense_Mutation_p.E2169K|NAV3_ENST00000541270.1_Missense_Mutation_p.E198K Q8IVL0 NAV3_HUMAN neuron navigator 3 2368 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTGCGACAGCGAAAGCACCAG 0.388000 HNSCC(70;0.22) 8 36 0 0 0.004482 0 0 DSG3 1830 broad.mit.edu 37 18 29055678 29055678 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:29055678G>A ENST00000257189.4 + 16 2538 c.2455G>A c.(2455-2457)Gaa>Aaa p.E819K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 819 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTATGATAATGAAGGCGCAGA 0.473000 23 37 0 0 0.003330 0 0 C1orf158 93190 broad.mit.edu 37 1 12819250 12819250 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:12819250C>T ENST00000288048.5 + 3 449 c.233C>T c.(232-234)cCt>cTt p.P78L C1orf158_ENST00000376210.3_Missense_Mutation_p.P40L NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 78 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CAGGGGCTACCTTACAAACAC 0.577000 47 132 0 0 0.003610 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378726 31378726 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:31378726C>T ENST00000297142.3 - 2 479 c.157G>A c.(157-159)Gga>Aga p.G53R NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 53 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 gtttcttctccAGGGGCCCTT 0.433000 26 55 0 0 0.003954 0 0 UBR4 23352 broad.mit.edu 37 1 19454738 19454738 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:19454738G>A ENST00000375267.2 - 62 9081 c.9078C>T c.(9076-9078)tcC>tcT p.S3026S UBR4_ENST00000375217.2_Silent_p.S3019S|UBR4_ENST00000375254.3_Silent_p.S3026S|UBR4_ENST00000375226.2_Silent_p.S3002S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3026 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAATAAGCTGGGAGAGCAGGT 0.448000 43 103 0 0 0.003214 0 0 C7 730 broad.mit.edu 37 5 40945459 40945459 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:40945459C>T ENST00000313164.9 + 7 1086 c.727C>T c.(727-729)Cat>Tat p.H243Y NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 243 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CAATGAAATCCATAAAGGAAA 0.323000 20 47 0 0 0.002299 0 0 SCN9A 6335 broad.mit.edu 37 2 167142945 167142945 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:167142945C>T ENST00000375387.4 - 11 1846 c.1506G>A c.(1504-1506)tcG>tcA p.S502S SCN9A_ENST00000409435.1_Silent_p.S501S|SCN9A_ENST00000409672.1_Silent_p.S501S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.S502S Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 501 voltage-gated sodium channel complex voltage-gated sodium channel activity p.S501S(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ATTCTGATTTCGACAATTTCT 0.428000 47 46 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82453677 82453677 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:82453677G>A ENST00000423517.2 - 19 14808 c.14471C>T c.(14470-14472)cCt>cTt p.P4824L PCLO_ENST00000333891.8_Missense_Mutation_p.P4824L|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4686 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCTTTGAGAGGATACCACCT 0.398000 20 34 0 0 0.001882 0 0 EPHA3 2042 broad.mit.edu 37 3 89468381 89468381 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:89468381C>T ENST00000336596.2 + 11 2140 c.1915C>T c.(1915-1917)Cgc>Tgc p.R639C EPHA3_ENST00000494014.1_Missense_Mutation_p.R639C NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 639 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTGCAGTGGTCGCTTAAAACT 0.393000 TSP Lung(6;0.00050) 24 76 0 0 0.006320 0 0 DDHD1 80821 broad.mit.edu 37 14 53539314 53539314 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:53539314C>T ENST00000357758.3 - 6 1687 c.e6+1 DDHD1_ENST00000395606.1_Splice_Site|DDHD1_ENST00000323669.5_Splice_Site NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) ATGACACTTACTTCATCTCTA 0.318000 13 21 0 0 0.001368 0 0 CASK 8573 broad.mit.edu 37 X 41416311 41416311 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:41416311G>A ENST00000318588.9 - 19 1825 c.1780C>T c.(1780-1782)Cat>Tat p.H594Y CASK_ENST00000378163.1_Missense_Mutation_p.H594Y|CASK_ENST00000378166.4_Missense_Mutation_p.H594Y|CASK_ENST00000378158.1_Missense_Mutation_p.H594Y|CASK_ENST00000361962.4_Missense_Mutation_p.H594Y|CASK_ENST00000442742.2_Intron|CASK_ENST00000472704.1_Intron|CASK_ENST00000421587.2_Intron O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 594 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 GTGCTGCTATGACCATTAGCT 0.433000 21 2 0 0 0.006320 0 0 IL10RA 3587 broad.mit.edu 37 11 117864127 117864127 + Splice_Site SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:117864127T>A ENST00000227752.3 + 4 657 c.e4+2 IL10RA_ENST00000533700.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site|IL10RA_ENST00000545409.1_Splice_Site NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) AACTTCACGGTATGGGGTTCC 0.557000 25 7 0 0 0.004656 0 0 DBX2 440097 broad.mit.edu 37 12 45410236 45410236 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:45410236G>T ENST00000332700.6 - 4 1024 c.853C>A c.(853-855)Cag>Aag p.Q285K NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 285 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) CTTGAGTGCTGTTGGGGGACG 0.512000 24 74 2.49675e-24 4.27347e-24 0.007291 1 0 ALK 238 broad.mit.edu 37 2 29917849 29917849 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:29917849C>T ENST00000389048.3 - 3 1725 c.819G>A c.(817-819)gaG>gaA p.E273E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 273 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AATACTCCAGCTCACAGGGGA 0.567000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 24 75 0 0 0.003954 0 0 FGD5 152273 broad.mit.edu 37 3 14949198 14949198 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:14949198G>A ENST00000285046.5 + 10 3426 c.3316G>A c.(3316-3318)Gat>Aat p.D1106N FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.D865N NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1106 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GGGCCAAGGGGATCTCCTCCA 0.647000 14 33 0 0 0.004007 0 0 OR7G2 390882 broad.mit.edu 37 19 9213450 9213450 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9213450A>T ENST00000305456.2 - 1 532 c.533T>A c.(532-534)cTt>cAt p.L178H NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GCTGAGAAGAAGGGCATTCAC 0.517000 11 15 0 0 0.000978 0 0 PKLR 5313 broad.mit.edu 37 1 155264450 155264450 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:155264450C>T ENST00000392414.3 - 6 808 c.695G>A c.(694-696)gGg>gAg p.G232E PKLR_ENST00000342741.4_Missense_Mutation_p.G263E NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 263 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CTCGGACAGCCCGGGCAAGTC 0.677000 22 9 0 0 0.002299 0 0 MBD5 55777 broad.mit.edu 37 2 149226560 149226560 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:149226560C>T ENST00000407073.1 + 9 2045 c.1048C>T c.(1048-1050)Cca>Tca p.P350S MBD5_ENST00000404807.1_Missense_Mutation_p.P350S NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 350 Pro-rich. chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCAGAAAAAGCCATTAACATC 0.438000 12 22 0 0 0.000978 0 0 PROL1 58503 broad.mit.edu 37 4 71275427 71275427 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:71275427C>T ENST00000399575.2 + 3 556 c.382C>T c.(382-384)Cct>Tct p.P128S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 128 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity p.P128S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TCCTCCTATTCCTTTTTTTCT 0.433000 38 54 0 0 0.006999 0 0 PHLPP2 23035 broad.mit.edu 37 16 71701153 71701153 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:71701153G>A ENST00000393524.2 - 11 2445 c.1712C>T c.(1711-1713)cCc>cTc p.P571L PHLPP2_ENST00000568954.1_Missense_Mutation_p.P571L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.P571L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P606L|PHLPP2_ENST00000360429.3_Missense_Mutation_p.P571L Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 645 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CACCTCGAGGGGGATGTGCTC 0.473000 27 52 0 0 0.004656 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928457 31928457 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31928457C>T ENST00000375394.2 + 6 597 c.484C>T c.(484-486)Ccc>Tcc p.P162S SKIV2L_ENST00000544581.1_Intron|SKIV2L_ENST00000488648.1_3'UTR NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 162 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GATGGATGAACCCACCATAAC 0.527000 103 1088 0 0 0.003610 0 0 RYR1 6261 broad.mit.edu 37 19 38996449 38996449 + Nonsense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:38996449A>T ENST00000355481.4 + 54 8535 c.8404A>T c.(8404-8406)Aaa>Taa p.K2802* RYR1_ENST00000359596.3_Nonsense_Mutation_p.K2802*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.K2802* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2802 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCCCAGGACAAAGAGATTTA 0.577000 8 18 0 0 0.004482 0 0 NPAS4 266743 broad.mit.edu 37 11 66191616 66191616 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:66191616G>A ENST00000311034.2 + 7 1431 c.1255G>A c.(1255-1257)Gat>Aat p.D419N NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 419 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 ACTAAGCAAGGATCTTGTGTG 0.557000 47 55 0 0 0.003610 0 0 NBPF1 55672 broad.mit.edu 37 1 16902764 16902764 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:16902764G>A ENST00000430580.2 - 19 3004 c.2117C>T c.(2116-2118)cCa>cTa p.P706L NBPF1_ENST00000432949.1_Missense_Mutation_p.P164L|NBPF1_ENST00000287968.8_Missense_Mutation_p.P71L NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 706 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) CACCTTACCTGGGCTGAGCTT 0.537000 14 355 0 0 0.001523 0 0 SYT16 83851 broad.mit.edu 37 14 62536400 62536400 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:62536400C>T ENST00000430451.2 + 2 800 c.603C>T c.(601-603)tcC>tcT p.S201S RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Silent_p.S201S NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 201 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TTGAGATTTCCGTGTCCCGGT 0.483000 40 47 0 0 0.002522 0 0 RBM24 221662 broad.mit.edu 37 6 17292259 17292259 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:17292259G>A ENST00000379052.5 + 4 856 c.620G>A c.(619-621)gGg>gAg p.G207E RBM24_ENST00000318204.5_Missense_Mutation_p.G162E|RBM24_ENST00000425446.2_Missense_Mutation_p.G149E|RBM24_ENST00000508508.1_3'UTR NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 207 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) GCGGCACCTGGGACAgctgcc 0.622000 6 24 0 0 0.001168 0 0 FAM161A 84140 broad.mit.edu 37 2 62067438 62067438 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:62067438G>A ENST00000404929.1 - 3 712 c.701C>T c.(700-702)cCc>cTc p.P234L FAM161A_ENST00000405894.3_Missense_Mutation_p.P234L NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 234 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGTAATTGTGGGCACCCATTC 0.363000 25 78 0 0 0.004656 0 0 POM121L9P 29774 broad.mit.edu 37 22 24658524 24658524 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:24658524C>T ENST00000414583.2 + 0 2941 NR_003714.1 CCGACATGTCCTTCTTATCTG 0.562000 12 28 0 0 0.003163 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42853643 42853643 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:42853643C>T ENST00000455697.1 - 8 2749 c.2464G>A c.(2464-2466)Gga>Aga p.G822R PRICKLE1_ENST00000548696.1_Missense_Mutation_p.G822R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.G822R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.G822R|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.G822R|RP11-328C8.4_ENST00000547824.1_RNA NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 822 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CCCTTGTGTCCCTTTTTCTTC 0.398000 22 103 0 0 0.001882 0 0 DHX40 79665 broad.mit.edu 37 17 57650525 57650525 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:57650525C>T ENST00000451169.2 + 4 537 c.178C>T c.(178-180)Ctg>Ttg p.L60L DHX40_ENST00000251241.4_Silent_p.L159L|DHX40_ENST00000425628.3_Silent_p.L82L Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 159 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GAAACATATTCTGGGAGACCC 0.328000 119 60 0 0 0.003610 0 0 TNS1 7145 broad.mit.edu 37 2 218712399 218712399 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:218712399G>A ENST00000171887.4 - 17 2918 c.2466C>T c.(2464-2466)ttC>ttT p.F822F TNS1_ENST00000419504.1_Silent_p.F822F|TNS1_ENST00000430930.1_Silent_p.F822F NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 822 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGGTCGGAAGGAAGGCAGGCA 0.582000 20 26 0 0 0.007413 0 0 ILDR2 387597 broad.mit.edu 37 1 166896407 166896407 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:166896407A>G ENST00000271417.3 - 7 946 c.891T>C c.(889-891)ggT>ggC p.G297G ILDR2_ENST00000529071.1_Silent_p.G278G|ILDR2_ENST00000528703.1_Silent_p.G238G|ILDR2_ENST00000526687.1_Silent_p.G189G|ILDR2_ENST00000525740.1_Silent_p.G170G|ILDR2_ENST00000469934.2_Silent_p.G297G|ILDR2_ENST00000529387.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 297 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GGATCCGGTAACCTTTGCGAA 0.453000 95 41 0 0 0.003610 0 0 HSF2 3298 broad.mit.edu 37 6 122743417 122743417 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:122743417T>G ENST00000452194.1 + 8 991 c.804T>G c.(802-804)aaT>aaG p.N268K HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.N268K NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 268 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) CAGAAACTAATGAGGATGTTA 0.308000 60 96 0 0 0.003610 0 0 ASRGL1 80150 broad.mit.edu 37 11 62159581 62159581 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:62159581C>T ENST00000415229.2 + 7 967 c.752C>T c.(751-753)tCg>tTg p.S251L ASRGL1_ENST00000301776.5_Missense_Mutation_p.S251L|CTD-2531D15.5_ENST00000526045.1_RNA NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 251 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) GCGGACCTATCGTTGGGTTAT 0.478000 OREG0021023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 43 0 0 0.005443 0 0 PAPSS1 9061 broad.mit.edu 37 4 108603283 108603283 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:108603283G>A ENST00000265174.4 - 5 829 c.557C>T c.(556-558)aCt>aTt p.T186I PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 186 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) ATCGATCCCAGTGAAACCTGC 0.383000 35 57 0 0 0.005524 0 0 CRABP2 1382 broad.mit.edu 37 1 156670740 156670740 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:156670740C>G ENST00000368222.3 - 2 329 c.175G>C c.(175-177)Gtg>Ctg p.V59L CRABP2_ENST00000368221.1_Missense_Mutation_p.V59L NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 59 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) GTGGTGCGCACGGTGGTGGAG 0.547000 13 57 0 0 0.002450 0 0 DSP 1832 broad.mit.edu 37 6 7581101 7581101 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:7581101C>T ENST00000379802.3 + 23 5019 c.4678C>T c.(4678-4680)Cag>Tag p.Q1560* DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1560 Central fibrous rod domain. 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) CACGCGGTTCCAGAACTCTCT 0.527000 29 157 0 0 0.006320 0 0 FAM49A 81553 broad.mit.edu 37 2 16740731 16740731 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:16740731G>A ENST00000381323.3 - 10 1054 c.834C>T c.(832-834)atC>atT p.I278I FAM49A_ENST00000355549.2_Silent_p.I278I|FAM49A_ENST00000406434.1_Silent_p.I278I NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 278 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TTCTTACATCGATCTTGGATG 0.483000 37 81 0 0 0.005524 0 0 ATP1A2 477 broad.mit.edu 37 1 160105224 160105224 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:160105224G>A ENST00000361216.3 + 16 2205 c.2115_splice c.e16-1 p.G706_splice ATP1A2_ENST00000392233.3_Splice_Site_p.G706_splice|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 706 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TTCCCTCCAGGGAGCCATTGT 0.617000 9 58 0 0 0.000673 0 0 PRKACG 5568 broad.mit.edu 37 9 71628097 71628097 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:71628097G>A ENST00000377276.2 - 1 942 c.912C>T c.(910-912)atC>atT p.I304I NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 304 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CATAGATGGCGATCCAGCTGG 0.572000 24 93 0 0 0.004656 0 0 PRR19 284338 broad.mit.edu 37 19 42813859 42813859 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:42813859C>T ENST00000499536.2 + 1 934 c.123C>T c.(121-123)gcC>gcT p.A41A PRR19_ENST00000341747.3_Silent_p.A41A|PRR19_ENST00000598490.1_Silent_p.A41A A6NJB7 PRR19_HUMAN proline rich 19 41 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GGCCATTAGCCCACCACGATC 0.647000 20 29 0 0 0.001523 0 0 BRF1 2972 broad.mit.edu 37 14 105685585 105685585 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:105685585G>A ENST00000440513.3 - 13 1511 c.1083C>T c.(1081-1083)ttC>ttT p.F361F BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000547530.1_Intron|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000392557.4_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000327359.3_Intron NM_001242786.1 NP_001229715.1 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 459 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CGAGCACAGGGAAGTGGGGCT 0.622000 16 16 0 0 0.004007 0 0 GIT2 9815 broad.mit.edu 37 12 110429562 110429562 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:110429562G>A ENST00000360185.4 - 2 220 c.56C>T c.(55-57)cCt>cTt p.P19L GIT2_ENST00000338373.5_Missense_Mutation_p.P19L|GIT2_ENST00000551209.1_Missense_Mutation_p.P19L|GIT2_ENST00000457474.2_Missense_Mutation_p.P19L|GIT2_ENST00000355312.3_Missense_Mutation_p.P19L|GIT2_ENST00000320063.9_Missense_Mutation_p.P19L|GIT2_ENST00000553118.1_Missense_Mutation_p.P19L|GIT2_ENST00000356259.4_Missense_Mutation_p.P19L|GIT2_ENST00000343646.5_Missense_Mutation_p.P19L|GIT2_ENST00000361006.5_Missense_Mutation_p.P19L|GIT2_ENST00000547815.1_Missense_Mutation_p.P19L|GIT2_ENST00000354574.4_Missense_Mutation_p.P19L Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 19 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 TGCCCAGGAAGGATCTGGAAA 0.478000 16 48 0 0 0.007413 0 0 UBD 10537 broad.mit.edu 37 6 29523759 29523759 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29523759C>T ENST00000377050.4 - 2 619 c.396G>A c.(394-396)gtG>gtA p.V132V GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 132 Ubiquitin 2. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CATTGCAAGTCACAATCTGGG 0.488000 30 114 0 0 0.001512 0 0 C6orf15 29113 broad.mit.edu 37 6 31079437 31079437 + Silent SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31079437T>G ENST00000259870.3 - 2 702 c.699A>C c.(697-699)ccA>ccC p.P233P NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 233 Gly-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 CCTCAGGGTGTGGCATGGGCC 0.567000 25 87 0 0 0.003954 0 0 COL17A1 1308 broad.mit.edu 37 10 105798213 105798213 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:105798213G>A ENST00000353479.5 - 45 3311 c.3021C>T c.(3019-3021)atC>atT p.I1007I COL17A1_ENST00000369733.3_Silent_p.I962I NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1007 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CAGAGCTGCTGATAGAGCCCG 0.597000 106 59 0 0 0.003610 0 0 GOLGB1 2804 broad.mit.edu 37 3 121416026 121416026 + Nonsense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:121416026A>T ENST00000393667.3 - 13 3454 c.3344T>A c.(3343-3345)tTg>tAg p.L1115* GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.L1110* NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1110 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGCTTGGAGCAAATCTATTTG 0.418000 38 88 0 0 0.004289 0 0 MYH4 4622 broad.mit.edu 37 17 10355446 10355446 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:10355446C>T ENST00000255381.2 - 27 3660 c.3550G>A c.(3550-3552)Gag>Aag p.E1184K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1184 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGGGTGGACTCTTCCAGGTCC 0.587000 31 39 0 0 0.001786 0 0 ANK3 288 broad.mit.edu 37 10 61835777 61835777 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:61835777G>A ENST00000280772.1 - 37 5053 c.4862C>T c.(4861-4863)tCc>tTc p.S1621F ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1621 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTTCGAGAGGAAAACGTAGA 0.478000 24 32 0 0 0.003954 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457412 21457412 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:21457412T>C ENST00000307378.6 - 7 1258 c.538A>G c.(538-540)Att>Gtt p.I180V SLCO1A2_ENST00000458504.1_Missense_Mutation_p.I48V|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.I178V|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.I180V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.I48V NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 180 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 ATATAGGAAATACCCAAAGGC 0.368000 15 26 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179501144 179501144 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179501144C>T ENST00000589042.1 - 225 41534 c.41310G>A c.(41308-41310)acG>acA p.T13770T TTN_ENST00000359218.5_Silent_p.T4830T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.T4897T|TTN_ENST00000591111.1_Silent_p.T12129T|TTN_ENST00000460472.2_Silent_p.T4705T|TTN_ENST00000342992.6_Silent_p.T11202T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12129 Ig-like 94. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAGTTTAGCCGTGGAGGTCT 0.353000 13 17 0 0 0.001368 0 0 RIPK3 11035 broad.mit.edu 37 14 24808511 24808511 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:24808511C>T ENST00000216274.5 - 3 399 c.181G>A c.(181-183)Gtc>Atc p.V61I RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 61 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) ATGGCCTTGACCTCCCTGGAT 0.582000 30 38 0 0 0.002445 0 0 MYO18B 84700 broad.mit.edu 37 22 26242247 26242247 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:26242247G>A ENST00000335473.7 + 19 3799 c.3549G>A c.(3547-3549)caG>caA p.Q1183Q MYO18B_ENST00000407587.2_Silent_p.Q1184Q|MYO18B_ENST00000536101.1_Silent_p.Q1183Q NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1183 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TCAAGCTGCAGATGGTGAGTG 0.612000 17 28 0 0 0.001523 0 0 SEMA4A 64218 broad.mit.edu 37 1 156127865 156127865 + Missense_Mutation SNP C C T rs143382589 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:156127865C>T ENST00000368285.3 + 4 572 c.305C>T c.(304-306)cCg>cTg p.P102L SEMA4A_ENST00000368284.1_Missense_Mutation_p.P3L|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P102L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.P3L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P102L|SEMA4A_ENST00000487358.1_3'UTR NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 102 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TTTCAGATACCGTGGCCAGCC 0.498000 11 43 0 0 0.000978 0 0 MFSD7 84179 broad.mit.edu 37 4 679631 679631 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:679631G>A ENST00000322224.4 - 4 891 c.578C>T c.(577-579)cCg>cTg p.P193L MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.P193L|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.P129L Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 193 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 CACCATTAACGGAATGTCCTC 0.587000 15 73 0 0 0.004007 0 0 CSMD3 114788 broad.mit.edu 37 8 113599463 113599463 + Splice_Site SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:113599463A>C ENST00000297405.5 - 23 3961 c.3715_splice c.e23-1 p.A1239_splice CSMD3_ENST00000352409.3_Splice_Site_p.A1239_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A1199_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A1135_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1239 Sushi 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CACCACATTCAGCTGCAGGTA 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 105 0 0 0.003163 0 0 LTBP4 8425 broad.mit.edu 37 19 41129549 41129549 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:41129549G>A ENST00000308370.7 + 29 3795 c.3795G>A c.(3793-3795)aaG>aaA p.K1265K LTBP4_ENST00000204005.9_Silent_p.K1228K|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.K633K|LTBP4_ENST00000396819.3_Silent_p.K1198K|LTBP4_ENST00000243562.9_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1266 EGF-like 13; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGTGTGCAAGAGTGGCGTGT 0.592000 10 11 0 0 0.000673 0 0 ZNF99 7652 broad.mit.edu 37 19 22951111 22951111 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:22951111G>A ENST00000397104.3 - 3 284 c.285C>T c.(283-285)ccC>ccT p.P95P ZNF99_ENST00000596209.1_Silent_p.P74P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATACCTGGGGGTTTAGTTA 0.433000 9 11 0 0 0.006214 0 0 ALKBH7 84266 broad.mit.edu 37 19 6374273 6374273 + Translation_Start_Site SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:6374273C>A ENST00000596657.1 + 0 147 ALKBH7_ENST00000245812.3_Silent_p.I88I|ALKBH7_ENST00000599849.1_Silent_p.I27I Q9BT30 ALKB7_HUMAN alkB, alkylation repair homolog 7 (E. coli) extracellular region|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GCCGGGCCATCCTGCAGCGCG 0.682000 18 18 3.51602e-12 5.992e-12 0.001216 1 0 RSPO1 284654 broad.mit.edu 37 1 38078451 38078451 + Silent SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:38078451T>C ENST00000356545.2 - 8 1555 c.768A>G c.(766-768)ccA>ccG p.P256P RSPO1_ENST00000401069.1_Silent_p.P256P|RSPO1_ENST00000373059.1_Silent_p.P229P|RSPO1_ENST00000401071.2_Silent_p.P193P|RSPO1_ENST00000401070.1_Silent_p.P193P|RSPO1_ENST00000401068.1_Silent_p.P256P NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 256 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CAGATGTGAGTGGCCCCACTG 0.602000 32 99 0 0 0.002096 0 0 CFB 629 broad.mit.edu 37 6 31918170 31918170 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31918170G>A ENST00000456570.1 + 24 3175 c.3120G>A c.(3118-3120)aaG>aaA p.K1040K CFB_ENST00000477310.1_Silent_p.K889K|CFB_ENST00000425368.2_Silent_p.K538K|CFB_ENST00000556679.1_Silent_p.K1040K P00751 CFAB_HUMAN complement factor B 538 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 ACTCAATCAAGGTCAGCGTAG 0.522000 114 780 0 0 0.003610 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49364692 49364692 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:49364692G>A ENST00000263265.6 - 5 887 c.332C>T c.(331-333)cCg>cTg p.P111L PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P111L NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 111 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGGGGCTCCCGGCCCATCTGG 0.607000 34 50 0 0 0.006230 0 0 SCUBE2 57758 broad.mit.edu 37 11 9074719 9074719 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:9074719G>A ENST00000457346.2 - 12 1448 c.1374C>T c.(1372-1374)tcC>tcT p.S458S SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Silent_p.S458S|SCUBE2_ENST00000309263.3_Silent_p.S458S|RP11-467K18.2_ENST00000531592.1_RNA Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 458 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CGCAGTGCAGGGACACACGGG 0.552000 11 22 0 0 0.000978 0 0 LILRP2 79166 broad.mit.edu 37 19 55221329 55221329 + RNA SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55221329T>A ENST00000413439.1 + 0 1118 CGACTCTTCTTTCCCTCCAGG 0.627000 8 12 0 0 0.006214 0 0 DNAH10 196385 broad.mit.edu 37 12 124377950 124377950 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:124377950G>A ENST00000409039.3 + 52 8837 c.8812G>A c.(8812-8814)Gac>Aac p.D2938N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2938 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCCAGTGGGGGACACCCTGAG 0.582000 26 66 0 0 0.001786 0 0 TPCN1 53373 broad.mit.edu 37 12 113717964 113717964 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:113717964A>G ENST00000550785.1 + 16 1691 c.1522A>G c.(1522-1524)Atc>Gtc p.I508V TPCN1_ENST00000335509.6_Missense_Mutation_p.I436V|TPCN1_ENST00000541517.1_Missense_Mutation_p.I508V|TPCN1_ENST00000392569.4_Missense_Mutation_p.I368V NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 436 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 AGGTATTAATATCCTTGTGAA 0.393000 16 54 0 0 0.001216 0 0 CRY1 1407 broad.mit.edu 37 12 107391385 107391385 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:107391385G>A ENST00000008527.5 - 9 2240 c.1373C>T c.(1372-1374)gCc>gTc p.A458V NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 458 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 CAAACATTTGGCTACCTTTTG 0.413000 16 60 0 0 0.006122 0 0 KRT25 147183 broad.mit.edu 37 17 38910165 38910165 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:38910165G>A ENST00000312150.4 - 3 676 c.616C>T c.(616-618)Cag>Tag p.Q206* NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 206 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GTTTCATACTGAATCTCCAGA 0.448000 84 57 0 0 0.003610 0 0 TMEM105 284186 broad.mit.edu 37 17 79287651 79287651 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:79287651G>A ENST00000332900.1 - 3 739 c.190C>T c.(190-192)Cct>Tct p.P64S NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 64 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) TCCCCCCAAGGAGACCGAGGT 0.622000 56 33 0 0 0.003610 0 0 LHX2 9355 broad.mit.edu 37 9 126783392 126783392 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:126783392G>A ENST00000373615.4 + 4 1481 c.742G>A c.(742-744)Gaa>Aaa p.E248K NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 248 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 AAGCTGCAACGAAAACGACGC 0.612000 16 3 0 0 0.004990 0 0 TUBE1 51175 broad.mit.edu 37 6 112397626 112397626 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:112397626G>A ENST00000368662.5 - 7 613 c.535C>T c.(535-537)Cct>Tct p.P179S TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 179 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TCACCAGAAGGATAAATGGAA 0.398000 26 20 0 0 0.003954 0 0 SHH 6469 broad.mit.edu 37 7 155596398 155596398 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:155596398C>T ENST00000297261.2 - 3 735 c.585G>A c.(583-585)tcG>tcA p.S195S NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 195 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGCCTCCCGATTTGGCCG 0.692000 5 7 0 0 0.001168 0 0 TG 7038 broad.mit.edu 37 8 133900623 133900623 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:133900623C>T ENST00000220616.4 + 10 2611 c.2571C>T c.(2569-2571)ccC>ccT p.P857P TG_ENST00000377869.1_Silent_p.P857P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 857 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGCCCCAGCCCAGGGAGAATA 0.552000 11 83 0 0 0.001368 0 0 GPR179 440435 broad.mit.edu 37 17 36499518 36499518 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:36499518G>A ENST00000342292.4 - 1 175 c.155C>T c.(154-156)cCc>cTc p.P52L NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 52 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCCCTCTAGGGGCACCTGCAT 0.617000 33 19 0 0 0.006230 0 0 ZNF154 7710 broad.mit.edu 37 19 58213273 58213273 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:58213273C>T ENST00000512439.2 - 3 1240 c.1044G>A c.(1042-1044)cgG>cgA p.R348R AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Silent_p.R348R Q13106 ZN154_HUMAN zinc finger protein 154 348 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGTGAACTCCCCGATGTTGAA 0.498000 23 64 0 0 0.002299 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459306 92459306 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:92459306G>A ENST00000318445.6 + 2 478 c.264G>A c.(262-264)ggG>ggA p.G88G SLCO3A1_ENST00000424469.2_Silent_p.G88G NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 88 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TCGAGATCGGGAACCTGGCGC 0.672000 18 24 0 0 0.001216 0 0 TMEM68 137695 broad.mit.edu 37 8 56663611 56663611 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:56663611A>T ENST00000434581.2 - 5 798 c.599T>A c.(598-600)gTt>gAt p.V200D TMEM68_ENST00000519784.1_Missense_Mutation_p.V86D|TMEM68_ENST00000334667.2_Missense_Mutation_p.V200D|TMEM68_ENST00000523073.1_Missense_Mutation_p.V86D Q96MH6 TMM68_HUMAN transmembrane protein 68 200 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) GGCTTCTCGAACTCCACCTGG 0.413000 18 93 0 0 0.007413 0 0 EVPL 2125 broad.mit.edu 37 17 74015056 74015056 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:74015056C>T ENST00000301607.3 - 11 1476 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q EVPL_ENST00000586740.1_Missense_Mutation_p.R408Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 408 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGGTTTCTTCGCTGTGGCAG 0.682000 21 11 0 0 0.001882 0 0 DVL2 1856 broad.mit.edu 37 17 7132931 7132931 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:7132931C>T ENST00000005340.5 - 6 1005 c.723G>A c.(721-723)aaG>aaA p.K241K DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.K235K NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 241 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 GTGGCCTCTGCTTCCTTCGCC 0.647000 22 41 0 0 0.002780 0 0 ADAM12 8038 broad.mit.edu 37 10 127755327 127755327 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:127755327C>T ENST00000368679.4 - 13 1690 c.1381G>A c.(1381-1383)Gac>Aac p.D461N ADAM12_ENST00000368676.4_Missense_Mutation_p.D461N|ADAM12_ENST00000467145.1_5'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 461 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CACACAGCGTCCGGCTTCAGG 0.547000 11 18 0 0 0.000978 0 0 ZZEF1 23140 broad.mit.edu 37 17 3937384 3937384 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:3937384C>T ENST00000381638.2 - 40 6633 c.6509G>A c.(6508-6510)gGg>gAg p.G2170E NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2170 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGAACTGTCCCCTGCAGCAAA 0.542000 40 62 0 0 0.003610 0 0 SCN4A 6329 broad.mit.edu 37 17 62019354 62019354 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:62019354C>T ENST00000435607.1 - 24 4365 c.e24-1 SCN4A_ENST00000578147.1_Splice_Site NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGGGCAAGGCCTGCGGGGAGA 0.682000 4 10 0 0 0.001168 0 0 PCDH15 65217 broad.mit.edu 37 10 55944921 55944921 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:55944921C>T ENST00000373965.2 - 13 1828 c.1434G>A c.(1432-1434)agG>agA p.R478R PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.R471R|PCDH15_ENST00000414778.1_Silent_p.R476R|PCDH15_ENST00000395433.1_Silent_p.R449R|PCDH15_ENST00000409834.1_Silent_p.R82R|PCDH15_ENST00000395432.2_Silent_p.R434R|PCDH15_ENST00000373955.1_Silent_p.R471R|PCDH15_ENST00000437009.1_Silent_p.R471R|PCDH15_ENST00000320301.6_Silent_p.R471R|PCDH15_ENST00000395438.1_Silent_p.R471R|PCDH15_ENST00000395445.1_Silent_p.R478R|PCDH15_ENST00000395430.1_Silent_p.R471R|PCDH15_ENST00000395446.1_Silent_p.R471R|PCDH15_ENST00000373957.3_Silent_p.R449R|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 471 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GCTGTTCTTCCCTGTCCACTG 0.398000 HNSCC(58;0.16) 25 26 0 0 0.004656 0 0 OR51B6 390058 broad.mit.edu 37 11 5373580 5373580 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:5373580C>T ENST00000380219.1 + 1 843 c.843C>T c.(841-843)ttC>ttT p.F281F HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F281F(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTTCCTTTTCCCACCTTTTA 0.383000 26 50 0 0 0.003330 0 0 OR10J1 26476 broad.mit.edu 37 1 159409836 159409836 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159409836C>T ENST00000423932.3 + 1 325 c.288C>T c.(286-288)ctC>ctT p.L96L RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 96 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCTCCAGCCTCGTAGGTATGA 0.468000 50 27 0 0 0.003610 0 0 SCN5A 6331 broad.mit.edu 37 3 38622667 38622667 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:38622667G>A ENST00000413689.1 - 17 3176 c.2983C>T c.(2983-2985)Ctt>Ttt p.L995F SCN5A_ENST00000425664.1_Missense_Mutation_p.L995F|SCN5A_ENST00000443581.1_Missense_Mutation_p.L995F|SCN5A_ENST00000423572.2_Missense_Mutation_p.L995F|SCN5A_ENST00000449557.2_Missense_Mutation_p.L995F|SCN5A_ENST00000414099.2_Missense_Mutation_p.L995F|SCN5A_ENST00000450102.2_Missense_Mutation_p.L995F|SCN5A_ENST00000451551.2_Missense_Mutation_p.L995F|SCN5A_ENST00000455624.2_Missense_Mutation_p.L995F|SCN5A_ENST00000333535.4_Missense_Mutation_p.L995F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 995 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGGGCGGCAAGGGCTGCGGGC 0.687000 4 17 0 0 0.000248 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3390083 3390083 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:3390083G>A ENST00000378378.4 + 8 1707 c.1302G>A c.(1300-1302)atG>atA p.M434I ARHGEF16_ENST00000413250.2_Missense_Mutation_p.M138I|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.M146I|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.M146I NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 434 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CCCTCCTGATGGATGTAAGTC 0.672000 15 67 0 0 0.004990 0 0 FAT4 79633 broad.mit.edu 37 4 126411747 126411747 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:126411747C>T ENST00000394329.3 + 17 13783 c.13770C>T c.(13768-13770)taC>taT p.Y4590Y FAT4_ENST00000335110.5_Silent_p.Y2831Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4590 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAAACCCCTACCTTATCTATG 0.473000 28 23 0 0 0.006320 0 0 UNK 85451 broad.mit.edu 37 17 73805988 73805988 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:73805988C>T ENST00000293218.3 + 3 480 c.480C>T c.(478-480)taC>taT p.Y160Y UNK_ENST00000589666.1_Silent_p.Y84Y Q9C0B0 UNK_HUMAN unkempt family zinc finger 84 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTTCAATTACAGCCCTGACG 0.642000 40 24 0 0 0.007835 0 0 SPAG17 200162 broad.mit.edu 37 1 118567984 118567984 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:118567984G>A ENST00000336338.5 - 27 3851 c.3786C>T c.(3784-3786)taC>taT p.Y1262Y NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1262 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCCTCTGGGGGTAGCTCTGAC 0.473000 32 80 0 0 0.006230 0 0 IGSF10 285313 broad.mit.edu 37 3 151155730 151155730 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:151155730C>T ENST00000282466.3 - 6 6618 c.6619G>A c.(6619-6621)Gat>Aat p.D2207N IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2207 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTCCAGAATCGAGCAGTTTC 0.428000 23 67 0 0 0.005443 0 0 FOXI2 399823 broad.mit.edu 37 10 129537088 129537088 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:129537088C>T ENST00000388920.4 + 2 855 c.816C>T c.(814-816)ttC>ttT p.F272F NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 272 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) ACTTTTCTTTCGGGAGGCGGC 0.716000 4 8 0 0 0.000248 0 0 HMCN1 83872 broad.mit.edu 37 1 186083184 186083184 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:186083184C>T ENST00000271588.4 + 73 11434 c.11205C>T c.(11203-11205)atC>atT p.I3735I HMCN1_ENST00000367492.2_Silent_p.I3735I NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3735 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGGAATGCATCGCTGAAGGTG 0.408000 82 93 0 0 0.003610 0 0 C6orf25 80739 broad.mit.edu 37 6 31692559 31692559 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31692559G>A ENST00000375809.3 + 5 589 c.578G>A c.(577-579)cGa>cAa p.R193Q C6orf25_ENST00000480039.1_Missense_Mutation_p.E187K|C6orf25_ENST00000375805.2_Missense_Mutation_p.E163K|C6orf25_ENST00000375810.4_Missense_Mutation_p.R193Q NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TGTGAAAACCGAGCCCCAGAG 0.572000 72 482 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 20975684 20975684 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:20975684G>A ENST00000261383.3 - 53 9521 c.9522C>T c.(9520-9522)acC>acT p.T3174T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3174 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCTCAAACGGGTTGTGATGT 0.453000 31 50 0 0 0.001512 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103433413 103433413 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:103433413C>T ENST00000361246.2 - 17 2729 c.2441G>A c.(2440-2442)tGg>tAg p.W814* NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 814 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CTGAGCTTCCCAGTGGGCCAC 0.562000 22 21 0 0 0.003330 0 0 HMP19 51617 broad.mit.edu 37 5 173531337 173531337 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:173531337A>T ENST00000303177.3 + 4 582 c.320A>T c.(319-321)tAt>tTt p.Y107F NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR NM_015980.4 NP_057064.1 GGATTCGTCTATAAGGTAAGA 0.478000 13 46 0 0 0.004007 0 0 ADAD2 161931 broad.mit.edu 37 16 84227702 84227702 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:84227702G>A ENST00000268624.3 + 2 602 c.509G>A c.(508-510)aGa>aAa p.R170K RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Intron NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 0 DRBM. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TTCCTCCTGAGAACAGGGTGg 0.522000 23 36 0 0 0.001882 0 0 CFB 629 broad.mit.edu 37 6 31911475 31911475 + Missense_Mutation SNP C C T rs143869308 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31911475C>T ENST00000456570.1 + 10 1218 c.1163C>T c.(1162-1164)tCc>tTc p.S388F C2_ENST00000442278.2_Missense_Mutation_p.S409F|C2_ENST00000452323.2_Missense_Mutation_p.S327F|C2_ENST00000469372.1_Missense_Mutation_p.S295F|CFB_ENST00000477310.1_Missense_Mutation_p.S312F|C2_ENST00000468407.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.S388F|C2_ENST00000299367.5_Missense_Mutation_p.S541F P00751 CFAB_HUMAN complement factor B 556 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GCGGTGATCTCCCCAGGGTTT 0.498000 146 977 0 0 0.003610 0 0 HSF1 3297 broad.mit.edu 37 8 145535766 145535766 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:145535766C>T ENST00000528838.1 + 9 1138 c.978C>T c.(976-978)tcC>tcT p.S326S HSF1_ENST00000400780.4_Silent_p.S261S NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 326 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CCCTCTTGTCCCCGACCGCCC 0.711000 12 57 0 0 0.003163 0 0 DENND1A 57706 broad.mit.edu 37 9 126144642 126144642 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:126144642G>A ENST00000373624.2 - 22 2300 c.2099C>T c.(2098-2100)cCc>cTc p.P700L DENND1A_ENST00000542603.1_Missense_Mutation_p.P485L|DENND1A_ENST00000394219.3_Missense_Mutation_p.P711L|DENND1A_ENST00000473039.1_5'UTR NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 700 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 TTGGGGCCGGGGGATGGTGAT 0.692000 12 8 0 0 0.001368 0 0 KMT2B 9757 broad.mit.edu 37 19 36214692 36214692 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:36214692C>T ENST00000222270.7 + 8 3118 c.3118C>T c.(3118-3120)Cct>Tct p.P1040S KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P1040S NM_014727.1 NP_055542.1 TGAGGCCTCCCCTGGTCCTCC 0.687000 3 10 0 0 0.004672 0 0 FAT4 79633 broad.mit.edu 37 4 126371308 126371308 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:126371308C>T ENST00000394329.3 + 9 9150 c.9137C>T c.(9136-9138)tCc>tTc p.S3046F FAT4_ENST00000335110.5_Missense_Mutation_p.S1344F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3046 Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTAGCATCCTCCCTGATTTCT 0.383000 11 17 0 0 0.000978 0 0 ADCY6 112 broad.mit.edu 37 12 49162479 49162479 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:49162479C>T ENST00000307885.4 - 21 4096 c.3402G>A c.(3400-3402)caG>caA p.Q1134Q ADCY6_ENST00000550422.1_Silent_p.Q1081Q|ADCY6_ENST00000357869.3_Silent_p.Q1081Q NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 1134 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 integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CAGCTAGAACCTGGTACAGGT 0.622000 21 44 0 0 0.002299 0 0 SPAG1 6674 broad.mit.edu 37 8 101243404 101243404 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:101243404C>G ENST00000388798.2 + 15 2067 c.1876C>G c.(1876-1878)Ctt>Gtt p.L626V SPAG1_ENST00000523302.1_3'UTR|SPAG1_ENST00000251809.3_Missense_Mutation_p.L626V NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 626 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) ATTTAAAGCCCTTAAGGAAGA 0.318000 32 180 0 0 0.002096 0 0 ARMC2 84071 broad.mit.edu 37 6 109274522 109274522 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:109274522C>T ENST00000392644.4 + 13 2051 c.1883C>T c.(1882-1884)cCg>cTg p.P628L ARMC2_ENST00000368972.3_Missense_Mutation_p.P463L NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 628 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) GCCGCCAACCCGGGGATAGTG 0.652000 9 14 0 0 0.004482 0 0 TTC21A 199223 broad.mit.edu 37 3 39152380 39152380 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:39152380G>A ENST00000301819.6 + 4 484 c.307G>A c.(307-309)Gaa>Aaa p.E103K TTC21A_ENST00000440121.1_Missense_Mutation_p.E103K|TTC21A_ENST00000431162.2_Missense_Mutation_p.E103K NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 103 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAGCCTGAAGGAAATACGCAA 0.507000 17 35 0 0 0.006122 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3682099 3682099 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:3682099G>A ENST00000344754.4 - 6 1417 c.1418C>T c.(1417-1419)tCc>tTc p.S473F SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S473F NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 473 Ig-like C2-type 4. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CAGGCGCAGGGAGTTGGGACC 0.597000 17 63 0 0 0.007413 0 0 TNRC18 84629 broad.mit.edu 37 7 5391481 5391481 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:5391481G>A ENST00000399537.4 - 17 5787 c.5439C>T c.(5437-5439)ttC>ttT p.F1813F TNRC18_ENST00000430969.1_Silent_p.F1813F O15417 TNC18_HUMAN trinucleotide repeat containing 18 1813 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AAGAGTCGCTGAAGGAGGAAC 0.597000 7 71 0 0 0.004482 0 0 HGFAC 3083 broad.mit.edu 37 4 3446151 3446151 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:3446151G>A ENST00000382774.3 + 6 827 c.712G>A c.(712-714)Gaa>Aaa p.E238K HGFAC_ENST00000511533.1_Missense_Mutation_p.E238K NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 238 Fibronectin type-I. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GACCTGGTGCGAAGGCACCCG 0.697000 13 16 0 0 0.003163 0 0 PRB3 5544 broad.mit.edu 37 12 11420678 11420678 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:11420678C>T ENST00000381842.3 - 0 542 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGGTTTCCTCCTTGTGGGGGT 0.652000 44 74 0 0 0.003610 0 0 CREBBP 1387 broad.mit.edu 37 16 3777962 3777962 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:3777962G>A ENST00000262367.5 - 31 7895 c.7086C>T c.(7084-7086)agC>agT p.S2362S CREBBP_ENST00000382070.3_Silent_p.S2324S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2362 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGGTGACGGGCTGGAATGTG 0.652000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 26 42 0 0 0.002445 0 0 BCL2L14 79370 broad.mit.edu 37 12 12247624 12247624 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:12247624C>A ENST00000586576.1 + 7 952 c.804C>A c.(802-804)ggC>ggA p.G268G BCL2L14_ENST00000396367.1_Silent_p.G235G|BCL2L14_ENST00000308721.5_Silent_p.G235G|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000266434.4_3'UTR|BCL2L14_ENST00000589718.1_Silent_p.G235G Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 235 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) CTTTGATGGGCCACTTCCAGG 0.493000 49 61 2.31418e-15 3.94896e-15 0.003610 1 0 MROH7 374977 broad.mit.edu 37 1 55136554 55136554 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:55136554C>T ENST00000414150.2 + 7 1829 c.1551C>T c.(1549-1551)tcC>tcT p.S517S MROH7_ENST00000421030.2_Silent_p.S517S|MROH7_ENST00000454855.2_Silent_p.S35S|MROH7_ENST00000545244.1_Silent_p.S85S|MROH7_ENST00000395690.2_Silent_p.S517S|MROH7_ENST00000409996.1_Silent_p.S85S|MROH7_ENST00000339553.5_Silent_p.S517S maestro heat-like repeat family member 7 CCCTGCCCTCCGTGCAGGCGA 0.652000 8 6 0 0 0.000673 0 0 CD40 958 broad.mit.edu 37 20 44750951 44750951 + Silent SNP C C T rs11478618 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:44750951C>T ENST00000372285.3 + 3 282 c.210C>T c.(208-210)acC>acT p.T70T CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.T70T NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 70 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) TCCTAGACACCTGGAACAGAG 0.527000 Immune Deficiency with Hyper-IgM 19 55 0 0 0.001216 0 0 MYADM 91663 broad.mit.edu 37 19 54377065 54377065 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54377065C>T ENST00000391769.2 + 3 562 c.282C>T c.(280-282)ttC>ttT p.F94F MYADM_ENST00000391771.1_Silent_p.F94F|MYADM_ENST00000336967.3_Silent_p.F94F|MYADM_ENST00000391770.4_Silent_p.F94F|MYADM_ENST00000391768.2_Silent_p.F94F NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 94 MARVEL 1. Missing (in Ref. 4; BAC04265). integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) AGGCCCGCTTCCCCCTGTCTT 0.617000 30 58 0 0 0.001512 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26234973 26234973 + Silent SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:26234973A>T ENST00000244534.5 - 1 243 c.189T>A c.(187-189)ctT>ctA p.L63L NM_005320.2 NP_005311.1 P16402 H13_HUMAN histone cluster 1, H1d 63 H15. nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GCGCTTTCTTAAGCGCGGCCA 0.547000 50 245 0 0 0.003610 0 0 CYP2A6 1548 broad.mit.edu 37 19 41350595 41350595 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:41350595T>G ENST00000301141.5 - 8 1264 c.1244A>C c.(1243-1245)cAc>cCc p.H415P CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 415 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) ATTCAGGAAGTGCTGGGGATT 0.547000 32 42 0 0 0.002096 0 0 TCEB3 6924 broad.mit.edu 37 1 24080647 24080647 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:24080647C>T ENST00000418390.2 + 6 1944 c.1673C>T c.(1672-1674)tCc>tTc p.S558F NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 558 Activation domain (By similarity). positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGAATGAATTCCAAGATGCAG 0.448000 24 60 0 0 0.003954 0 0 TRANK1 9881 broad.mit.edu 37 3 36899148 36899148 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:36899148G>A ENST00000429976.2 - 12 2180 c.1933C>T c.(1933-1935)Cca>Tca p.P645S TRANK1_ENST00000428977.2_Missense_Mutation_p.P95S|TRANK1_ENST00000301807.6_Missense_Mutation_p.P95S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 645 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCACCACATGGCACTGACTTG 0.602000 27 79 0 0 0.007291 0 0 LILRB1 10859 broad.mit.edu 37 19 55143505 55143505 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55143505G>A ENST00000396331.1 + 6 835 c.478G>A c.(478-480)Gga>Aga p.G160R LILRB1_ENST00000418536.2_Missense_Mutation_p.G160R|LILRB1_ENST00000396317.1_Missense_Mutation_p.G160R|LILRB1_ENST00000396321.2_Missense_Mutation_p.G160R|LILRB1_ENST00000434867.2_Missense_Mutation_p.G160R|LILRB1_ENST00000324602.7_Missense_Mutation_p.G160R|LILRB1_ENST00000427581.2_Missense_Mutation_p.G196R|LILRB1_ENST00000396332.4_Missense_Mutation_p.G160R|LILRB1_ENST00000448689.1_Missense_Mutation_p.G160R|LILRB1_ENST00000396315.1_Missense_Mutation_p.G160R|LILRB1_ENST00000396327.3_Missense_Mutation_p.G160R NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 160 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GTGTAAGGAAGGAGAAGATGA 0.607000 HNSCC(37;0.09) 27 46 0 0 0.005443 0 0 FLRT2 23768 broad.mit.edu 37 14 86089130 86089130 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:86089130G>A ENST00000330753.4 + 2 2039 c.1272G>A c.(1270-1272)cgG>cgA p.R424R FLRT2_ENST00000554746.1_Silent_p.R424R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 424 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTTCTGAACGGATCCAGCTCT 0.483000 12 22 0 0 0.001368 0 0 FLVCR2 55640 broad.mit.edu 37 14 76107327 76107327 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:76107327G>A ENST00000238667.4 + 7 1621 c.1265G>A c.(1264-1266)gGa>gAa p.G422E FLVCR2_ENST00000539311.1_Missense_Mutation_p.G217E|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.G137E|FLVCR2_ENST00000556241.1_Intron NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 422 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) CTCCCACTGGGATTTGAGTTT 0.502000 30 40 0 0 0.003755 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37436309 37436309 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:37436309G>A ENST00000374660.1 + 9 1398 c.1299G>A c.(1297-1299)gaG>gaA p.E433E ANKRD30A_ENST00000602533.1_Silent_p.E433E|ANKRD30A_ENST00000361713.1_Silent_p.E433E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 489 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTCTCTTTGAGAGTTCTGCAA 0.254000 11 27 0 0 0.002450 0 0 ALOX5 240 broad.mit.edu 37 10 45924071 45924071 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:45924071G>A ENST00000374391.2 + 7 893 c.840G>A c.(838-840)ggG>ggA p.G280G ALOX5_ENST00000542434.1_Silent_p.G280G NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 280 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGCAGCAAGGGAACATTTTCA 0.552000 10 17 0 0 0.002450 0 0 KIAA0556 23247 broad.mit.edu 37 16 27720122 27720122 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:27720122A>C ENST00000261588.4 + 13 1505 c.1486A>C c.(1486-1488)Aca>Cca p.T496P CTD-2049O4.1_ENST00000568831.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 496 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGTGGGTCTCACAGAAGTCGA 0.537000 15 56 0 0 0.004990 0 0 TGFBI 7045 broad.mit.edu 37 5 135389719 135389719 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:135389719C>T ENST00000442011.2 + 9 1375 c.1214C>T c.(1213-1215)tCt>tTt p.S405F TGFBI_ENST00000305126.8_Missense_Mutation_p.S405F NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 405 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AATCATCTCTCTGGAAGTGAG 0.517000 73 88 0 0 0.003610 0 0 CLU 1191 broad.mit.edu 37 8 27455997 27455997 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:27455997C>T ENST00000316403.10 - 8 1725 c.1320G>A c.(1318-1320)caG>caA p.Q440Q CLU_ENST00000546343.1_Silent_p.Q451Q|CLU_ENST00000405140.3_Silent_p.Q440Q|CLU_ENST00000523500.1_Silent_p.Q440Q|CLU_ENST00000560366.1_Silent_p.Q492Q P10909 CLUS_HUMAN clusterin 440 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TGCGGTATTCCTGCAGCGCTT 0.537000 37 73 0 0 0.004878 0 0 CST9L 128821 broad.mit.edu 37 20 23549030 23549030 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:23549030C>T ENST00000376979.3 - 1 356 c.58G>A c.(58-60)Ggc>Agc p.G20S NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 20 extracellular region cysteine-type endopeptidase inhibitor activity p.G20C(1) breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) ATCTGGGAGCCTAAGAGAAGC 0.582000 11 30 0 0 0.001855 0 0 EDEM3 80267 broad.mit.edu 37 1 184702001 184702001 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:184702001G>A ENST00000318130.8 - 6 848 c.582C>T c.(580-582)ttC>ttT p.F194F EDEM3_ENST00000367512.3_Silent_p.F151F NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 194 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGGTAGTGTTGAAAGCCGGTA 0.353000 20 62 0 0 0.002299 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115526193 115526193 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:115526193G>A ENST00000361048.1 + 3 379 c.52G>A c.(52-54)Gaa>Aaa p.E18K PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E12K|PLEKHS1_ENST00000369312.4_5'UTR NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 ATTTTCTTATGAAAATGAAGT 0.348000 16 40 0 0 0.004007 0 0 PNKD 25953 broad.mit.edu 37 2 219204778 219204778 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:219204778C>T ENST00000273077.4 + 4 430 c.379C>T c.(379-381)Ctc>Ttc p.L127F PNKD_ENST00000436005.2_Missense_Mutation_p.L67F|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.L103F NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 127 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATCCCTGTCCTCTCGGACAA 0.642000 23 20 0 0 0.002780 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764947 77764947 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:77764947G>A ENST00000521891.2 + 10 6238 c.5790G>A c.(5788-5790)aaG>aaA p.K1930K ZFHX4_ENST00000050961.6_Silent_p.K1885K|ZFHX4_ENST00000455469.2_Silent_p.K1885K|ZFHX4_ENST00000518282.1_Silent_p.K1904K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1885 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACAGGCAGAAGGTACAGAAGA 0.413000 HNSCC(33;0.089) 17 78 0 0 0.007413 0 0 PANK3 79646 broad.mit.edu 37 5 167995999 167995999 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:167995999G>A ENST00000239231.6 - 2 349 c.33C>T c.(31-33)ttC>ttT p.F11F NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 11 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) CAAACCATGGGAAAGCTATGG 0.328000 10 51 0 0 0.006214 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263218 140263218 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140263218C>T ENST00000289272.2 + 1 1365 c.1365C>T c.(1363-1365)ttC>ttT p.F455F PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.F455F|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCGGCGTTCGCGCAGCCCG 0.682000 19 91 0 0 0.001216 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632513 111632513 + Silent SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:111632513T>G ENST00000431670.2 + 3 2094 c.1683T>G c.(1681-1683)gcT>gcG p.A561A PHLDB2_ENST00000412622.1_Silent_p.A561A|PHLDB2_ENST00000481953.1_Silent_p.A561A|PHLDB2_ENST00000477695.1_Silent_p.A561A|PHLDB2_ENST00000393925.3_Silent_p.A561A|PHLDB2_ENST00000495180.1_Silent_p.A147A|PHLDB2_ENST00000393923.3_Silent_p.A588A NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 561 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TTCCGAAAGCTTCCAGCGAGT 0.507000 57 167 0 0 0.003610 0 0 NLRP9 338321 broad.mit.edu 37 19 56226485 56226485 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:56226485C>T ENST00000332836.2 - 6 2464 c.2437G>A c.(2437-2439)Gat>Aat p.D813N NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 813 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACTCCATTATCTTCCAGGGCA 0.547000 30 64 0 0 0.007291 0 0 VWCE 220001 broad.mit.edu 37 11 61042021 61042021 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:61042021C>T ENST00000335613.5 - 12 1917 c.1531G>A c.(1531-1533)Ggg>Agg p.G511R NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 511 VWFC 3. extracellular region calcium ion binding p.G511W(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AACACAGCCCCGTCTGCGTAC 0.572000 14 13 0 0 0.004990 0 0 MAD1L1 8379 broad.mit.edu 37 7 2108866 2108866 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2108866G>A ENST00000406869.1 - 12 1738 c.1181C>T c.(1180-1182)gCc>gTc p.A394V MAD1L1_ENST00000399654.2_Missense_Mutation_p.A394V|MAD1L1_ENST00000265854.7_Missense_Mutation_p.A394V|MAD1L1_ENST00000402746.1_Missense_Mutation_p.A302V Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 394 Necessary for interaction with NEK2. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GAGCCTCCGGGCCAGCGCCTC 0.642000 23 157 0 0 0.001786 0 0 CDK11B 984 broad.mit.edu 37 1 1575742 1575742 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:1575742G>A ENST00000407249.3 - 12 1155 c.1156C>T c.(1156-1158)Ccg>Tcg p.P386S CDK11B_ENST00000341832.6_Missense_Mutation_p.P339S|CDK11B_ENST00000340677.5_Missense_Mutation_p.P373S|CDK11B_ENST00000317673.7_Missense_Mutation_p.P384S P21127 CD11B_HUMAN cyclin-dependent kinase 11B 396 Glu-rich. 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 CTGCTCTGCGGCGTTCCCTCA 0.597000 10 34 0 0 0.000673 0 0 ACTL7A 10881 broad.mit.edu 37 9 111625832 111625832 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:111625832G>A ENST00000333999.3 + 1 1230 c.1230G>A c.(1228-1230)caG>caA p.Q410Q NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 410 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCTCACTTCAGGGTTTCCAAC 0.562000 50 6 0 0 0.003610 0 0 ZNF543 125919 broad.mit.edu 37 19 57839423 57839423 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57839423C>T ENST00000321545.4 + 4 938 c.593C>T c.(592-594)tCc>tTc p.S198F NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAGAAAAATTCCTATAAATGT 0.403000 23 67 0 0 0.002299 0 0 COL11A1 1301 broad.mit.edu 37 1 103347311 103347311 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:103347311G>A ENST00000358392.2 - 65 5335 c.5018C>T c.(5017-5019)tCa>tTa p.S1673L COL11A1_ENST00000370096.3_Missense_Mutation_p.S1661L|COL11A1_ENST00000353414.4_Missense_Mutation_p.S1622L|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1545L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1661 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGCCATGATGAAATTCTTAC 0.318000 4 14 0 0 0.001168 0 0 FILIP1 27145 broad.mit.edu 37 6 76022585 76022585 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:76022585C>T ENST00000393004.2 - 5 3184 c.2963G>A c.(2962-2964)aGa>aAa p.R988K FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R988K|FILIP1_ENST00000370020.1_Missense_Mutation_p.R889K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 988 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 AGTCTTCTCTCTGGAAAATGT 0.463000 26 38 0 0 0.004656 0 0 GIGYF2 26058 broad.mit.edu 37 2 233721532 233721532 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:233721532C>T ENST00000373566.3 + 30 4125 c.3928C>T c.(3928-3930)Ctc>Ttc p.L1310F GIGYF2_ENST00000409196.3_Missense_Mutation_p.L1282F|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L1309F|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L1288F|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L1288F|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L1310F Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1288 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) ATCGGAGCGACTCAACATGGG 0.527000 21 34 0 0 0.003330 0 0 ENTPD1 953 broad.mit.edu 37 10 97602187 97602187 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:97602187C>T ENST00000371207.3 + 4 448 c.385C>T c.(385-387)Cca>Tca p.P129S ENTPD1_ENST00000453258.2_Missense_Mutation_p.P124S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000543964.1_Missense_Mutation_p.P9S|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000371205.4_Missense_Mutation_p.P117S NM_001164178.1 NP_001157650.1 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 117 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) GGAAGTGATTCCAAGGTCCCA 0.473000 29 48 0 0 0.001786 0 0 CRB1 23418 broad.mit.edu 37 1 197403878 197403878 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:197403878T>C ENST00000367397.1 + 5 1886 c.1028T>C c.(1027-1029)tTa>tCa p.L343S CRB1_ENST00000544212.1_Missense_Mutation_p.L443S|CRB1_ENST00000535699.1_Missense_Mutation_p.L938S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.L850S|CRB1_ENST00000367400.3_Missense_Mutation_p.L962S P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 962 EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GGTCAAATATTATTCAGAAGC 0.308000 38 83 0 0 0.001951 0 0 TREML1 340205 broad.mit.edu 37 6 41121741 41121741 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41121741T>G ENST00000373127.4 - 2 179 c.131A>C c.(130-132)gAt>gCt p.D44A TREML1_ENST00000437044.2_Intron|TREML1_ENST00000426005.2_Missense_Mutation_p.D44A NM_001271807.1 NP_001258736.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 44 Ig-like V-type. calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCTTTGACATCCTGGAGCCT 0.632000 11 71 0 0 0.000673 0 0 FFAR4 338557 broad.mit.edu 37 10 95347351 95347351 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:95347351G>A ENST00000371483.4 + 4 1175 c.1119G>A c.(1117-1119)tcG>tcA p.S373S FFAR4_ENST00000371481.4_Silent_p.S357S|FFAR4_ENST00000604414.1_Intron NM_181745.3 NP_859529.2 free fatty acid receptor 4 ATGACTTGTCGATTATTTCTG 0.418000 33 24 0 0 0.003755 0 0 MKL2 57496 broad.mit.edu 37 16 14345761 14345761 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:14345761C>T ENST00000571589.1 + 14 2618 c.2446C>T c.(2446-2448)Cag>Tag p.Q816* MKL2_ENST00000318282.5_Nonsense_Mutation_p.Q766*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.Q805*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.Q766* NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 805 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTTCCATATCAGAGACATCC 0.403000 28 41 0 0 0.002096 0 0 SH3GL2 6456 broad.mit.edu 37 9 17786423 17786423 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:17786423C>T ENST00000380607.4 + 4 352 c.232C>T c.(232-234)Cgt>Tgt p.R78C SH3GL2_ENST00000537391.1_Missense_Mutation_p.R31C NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 78 BAR.|Binds and tubulates liposomes (By similarity).|Required for dimerization upon membrane association (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GTCAAAAATCCGTGGCCAGGA 0.507000 33 40 0 0 0.004289 0 0 INSR 3643 broad.mit.edu 37 19 7120643 7120643 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:7120643G>A ENST00000341500.5 - 19 3650 c.3611C>T c.(3610-3612)tCt>tTt p.S1204F INSR_ENST00000302850.5_Missense_Mutation_p.S1216F NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1216 Protein kinase. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATGTCAGAAGAAGTGGTGAA 0.562000 64 102 0 0 0.003610 0 0 DUSP26 78986 broad.mit.edu 37 8 33454829 33454829 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:33454829G>A ENST00000256261.4 - 2 722 c.205C>T c.(205-207)Ctc>Ttc p.L69F DUSP26_ENST00000523956.1_Missense_Mutation_p.L69F NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 69 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CCGAGATAGAGGCCTGGCCAG 0.552000 9 9 0 0 0.006214 0 0 PRDM14 63978 broad.mit.edu 37 8 70980503 70980503 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:70980503C>T ENST00000276594.2 - 4 1075 c.874G>A c.(874-876)Gaa>Aaa p.E292K NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 292 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GTCTTCACTTCACTGGCATTG 0.493000 19 120 0 0 0.001216 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147010991 147010991 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:147010991C>T ENST00000265272.5 - 14 2327 c.1860G>A c.(1858-1860)atG>atA p.M620I JAKMIP2_ENST00000333010.6_Missense_Mutation_p.M578I|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.M599I NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 620 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTTCTTTCATACAGTAGA 0.383000 23 29 0 0 0.005443 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69101868 69101868 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:69101868C>T ENST00000332644.5 - 3 402 c.e3+1 NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CTCTGATTTACCTTAGTCTCA 0.284000 7 12 0 0 0.001984 0 0 TOP3B 8940 broad.mit.edu 37 22 22312879 22312879 + Nonsense_Mutation SNP G G A rs142196057 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:22312879G>A ENST00000398793.2 - 17 2526 c.2092C>T c.(2092-2094)Cga>Tga p.R698* TOP3B_ENST00000357179.5_Nonsense_Mutation_p.R698* NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 698 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TTCATGTCTCGGAAGGGTGGG 0.602000 25 144 0 0 0.004656 0 0 CCNT2 905 broad.mit.edu 37 2 135676478 135676478 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:135676478G>A ENST00000264157.5 + 1 84 c.54G>A c.(52-54)ctG>ctA p.L18L CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Silent_p.L18L NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 18 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) GGGAACAGCTGGAGAACACGC 0.647000 5 14 0 0 0.000602 0 0 KMT2E 55904 broad.mit.edu 37 7 104752452 104752452 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:104752452C>T ENST00000334877.4 + 26 4657 c.4123C>T c.(4123-4125)Cct>Tct p.P1375S SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.P1417S|KMT2E_ENST00000334914.7_Missense_Mutation_p.P472S|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1417S lysine (K)-specific methyltransferase 2E GAATCATCCTCCTCAGACACA 0.423000 27 25 0 0 0.005443 0 0 BRSK1 84446 broad.mit.edu 37 19 55816891 55816891 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55816891C>T ENST00000309383.1 + 16 2104 c.1827C>T c.(1825-1827)ttC>ttT p.F609F BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Silent_p.F625F|BRSK1_ENST00000326848.7_Silent_p.F304F NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 609 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AACAAATATTCCTCGTGCTAA 0.572000 56 128 0 0 0.003610 0 0 GSX2 170825 broad.mit.edu 37 4 54967870 54967870 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:54967870G>A ENST00000326902.2 + 2 1010 c.696G>A c.(694-696)agG>agA p.R232R GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 232 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) GACTCCGGAGGATTGAAATCG 0.532000 29 260 0 0 0.001512 0 0 UGT1A4 54657 broad.mit.edu 37 2 234628284 234628284 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:234628284T>C ENST00000373409.3 + 1 861 c.818T>C c.(817-819)aTg>aCg p.M273T UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) ATGCCCAACATGGTCTTCATT 0.512000 10 93 0 0 0.001855 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151206843 151206843 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:151206843G>A ENST00000367321.3 + 6 890 c.616G>A c.(616-618)Gct>Act p.A206T MTHFD1L_ENST00000367307.4_Missense_Mutation_p.A206T NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 206 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TGTTGCCAAAGCTGTAATTGA 0.368000 29 42 0 0 0.006320 0 0 ACTR5 79913 broad.mit.edu 37 20 37400291 37400291 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:37400291C>T ENST00000243903.4 + 9 1693 c.1656C>T c.(1654-1656)atC>atT p.I552I NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 552 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) AAGTTTGGATCACCAGGAAAG 0.527000 11 84 0 0 0.000673 0 0 CNOT6L 246175 broad.mit.edu 37 4 78669520 78669520 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:78669520G>A ENST00000504123.1 - 6 639 c.509C>T c.(508-510)cCt>cTt p.P170L CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.P170L Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 170 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 TGGCCTCGGAGGAAGCTGCTC 0.313000 32 48 0 0 0.005524 0 0 NRM 11270 broad.mit.edu 37 6 30658016 30658016 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:30658016G>A ENST00000259953.4 - 3 489 c.138C>T c.(136-138)gcC>gcT p.A46A NRM_ENST00000376421.5_Silent_p.A46A|NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Silent_p.A46A NM_001270707.1 NP_001257636.1 Q8IXM6 NRM_HUMAN nurim (nuclear envelope membrane protein) 46 integral to membrane|nuclear inner membrane large_intestine(1)|lung(2) 3 ATCCCTGGCGGGCATCTACAG 0.582000 5 43 0 0 0.000602 0 0 PRKACG 5568 broad.mit.edu 37 9 71628130 71628130 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:71628130C>T ENST00000377276.2 - 1 909 c.879G>A c.(877-879)aaG>aaA p.K293K NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 293 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ACTTGTGGTTCTTGATGTCGC 0.572000 116 11 0 0 0.003610 0 0 HEPHL1 341208 broad.mit.edu 37 11 93797567 93797567 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:93797567G>A ENST00000315765.9 + 4 707 c.699G>A c.(697-699)gtG>gtA p.V233V NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 233 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTACTCTTGTGGATGAGAATC 0.393000 21 18 0 0 0.001882 0 0 TNN 63923 broad.mit.edu 37 1 175046794 175046794 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:175046794G>A ENST00000239462.4 + 2 353 c.240G>A c.(238-240)gaG>gaA p.E80E NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 80 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGGCCAGGGAGGAACAGAACA 0.607000 34 15 0 0 0.006999 0 0 TPRN 286262 broad.mit.edu 37 9 140093724 140093724 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:140093724C>T ENST00000409012.4 - 1 1526 c.1440G>A c.(1438-1440)agG>agA p.R480R TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.R419R NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 480 sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 GGTGCAGAGGCCTGGCAGGGT 0.652000 19 29 0 0 0.001523 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212591 149212591 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:149212591C>T ENST00000309241.5 + 5 987 c.955C>T c.(955-957)Ccc>Tcc p.P319S PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P255S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P280S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P319S NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 319 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTGCAGCAACCCCTCCCAGCA 0.627000 22 42 0 0 0.003330 0 0 DEFB136 613210 broad.mit.edu 37 8 11831451 11831451 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:11831451G>A ENST00000382209.2 - 2 231 c.232C>T c.(232-234)Cat>Tat p.H78Y NM_001033018.2 NP_001028190.2 Q30KP8 DB136_HUMAN defensin, beta 136 78 defense response to bacterium extracellular region endometrium(2)|large_intestine(1)|lung(4) 7 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) TCCTTTTAATGAACCCATGGA 0.453000 49 165 0 0 0.003610 0 0 TTLL2 83887 broad.mit.edu 37 6 167753716 167753716 + Nonsense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:167753716A>T ENST00000239587.5 + 3 416 c.328A>T c.(328-330)Aag>Tag p.K110* NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 110 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGGGTGGAATAAGTTTGATAA 0.552000 14 10 0 0 0.001855 0 0 CDH13 1012 broad.mit.edu 37 16 83711929 83711929 + Silent SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:83711929T>G ENST00000566620.1 + 10 1691 c.1401T>G c.(1399-1401)acT>acG p.T467T CDH13_ENST00000428848.3_Silent_p.T428T|CDH13_ENST00000268613.10_Silent_p.T514T NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 467 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TCCACATCACTGTCCTGGATG 0.582000 18 54 0 0 0.001216 0 0 ATRIP 84126 broad.mit.edu 37 3 48501578 48501578 + Silent SNP G G A rs139858543 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:48501578G>A ENST00000412052.1 + 8 1308 c.846G>A c.(844-846)ctG>ctA p.L282L ATRIP_ENST00000320211.3_Silent_p.L375L|ATRIP_ENST00000346691.4_Silent_p.L375L|ATRIP_ENST00000357105.6_Silent_p.L248L NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 375 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTCAGCCCTGAGAGAAGCAC 0.512000 Other conserved DNA damage response genes 34 61 0 0 0.003271 0 0 PHLPP1 23239 broad.mit.edu 37 18 60384439 60384439 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:60384439T>G ENST00000262719.5 + 1 1757 c.1523T>G c.(1522-1524)gTg>gGg p.V508G PHLPP1_ENST00000400316.4_5'UTR O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 508 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CTGTGGAGGGTGCAGGAGGAA 0.582000 11 21 0 0 0.000978 0 0 SLC22A11 55867 broad.mit.edu 37 11 64337277 64337277 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:64337277C>T ENST00000301891.4 + 9 1910 c.1536C>T c.(1534-1536)ctC>ctT p.L512L SLC22A11_ENST00000377585.3_Silent_p.L404L|SLC22A11_ENST00000377581.3_Intron NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 512 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) TGTTCTTCCTCCCGGAGACCC 0.622000 31 7 0 0 0.002445 0 0 HSPD1 3329 broad.mit.edu 37 2 198353733 198353733 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:198353733A>C ENST00000388968.3 - 9 1475 c.1208T>G c.(1207-1209)gTg>gGg p.V403G HSPD1_ENST00000345042.2_Missense_Mutation_p.V403G NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 403 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) TACCTTCAGCACAGCCACTCC 0.363000 20 41 0 0 0.002299 0 0 NUP210L 91181 broad.mit.edu 37 1 154018578 154018578 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:154018578C>T ENST00000368559.3 - 27 3734 c.3663G>A c.(3661-3663)agG>agA p.R1221R NUP210L_ENST00000271854.3_Silent_p.R1221R|NUP210L_ENST00000368553.1_Silent_p.R154R NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1221 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) CCAATACATCCCTTTTGCTCA 0.398000 26 32 0 0 0.001512 0 0 DSG3 1830 broad.mit.edu 37 18 29046601 29046601 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:29046601C>T ENST00000257189.4 + 11 1603 c.1520C>T c.(1519-1521)cCt>cTt p.P507L NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 507 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTTCTTCACCTTCCGTGGTT 0.443000 34 52 0 0 0.002445 0 0 OR5F1 338674 broad.mit.edu 37 11 55761646 55761646 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:55761646C>T ENST00000278409.1 - 1 455 c.456G>A c.(454-456)ggG>ggA p.G152G NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) AGTTCAGCAACCCTGCAGCAA 0.507000 23 77 0 0 0.002780 0 0 C1orf173 127254 broad.mit.edu 37 1 75036964 75036964 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:75036964C>T ENST00000326665.5 - 14 4648 c.4430G>A c.(4429-4431)gGa>gAa p.G1477E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1477 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCGTGATAATCCTAATCGGAA 0.552000 39 46 0 0 0.006999 0 0 MMP15 4324 broad.mit.edu 37 16 58078993 58078993 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:58078993C>T ENST00000219271.3 + 10 2438 c.1653C>T c.(1651-1653)tcC>tcT p.S551S NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 551 Hemopexin-like 4. protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 ACCCCAAGTCCATCCTGCGGG 0.657000 5 14 0 0 0.000602 0 0 INF2 64423 broad.mit.edu 37 14 105174858 105174858 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:105174858C>T ENST00000392634.4 + 9 1933 c.1821C>T c.(1819-1821)tcC>tcT p.S607S INF2_ENST00000330634.7_Silent_p.S607S NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 607 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GACTATTCTCCTTCCCTGCAG 0.687000 OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 13 0 0 0.003163 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463561 241463561 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:241463561G>A ENST00000391987.1 - 8 1672 c.1306C>T c.(1306-1308)Ccg>Tcg p.P436S ANKMY1_ENST00000405002.1_Missense_Mutation_p.P206S|ANKMY1_ENST00000536462.1_Missense_Mutation_p.P248S|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Missense_Mutation_p.P295S|ANKMY1_ENST00000373318.2_Missense_Mutation_p.P295S|ANKMY1_ENST00000361678.4_Missense_Mutation_p.P295S|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P525S|ANKMY1_ENST00000373320.4_Missense_Mutation_p.P206S|ANKMY1_ENST00000403283.1_Missense_Mutation_p.P374S|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P436S Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 436 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TTCACCAACGGGGAGTCCCCC 0.627000 12 9 0 0 0.001368 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882638 228882638 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:228882638A>C ENST00000392056.3 - 7 2978 c.2932T>G c.(2932-2934)Tcc>Gcc p.S978A SPHKAP_ENST00000344657.5_Missense_Mutation_p.S978A NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 978 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTCTTCAAGGATCGGCAGGGT 0.547000 32 15 0 0 0.002445 0 0 CD84 8832 broad.mit.edu 37 1 160523164 160523164 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:160523164C>T ENST00000311224.4 - 4 830 c.764G>A c.(763-765)aGg>aAg p.R255K CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Intron|CD84_ENST00000368048.3_Intron NM_001184879.1 NP_001171808.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 255 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGGAAAATCCTACCTTGTCT 0.463000 15 50 0 0 0.003163 0 0 RELN 5649 broad.mit.edu 37 7 103236980 103236980 + Silent SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:103236980G>C ENST00000428762.1 - 25 3621 c.3462C>G c.(3460-3462)ctC>ctG p.L1154L RELN_ENST00000424685.2_Silent_p.L1154L|RELN_ENST00000343529.5_Silent_p.L1154L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1154 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) TGTACTGAAGGAGGACGCCCT 0.522000 56 63 0 0 0.003610 0 0 LAMC2 3918 broad.mit.edu 37 1 183196822 183196822 + Silent SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:183196822C>G ENST00000264144.4 + 10 1523 c.1458C>G c.(1456-1458)ccC>ccG p.P486P LAMC2_ENST00000493293.1_Silent_p.P486P NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 486 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly heparin binding p.P486P(1) breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 ACTGCCCTCCCGGGGTCACCG 0.587000 8 23 0 0 0.003080 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766314 77766314 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:77766314G>A ENST00000521891.2 + 10 7605 c.7157G>A c.(7156-7158)gGg>gAg p.G2386E ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2341E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2341E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2360E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2341 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCTGGCTCTGGGACCAGCACC 0.522000 HNSCC(33;0.089) 11 74 0 0 0.000673 0 0 ZNF91 7644 broad.mit.edu 37 19 23543137 23543137 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:23543137A>C ENST00000300619.7 - 4 2849 c.2644T>G c.(2644-2646)Tcc>Gcc p.S882A ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S850A NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 882 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TCACTCTTGGAAGGTTTCTCT 0.358000 11 16 0 0 0.000978 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834710 125834710 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:125834710C>T ENST00000299308.3 + 2 773 c.765C>T c.(763-765)gcC>gcT p.A255A NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 255 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CGTTTCCAGCCCGAGAGAGGA 0.577000 31 85 0 0 0.002096 0 0 DENND3 22898 broad.mit.edu 37 8 142146754 142146754 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:142146754C>T ENST00000519811.1 + 2 319 c.249C>T c.(247-249)tcC>tcT p.S83S DENND3_ENST00000424248.1_Silent_p.S3S|DENND3_ENST00000518347.1_Silent_p.S83S|DENND3_ENST00000262585.2_Silent_p.S3S A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 3 UDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGATGCGCTCCTTGAGAAAGA 0.612000 4 33 0 0 0.000248 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975481 31975481 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31975481G>A ENST00000342991.6 + 0 1404 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GCTAGACCACGAACTGGGCCC 0.672000 46 385 0 0 0.003610 0 0 ABCG4 64137 broad.mit.edu 37 11 119027719 119027719 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:119027719C>T ENST00000307417.3 + 9 1427 c.1063C>T c.(1063-1065)Cct>Tct p.P355S ABCG4_ENST00000531739.1_Missense_Mutation_p.P355S|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000449422.2_Missense_Mutation_p.P355S NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 355 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCTCCTTGTCCTCCGGTGAG 0.617000 51 6 0 0 0.003610 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122541 153122541 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:153122541G>A ENST00000368748.4 - 2 84 c.46C>T c.(46-48)Cct>Tct p.P16S NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 16 keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGCACACAGGAGGTGGCTGG 0.572000 33 105 0 0 0.004878 0 0 MATN2 4147 broad.mit.edu 37 8 99045812 99045812 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:99045812G>A ENST00000254898.5 + 18 2971 c.2740G>A c.(2740-2742)Gat>Aat p.D914N MATN2_ENST00000524308.1_Missense_Mutation_p.D873N|MATN2_ENST00000522025.2_Missense_Mutation_p.D630N|MATN2_ENST00000520016.1_Missense_Mutation_p.D914N|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.D895N NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 914 proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AGAAAAACACGATCAATGCAA 0.388000 7 28 0 0 0.004482 0 0 COL4A4 1286 broad.mit.edu 37 2 227922200 227922200 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:227922200C>T ENST00000396625.3 - 29 2707 c.2500G>A c.(2500-2502)Ggg>Agg p.G834R COL4A4_ENST00000329662.7_Missense_Mutation_p.G834R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 834 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTGGTATCCCTGGAGCACCT 0.537000 7 4 0 0 0.003080 0 0 PCLO 27445 broad.mit.edu 37 7 82584366 82584366 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:82584366G>A ENST00000423517.2 - 5 6240 c.5903C>T c.(5902-5904)tCg>tTg p.S1968L PCLO_ENST00000333891.8_Missense_Mutation_p.S1968L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1899 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCCATCTACCGATCCATTGTA 0.363000 47 64 0 0 0.003610 0 0 SCN9A 6335 broad.mit.edu 37 2 167162316 167162316 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:167162316G>A ENST00000375387.4 - 5 925 c.585C>T c.(583-585)gtC>gtT p.V195V SCN9A_ENST00000409435.1_Silent_p.V194V|SCN9A_ENST00000409672.1_Silent_p.V194V|SCN9A_ENST00000303354.6_Silent_p.V195V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 194 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AAACAATGACGACAAAATCCA 0.398000 23 32 0 0 0.003330 0 0 TJAP1 93643 broad.mit.edu 37 6 43473457 43473457 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43473457C>T ENST00000372444.2 + 11 1941 c.1508C>T c.(1507-1509)tCc>tTc p.S503F TJAP1_ENST00000372445.5_Missense_Mutation_p.S513F|TJAP1_ENST00000438588.2_Missense_Mutation_p.S513F|TJAP1_ENST00000372449.1_Missense_Mutation_p.S513F|TJAP1_ENST00000436109.2_Missense_Mutation_p.S503F|TJAP1_ENST00000372452.1_Missense_Mutation_p.S503F|TJAP1_ENST00000259751.1_Missense_Mutation_p.S503F|TJAP1_ENST00000483640.1_3'UTR NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 513 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCAGGCACTTCCCACACCGAG 0.662000 5 34 0 0 0.001168 0 0 DNAH10 196385 broad.mit.edu 37 12 124284800 124284800 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:124284800G>A ENST00000409039.3 + 14 1998 c.1973G>A c.(1972-1974)aGg>aAg p.R658K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 658 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACTTTAGAAAGGGGAGCTGTT 0.478000 10 39 0 0 0.001855 0 0 VWCE 220001 broad.mit.edu 37 11 61048115 61048115 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:61048115C>T ENST00000335613.5 - 9 1691 c.1305G>A c.(1303-1305)ggG>ggA p.G435G NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 435 VWFC 1. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ATGGGCAGCACCCACCATCTC 0.552000 12 19 0 0 0.004007 0 0 GRM1 2911 broad.mit.edu 37 6 146720176 146720176 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:146720176C>T ENST00000392299.2 + 8 2471 c.2001C>T c.(1999-2001)tcC>tcT p.S667S GRM1_ENST00000507907.1_Silent_p.S667S|GRM1_ENST00000282753.1_Silent_p.S667S|GRM1_ENST00000492807.2_Silent_p.S667S|GRM1_ENST00000355289.4_Silent_p.S667S|GRM1_ENST00000361719.2_Silent_p.S667S Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 667 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTGGCCTCTCCTCTGCGATGT 0.527000 88 127 0 0 0.003610 0 0 FKBP15 23307 broad.mit.edu 37 9 115932877 115932877 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:115932877G>A ENST00000238256.3 - 25 2808 c.2691C>T c.(2689-2691)tcC>tcT p.S897S NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 897 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTCTCCGTAAGGACTGGAACA 0.443000 39 69 0 0 0.002222 0 0 CELSR3 1951 broad.mit.edu 37 3 48682556 48682556 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:48682556G>A ENST00000544264.1 - 26 8179 c.7899C>T c.(7897-7899)taC>taT p.Y2633Y CELSR3_ENST00000164024.4_Silent_p.Y2628Y Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2628 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTGCATGCGGTAGAGGTGCA 0.662000 17 25 0 0 0.006122 0 0 ANKRD20A19P 400110 broad.mit.edu 37 13 24519992 24519992 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:24519992G>A ENST00000442969.1 - 0 929 GCTGTTCCGCGTCCCGGATTC 0.677000 3 3 0 0 0.004672 0 0 OR8A1 390275 broad.mit.edu 37 11 124440146 124440146 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:124440146G>A ENST00000284287.3 + 1 254 c.182G>A c.(181-183)gGc>gAc p.G61D NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 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;0.0214) GGGAACCTGGGCATGATCACT 0.502000 20 45 0 0 0.007413 0 0 WDR75 84128 broad.mit.edu 37 2 190322059 190322059 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:190322059G>A ENST00000314761.4 + 6 581 c.521G>A c.(520-522)cGg>cAg p.R174Q NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 174 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) GCTGCAGTACGGGAATTTTAC 0.254000 13 15 0 0 0.001216 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083655 107083655 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:107083655C>T ENST00000455737.1 - 0 70 GGAGCTGCCACCAGGAGAAGG 0.517000 11 18 0 0 0.000978 0 0 NMT1 4836 broad.mit.edu 37 17 43171163 43171163 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:43171163C>T ENST00000592782.1 + 5 627 c.496C>T c.(496-498)Cgt>Tgt p.R166C NMT1_ENST00000258960.2_Missense_Mutation_p.R166C|NMT1_ENST00000590114.1_3'UTR P30419 NMT1_HUMAN N-myristoyltransferase 1 166 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) CCTGGGCGATCGTGGTGTGGT 0.602000 13 28 0 0 0.004007 0 0 DOPEY1 23033 broad.mit.edu 37 6 83810448 83810448 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:83810448C>T ENST00000349129.2 + 4 423 c.163C>T c.(163-165)Caa>Taa p.Q55* DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q55*|DOPEY1_ENST00000536812.1_Nonsense_Mutation_p.Q55*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q55* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 55 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TGCAAAGTACCAAGTAGTACC 0.363000 46 71 0 0 0.003214 0 0 MIER2 54531 broad.mit.edu 37 19 312226 312226 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:312226A>T ENST00000264819.4 - 9 864 c.854T>A c.(853-855)cTg>cAg p.L285Q NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 285 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) CAGCCTTCGCAGGGCCTCCTC 0.632000 4 14 0 0 0.001168 0 0 BSN 8927 broad.mit.edu 37 3 49701892 49701892 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:49701892G>A ENST00000296452.4 + 9 11759 c.11645G>A c.(11644-11646)gGg>gAg p.G3882E NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3882 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGAACCCCAGGGGCTCCCGCC 0.622000 30 74 0 0 0.001786 0 0 SFRP1 6422 broad.mit.edu 37 8 41164341 41164341 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:41164341C>T ENST00000379845.3 - 1 168 c.36G>A c.(34-36)cgG>cgA p.R12R SFRP1_ENST00000220772.3_Intron Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 0 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CAAAAGGTGTCCGGAAGACAG 0.597000 5 15 0 0 0.000602 0 0 ASH1L 55870 broad.mit.edu 37 1 155450033 155450033 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:155450033G>A ENST00000368346.3 - 3 3267 c.2628C>T c.(2626-2628)tcC>tcT p.S876S ASH1L_ENST00000392403.3_Silent_p.S876S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 876 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTTGTTTGAAGGAAGGGATTT 0.418000 139 53 0 0 0.003610 0 0 SPRYD3 84926 broad.mit.edu 37 12 53468952 53468952 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:53468952G>A ENST00000301463.4 - 4 384 c.298C>T c.(298-300)Cct>Tct p.P100S SPRYD3_ENST00000547837.1_Missense_Mutation_p.P137S NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 100 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 TAGTACTGAGGGACCAGCCCC 0.582000 34 96 0 0 0.003271 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905757 164905757 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:164905757G>A ENST00000475390.1 - 2 3305 c.2862C>T c.(2860-2862)ctC>ctT p.L954L SLITRK3_ENST00000241274.3_Silent_p.L954L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 954 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCCTTAACTCGAGGTAATCAC 0.448000 HNSCC(40;0.11) 51 140 0 0 0.003610 0 0 GABPB2 126626 broad.mit.edu 37 1 151070367 151070367 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:151070367G>A ENST00000368918.3 + 5 842 c.511G>A c.(511-513)Gcc>Acc p.A171T GABPB2_ENST00000368916.1_Missense_Mutation_p.A171T|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368917.1_Missense_Mutation_p.A171T NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 171 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) TCCAGAGAGAGCCAACCCTGT 0.433000 29 42 0 0 0.002096 0 0 CKAP5 9793 broad.mit.edu 37 11 46784543 46784543 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:46784543G>A ENST00000529230.1 - 30 3920 c.3874C>T c.(3874-3876)Ccc>Tcc p.P1292S CKAP5_ENST00000354558.3_Missense_Mutation_p.P1292S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1292S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P1292S Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 ACAAGATAGGGGATGAAGGAA 0.403000 18 34 0 0 0.001216 0 0 MMP24 10893 broad.mit.edu 37 20 33842507 33842507 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:33842507C>T ENST00000246186.6 + 4 852 c.767C>T c.(766-768)aCc>aTc p.T256I MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 256 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGAGGAGACACCCACTTTGAC 0.562000 36 123 0 0 0.005524 0 0 PDE9A 5152 broad.mit.edu 37 21 44174108 44174108 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:44174108C>T ENST00000291539.6 + 10 804 c.744C>T c.(742-744)ctC>ctT p.L248L PDE9A_ENST00000349112.3_Silent_p.L120L|PDE9A_ENST00000335440.6_Silent_p.L146L|PDE9A_ENST00000380328.2_Silent_p.L195L|PDE9A_ENST00000335512.4_Silent_p.L188L|PDE9A_ENST00000328862.6_Silent_p.L222L|PDE9A_ENST00000398229.3_Silent_p.L114L|PDE9A_ENST00000398232.3_Silent_p.L181L|PDE9A_ENST00000398227.3_Silent_p.L88L|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Silent_p.L207L|PDE9A_ENST00000539837.1_Silent_p.L120L|PDE9A_ENST00000398236.3_Silent_p.L162L|PDE9A_ENST00000398234.3_Silent_p.L147L|PDE9A_ENST00000398224.3_Silent_p.L121L NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 248 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 AGTACCTGCTCTCTCCAGAGA 0.577000 6 13 0 0 0.003080 0 0 TTI1 9675 broad.mit.edu 37 20 36640943 36640943 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:36640943G>A ENST00000373448.2 - 3 1514 c.1276C>T c.(1276-1278)Cag>Tag p.Q426* TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Nonsense_Mutation_p.Q426*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.Q426* NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 426 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GAAAGCCGCTGGAGATGGGCC 0.458000 16 75 0 0 0.004990 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492893 21492893 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:21492893G>A ENST00000377142.4 - 2 846 c.490C>T c.(490-492)Ctc>Ttc p.L164F NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 164 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 AGGCGGATGAGGCTGGCCAGG 0.657000 16 41 0 0 0.004990 0 0 ENPP7 339221 broad.mit.edu 37 17 77705076 77705076 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:77705076C>T ENST00000328313.5 + 1 396 c.175C>T c.(175-177)Cga>Tga p.R59* NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 59 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity p.R59*(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGCCATGGCCCGAGACGGGGT 0.632000 17 27 0 0 0.004990 0 0 ZNF555 148254 broad.mit.edu 37 19 2853905 2853905 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:2853905G>A ENST00000334241.4 + 4 1980 c.1842G>A c.(1840-1842)caG>caA p.Q614Q ZNF555_ENST00000591539.1_Silent_p.Q613Q|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 614 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) AGTCACACCAGGAGAGAGATC 0.393000 29 24 0 0 0.006320 0 0 CCDC116 164592 broad.mit.edu 37 22 21988757 21988757 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:21988757C>G ENST00000292779.3 + 3 680 c.519C>G c.(517-519)agC>agG p.S173R NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 173 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) GCTCCCACAGCCGGGACAGTG 0.607000 17 45 0 0 0.007413 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530636 80530636 + Silent SNP G G A rs138746641 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:80530636G>A ENST00000295057.3 - 2 965 c.309C>T c.(307-309)tcC>tcT p.S103S CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S103S|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 103 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CCCCCTGCACGGAGCAGATGT 0.592000 HNSCC(69;0.2) 37 82 0 0 0.006230 0 0 RP1L1 94137 broad.mit.edu 37 8 10465835 10465835 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:10465835G>A ENST00000382483.3 - 4 5996 c.5773C>T c.(5773-5775)Ctg>Ttg p.L1925L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1925 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCAGTCTCCAGGGCCTCTACA 0.627000 36 95 0 0 0.003755 0 0 DNAH5 1767 broad.mit.edu 37 5 13716662 13716662 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:13716662G>A ENST00000265104.4 - 74 12947 c.12843C>T c.(12841-12843)ttC>ttT p.F4281F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4281 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTAAAAACTGAAATCTGGTC 0.358000 Kartagener syndrome 17 62 0 0 0.006122 0 0 DDR1 780 broad.mit.edu 37 6 30865183 30865183 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:30865183C>T ENST00000324771.8 + 17 2573 c.2025C>T c.(2023-2025)atC>atT p.I675I DDR1_ENST00000454612.2_Silent_p.I638I|DDR1_ENST00000376569.3_Silent_p.I638I|DDR1_ENST00000376575.3_Silent_p.I681I|DDR1_ENST00000376570.4_Silent_p.I638I|DDR1_ENST00000452441.1_Silent_p.I675I|DDR1_ENST00000418800.2_Silent_p.I638I|DDR1_ENST00000513240.1_Silent_p.I681I|DDR1_ENST00000508312.1_Silent_p.I656I|DDR1_ENST00000361741.4_Silent_p.I342I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Silent_p.I638I|DDR1_ENST00000376568.3_Silent_p.I675I Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 675 Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) AGGTGAAGATCATGTCGAGGC 0.587000 10 95 0 0 0.006214 0 0 SRRM2 23524 broad.mit.edu 37 16 2817499 2817499 + Missense_Mutation SNP C C T rs61747731 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:2817499C>T ENST00000301740.8 + 11 7519 c.6970C>T c.(6970-6972)Ccc>Tcc p.P2324S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2324 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGCAAACTATCCCTCCAGCTC 0.602000 65 84 0 0 0.003610 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959332 45959332 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:45959332G>A ENST00000400375.1 - 1 746 c.702C>T c.(700-702)ctC>ctT p.L234L TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 234 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GGCGGCAGAGGAGGGACACGG 0.687000 21 19 0 0 0.002299 0 0 NPSR1 387129 broad.mit.edu 37 7 34851465 34851465 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:34851465C>T ENST00000360581.1 + 4 596 c.468C>T c.(466-468)ttC>ttT p.F156F NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000531252.1_Silent_p.F145F|NPSR1_ENST00000381539.3_Silent_p.F156F|NPSR1_ENST00000381542.1_Intron NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 156 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CCATGAAGTTCCTTCAAGGAG 0.443000 38 34 0 0 0.006230 0 0 MTMR8 55613 broad.mit.edu 37 X 63564991 63564991 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:63564991G>A ENST00000374852.3 - 7 866 c.799C>T c.(799-801)Cgc>Tgc p.R267C MTMR8_ENST00000453546.1_Missense_Mutation_p.R267C|MTMR8_ENST00000478487.1_5'UTR NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 267 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AATCTGAAGCGAATGTTGGCA 0.488000 26 4 0 0 0.004656 0 0 MYCBP2 23077 broad.mit.edu 37 13 77817289 77817289 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:77817289G>A ENST00000407578.2 - 17 2800 c.2534C>T c.(2533-2535)cCa>cTa p.P845L MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P807L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P807L NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 807 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCCGGGCACTGGGACAGCTAG 0.383000 17 27 0 0 0.006122 0 0 CFB 629 broad.mit.edu 37 6 31915562 31915562 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31915562C>T ENST00000456570.1 + 17 2263 c.2208C>T c.(2206-2208)ttC>ttT p.F736F CFB_ENST00000477310.1_Silent_p.F585F|CFB_ENST00000425368.2_Silent_p.F234F|CFB_ENST00000556679.1_Silent_p.F736F P00751 CFAB_HUMAN complement factor B 234 Peptidase S1. A -> S (in allele FA). complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCGAAGCTTTCCTGTCTTCCC 0.552000 332 554 0 0 0.003610 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947001 57947001 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57947001C>T ENST00000335397.3 + 3 401 c.85C>T c.(85-87)Ctc>Ttc p.L29F NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) CCCTCTCTTCCTCTTGTTTTT 0.453000 45 154 0 0 0.001951 0 0 BAI1 575 broad.mit.edu 37 8 143623563 143623563 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:143623563G>A ENST00000517894.1 + 28 4862 c.3968G>A c.(3967-3969)gGg>gAg p.G1323E BAI1_ENST00000323289.5_Missense_Mutation_p.G1323E O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1323 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTCGGTGACGGGGACATCTTC 0.672000 28 168 0 0 0.007291 0 0 ZEB1 6935 broad.mit.edu 37 10 31791374 31791374 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:31791374C>T ENST00000446923.2 + 4 761 c.370C>T c.(370-372)Cct>Tct p.P124S ZEB1_ENST00000542815.3_Missense_Mutation_p.P73S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P120S|ZEB1_ENST00000320985.10_Missense_Mutation_p.P140S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P141S NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 140 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TGTCATTTTTCCTGAGGCACC 0.423000 36 53 0 0 0.004289 0 0 ANKMY1 51281 broad.mit.edu 37 2 241459909 241459909 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:241459909C>T ENST00000391987.1 - 9 1973 c.1607G>A c.(1606-1608)cGg>cAg p.R536Q ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R297Q|ANKMY1_ENST00000405523.3_Missense_Mutation_p.R395Q|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R395Q|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R395Q|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R625Q|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R306Q|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R474Q|ANKMY1_ENST00000272972.3_Missense_Mutation_p.R536Q Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 536 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GTCCGCGCCCCGGCGCAGCAG 0.697000 13 12 0 0 0.001855 0 0 UNC79 57578 broad.mit.edu 37 14 94063734 94063734 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:94063734C>T ENST00000553484.1 + 24 3374 c.3220C>T c.(3220-3222)Ctg>Ttg p.L1074L UNC79_ENST00000393151.2_Silent_p.L1074L|UNC79_ENST00000256339.4_Silent_p.L897L|UNC79_ENST00000555664.1_Silent_p.L1074L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1074 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTGTAGATTTCTGGATATTCA 0.438000 15 32 0 0 0.004990 0 0 UMODL1 89766 broad.mit.edu 37 21 43504239 43504239 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:43504239C>T ENST00000400427.1 + 3 545 c.149C>T c.(148-150)cCc>cTc p.P50L UMODL1_ENST00000408989.2_Missense_Mutation_p.P122L|UMODL1_ENST00000408910.2_Missense_Mutation_p.P122L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P50L NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 122 EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGGGCCTGCCCCGCAGAGGGG 0.562000 49 50 0 0 0.003610 0 0 HHATL 57467 broad.mit.edu 37 3 42738627 42738627 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:42738627G>A ENST00000441594.1 - 8 1137 c.876C>T c.(874-876)gcC>gcT p.A292A HHATL_ENST00000310417.5_Silent_p.A292A NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 292 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) GGTTTGAATAGGCTAGGCCAG 0.627000 15 29 0 0 0.004990 0 0 ANO7 50636 broad.mit.edu 37 2 242149015 242149015 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:242149015C>T ENST00000274979.8 + 13 1589 c.1486C>T c.(1486-1488)Cgc>Tgc p.R496C ANO7_ENST00000402430.3_Missense_Mutation_p.R495C NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 496 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CCGCGCGCGCCGCATGCTGGC 0.677000 9 19 0 0 0.006214 0 0 PLRG1 5356 broad.mit.edu 37 4 155458438 155458438 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:155458438G>A ENST00000499023.2 - 14 1611 c.1485_splice c.e14+1 p.A495_splice PLRG1_ENST00000393905.2_Splice_Site_p.A495_splice|PLRG1_ENST00000302078.5_Splice_Site_p.A486_splice NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 495 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CAGAACTTACGGCTGTGTCAT 0.328000 13 14 0 0 0.001855 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461203 141461203 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:141461203C>T ENST00000389328.4 - 2 578 c.564G>A c.(562-564)aaG>aaA p.K188K TRAPPC9_ENST00000438773.2_Silent_p.K90K|TRAPPC9_ENST00000389327.3_Silent_p.K90K NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 90 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GTGGCCAGTCCTTGGCCGAGA 0.582000 19 85 0 0 0.001523 0 0 CCDC180 100499483 broad.mit.edu 37 9 100132244 100132244 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:100132244C>T ENST00000375202.2 + 46 5714 c.4362C>T c.(4360-4362)ccC>ccT p.P1454P CCDC180_ENST00000529487.1_Silent_p.P1454P|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Silent_p.P1399P|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 AGCTGCTGCCCCAAGTGTGTT 0.498000 10 20 0 0 0.000978 0 0 SI 6476 broad.mit.edu 37 3 164764781 164764781 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:164764781G>A ENST00000264382.3 - 16 1797 c.1735C>T c.(1735-1737)Cct>Tct p.P579S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 579 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTCTTATTAGGAAAAACTTTT 0.303000 HNSCC(35;0.089) 9 16 0 0 0.004482 0 0 ZNF568 374900 broad.mit.edu 37 19 37441101 37441101 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:37441101T>C ENST00000415168.1 + 5 1230 c.854T>C c.(853-855)cTt>cCt p.L285P ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.L349P NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGCAAAATCTTATTGAGCAC 0.388000 29 59 0 0 0.001512 0 0 MUC16 94025 broad.mit.edu 37 19 9060492 9060492 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9060492G>A ENST00000397910.4 - 3 27157 c.26954C>T c.(26953-26955)gCt>gTt p.A8985V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8987 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCAGAGGAAGCAGGTATGGT 0.498000 62 84 0 0 0.003610 0 0 TBX20 57057 broad.mit.edu 37 7 35293225 35293225 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:35293225A>G ENST00000408931.3 - 1 533 c.7T>C c.(7-9)Ttc>Ctc p.F3L NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 3 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GACGCCGTGAACTCCATGGTC 0.642000 15 13 0 0 0.001882 0 0 CD38 952 broad.mit.edu 37 4 15835868 15835868 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:15835868G>A ENST00000226279.2 + 4 665 c.528G>A c.(526-528)tgG>tgA p.W176* NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 176 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 GCCCAGACTGGAGAAAGGACT 0.408000 21 109 0 0 0.002780 0 0 CD74 972 broad.mit.edu 37 5 149784691 149784691 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:149784691T>C ENST00000353334.6 - 5 673 c.494A>G c.(493-495)aAc>aGc p.N165S CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.N165S NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 165 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGTCTCAGGTTCTCCGGGAA 0.567000 T ROS1 NSCLC 61 106 0 0 0.003610 0 0 DOCK3 1795 broad.mit.edu 37 3 51395443 51395443 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:51395443G>A ENST00000266037.9 + 46 4842 c.4819G>A c.(4819-4821)Gaa>Aaa p.E1607K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1607 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGTGCACCCAGAAATGCGGCC 0.507000 25 102 0 0 0.005443 0 0 AGPAT1 10554 broad.mit.edu 37 6 32138758 32138758 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32138758G>A ENST00000395499.1 - 3 869 c.290C>T c.(289-291)cCc>cTc p.P97L AGPAT1_ENST00000336984.6_Missense_Mutation_p.P97L|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375107.3_Missense_Mutation_p.P97L|AGPAT1_ENST00000375104.2_Missense_Mutation_p.P97L|AGPAT1_ENST00000395497.1_Missense_Mutation_p.P97L|AGPAT1_ENST00000395496.1_Missense_Mutation_p.P97L|AGPAT1_ENST00000412465.2_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 97 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 AACAACATAGGGCTGCGAGGG 0.592000 136 1172 0 0 0.003610 0 0 ATP8A2 51761 broad.mit.edu 37 13 26151272 26151272 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:26151272G>A ENST00000381655.2 + 20 1920 c.1778G>A c.(1777-1779)gGg>gAg p.G593E ATP8A2_ENST00000255283.8_Missense_Mutation_p.G553E|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 553 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.G593V(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TACTGTAAAGGGGCTGTAAGT 0.443000 44 76 0 0 0.003610 0 0 KIF26B 55083 broad.mit.edu 37 1 245851531 245851531 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:245851531C>T ENST00000366518.4 + 9 4207 c.4103C>T c.(4102-4104)tCc>tTc p.S1368F KIF26B_ENST00000407071.2_Missense_Mutation_p.S1749F Q2KJY2 KI26B_HUMAN kinesin family member 26B 1749 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGCGGCCCGTCCGCCTCCACC 0.731000 4 26 0 0 0.001168 0 0 C5AR2 27202 broad.mit.edu 37 19 47844143 47844143 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:47844143G>A ENST00000595464.1 + 2 305 c.87G>A c.(85-87)ctG>ctA p.L29L C5AR2_ENST00000257267.2_Silent_p.L29L|C5AR2_ENST00000600626.1_Silent_p.L29L NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 GCGCCTGCCTGGCCATCGACC 0.662000 24 38 0 0 0.002299 0 0 CYTH3 9265 broad.mit.edu 37 7 6210259 6210259 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:6210259T>A ENST00000350796.3 - 9 866 c.730A>T c.(730-732)Aag>Tag p.K244* CYTH3_ENST00000396741.2_Nonsense_Mutation_p.K159*|CYTH3_ENST00000488964.1_5'UTR NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 244 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 GGCTCGTTCTTAATGCTCTCA 0.582000 8 94 0 0 0.004482 0 0 TRPV4 59341 broad.mit.edu 37 12 110252389 110252389 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:110252389G>A ENST00000418703.2 - 1 307 c.213C>T c.(211-213)ttC>ttT p.F71F TRPV4_ENST00000346520.2_Silent_p.F71F|TRPV4_ENST00000261740.2_Silent_p.F71F|TRPV4_ENST00000537083.1_Silent_p.F71F|TRPV4_ENST00000536838.1_Silent_p.F37F|TRPV4_ENST00000392719.2_Silent_p.F71F|TRPV4_ENST00000541794.1_Silent_p.F71F|TRPV4_ENST00000544971.1_Silent_p.F71F NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 71 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AGGCGCCCTGGAACTTCATGC 0.632000 9 28 0 0 0.006214 0 0 FAT1 2195 broad.mit.edu 37 4 187539895 187539895 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:187539895G>A ENST00000441802.2 - 10 8054 c.7845C>T c.(7843-7845)gtC>gtT p.V2615V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2615 Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GAACTTTAACGACTGAAGTCC 0.428000 HNSCC(5;0.00058) 12 25 0 0 0.002450 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415625 210415625 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:210415625A>T ENST00000367012.3 + 4 1244 c.1014A>T c.(1012-1014)aaA>aaT p.K338N NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 338 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CCTTACGGAAAAAGGAGGCTT 0.388000 21 64 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179606494 179606494 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179606494G>A ENST00000589042.1 - 48 11690 c.11466C>T c.(11464-11466)ttC>ttT p.F3822F TTN_ENST00000359218.5_Silent_p.F3584F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Silent_p.F3651F|TTN_ENST00000591111.1_Silent_p.F3505F|TTN_ENST00000460472.2_Silent_p.F3459F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3505 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTTTGATGAAAATTGGGC 0.373000 20 17 0 0 0.001216 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328746 88328746 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:88328746C>T ENST00000325089.6 + 2 1322 c.1103C>T c.(1102-1104)tCc>tTc p.S368F SLITRK5_ENST00000400028.3_Missense_Mutation_p.S127F NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 368 LRRNT. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CAGACCAAATCCCCGGTGCCT 0.597000 22 12 0 0 0.003330 0 0 OTX2 5015 broad.mit.edu 37 14 57270960 57270960 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:57270960G>A ENST00000339475.5 - 4 495 c.219C>T c.(217-219)atC>atT p.I73I OTX2_ENST00000554788.1_Intron|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000408990.3_Silent_p.I65I|OTX2_ENST00000555006.1_Silent_p.I65I NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 65 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) CTCGCATGAAGATGTCTGGGT 0.597000 11 20 0 0 0.001368 0 0 IARS2 55699 broad.mit.edu 37 1 220312443 220312443 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:220312443C>A ENST00000366922.1 + 18 2384 c.2053C>A c.(2053-2055)Cag>Aag p.Q685K IARS2_ENST00000302637.5_Missense_Mutation_p.Q757K Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 757 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGTCATAGACCAGTACATGCT 0.348000 20 58 1.01871e-10 1.73384e-10 0.001216 1 0 FCHO1 23149 broad.mit.edu 37 19 17881307 17881307 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:17881307C>T ENST00000594202.1 + 8 689 c.410C>T c.(409-411)tCc>tTc p.S137F FCHO1_ENST00000252771.7_Missense_Mutation_p.S137F|FCHO1_ENST00000597512.1_Missense_Mutation_p.S144F|FCHO1_ENST00000600676.1_Missense_Mutation_p.S137F|FCHO1_ENST00000539407.1_Missense_Mutation_p.S137F|FCHO1_ENST00000596951.1_Missense_Mutation_p.S137F|FCHO1_ENST00000595033.1_Missense_Mutation_p.S87F|FCHO1_ENST00000596536.1_Missense_Mutation_p.S137F|FCHO1_ENST00000389133.4_Missense_Mutation_p.S137F NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 137 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CTGCCCAAGTCCCGCGAGAAC 0.622000 13 20 0 0 0.001368 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170368 72170368 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:72170368C>T ENST00000537465.1 - 9 1340 c.1182G>A c.(1180-1182)aaG>aaA p.K394K PMFBP1_ENST00000355636.6_Silent_p.K249K|PMFBP1_ENST00000237353.10_Silent_p.K394K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 394 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TCAAAGTGAGCTTTTGGGTCT 0.547000 28 74 0 0 0.007291 0 0 ATP2A3 489 broad.mit.edu 37 17 3844779 3844779 + Missense_Mutation SNP C C T rs112116136 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:3844779C>T ENST00000309890.7 - 13 1865 c.1715G>A c.(1714-1716)aGg>aAg p.R572K ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.R572K|ATP2A3_ENST00000352011.3_Missense_Mutation_p.R572K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R572K|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R572K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R572K NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 572 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GTCCTCCTTCCTTGGGGGCGC 0.647000 26 30 0 0 0.005443 0 0 KIAA0319 9856 broad.mit.edu 37 6 24547559 24547559 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:24547559C>T ENST00000535378.1 - 22 3668 c.3026G>A c.(3025-3027)cGa>cAa p.R1009Q KIAA0319_ENST00000543707.1_Missense_Mutation_p.R1018Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R973Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R1018Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R957Q NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 1018 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTCTGTGCTTCGGTGCTTGAT 0.522000 13 24 0 0 0.001855 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149001562 149001562 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:149001562C>T ENST00000333677.6 + 9 1435 c.1272C>T c.(1270-1272)ttC>ttT p.F424F NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 424 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TGTGCACATTCGTGACCCTCC 0.587000 15 19 0 0 0.002450 0 0 SMCR8 140775 broad.mit.edu 37 17 18220793 18220793 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:18220793C>T ENST00000406438.3 + 1 2170 c.1690C>T c.(1690-1692)Cca>Tca p.P564S NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 564 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 CATCAGTCCTCCAGAACTGGG 0.493000 37 64 0 0 0.005524 0 0 DNAH2 146754 broad.mit.edu 37 17 7673712 7673712 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:7673712C>T ENST00000572933.1 + 25 5544 c.4084C>T c.(4084-4086)Ctg>Ttg p.L1362L DNAH2_ENST00000389173.2_Silent_p.L1362L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1362 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AACTAAAGAGCTGGCTATAGA 0.537000 17 14 0 0 0.004007 0 0 GLIS3 169792 broad.mit.edu 37 9 3937169 3937169 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:3937169G>A ENST00000324333.10 - 4 1459 c.1266C>T c.(1264-1266)gcC>gcT p.A422A GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.A577A NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 422 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCCTTGAAAAGGCCTTCTCGC 0.448000 26 61 0 0 0.005443 0 0 PEG3 5178 broad.mit.edu 37 19 57325597 57325597 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57325597C>T ENST00000326441.9 - 10 4576 c.4213G>A c.(4213-4215)Gaa>Aaa p.E1405K PEG3_ENST00000593695.1_Missense_Mutation_p.E1279K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1405K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1281K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1405 3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCCTCCACTTCTGGCTCGGCA 0.572000 25 60 0 0 0.005443 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68044831 68044831 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:68044831T>C ENST00000329153.5 + 19 2798 c.2666T>C c.(2665-2667)gTt>gCt p.V889A NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 889 MyTH4. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GTCTGCCTGGTTCACCCCGAG 0.617000 22 35 0 0 0.002299 0 0 RPL8 6132 broad.mit.edu 37 8 146016825 146016825 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:146016825G>A ENST00000262584.3 - 4 568 c.336C>T c.(334-336)atC>atT p.I112I RPL8_ENST00000394920.2_Silent_p.I112I|RPL8_ENST00000528957.1_Silent_p.I112I|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000527914.1_Intron NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 112 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) GGCAGCACACGATTGTACCCT 0.577000 10 73 0 0 0.006214 0 0 MFN1 55669 broad.mit.edu 37 3 179095136 179095136 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:179095136C>T ENST00000471841.1 + 12 1355 c.1229C>T c.(1228-1230)tCa>tTa p.S410L MFN1_ENST00000263969.5_Missense_Mutation_p.S410L|MFN1_ENST00000280653.7_Missense_Mutation_p.S410L NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 410 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TTTCAGGTTTCATGTGCAATG 0.239000 28 86 0 0 0.002096 0 0 PTK2 5747 broad.mit.edu 37 8 141874443 141874443 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:141874443C>T ENST00000522684.1 - 5 647 c.418G>A c.(418-420)Gat>Aat p.D140N PTK2_ENST00000340930.3_Missense_Mutation_p.D140N|PTK2_ENST00000535192.1_Missense_Mutation_p.D140N|PTK2_ENST00000521059.1_Missense_Mutation_p.D140N|PTK2_ENST00000517887.1_Missense_Mutation_p.D184N|PTK2_ENST00000519419.1_Missense_Mutation_p.D184N|PTK2_ENST00000395218.2_Missense_Mutation_p.D140N NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 140 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) GTTGGCTTATCTTCAGTAAAC 0.264000 38 132 0 0 0.002222 0 0 PHKA1 5255 broad.mit.edu 37 X 71802346 71802346 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:71802346G>A ENST00000373545.3 - 31 3712 c.3274C>T c.(3274-3276)Ctc>Ttc p.L1092F PHKA1_ENST00000541944.1_Missense_Mutation_p.L1062F|PHKA1_ENST00000339490.3_Missense_Mutation_p.L1121F|PHKA1_ENST00000373539.3_Missense_Mutation_p.L1151F|PHKA1_ENST00000373542.4_Missense_Mutation_p.L1134F P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1134 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) AGCATGGTGAGGACAAGGATG 0.453000 20 3 0 0 0.001216 0 0 NRXN1 9378 broad.mit.edu 37 2 50464101 50464101 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:50464101C>T ENST00000404971.1 - 19 4831 c.3492G>A c.(3490-3492)acG>acA p.T1164T NRXN1_ENST00000342183.5_Silent_p.T89T|NRXN1_ENST00000402717.3_Silent_p.T1116T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.T1124T|NRXN1_ENST00000401669.2_Silent_p.T1124T|NRXN1_ENST00000401710.1_Silent_p.T142T|NRXN1_ENST00000405472.3_Silent_p.T1116T|NRXN1_ENST00000406316.2_Silent_p.T1124T NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1124 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGATATATGTCGTCCCAGCTG 0.408000 19 47 0 0 0.002299 0 0 RECK 8434 broad.mit.edu 37 9 36122903 36122903 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:36122903T>A ENST00000377966.3 + 21 3343 c.2777T>A c.(2776-2778)cTc>cAc p.L926H NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 926 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CATGTCCCTCTCTCTGCCCTC 0.557000 32 110 0 0 0.004878 0 0 FAM65A 79567 broad.mit.edu 37 16 67578895 67578895 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:67578895C>T ENST00000540839.3 + 18 3183 c.2963C>T c.(2962-2964)aCc>aTc p.T988I FAM65A_ENST00000428437.2_Missense_Mutation_p.T983I|FAM65A_ENST00000042381.4_Missense_Mutation_p.T969I|FAM65A_ENST00000422602.2_Missense_Mutation_p.T989I|FAM65A_ENST00000379312.3_Missense_Mutation_p.T973I Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 973 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GGCTTCCTGACCTTCTGGGAC 0.617000 45 136 0 0 0.002852 0 0 PEX26 55670 broad.mit.edu 37 22 18568002 18568002 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:18568002C>T ENST00000329627.6 + 5 998 c.792C>T c.(790-792)ctC>ctT p.L264L PEX26_ENST00000428061.2_Intron|PEX26_ENST00000399744.3_Silent_p.L264L NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 264 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TCCTCTGTCTCCTGGTGGTGA 0.562000 38 128 0 0 0.006999 0 0 SMYD4 114826 broad.mit.edu 37 17 1690790 1690790 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:1690790G>A ENST00000305513.7 - 6 1813 c.1646C>T c.(1645-1647)tCc>tTc p.S549F NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 549 SET. zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GCTAATGAAGGACACGCTGGT 0.587000 4 3 0 0 0.000248 0 0 DSG4 147409 broad.mit.edu 37 18 28992958 28992958 + Silent SNP G G A rs151048983 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:28992958G>A ENST00000359747.4 + 15 2609 c.2580G>A c.(2578-2580)agG>agA p.R860R DSG4_ENST00000308128.4_Silent_p.R841R|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 841 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAAAATTTAGGACTCTTGCTG 0.443000 30 34 0 0 0.001512 0 0 HMCN1 83872 broad.mit.edu 37 1 186088384 186088384 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:186088384G>A ENST00000271588.4 + 78 12139 c.11910G>A c.(11908-11910)agG>agA p.R3970R HMCN1_ENST00000367492.2_Silent_p.R3970R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3970 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTGTCGCTAGGAATGCGGCTG 0.403000 35 165 0 0 0.002522 0 0 FOXP4 116113 broad.mit.edu 37 6 41558050 41558050 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41558050C>T ENST00000373060.1 + 12 1857 c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W FOXP4_ENST00000409208.1_Missense_Mutation_p.R455W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R454W|FOXP4_ENST00000373057.3_Missense_Mutation_p.R465W|FOXP4_ENST00000307972.4_Missense_Mutation_p.R467W NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 467 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CGCCGACGTCCGGCCCCCCTT 0.632000 22 158 0 0 0.002780 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555073 44555073 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:44555073C>T ENST00000330682.2 - 1 1376 c.1141G>A c.(1141-1143)Gac>Aac p.D381N KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 381 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GCGGCATTGTCTTTCTCTGTG 0.572000 27 1348 0 0 0.001523 0 0 MACF1 23499 broad.mit.edu 37 1 39782178 39782178 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:39782178G>A ENST00000564288.1 + 28 4342 c.3565G>A c.(3565-3567)Gag>Aag p.E1189K MACF1_ENST00000361689.2_Missense_Mutation_p.E1194K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.E1194K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1194K|MACF1_ENST00000567887.1_Missense_Mutation_p.E1226K|MACF1_ENST00000372915.3_Missense_Mutation_p.E1194K|MACF1_ENST00000317713.7_Missense_Mutation_p.E1194K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1194 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTCAGCTCTGGAGGCCCATTG 0.433000 47 79 0 0 0.003610 0 0 KLC4 89953 broad.mit.edu 37 6 43034148 43034148 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43034148C>T ENST00000394056.2 + 6 1171 c.676C>T c.(676-678)Cgc>Tgc p.R226C KLC4_ENST00000479388.1_Missense_Mutation_p.R226C|KLC4_ENST00000453940.2_Missense_Mutation_p.R149C|KLC4_ENST00000347162.5_Missense_Mutation_p.R226C|KLC4_ENST00000458460.2_Missense_Mutation_p.R226C|KLC4_ENST00000394058.1_Missense_Mutation_p.R226C|KLC4_ENST00000259708.3_Missense_Mutation_p.R244C Q9NSK0 KLC4_HUMAN kinesin light chain 4 226 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) AGCCCAAGGTCGCTATGAGGT 0.597000 22 98 0 0 0.002780 0 0 UBR4 23352 broad.mit.edu 37 1 19403252 19403252 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:19403252C>T ENST00000375267.2 - 106 15535 c.15532G>A c.(15532-15534)Gag>Aag p.E5178K UBR4_ENST00000429347.2_Missense_Mutation_p.E680K|UBR4_ENST00000375217.2_Missense_Mutation_p.E5150K|UBR4_ENST00000375254.3_Missense_Mutation_p.E5157K|UBR4_ENST00000375224.1_Missense_Mutation_p.E864K|UBR4_ENST00000375226.2_Missense_Mutation_p.E5133K|UBR4_ENST00000375225.3_Missense_Mutation_p.E232K|UBR4_ENST00000543981.1_Missense_Mutation_p.E821K Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 5157 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCGAGGAACTCTGAGAAGGTC 0.527000 73 148 0 0 0.003610 0 0 PEG3 5178 broad.mit.edu 37 19 57335673 57335673 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57335673G>A ENST00000326441.9 - 4 714 c.351C>T c.(349-351)ctC>ctT p.L117L PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000593931.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000423103.2_Silent_p.L117L|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000221722.5_5'UTR|PEG3_ENST00000598410.1_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 117 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCAGAGTGACGAGCTTCTCAC 0.547000 36 68 0 0 0.005524 0 0 ZNF468 90333 broad.mit.edu 37 19 53344355 53344355 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:53344355G>A ENST00000595646.1 - 4 1312 c.1192C>T c.(1192-1194)Ctt>Ttt p.L398F ZNF468_ENST00000390651.4_Missense_Mutation_p.L345F|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.L345F|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TGTCTTTCAAGGTGTGATTTG 0.403000 22 114 0 0 0.002780 0 0 TPRN 286262 broad.mit.edu 37 9 140093725 140093725 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:140093725C>T ENST00000409012.4 - 1 1525 c.1439G>A c.(1438-1440)aGg>aAg p.R480K TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.R419K NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 480 sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 GTGCAGAGGCCTGGCAGGGTG 0.652000 19 29 0 0 0.001523 0 0 CPNE9 151835 broad.mit.edu 37 3 9771272 9771272 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:9771272G>A ENST00000383832.3 + 21 1748 c.1558G>A c.(1558-1560)Gag>Aag p.E520K NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 520 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) TGTGCTGGCCGAGATCCCGGA 0.637000 23 42 0 0 0.003954 0 0 ZZEF1 23140 broad.mit.edu 37 17 3937385 3937385 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:3937385C>T ENST00000381638.2 - 40 6632 c.6508G>A c.(6508-6510)Ggg>Agg p.G2170R NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2170 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GAACTGTCCCCTGCAGCAAAC 0.547000 40 65 0 0 0.003610 0 0 COL1A1 1277 broad.mit.edu 37 17 48268227 48268227 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:48268227A>G ENST00000225964.5 - 33 2412 c.2294T>C c.(2293-2295)cTg>cCg p.L765P NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 765 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GGGGCCAGTCAGACCACGGAC 0.592000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 31 12 0 0 0.003755 0 0 DEFB115 245929 broad.mit.edu 37 20 29845498 29845498 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:29845498G>A ENST00000400552.1 + 1 32 c.32G>A c.(31-33)gGa>gAa p.G11E NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 11 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) CCCCTCTCAGGAGACATTAAA 0.512000 20 57 0 0 0.001523 0 0 ARAP2 116984 broad.mit.edu 37 4 36163142 36163142 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:36163142G>A ENST00000303965.4 - 12 2693 c.2204C>T c.(2203-2205)tCc>tTc p.S735F NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 735 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCTAACCTTGGAATCTTTTGG 0.348000 22 98 0 0 0.003330 0 0 PRKAR1B 5575 broad.mit.edu 37 7 751017 751017 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:751017C>T ENST00000406797.1 - 2 300 c.126G>A c.(124-126)aaG>aaA p.K42K PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000403562.1_Silent_p.K42K|PRKAR1B_ENST00000360274.4_Silent_p.K42K|PRKAR1B_ENST00000544935.1_Silent_p.K42K|PRKAR1B_ENST00000537384.1_Silent_p.K42K NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 42 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) GGCGTTCGGGCTTGGAGATGC 0.637000 10 109 0 0 0.006214 0 0 LARGE 9215 broad.mit.edu 37 22 33673211 33673211 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:33673211G>A ENST00000354992.2 - 15 2479 c.1908C>T c.(1906-1908)ccC>ccT p.P636P LARGE_ENST00000402320.1_Silent_p.P584P|LARGE_ENST00000452586.2_Silent_p.P435P|LARGE_ENST00000437602.2_Silent_p.P587P|LARGE_ENST00000337431.2_Silent_p.P584P|LARGE_ENST00000397394.2_Silent_p.P636P NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 636 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) CGAAGTTTGTGGGTGCGTGGC 0.582000 9 75 0 0 0.006214 0 0 SCAND3 114821 broad.mit.edu 37 6 28541011 28541011 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:28541011C>T ENST00000452236.2 - 4 3272 c.2655G>A c.(2653-2655)atG>atA p.M885I NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 885 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gttgatcttccatatcattag 0.373000 38 175 0 0 0.001951 0 0 LRRC8D 55144 broad.mit.edu 37 1 90398924 90398924 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:90398924C>T ENST00000337338.5 + 3 704 c.297C>T c.(295-297)tcC>tcT p.S99S LRRC8D_ENST00000394593.3_Silent_p.S99S NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 99 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) ACGACATTTCCTTTGGGACAT 0.498000 13 12 0 0 0.001368 0 0 FBN1 2200 broad.mit.edu 37 15 48748863 48748863 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:48748863A>C ENST00000316623.5 - 44 5848 c.5393T>G c.(5392-5394)tTc>tGc p.F1798C NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1798 EGF-like 29; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GTCATTATAGAAGAATCCCAC 0.438000 30 51 0 0 0.001786 0 0 SCAND3 114821 broad.mit.edu 37 6 28540061 28540061 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:28540061C>T ENST00000452236.2 - 4 4222 c.3605G>A c.(3604-3606)gGa>gAa p.G1202E NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1202 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ccacaaatttcctatgcgtgg 0.328000 6 40 0 0 0.001168 0 0 SLC12A5 57468 broad.mit.edu 37 20 44676132 44676132 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:44676132C>T ENST00000454036.1 + 15 1972 c.1896C>T c.(1894-1896)ctC>ctT p.L632L SLC12A5_ENST00000243964.3_Silent_p.L609L|SLC12A5_ENST00000539566.1_3'UTR NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 632 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCCTGGCCCTCATGTTCATCT 0.577000 48 98 0 0 0.003610 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631072 6631072 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:6631072G>A ENST00000333172.6 + 2 488 c.295G>A c.(295-297)Ggg>Agg p.G99R TAS1R1_ENST00000351136.3_Missense_Mutation_p.G99R|TAS1R1_ENST00000328191.4_Missense_Mutation_p.G99R NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 99 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CATCACCCTGGGGTACCAGCT 0.547000 55 113 0 0 0.003610 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73185051 73185051 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:73185051G>A ENST00000286657.4 - 9 1386 c.1350C>T c.(1348-1350)atC>atT p.I450I NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 450 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGACATACTGGATATATCTTT 0.423000 23 23 0 0 0.004656 0 0 REV3L 5980 broad.mit.edu 37 6 111632369 111632369 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:111632369C>T ENST00000435970.1 - 31 9280 c.8464G>A c.(8464-8466)Gga>Aga p.G2822R REV3L_ENST00000368802.3_Missense_Mutation_p.G2900R|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368805.1_Missense_Mutation_p.G2900R|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Missense_Mutation_p.G2900R O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2900 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTGGCCTTTCCTTCCAGAAGC 0.383000 DNA polymerases (catalytic subunits) 49 124 0 0 0.003610 0 0 C7orf50 84310 broad.mit.edu 37 7 1037314 1037314 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:1037314G>A ENST00000397098.3 - 5 1458 c.532C>T c.(532-534)Ccc>Tcc p.P178S C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.P178S|C7orf50_ENST00000397100.2_Missense_Mutation_p.P178S Q9BRJ6 CG050_HUMAN chromosome 7 open reading frame 50 178 protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) CCCGGCAGGGGGGGATCAGAG 0.721000 33 34 0 0 0.002836 0 0 LHX1 3975 broad.mit.edu 37 17 35300134 35300134 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:35300134G>A ENST00000254457.5 + 5 2338 c.927G>A c.(925-927)gtG>gtA p.V309V RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 309 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) AGACACCAGTGGACCTACCCT 0.716000 6 1 0 0 0.001168 0 0 OSR1 130497 broad.mit.edu 37 2 19553163 19553163 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:19553163C>T ENST00000536433.1 - 1 3514 c.404G>A c.(403-405)gGt>gAt p.G135D OSR1_ENST00000272223.2_Missense_Mutation_p.G135D Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 135 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) CTCCCCGCGACCGAGCTTGGC 0.637000 25 65 0 0 0.004656 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1904487 1904487 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:1904487G>A ENST00000382722.5 - 37 3649 c.3287C>T c.(3286-3288)tCc>tTc p.S1096F CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S1096F|CACNA2D4_ENST00000538450.1_Missense_Mutation_p.S226F|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.S241F|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S1071F|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S1032F|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S1032F NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 1096 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGCGTGGCAGGAGTCTGGTCG 0.592000 10 21 0 0 0.001368 0 0 CTD-2587H24.4 0 broad.mit.edu 37 19 55670969 55670969 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55670969G>A ENST00000587871.1 - 3 153 c.154C>T c.(154-156)Cca>Tca p.P52S DNAAF3_ENST00000391720.4_Silent_p.V437V|DNAAF3_ENST00000455045.1_Silent_p.V336V|DNAAF3_ENST00000527223.2_Silent_p.V457V|DNAAF3_ENST00000524407.2_Silent_p.V390V|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA TGAGAAGATGGACCATACTGC 0.597000 25 65 0 0 0.003330 0 0 CRTC2 200186 broad.mit.edu 37 1 153923985 153923985 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:153923985G>A ENST00000368633.1 - 11 1282 c.1155C>T c.(1153-1155)acC>acT p.T385T CRTC2_ENST00000368630.3_Silent_p.T65T NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 385 Ser-rich. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCCAGGGAGGTGGTGGGCA 0.647000 13 38 0 0 0.004990 0 0 ALG3 10195 broad.mit.edu 37 3 183961677 183961677 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183961677G>A ENST00000455059.1 - 6 1168 c.714C>T c.(712-714)ttC>ttT p.F238F ALG3_ENST00000418734.2_Silent_p.F222F|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000397676.3_Silent_p.F278F|ALG3_ENST00000445626.2_Silent_p.F230F Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 278 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTCTGGGAGGAAGCGCCAGT 0.632000 15 25 0 0 0.003163 0 0 TRAP1 10131 broad.mit.edu 37 16 3722817 3722817 + Missense_Mutation SNP G G A rs111548439 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:3722817G>A ENST00000575671.1 - 5 1151 c.422C>T c.(421-423)cCg>cTg p.P141L TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000538171.1_Missense_Mutation_p.P297L|TRAP1_ENST00000246957.5_Missense_Mutation_p.P350L Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 350 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) AAACATGGACGGTTTCTGGGG 0.627000 3 9 0 0 0.004672 0 0 KCNK17 89822 broad.mit.edu 37 6 39271779 39271779 + Silent SNP G G A rs140940240 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:39271779G>A ENST00000453413.2 - 4 782 c.642C>T c.(640-642)ttC>ttT p.F214F KCNK17_ENST00000373231.4_Silent_p.F214F NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 214 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 TGATGAAGGCGAAGTAGAAGC 0.632000 26 111 0 0 0.007291 0 0 SEMA3F 6405 broad.mit.edu 37 3 50219719 50219719 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:50219719G>A ENST00000002829.3 + 8 1130 c.646G>A c.(646-648)Gag>Aag p.E216K SEMA3F_ENST00000413852.1_Missense_Mutation_p.E117K|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E185K NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 216 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACCCACAGATGAGGAGCTCTA 0.567000 23 46 0 0 0.001882 0 0 SURF6 6838 broad.mit.edu 37 9 136199576 136199576 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:136199576G>A ENST00000372022.4 - 4 679 c.414C>T c.(412-414)tcC>tcT p.S138S SURF6_ENST00000468290.1_5'UTR NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 138 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) AGGCGGCAGGGGACAGCTCCT 0.602000 23 31 0 0 0.002780 0 0 IFIH1 64135 broad.mit.edu 37 2 163134116 163134116 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:163134116C>T ENST00000263642.2 - 10 2248 c.1853G>A c.(1852-1854)cGa>cAa p.R618Q NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 618 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 ATCTATCATTCGAATTGTGTC 0.358000 49 33 0 0 0.003610 0 0 KLHL24 54800 broad.mit.edu 37 3 183368598 183368598 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183368598C>T ENST00000454652.1 + 4 840 c.454C>T c.(454-456)Cgt>Tgt p.R152C KLHL24_ENST00000242810.6_Missense_Mutation_p.R152C|KLHL24_ENST00000476808.1_Missense_Mutation_p.R152C Q6TFL4 KLH24_HUMAN kelch-like family member 24 152 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TAGTGTTCTCCGTGATGCATG 0.408000 29 84 0 0 0.006320 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589305 140589305 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140589305G>A ENST00000239450.2 + 1 1015 c.826G>A c.(826-828)Gaa>Aaa p.E276K PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 276 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACAAACAGTGAACTATCCTA 0.418000 79 120 0 0 0.003610 0 0 ABCB11 8647 broad.mit.edu 37 2 169825893 169825893 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:169825893C>T ENST00000263817.6 - 16 2102 c.1978G>A c.(1978-1980)Gga>Aga p.G660R NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 660 Interaction with HAX1 (By similarity). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GCTTGATTTCCCTGGCTTTGC 0.383000 4 13 0 0 0.000602 0 0 TET2 54790 broad.mit.edu 37 4 106156057 106156057 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:106156057G>A ENST00000540549.1 + 3 1818 c.958G>A c.(958-960)Gaa>Aaa p.E320K TET2_ENST00000305737.2_Missense_Mutation_p.E320K|TET2_ENST00000394764.1_Missense_Mutation_p.E320K|TET2_ENST00000513237.1_Missense_Mutation_p.E341K|TET2_ENST00000380013.4_Missense_Mutation_p.E320K|TET2_ENST00000413648.2_Missense_Mutation_p.E320K|TET2_ENST00000545826.1_Missense_Mutation_p.E320K Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 320 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TCAGAAACCAGAACAACTACA 0.433000 """Mis N, F""" MDS 10 14 0 0 0.001368 0 0 CADM3 57863 broad.mit.edu 37 1 159166195 159166195 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159166195C>T ENST00000368125.4 + 6 890 c.733C>T c.(733-735)Cgt>Tgt p.R245C CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.R279C NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 245 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.R279C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TCCCCATCCTCGTGAGGGCCA 0.517000 OREG0013913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 11 0 0 0.003271 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679096 37679096 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:37679096G>A ENST00000379800.3 - 1 707 c.298C>T c.(298-300)Ctc>Ttc p.L100F NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 100 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AAATTAAAGAGGTCTTCGAGG 0.443000 20 35 0 0 0.001882 0 0 SSH2 85464 broad.mit.edu 37 17 27959827 27959827 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:27959827C>A ENST00000269033.3 - 15 2455 c.2304G>T c.(2302-2304)ctG>ctT p.L768L RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.L795L NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 768 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTCTCCTTTCAGTTGAATCT 0.463000 11 41 6.40141e-05 0.000108389 0.000978 1 0 RUNX2 860 broad.mit.edu 37 6 45480082 45480082 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:45480082C>T ENST00000371438.1 + 6 1317 c.959C>T c.(958-960)cCg>cTg p.P320L RUNX2_ENST00000371432.3_Missense_Mutation_p.P306L|RUNX2_ENST00000359524.5_Missense_Mutation_p.P306L|RUNX2_ENST00000576263.1_Missense_Mutation_p.P320L|RUNX2_ENST00000352853.5_Missense_Mutation_p.P388L|RUNX2_ENST00000541979.1_Missense_Mutation_p.P388L|RUNX2_ENST00000465038.2_Missense_Mutation_p.P320L|RUNX2_ENST00000371436.6_Missense_Mutation_p.P320L NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 320 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCTACCACCCCGCTGTCTTCC 0.587000 27 110 0 0 0.005443 0 0 TMEM57 55219 broad.mit.edu 37 1 25812149 25812149 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:25812149C>T ENST00000374343.4 + 8 1538 c.1359C>T c.(1357-1359)atC>atT p.I453I TMEM57_ENST00000399766.3_Silent_p.I226I|TMEM57_ENST00000399763.3_Silent_p.I95I NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 453 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) AGCAGAATATCAGCCAGTTGG 0.353000 39 64 0 0 0.007835 0 0 KERA 11081 broad.mit.edu 37 12 91445201 91445201 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:91445201C>T ENST00000266719.3 - 3 1228 c.981G>A c.(979-981)ctG>ctA p.L327L NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 327 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 CATTTCCATCCAGACGGAGGT 0.438000 20 40 0 0 0.001216 0 0 SETD4 54093 broad.mit.edu 37 21 37417917 37417917 + Missense_Mutation SNP G G A rs139822807 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:37417917G>A ENST00000399215.1 - 5 2061 c.689C>T c.(688-690)cCg>cTg p.P230L SETD4_ENST00000399208.2_Missense_Mutation_p.P230L|SETD4_ENST00000332131.4_Missense_Mutation_p.P230L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.P206L|SETD4_ENST00000399201.1_Missense_Mutation_p.P206L|SETD4_ENST00000399205.1_Missense_Mutation_p.P206L|SETD4_ENST00000399207.1_Missense_Mutation_p.P230L Q9NVD3 SETD4_HUMAN SET domain containing 4 230 SET. autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 GTCCAGGTACGGAGCGAGTGC 0.587000 6 26 0 0 0.001984 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36279003 36279003 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:36279003C>T ENST00000007510.4 + 21 3680 c.3536C>T c.(3535-3537)cCc>cTc p.P1179L ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1015L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1018L O14559 RHG33_HUMAN Rho GTPase activating protein 33 1179 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCCAGGGGTCCCTCACCTGCC 0.682000 14 33 0 0 0.004007 0 0 CRNN 49860 broad.mit.edu 37 1 152382122 152382122 + Missense_Mutation SNP C C T rs138795800 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:152382122C>T ENST00000271835.3 - 3 1498 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 479 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGATGCCTCGCTTCTCTTC 0.542000 16 68 0 0 0.004007 0 0 SPDEF 25803 broad.mit.edu 37 6 34508834 34508834 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:34508834C>T ENST00000374037.3 - 3 975 c.561G>A c.(559-561)tcG>tcA p.S187S SPDEF_ENST00000544425.1_Silent_p.S187S NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 187 PNT. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 ACTGCTCCTCCGACATGGCGC 0.652000 8 38 0 0 0.003080 0 0 ERO1LB 56605 broad.mit.edu 37 1 236384259 236384259 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:236384259C>T ENST00000354619.5 - 15 1417 c.1216G>A c.(1216-1218)Ggt>Agt p.G406S GPR137B_ENST00000477559.1_Intron NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 406 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GTTCCTAAACCCTGAGTCTAA 0.333000 11 46 0 0 0.000978 0 0 ATP7A 538 broad.mit.edu 37 X 77300981 77300981 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:77300981A>G ENST00000341514.6 + 22 4293 c.4138A>G c.(4138-4140)Att>Gtt p.I1380V ATP7A_ENST00000343533.5_Missense_Mutation_p.I1302V|ATP7A_ENST00000350425.4_Missense_Mutation_p.I383V NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1380 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TTTTATGCCCATTGGTTTGGT 0.343000 61 15 0 0 0.003610 0 0 TEKT2 27285 broad.mit.edu 37 1 36553171 36553171 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:36553171C>A ENST00000207457.3 + 8 1114 c.987C>A c.(985-987)ctC>ctA p.L329L NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 329 L -> F (in Ref. 1; AAC09343). cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACGTGGAACTCTGCCGGGACC 0.617000 9 19 6.40141e-05 0.000108389 0.000978 1 0 CFTR 1080 broad.mit.edu 37 7 117182159 117182159 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:117182159G>A ENST00000003084.6 + 9 1338 c.1206G>A c.(1204-1206)gaG>gaA p.E402E CFTR_ENST00000454343.1_Silent_p.E402E NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 402 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CCTTCTGGGAGGAGGTCAGAA 0.308000 Cystic Fibrosis 12 18 0 0 0.001855 0 0 TIAM1 7074 broad.mit.edu 37 21 32554872 32554872 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:32554872G>A ENST00000286827.3 - 16 3224 c.2753C>T c.(2752-2754)cCc>cTc p.P918L TIAM1_ENST00000541036.1_Missense_Mutation_p.P858L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 918 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GCCCAGCGAGGGCTGTGAGAG 0.597000 24 47 0 0 0.003330 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501932 140501932 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140501932G>A ENST00000194152.1 + 1 352 c.352G>A c.(352-354)Gga>Aga p.G118R NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 118 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTTTTTCAAGGAGAATTATT 0.433000 16 66 0 0 0.004990 0 0 LILRB1 10859 broad.mit.edu 37 19 55144129 55144129 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55144129G>A ENST00000396331.1 + 7 1233 c.876G>A c.(874-876)ggG>ggA p.G292G LILRB1_ENST00000418536.2_Silent_p.G292G|LILRB1_ENST00000396317.1_Silent_p.G292G|LILRB1_ENST00000396321.2_Silent_p.G292G|LILRB1_ENST00000434867.2_Silent_p.G292G|LILRB1_ENST00000324602.7_Silent_p.G292G|LILRB1_ENST00000427581.2_Silent_p.G328G|LILRB1_ENST00000396332.4_Silent_p.G292G|LILRB1_ENST00000448689.1_Silent_p.G292G|LILRB1_ENST00000396315.1_Silent_p.G292G|LILRB1_ENST00000396327.3_Silent_p.G292G NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 292 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GCTCCTACGGGGGCCAGTACA 0.672000 HNSCC(37;0.09) 22 43 0 0 0.005443 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708302 29708302 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:29708302C>T ENST00000406549.3 + 6 1331 c.1181C>T c.(1180-1182)cCc>cTc p.P394L GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 398 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CCTGGGAGCCCCCTGGCTTGC 0.682000 25 18 0 0 0.004656 0 0 DNAH11 8701 broad.mit.edu 37 7 21805179 21805179 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:21805179G>A ENST00000328843.6 + 56 9126 c.9095G>A c.(9094-9096)aGg>aAg p.R3032K DNAH11_ENST00000409508.3_Missense_Mutation_p.R3025K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3032 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTCAGCAGGAGGTTCATTGAG 0.537000 Kartagener syndrome 7 20 0 0 0.001984 0 0 LONP1 9361 broad.mit.edu 37 19 5719871 5719871 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:5719871C>T ENST00000360614.3 - 1 430 c.273G>A c.(271-273)gaG>gaA p.E91E LONP1_ENST00000540670.2_Intron|LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000593119.1_Intron NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 91 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 cggcTCCTTCCTCCGCGCCGC 0.746000 3 3 0 0 0.004672 0 0 SLAMF9 89886 broad.mit.edu 37 1 159921548 159921548 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159921548C>T ENST00000368093.3 - 4 889 c.773G>A c.(772-774)cGa>cAa p.R258Q SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.R167Q NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 258 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTCTGGACTCGGATGACCCA 0.498000 51 68 0 0 0.003610 0 0 RELN 5649 broad.mit.edu 37 7 103185575 103185575 + Silent SNP G G A rs146913017 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:103185575G>A ENST00000428762.1 - 42 6678 c.6519C>T c.(6517-6519)ttC>ttT p.F2173F RELN_ENST00000424685.2_Silent_p.F2173F|RELN_ENST00000343529.5_Silent_p.F2173F NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2173 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) GACTACCTTCGAAATCATCTT 0.323000 15 18 0 0 0.002450 0 0 PAPSS2 9060 broad.mit.edu 37 10 89475534 89475534 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:89475534C>T ENST00000361175.4 + 7 1168 c.799C>T c.(799-801)Ccc>Tcc p.P267S PAPSS2_ENST00000456849.1_Missense_Mutation_p.P267S|PAPSS2_ENST00000427144.2_Missense_Mutation_p.P271S NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 267 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CTGGGCCACTCCCCTCAAAGG 0.443000 25 35 0 0 0.005443 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188373 32188373 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32188373G>A ENST00000375023.3 - 6 1106 c.968C>T c.(967-969)cCc>cTc p.P323L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 323 EGF-like 8; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GCAGTGAGGGGGACCCTGGGT 0.627000 57 268 0 0 0.003610 0 0 ZNF446 55663 broad.mit.edu 37 19 58988866 58988866 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:58988866C>T ENST00000596341.1 + 2 2501 c.281C>T c.(280-282)cCt>cTt p.P94L ZNF446_ENST00000594369.1_Missense_Mutation_p.P94L|ZNF446_ENST00000335841.4_Missense_Mutation_p.P94L Q9NWS9 ZN446_HUMAN zinc finger protein 446 94 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CCAGGCAGTCCTGAGGAGGCC 0.637000 6 45 0 0 0.001168 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43919740 43919740 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:43919740G>A ENST00000282406.4 + 4 384 c.274G>A c.(274-276)Gag>Aag p.E92K NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 92 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCAAGATCTGGAGTCGCTAAT 0.338000 95 243 0 0 0.003610 0 0 LILRB1 10859 broad.mit.edu 37 19 55143506 55143506 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55143506G>A ENST00000396331.1 + 6 836 c.479G>A c.(478-480)gGa>gAa p.G160E LILRB1_ENST00000418536.2_Missense_Mutation_p.G160E|LILRB1_ENST00000396317.1_Missense_Mutation_p.G160E|LILRB1_ENST00000396321.2_Missense_Mutation_p.G160E|LILRB1_ENST00000434867.2_Missense_Mutation_p.G160E|LILRB1_ENST00000324602.7_Missense_Mutation_p.G160E|LILRB1_ENST00000427581.2_Missense_Mutation_p.G196E|LILRB1_ENST00000396332.4_Missense_Mutation_p.G160E|LILRB1_ENST00000448689.1_Missense_Mutation_p.G160E|LILRB1_ENST00000396315.1_Missense_Mutation_p.G160E|LILRB1_ENST00000396327.3_Missense_Mutation_p.G160E NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 160 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGTAAGGAAGGAGAAGATGAA 0.607000 HNSCC(37;0.09) 27 47 0 0 0.005443 0 0 NCAM1 4684 broad.mit.edu 37 11 113130934 113130934 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:113130934C>T ENST00000316851.7 + 15 1990 c.1990C>T c.(1990-1992)Ctg>Ttg p.L664L NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.L546L NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 674 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCTGAAGTCCCTGGACTGGAA 0.557000 12 32 0 0 0.000978 0 0 COL2A1 1280 broad.mit.edu 37 12 48367243 48367243 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:48367243C>T ENST00000380518.3 - 54 4575 c.4411G>A c.(4411-4413)Gga>Aga p.G1471R COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1471 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TCGGGCCCTCCTATGTCCATG 0.527000 37 87 0 0 0.006230 0 0 TLR7 51284 broad.mit.edu 37 X 12906412 12906412 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:12906412G>A ENST00000380659.3 + 3 2924 c.2785G>A c.(2785-2787)Gag>Aag p.E929K NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 929 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TTTATGTCTCGAGGAAAGGGA 0.468000 77 7 0 0 0.003610 0 0 SFSWAP 6433 broad.mit.edu 37 12 132238958 132238958 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:132238958C>T ENST00000261674.4 + 9 1509 c.1368C>T c.(1366-1368)gtC>gtT p.V456V SFSWAP_ENST00000541286.1_Silent_p.V456V NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 456 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CCCCCGACGTCCAGCCCGTGA 0.602000 11 30 0 0 0.000673 0 0 OR2A5 393046 broad.mit.edu 37 7 143748115 143748115 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:143748115G>A ENST00000408906.2 + 1 655 c.621G>A c.(619-621)ctG>ctA p.L207L NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TGTTCATCCTGGTGGGGCCGC 0.582000 40 47 0 0 0.007835 0 0 CNTN5 53942 broad.mit.edu 37 11 100170010 100170010 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:100170010C>T ENST00000524871.1 + 20 2792 c.2502C>T c.(2500-2502)ttC>ttT p.F834F CNTN5_ENST00000418526.2_Silent_p.F760F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.F834F|CNTN5_ENST00000528682.1_Silent_p.F834F|CNTN5_ENST00000527185.1_Silent_p.F834F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 834 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTCCAAATTCATTTATCGAG 0.428000 36 3 0 0 0.004878 0 0 ATP1A4 480 broad.mit.edu 37 1 160151744 160151744 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:160151744C>T ENST00000368081.4 + 20 3363 c.2892C>T c.(2890-2892)atC>atT p.I964I ATP1A4_ENST00000470705.1_Silent_p.I100I|ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 964 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TATTTGGGATCCTGGAGGAGA 0.522000 53 188 0 0 0.003610 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432519 73432519 + Silent SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:73432519T>A ENST00000263666.4 - 10 3312 c.3198A>T c.(3196-3198)gtA>gtT p.V1066V PDZRN3_ENST00000479530.1_Silent_p.V783V|PDZRN3_ENST00000535920.1_Silent_p.V788V|PDZRN3_ENST00000466780.1_Silent_p.V723V|PDZRN3_ENST00000462146.2_Silent_p.V723V NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1066 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GTGAAAATTATACAGTAGTCA 0.423000 30 75 0 0 0.002096 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42853644 42853644 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:42853644C>T ENST00000455697.1 - 8 2748 c.2463G>A c.(2461-2463)aaG>aaA p.K821K PRICKLE1_ENST00000548696.1_Silent_p.K821K|PRICKLE1_ENST00000445766.2_Silent_p.K821K|PRICKLE1_ENST00000552240.1_Silent_p.K821K|PRICKLE1_ENST00000345127.3_Silent_p.K821K|RP11-328C8.4_ENST00000547824.1_RNA NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 821 Poly-Lys. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CCTTGTGTCCCTTTTTCTTCT 0.398000 22 104 0 0 0.001882 0 0 ZNF12 7559 broad.mit.edu 37 7 6731942 6731942 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:6731942G>A ENST00000405858.1 - 5 1172 c.631C>T c.(631-633)Cgt>Tgt p.R211C AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.R137C|ZNF12_ENST00000342651.5_Missense_Mutation_p.R173C NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 211 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TCCAAAATACGAATTTTCTGA 0.328000 10 94 0 0 0.000673 0 0 COL14A1 7373 broad.mit.edu 37 8 121383402 121383402 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:121383402G>A ENST00000297848.3 + 48 5593 c.5323G>A c.(5323-5325)Gat>Aat p.D1775N COL14A1_ENST00000247781.3_Missense_Mutation_p.D1680N NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1775 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCCCCATCCAGATCAGCCAGA 0.522000 33 212 0 0 0.004878 0 0 MSI1 4440 broad.mit.edu 37 12 120794811 120794811 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:120794811C>T ENST00000257552.2 - 9 634 c.546G>A c.(544-546)aaG>aaA p.K182K MSI1_ENST00000546622.1_5'UTR NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 182 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTGAGCTTTCTTACATTCCA 0.532000 OREG0022190 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 46 0 0 0.003954 0 0 SLC7A9 11136 broad.mit.edu 37 19 33350862 33350862 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:33350862G>A ENST00000023064.4 - 8 949 c.758C>T c.(757-759)cCt>cTt p.P253L SLC7A9_ENST00000587772.1_Missense_Mutation_p.P253L|SLC7A9_ENST00000590341.1_Missense_Mutation_p.P253L NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 253 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) AATGGCCAAAGGCAGGTTTCT 0.602000 9 26 0 0 0.001368 0 0 OR5L1 219437 broad.mit.edu 37 11 55578978 55578978 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:55578978C>T ENST00000333973.2 + 1 125 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGGCTGAGTTCATTCTCCTTG 0.423000 55 250 0 0 0.003610 0 0 SETD8 387893 broad.mit.edu 37 12 123892187 123892187 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:123892187C>T ENST00000402868.3 + 8 1422 c.996C>T c.(994-996)ctC>ctT p.L332L SETD8_ENST00000330479.4_Silent_p.L332L Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 373 SET. cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) GGGAGGAGCTCCTGTATGACT 0.612000 8 25 0 0 0.004482 0 0 POM121L12 285877 broad.mit.edu 37 7 53103702 53103702 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:53103702C>T ENST00000408890.4 + 1 354 c.338C>T c.(337-339)tCc>tTc p.S113F NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 113 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGAGACCTCTCCTGTGCCTGG 0.721000 6 23 0 0 0.003080 0 0 TM9SF4 9777 broad.mit.edu 37 20 30747839 30747839 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:30747839C>T ENST00000217315.5 + 16 1903 c.1563C>T c.(1561-1563)ttC>ttT p.F521F TM9SF4_ENST00000398022.2_Silent_p.F538F Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 538 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCTTCCTGTTCCTTGTTTTCA 0.542000 24 62 0 0 0.002780 0 0 CLU 1191 broad.mit.edu 37 8 27462528 27462528 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:27462528G>A ENST00000316403.10 - 5 1147 c.742C>T c.(742-744)Ctt>Ttt p.L248F CLU_ENST00000546343.1_Missense_Mutation_p.L259F|CLU_ENST00000405140.3_Missense_Mutation_p.L248F|CLU_ENST00000523500.1_Missense_Mutation_p.L248F|CLU_ENST00000560366.1_Missense_Mutation_p.L300F P10909 CLUS_HUMAN clusterin 248 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) ATCATCTCAAGGAAGGGCTGG 0.577000 32 62 0 0 0.002836 0 0 SZT2 23334 broad.mit.edu 37 1 43895512 43895512 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:43895512C>T ENST00000562955.1 + 28 4134 c.4134C>T c.(4132-4134)atC>atT p.I1378I SZT2_ENST00000372442.1_Silent_p.I536I NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1435 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ATAGCGTCATCCAGGTGGGAA 0.597000 32 56 0 0 0.002096 0 0 AHNAK 79026 broad.mit.edu 37 11 62296260 62296260 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:62296260C>T ENST00000378024.4 - 5 5903 c.5629G>A c.(5629-5631)Gtg>Atg p.V1877M AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1877 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AATTTTGGCACCGACACATCC 0.517000 57 80 0 0 0.003610 0 0 CCDC66 285331 broad.mit.edu 37 3 56627978 56627978 + Silent SNP C C T rs140193610 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:56627978C>T ENST00000394672.3 + 10 1396 c.1326C>T c.(1324-1326)ctC>ctT p.L442L CCDC66_ENST00000326595.7_Silent_p.L408L|CCDC66_ENST00000436465.2_Silent_p.L442L NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 442 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) CCAGCTTTCTCCGTTCTATGA 0.363000 13 45 0 0 0.001855 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394984 233394984 + Silent SNP C C T rs117316984 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:233394984C>T ENST00000258229.8 - 5 858 c.624G>A c.(622-624)acG>acA p.T208T PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 208 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CTGACTTGGTCGTGGTTTCCA 0.478000 69 74 0 0 0.003610 0 0 HTR3E 285242 broad.mit.edu 37 3 183822694 183822694 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183822694C>T ENST00000415389.2 + 5 975 c.509C>T c.(508-510)cCc>cTc p.P170L HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Missense_Mutation_p.P155L|HTR3E_ENST00000440596.2_Missense_Mutation_p.P196L|HTR3E_ENST00000335304.2_Missense_Mutation_p.P185L|HTR3E_ENST00000436361.2_Missense_Mutation_p.P170L NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 170 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TTCTACTTCCCCTTCGACCAG 0.478000 19 68 0 0 0.001882 0 0 PXDNL 137902 broad.mit.edu 37 8 52320734 52320734 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:52320734G>A ENST00000356297.4 - 17 3550 c.3450C>T c.(3448-3450)atC>atT p.I1150I PXDNL_ENST00000543296.1_Silent_p.I1150I NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1150 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.I349I(1)|p.I1150I(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATATGGTGGGATCCCGTGGT 0.448000 44 158 0 0 0.003610 0 0 SUN5 140732 broad.mit.edu 37 20 31583448 31583448 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:31583448C>T ENST00000356173.3 - 8 603 c.511G>A c.(511-513)Gag>Aag p.E171K SUN5_ENST00000375523.3_Missense_Mutation_p.E146K NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 171 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GCTTCCATCTCCTGGAGCTTG 0.502000 73 234 0 0 0.003610 0 0 PRDM1 639 broad.mit.edu 37 6 106552934 106552934 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:106552934C>T ENST00000369096.4 + 5 1133 c.899C>T c.(898-900)cCc>cTc p.P300L PRDM1_ENST00000369091.2_Missense_Mutation_p.P264L|PRDM1_ENST00000369089.3_Missense_Mutation_p.P166L NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 300 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GTCGTTTACCCCATCCGGGCC 0.552000 """D, N, Mis, F, S""" DLBCL 44 63 0 0 0.001951 0 0 PRC1 9055 broad.mit.edu 37 15 91512731 91512731 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:91512731G>A ENST00000361188.5 - 13 2906 c.1695C>T c.(1693-1695)ccC>ccT p.P565P PRC1_ENST00000361919.3_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.P565P|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA O43663 PRC1_HUMAN protein regulator of cytokinesis 1 565 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TGCGCTGGAGGGGGGCCGAGC 0.542000 153 253 0 0 0.003610 0 0 TRIM55 84675 broad.mit.edu 37 8 67086797 67086797 + Missense_Mutation SNP C C T rs149867342 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:67086797C>T ENST00000315962.4 + 10 1989 c.1616C>T c.(1615-1617)tCc>tTc p.S539F TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000350034.4_Missense_Mutation_p.S232F|TRIM55_ENST00000353317.5_Missense_Mutation_p.S443F NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 539 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding p.S539F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CATATCTTCTCCTTTTCCTGG 0.547000 32 229 0 0 0.002836 0 0 MUC2 4583 broad.mit.edu 37 11 1102137 1102137 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:1102137G>A ENST00000441003.2 + 44 7800 c.7773G>A c.(7771-7773)gtG>gtA p.V2591V NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4953 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CGGACAAGGTGGACAACAACA 0.617000 21 22 0 0 0.002299 0 0 ADCY5 111 broad.mit.edu 37 3 123003528 123003528 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:123003528C>G ENST00000462833.1 - 21 4925 c.3713G>C c.(3712-3714)cGg>cCg p.R1238P ADCY5_ENST00000309879.5_Missense_Mutation_p.R888P|ADCY5_ENST00000491190.1_Missense_Mutation_p.R896P NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1238 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GACCACGCCCCGGCACTCCAG 0.607000 32 104 0 0 0.004878 0 0 SLC39A14 23516 broad.mit.edu 37 8 22275267 22275267 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:22275267C>T ENST00000359741.5 + 8 1426 c.1251C>T c.(1249-1251)atC>atT p.I417I SLC39A14_ENST00000289952.5_Silent_p.I417I|SLC39A14_ENST00000381237.1_Silent_p.I417I|SLC39A14_ENST00000240095.6_Silent_p.I417I NM_015359.4 NP_056174.2 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 417 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CCTTTGGCATCCTGGCCGGCA 0.502000 24 64 0 0 0.002780 0 0 LINGO2 158038 broad.mit.edu 37 9 27950484 27950484 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:27950484C>T ENST00000379992.2 - 6 635 c.186G>A c.(184-186)ttG>ttA p.L62L LINGO2_ENST00000308675.3_Silent_p.L62L NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 62 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TACTGAGGTCCAAGATTTTGG 0.468000 39 58 0 0 0.006230 0 0 RADIL 55698 broad.mit.edu 37 7 4856095 4856095 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:4856095G>A ENST00000399583.3 - 8 1917 c.1728_splice c.e8-1 p.S577_splice RADIL_ENST00000536091.1_Splice_Site_p.V523_splice|RADIL_ENST00000538469.1_Splice_Site_p.S337_splice NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 577 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GATGTACAGGGACTGGCGGGG 0.692000 10 103 0 0 0.000673 0 0 RGS20 8601 broad.mit.edu 37 8 54852200 54852200 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:54852200G>A ENST00000297313.3 + 3 667 c.575G>A c.(574-576)gGc>gAc p.G192D RGS20_ENST00000522225.1_Intron|RGS20_ENST00000276500.4_Missense_Mutation_p.G45D|RGS20_ENST00000344277.6_Missense_Mutation_p.G77D NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 192 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) GACACACCAGGCGCCGCCCCA 0.667000 9 26 0 0 0.000673 0 0 LHX4 89884 broad.mit.edu 37 1 180240974 180240974 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:180240974G>A ENST00000263726.2 + 5 855 c.611G>A c.(610-612)tGg>tAg p.W204* RP5-1180C10.2_ENST00000415414.1_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 204 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 TGGCAGGTTTGGTTTCAGAAC 0.607000 37 159 0 0 0.007835 0 0 AXIN1 8312 broad.mit.edu 37 16 360064 360064 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:360064C>T ENST00000262320.3 - 4 1396 c.1025G>A c.(1024-1026)gGg>gAg p.G342E AXIN1_ENST00000354866.3_Missense_Mutation_p.G342E|AXIN1_ENST00000481769.1_5'UTR NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 342 activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TGGGGGGATCCCATCCCTGTC 0.627000 7 5 0 0 0.004482 0 0 KLF17 128209 broad.mit.edu 37 1 44595349 44595349 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:44595349G>A ENST00000372299.3 + 2 464 c.406G>A c.(406-408)Gga>Aga p.G136R KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 136 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) AATGCCCGTAGGAGAGCCCAA 0.542000 22 50 0 0 0.002299 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758735 62758735 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:62758735G>A ENST00000331425.6 - 0 142 NR_003952.1 CCTCCAGAGAGAATTCTATAG 0.433000 7 76 0 0 0.001984 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105883951 105883951 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:105883951G>A ENST00000393359.2 - 12 2898 c.2472C>T c.(2470-2472)ccC>ccT p.P824P TGFBRAP1_ENST00000258449.1_Silent_p.P824P Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 824 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCTCACAAAAGGGATTTTGGC 0.468000 34 46 0 0 0.003755 0 0 SEMA5A 9037 broad.mit.edu 37 5 9122771 9122771 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:9122771G>T ENST00000382496.5 - 14 2443 c.1778C>A c.(1777-1779)tCc>tAc p.S593Y NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 593 TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GGCACACCTGGAACAGTTGGC 0.567000 16 52 1.02788e-11 1.75096e-11 0.004990 1 0 PRAMEF12 390999 broad.mit.edu 37 1 12837394 12837394 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:12837394C>T ENST00000357726.4 + 3 1131 c.1104C>T c.(1102-1104)atC>atT p.I368I NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 368 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGCGCCATCCTGCCTGCCC 0.632000 23 61 0 0 0.003954 0 0 GATA2 2624 broad.mit.edu 37 3 128204627 128204627 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:128204627C>T ENST00000341105.2 - 3 1145 c.814G>A c.(814-816)Ggg>Agg p.G272R GATA2_ENST00000430265.2_Missense_Mutation_p.G272R|GATA2_ENST00000487848.1_Missense_Mutation_p.G272R NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 272 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GCCGGTCCCCCCAGGAAGCCT 0.642000 Mis AML(CML blast transformation) 7 16 0 0 0.004482 0 0 C6orf223 221416 broad.mit.edu 37 6 43968718 43968718 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43968718G>A ENST00000439969.2 + 2 92 c.89G>A c.(88-90)aGg>aAg p.R30K RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_Intron|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000336600.5_Intron Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 0 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) AAGTTGTTGAGGAAGGAGGGA 0.567000 10 58 0 0 0.000978 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463749 25463749 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:25463749G>A ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGCGGGAAGGGGGGTGCCCTG 0.547000 50 23 0 0 0.003610 0 0 HLX 3142 broad.mit.edu 37 1 221057631 221057631 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:221057631C>T ENST00000366903.6 + 4 2553 c.1052C>T c.(1051-1053)cCa>cTa p.P351L HLX_ENST00000549319.1_Missense_Mutation_p.P137L NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 351 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) GGCGAGAAGCCATCAGGTGGA 0.657000 46 23 0 0 0.003610 0 0 DSP 1832 broad.mit.edu 37 6 7584736 7584736 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:7584736G>T ENST00000379802.3 + 24 7582 c.7241G>T c.(7240-7242)gGa>gTa p.G2414V DSP_ENST00000418664.2_Missense_Mutation_p.G1815V NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2414 Globular 2. 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) GATACCAAAGGATTTTTTGAC 0.408000 35 134 1.06647e-15 1.82064e-15 0.003755 1 0 HNRNPL 3191 broad.mit.edu 37 19 39329542 39329542 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:39329542C>T ENST00000221419.5 - 9 1713 c.1347G>A c.(1345-1347)ctG>ctA p.L449L AC104534.3_ENST00000594769.1_Silent_p.*66*|HNRNPL_ENST00000600873.1_Silent_p.L316L NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 449 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) ACCAGACATTCAGCTTCTGCC 0.597000 33 47 0 0 0.004878 0 0 B4GALT7 11285 broad.mit.edu 37 5 177031345 177031345 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:177031345C>T ENST00000029410.5 + 2 327 c.216C>T c.(214-216)ccC>ccT p.P72P NM_007255.2 NP_009186.1 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 72 fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 7 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGGCCCTCCCCGTGCCTGCC 0.701000 4 6 0 0 0.000248 0 0 ZNF14 7561 broad.mit.edu 37 19 19822584 19822584 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:19822584G>A ENST00000344099.3 - 4 1644 c.1506C>T c.(1504-1506)ccC>ccT p.P502P NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TACATTCATAGGGTTTCTCTC 0.383000 25 38 0 0 0.003954 0 0 DEFB125 245938 broad.mit.edu 37 20 76862 76862 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:76862C>T ENST00000382410.2 + 2 275 c.275C>T c.(274-276)cCa>cTa p.P92L NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 92 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) ACTGGTTCCCCAGTATCTATG 0.383000 27 143 0 0 0.004656 0 0 EHMT2 10919 broad.mit.edu 37 6 31860664 31860664 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31860664G>A ENST00000395728.3 - 4 776 c.777C>T c.(775-777)ccC>ccT p.P259P EHMT2_ENST00000375528.4_Silent_p.P259P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.P202P|EHMT2_ENST00000375530.4_Silent_p.P202P Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 202 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GTATTTCAGGGGGCCGCTTCT 0.617000 98 812 0 0 0.003610 0 0 TMC1 117531 broad.mit.edu 37 9 75404142 75404142 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:75404142G>A ENST00000297784.5 + 15 1673 c.1133G>A c.(1132-1134)gGg>gAg p.G378E TMC1_ENST00000396237.3_Missense_Mutation_p.G378E|TMC1_ENST00000340019.3_Missense_Mutation_p.G378E NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 378 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 ACACTTGGAGGGAGTGGATAC 0.463000 21 41 0 0 0.001216 0 0 TMEM260 54916 broad.mit.edu 37 14 57099831 57099831 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:57099831C>T ENST00000261556.6 + 13 1788 c.1666C>T c.(1666-1668)Cct>Tct p.P556S TMEM260_ENST00000536419.1_Missense_Mutation_p.P90S|TMEM260_ENST00000538838.1_3'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 TGTATTCAACCCTGAGGAATG 0.383000 13 32 0 0 0.004990 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773696 35773696 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:35773696C>T ENST00000360215.1 + 1 626 c.249C>T c.(247-249)ccC>ccT p.P83P LHFPL5_ENST00000373853.1_Silent_p.P83P NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 83 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 AGGGCGGCCCCCTAGACTTCT 0.577000 46 249 0 0 0.003610 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750415 41750415 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:41750415C>T ENST00000226382.2 - 1 572 c.213G>A c.(211-213)agG>agA p.R71R RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 71 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 TCTGGTGGTCCCTGAGGGTGC 0.602000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 9 84 0 0 0.000673 0 0 C4A 720 broad.mit.edu 37 6 31964370 31964370 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31964370G>A ENST00000428956.2 + 28 3753 c.3669G>A c.(3667-3669)gaG>gaA p.E1223E C4A_ENST00000498271.1_Silent_p.E1223E NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) TGGCCCAGGAGACTGGAGGTG 0.637000 11 154 0 0 0.001855 0 0 BACH2 60468 broad.mit.edu 37 6 90660621 90660621 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:90660621C>T ENST00000257749.4 - 7 1911 c.1204G>A c.(1204-1206)Gtg>Atg p.V402M BACH2_ENST00000343122.3_Missense_Mutation_p.V402M|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.V402M|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 402 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AAGTTGGACACCTCCTTCTGG 0.582000 17 19 0 0 0.007413 0 0 KCNH2 3757 broad.mit.edu 37 7 150648756 150648756 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:150648756C>T ENST00000392968.2 - 5 2557 c.1437G>A c.(1435-1437)gaG>gaA p.E479E KCNH2_ENST00000430723.3_Silent_p.E575E|KCNH2_ENST00000262186.5_Silent_p.E575E|KCNH2_ENST00000330883.4_Silent_p.E235E Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 575 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGTGTGGCTGCTCCATGTTGC 0.622000 21 17 0 0 0.002299 0 0 GPR31 2853 broad.mit.edu 37 6 167570376 167570376 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:167570376C>T ENST00000366834.1 - 1 1441 c.944G>A c.(943-945)aGa>aAa p.R315K NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 315 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) ATAGGAGTCTCTGGGGTTGAA 0.537000 12 19 0 0 0.002450 0 0 CCDC157 550631 broad.mit.edu 37 22 30766447 30766447 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:30766447C>T ENST00000405659.1 + 5 1262 c.553C>T c.(553-555)Caa>Taa p.Q185* CCDC157_ENST00000338306.3_Nonsense_Mutation_p.Q185* Q569K6 CC157_HUMAN coiled-coil domain containing 157 185 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CCAGACCTGCCAAGAGCCAGA 0.597000 30 8 0 0 0.001786 0 0 C3orf20 84077 broad.mit.edu 37 3 14745926 14745926 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:14745926C>T ENST00000253697.3 + 7 1413 c.961C>T c.(961-963)Cat>Tat p.H321Y C3orf20_ENST00000412910.1_Missense_Mutation_p.H199Y|C3orf20_ENST00000435614.1_Missense_Mutation_p.H199Y|C3orf20_ENST00000495387.1_3'UTR NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 321 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GATGCCCTCTCATCTAATGTT 0.527000 36 84 0 0 0.004289 0 0 NCOA6 23054 broad.mit.edu 37 20 33345250 33345250 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:33345250G>A ENST00000374796.2 - 8 3871 c.1301C>T c.(1300-1302)tCc>tTc p.S434F NCOA6_ENST00000359003.2_Missense_Mutation_p.S434F Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 434 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGCTGGAAGGAGGAGGGTGA 0.582000 16 62 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9077817 9077817 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9077817C>T ENST00000397910.4 - 3 9832 c.9629G>A c.(9628-9630)aGc>aAc p.S3210N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3211 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCCTTGGAGCTCATGATTTT 0.468000 55 55 0 0 0.003610 0 0 SEC31B 25956 broad.mit.edu 37 10 102266174 102266174 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:102266174C>T ENST00000370345.3 - 8 883 c.786G>A c.(784-786)ggG>ggA p.G262G SEC31B_ENST00000451524.1_Silent_p.G262G|SEC31B_ENST00000370329.5_Silent_p.G265G|SEC31B_ENST00000535773.1_Silent_p.G105G NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 262 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTGACAAGATCCCCCTAAAAA 0.473000 13 19 0 0 0.001855 0 0 GSE1 23199 broad.mit.edu 37 16 85694854 85694854 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:85694854C>T ENST00000253458.7 + 9 1919 c.1743C>T c.(1741-1743)ccC>ccT p.P581P GSE1_ENST00000405402.2_Silent_p.P477P|GSE1_ENST00000393243.1_Silent_p.P508P NM_014615.2 NP_055430.1 Gse1 coiled-coil protein ATGCTGCACCCACGGCCCTCT 0.657000 23 45 0 0 0.002780 0 0 TANC2 26115 broad.mit.edu 37 17 61466735 61466735 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:61466735C>T ENST00000424789.2 + 15 2663 c.2659C>T c.(2659-2661)Cca>Tca p.P887S TANC2_ENST00000389520.4_Missense_Mutation_p.P887S|AC015923.1_ENST00000431604.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 887 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 AAATAATGCTCCAATTCTATG 0.443000 37 50 0 0 0.003214 0 0 LSM14B 149986 broad.mit.edu 37 20 60701364 60701364 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:60701364C>T ENST00000253001.4 + 3 502 c.296C>T c.(295-297)tCc>tTc p.S99F LSM14B_ENST00000279068.6_Missense_Mutation_p.S99F|LSM14B_ENST00000370915.1_Missense_Mutation_p.S99F Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 99 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GTTCAGTCTTCCCTGGGTTCT 0.652000 10 23 0 0 0.001368 0 0 TTC4 7268 broad.mit.edu 37 1 55197279 55197279 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:55197279C>T ENST00000371281.3 + 7 889 c.802C>T c.(802-804)Cta>Tta p.L268L TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR NM_004623.4 NP_004614.3 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 268 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 CAGGCTGAGTCTAGATGGCCA 0.547000 14 17 0 0 0.002450 0 0 MDN1 23195 broad.mit.edu 37 6 90397860 90397860 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:90397860G>A ENST00000369393.3 - 67 11407 c.11292C>T c.(11290-11292)ttC>ttT p.F3764F MDN1_ENST00000428876.1_Silent_p.F3764F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3764 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGGAAAGTGGGAAACTACGAA 0.443000 89 99 0 0 0.003610 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43937379 43937379 + Silent SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:43937379T>G ENST00000282406.4 + 13 2234 c.2124T>G c.(2122-2124)ggT>ggG p.G708G NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 708 PH 1. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAAAATCTGGTTATTTATTAA 0.353000 130 249 0 0 0.003610 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617776 77617776 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:77617776G>A ENST00000521891.2 + 2 1901 c.1453G>A c.(1453-1455)Gag>Aag p.E485K ZFHX4_ENST00000050961.6_Missense_Mutation_p.E485K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E485K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E485K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 485 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTTGATGACGAGGAAGTATT 0.423000 HNSCC(33;0.089) 9 33 0 0 0.004482 0 0 CD101 9398 broad.mit.edu 37 1 117568166 117568166 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:117568166G>A ENST00000256652.4 + 8 2522 c.2464G>A c.(2464-2466)Gaa>Aaa p.E822K CD101_ENST00000369470.1_Missense_Mutation_p.E822K|RP11-27K13.3_ENST00000445523.1_RNA NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 822 Ig-like C2-type 7. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GTACTGGACCGAAAATGTGAC 0.463000 28 54 0 0 0.004289 0 0 ATF6B 1388 broad.mit.edu 37 6 32087714 32087714 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32087714G>A ENST00000375201.4 - 9 889 c.844C>T c.(844-846)Cag>Tag p.Q282* ATF6B_ENST00000375203.3_Nonsense_Mutation_p.Q285* Q99941 ATF6B_HUMAN activating transcription factor 6 beta 285 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 ATAGCACCCTGGATGAGGACA 0.622000 192 534 0 0 0.003610 0 0 SELE 6401 broad.mit.edu 37 1 169697262 169697262 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:169697262C>T ENST00000333360.7 - 8 1355 c.1216G>A c.(1216-1218)Gga>Aga p.G406R SELE_ENST00000367776.1_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367774.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.G406R|SELE_ENST00000367777.1_Missense_Mutation_p.G406R|SELE_ENST00000367775.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 406 Sushi 4. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CTTTTGGATCCCTTCAACACA 0.473000 40 147 0 0 0.007835 0 0 MFSD6L 162387 broad.mit.edu 37 17 8702206 8702206 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:8702206G>A ENST00000329805.4 - 1 461 c.233C>T c.(232-234)gCg>gTg p.A78V NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 78 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GATCAGAAGCGCTCTCCTTTT 0.612000 24 28 0 0 0.003330 0 0 FBXO46 23403 broad.mit.edu 37 19 46216473 46216473 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:46216473G>A ENST00000317683.3 - 2 414 c.281C>T c.(280-282)cCc>cTc p.P94L NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 94 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) TGTATTCCCGGGCTTGATGAC 0.637000 17 41 0 0 0.001882 0 0 RFC1 5981 broad.mit.edu 37 4 39304682 39304682 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:39304682G>A ENST00000381897.1 - 16 2336 c.2203C>T c.(2203-2205)Cag>Tag p.Q735* RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q734* NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 735 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TGAATTACCTGAATTCCTCCC 0.428000 27 143 0 0 0.007291 0 0 IP6K1 9807 broad.mit.edu 37 3 49775748 49775748 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:49775748C>G ENST00000321599.4 - 3 632 c.331G>C c.(331-333)Gag>Cag p.E111Q IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.E111Q NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 111 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 CGAGGTTGCTCCCGTTCTGTT 0.547000 19 64 0 0 0.007413 0 0 RRP1B 23076 broad.mit.edu 37 21 45094543 45094543 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:45094543C>T ENST00000340648.4 + 5 501 c.384C>T c.(382-384)tcC>tcT p.S128S NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 128 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) TGAGGCAGTCCTTTGAAGTCT 0.343000 10 16 0 0 0.002450 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987593 50987593 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:50987593G>A ENST00000395676.2 + 1 1132 c.998G>A c.(997-999)cGg>cAg p.R333Q NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 333 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AACACCTGGCGGCCCCTGACC 0.706000 18 58 0 0 0.006122 0 0 LRRC34 151827 broad.mit.edu 37 3 169511529 169511529 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:169511529G>A ENST00000522526.2 - 10 1630 c.1193C>T c.(1192-1194)tCc>tTc p.S398F LRRC34_ENST00000522830.1_Missense_Mutation_p.S369F|LRRC34_ENST00000316515.7_Missense_Mutation_p.S385F|LRRC34_ENST00000446859.1_Missense_Mutation_p.S430F|RP11-362K14.7_ENST00000602913.1_RNA Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 385 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AAGGCCATTGGAGACTTCTGC 0.388000 22 46 0 0 0.001882 0 0 DHX16 8449 broad.mit.edu 37 6 30633412 30633412 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:30633412G>A ENST00000376442.3 - 5 960 c.765C>T c.(763-765)ttC>ttT p.F255F NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 255 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity p.F255F(1) kidney(2)|ovary(2) 4 CCCCAAAAAGGAACTCCTCAT 0.632000 13 117 0 0 0.001855 0 0 OR52B2 255725 broad.mit.edu 37 11 6191512 6191512 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:6191512G>A ENST00000530810.1 - 1 126 c.45C>T c.(43-45)gtC>gtT p.V15V RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCAGGAAGGACAAAAACTG 0.448000 14 23 0 0 0.002450 0 0 SHANK2 22941 broad.mit.edu 37 11 70336491 70336491 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:70336491G>A ENST00000338508.4 - 30 2443 c.2442_splice c.e30-1 p.S815_splice SHANK2_ENST00000409530.1_Splice_Site_p.S225_splice|SHANK2_ENST00000449833.2_Splice_Site_p.S219_splice|SHANK2_ENST00000423696.2_Splice_Site_p.S435_splice|SHANK2_ENST00000449116.2_Splice_Site_p.S216_splice|SHANK2_ENST00000357171.3_Splice_Site_p.S226_splice|SHANK2_ENST00000409161.1_Splice_Site_p.S218_splice Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 435 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTCGTACACAGACTGCAAACC 0.622000 26 271 0 0 0.001512 0 0 PCDH18 54510 broad.mit.edu 37 4 138442737 138442737 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:138442737C>T ENST00000344876.4 - 4 3240 c.2854G>A c.(2854-2856)Gaa>Aaa p.E952K PCDH18_ENST00000510305.1_Missense_Mutation_p.E163K|PCDH18_ENST00000507846.1_Missense_Mutation_p.E731K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E951K|PCDH18_ENST00000511115.1_Missense_Mutation_p.E132K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 952 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGGAATTCTTCCCCTGGAATG 0.532000 41 53 0 0 0.007835 0 0 BZRAP1 9256 broad.mit.edu 37 17 56388315 56388315 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:56388315G>A ENST00000355701.3 - 19 4211 c.3341C>T c.(3340-3342)tCt>tTt p.S1114F BZRAP1_ENST00000343736.4_Missense_Mutation_p.S1114F|BZRAP1_ENST00000268893.6_Missense_Mutation_p.S1054F NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1114 Pro-rich. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGAGAGGAGAGCTGGGGTC 0.672000 15 13 0 0 0.004990 0 0 SYT10 341359 broad.mit.edu 37 12 33579230 33579230 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:33579230C>T ENST00000228567.3 - 2 648 c.352G>A c.(352-354)Gaa>Aaa p.E118K SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 118 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTTTCATTTTCCTTAATTTCT 0.408000 40 190 0 0 0.006230 0 0 RTP4 64108 broad.mit.edu 37 3 187088772 187088772 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:187088772C>T ENST00000259030.2 + 2 462 c.352C>T c.(352-354)Ctg>Ttg p.L118L NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 118 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) TCTGAGCAACCTGGTGCAGCA 0.502000 8 29 0 0 0.004482 0 0 OR11A1 26531 broad.mit.edu 37 6 29395052 29395052 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29395052G>A ENST00000377149.1 - 5 839 c.367C>T c.(367-369)Cgc>Tgc p.R123C OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.R123C|OR11A1_ENST00000377147.2_Missense_Mutation_p.R123C Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 GCCAGGTAGCGGTCATATGCC 0.537000 17 145 0 0 0.004007 0 0 HCP5 10866 broad.mit.edu 37 6 31431899 31431899 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31431899C>T ENST00000414046.2 + 0 971 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 gtgcaaaatcccacgacaggt 0.488000 17 117 0 0 0.006122 0 0 FLG2 388698 broad.mit.edu 37 1 152324872 152324872 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:152324872C>T ENST00000388718.5 - 3 5462 c.5390G>A c.(5389-5391)gGa>gAa p.G1797E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1797 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCTTCTTCCAGTGGTCCT 0.547000 52 181 0 0 0.003610 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678675 3678675 + Missense_Mutation SNP G G A rs143548718 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:3678675G>A ENST00000344754.4 - 8 1891 c.1892C>T c.(1891-1893)cCc>cTc p.P631L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P631L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 631 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CAGCCTGGCGGGGGGGTCGCT 0.667000 8 17 0 0 0.003080 0 0 TNXB 7148 broad.mit.edu 37 6 32053871 32053871 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32053871C>T ENST00000375244.3 - 7 3005 c.2804G>A c.(2803-2805)gGg>gAg p.G935E TNXB_ENST00000375247.2_Missense_Mutation_p.G935E P22105 TENX_HUMAN tenascin XB 1028 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ATCGGTAGTCCCCAAGAGGCC 0.627000 34 393 0 0 0.006230 0 0 ARSK 153642 broad.mit.edu 37 5 94936653 94936653 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:94936653C>T ENST00000380009.4 + 7 1404 c.1199C>T c.(1198-1200)cCa>cTa p.P400L NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 400 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) AACCTGCATCCACCCTGGATT 0.418000 76 118 0 0 0.003610 0 0 INTS1 26173 broad.mit.edu 37 7 1522326 1522326 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:1522326G>A ENST00000389470.4 - 28 4044 c.4045C>T c.(4045-4047)Cag>Tag p.Q1349* INTS1_ENST00000404767.3_Nonsense_Mutation_p.Q1187* Q8N201 INT1_HUMAN integrator complex subunit 1 1187 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGCAGCGCCTGGAACTCGCTG 0.647000 26 251 0 0 0.007291 0 0 OR2J2 26707 broad.mit.edu 37 6 29141649 29141649 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:29141649C>T ENST00000377167.2 + 1 339 c.237C>T c.(235-237)atC>atT p.I79I NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CCAGCTCTATCCCTCAGTTGC 0.483000 43 251 0 0 0.007835 0 0 CACUL1 143384 broad.mit.edu 37 10 120450808 120450808 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:120450808G>A ENST00000369151.3 - 7 1477 c.994C>T c.(994-996)Caa>Taa p.Q332* CACUL1_ENST00000544392.1_5'UTR NM_153810.4 NP_722517.3 CDK2-associated, cullin domain 1 AGTTCTCTTTGAAATTTCTGA 0.388000 71 94 0 0 0.003610 0 0 TGM7 116179 broad.mit.edu 37 15 43574782 43574782 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:43574782C>T ENST00000452443.2 - 8 1045 c.1041G>A c.(1039-1041)cgG>cgA p.R347R NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 347 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GGAGATCTTTCCGGATCATCC 0.557000 6 3 0 0 0.003080 0 0 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:168100111G>A ENST00000409195.1 + 9 2298 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 562 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAATGTTTCGAAACTCAACC 0.373000 13 19 0 0 0.002450 0 0 AFF3 3899 broad.mit.edu 37 2 100167981 100167981 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:100167981G>A ENST00000317233.4 - 24 3871 c.3636C>T c.(3634-3636)tcC>tcT p.S1212S AFF3_ENST00000356421.2_Silent_p.S1237S|AFF3_ENST00000409236.1_Silent_p.S1212S|AFF3_ENST00000409579.1_Silent_p.S1237S NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1212 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GGCCCTGTTGGGAGTACTGGA 0.592000 10 17 0 0 0.000673 0 0 COL6A3 1293 broad.mit.edu 37 2 238296801 238296801 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:238296801G>A ENST00000295550.4 - 4 1188 c.736C>T c.(736-738)Ctt>Ttt p.L246F COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.L246F|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.L40F|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.L40F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L40F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 246 Nonhelical region.|VWFA 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCATCAATAAGGAAAATAATG 0.378000 17 32 0 0 0.001216 0 0 SLC11A2 4891 broad.mit.edu 37 12 51384698 51384698 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:51384698A>G ENST00000394904.3 - 15 1591 c.1542T>C c.(1540-1542)ctT>ctC p.L514L SLC11A2_ENST00000546743.1_Silent_p.L406L|SLC11A2_ENST00000545993.2_Silent_p.L481L|SLC11A2_ENST00000541174.2_Silent_p.L485L|SLC11A2_ENST00000547688.1_Silent_p.L514L|SLC11A2_ENST00000547198.1_Silent_p.L485L|SLC11A2_ENST00000262052.5_Silent_p.L485L|SLC11A2_ENST00000262051.7_Silent_p.L485L NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 485 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 AACAGATGATAAGGACCAAGA 0.463000 12 27 0 0 0.001855 0 0 TMEM225 338661 broad.mit.edu 37 11 123753985 123753985 + Missense_Mutation SNP C C T rs77654932 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:123753985C>T ENST00000375026.2 - 4 754 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 180 integral to membrane p.E180K(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TCCTTACATTCGTTGTCAGAT 0.443000 33 4 0 0 0.003755 0 0 PDS5A 23244 broad.mit.edu 37 4 39929628 39929628 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:39929628G>A ENST00000303538.8 - 3 834 c.295C>T c.(295-297)Cgt>Tgt p.R99C PDS5A_ENST00000503396.1_Missense_Mutation_p.R99C NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 99 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GCATAGATACGAAAGATATCA 0.398000 15 99 0 0 0.003163 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578376 2578376 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:2578376C>T ENST00000302956.4 + 7 951 c.857C>T c.(856-858)cCc>cTc p.P286L AMDHD2_ENST00000293971.6_Missense_Mutation_p.P286L|AMDHD2_ENST00000413459.3_Missense_Mutation_p.P286L|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 286 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 CGTGCCCATCCCCAGGGTAAG 0.662000 19 24 0 0 0.001882 0 0 ATHL1 80162 broad.mit.edu 37 11 294569 294569 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:294569C>T ENST00000409548.2 + 14 2149 c.2034C>T c.(2032-2034)tcC>tcT p.S678S ATHL1_ENST00000409479.1_Silent_p.S705S|ATHL1_ENST00000409655.1_Silent_p.S430S NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 678 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) ACAAGGTCTCCTTTCCCCGCT 0.627000 37 29 0 0 0.006230 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103194685 103194685 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:103194685C>T ENST00000375735.2 + 82 12150 c.12006C>T c.(12004-12006)atC>atT p.I4002I DYNC2H1_ENST00000398093.3_Silent_p.I4009I|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4002 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTGCCAATATCGCTCGCTCAT 0.388000 23 7 0 0 0.004656 0 0 ZNF821 55565 broad.mit.edu 37 16 71895750 71895750 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:71895750G>A ENST00000425432.1 - 7 892 c.513C>T c.(511-513)atC>atT p.I171I RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000446827.2_Silent_p.I129I|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000313565.6_Silent_p.I129I|ZNF821_ENST00000565601.1_Silent_p.I171I|ZNF821_ENST00000564134.1_Intron NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 CCTCCGAGTGGATTAAGAGGT 0.582000 25 58 0 0 0.003954 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40756656 40756656 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:40756656C>T ENST00000372759.3 + 9 1355 c.1190C>T c.(1189-1191)tCa>tTa p.S397L NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 397 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TTTATTTTTTCACCTTACAAT 0.343000 22 69 0 0 0.002780 0 0 SPATA18 132671 broad.mit.edu 37 4 52928431 52928431 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:52928431C>T ENST00000295213.4 + 4 729 c.355C>T c.(355-357)Cgg>Tgg p.R119W SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.R119W NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 119 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TCCTCGGGATCGGGATATGCA 0.383000 53 132 0 0 0.003610 0 0 CFAP54 144535 broad.mit.edu 37 12 97078989 97078989 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:97078989G>A ENST00000524981.3 + 9 1340 c.1340G>A c.(1339-1341)gGa>gAa p.G447E Q6ZTY8 CL063_HUMAN 421 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TGTTTGCAAGGAGCAGTCATA 0.507000 16 44 0 0 0.001216 0 0 ZAN 7455 broad.mit.edu 37 7 100382454 100382454 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:100382454C>T ENST00000542585.1 + 0 6977 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGGCTCCATCCCTGTGAGTGG 0.562000 8 9 0 0 0.003080 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954787 10954787 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:10954787C>T ENST00000240687.2 - 1 439 c.383G>A c.(382-384)aGg>aAg p.R128K NM_023919.2 NP_076408.1 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 128 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 GGAAATCACCCTGTCAATTCT 0.423000 12 10 0 0 0.001855 0 0 ALPK3 57538 broad.mit.edu 37 15 85400209 85400209 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:85400209C>T ENST00000258888.5 + 6 3013 c.2846C>T c.(2845-2847)cCt>cTt p.P949L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 949 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACAGCGGGTCCTAGAGCTCCT 0.557000 33 43 0 0 0.003271 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994088 143994088 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:143994088C>T ENST00000323110.2 - 8 1258 c.1256G>A c.(1255-1257)aGg>aAg p.R419K NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 419 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CCGCTCAGGCCTCGGGAACAA 0.617000 Familial Hyperaldosteronism type I 24 123 0 0 0.004656 0 0 OR8H2 390151 broad.mit.edu 37 11 55872764 55872764 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:55872764C>T ENST00000313503.1 + 1 246 c.246C>T c.(244-246)acC>acT p.T82T NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CACCTAAAACCTTAGCGAACT 0.433000 HNSCC(53;0.14) 76 478 0 0 0.003610 0 0 COBL 23242 broad.mit.edu 37 7 51258552 51258552 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:51258552C>T ENST00000395542.2 - 4 864 c.680G>A c.(679-681)aGa>aAa p.R227K COBL_ENST00000441453.1_Missense_Mutation_p.R227K|COBL_ENST00000395540.2_Missense_Mutation_p.R227K|COBL_ENST00000265136.7_Missense_Mutation_p.R227K O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 227 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTCACCTCTTCTGTTGTCCCA 0.602000 5 16 0 0 0.001984 0 0 CCND3 896 broad.mit.edu 37 6 41909260 41909260 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41909260G>A ENST00000372991.4 - 1 326 c.128C>T c.(127-129)tCc>tTc p.S43F CCND3_ENST00000511642.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000372988.4_Intron|CCND3_ENST00000414200.2_Missense_Mutation_p.S43F NM_001760.3 NP_001751.1 P30281 CCND3_HUMAN cyclin D3 43 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGAAGTAGGAGGCGCGGGG 0.721000 T IGH@ MM 6 38 0 0 0.001168 0 0 HELZ2 85441 broad.mit.edu 37 20 62195450 62195450 + Silent SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:62195450G>C ENST00000467148.1 - 8 4794 c.4725C>G c.(4723-4725)ccC>ccG p.P1575P HELZ2_ENST00000427522.2_Silent_p.P1006P NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GCAGTGACAGGGGCACCCGGT 0.711000 3 12 0 0 0.004672 0 0 C7orf31 136895 broad.mit.edu 37 7 25182418 25182418 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:25182418C>G ENST00000409280.1 - 8 1008 c.700G>C c.(700-702)Gag>Cag p.E234Q C7orf31_ENST00000283905.3_Missense_Mutation_p.E234Q Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 234 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 TTATTTTTCTCAACACCTCTG 0.383000 30 29 0 0 0.001786 0 0 STK11IP 114790 broad.mit.edu 37 2 220476456 220476456 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:220476456C>T ENST00000456909.1 + 18 2325 c.2235C>T c.(2233-2235)gtC>gtT p.V745V STK11IP_ENST00000295641.10_Silent_p.V756V Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 756 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAGCCCTGTCTGCCACCCTC 0.637000 13 16 0 0 0.001855 0 0 SSH2 85464 broad.mit.edu 37 17 27958542 27958542 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:27958542C>T ENST00000269033.3 - 15 3740 c.3589G>A c.(3589-3591)Ggg>Agg p.G1197R RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.G1224R NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1197 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTAACTCCCCAGTGTTGTCA 0.502000 34 116 0 0 0.006230 0 0 H2AFV 94239 broad.mit.edu 37 7 44880610 44880610 + Splice_Site SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:44880610A>T ENST00000222690.6 - 3 188 c.81_splice c.e3-1 p.F28_splice H2AFV_ENST00000446531.1_Splice_Site_p.F28_splice|H2AFV_ENST00000521529.1_Splice_Site_p.F2_splice|H2AFV_ENST00000381124.5_Splice_Site_p.F28_splice|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000350771.3_Splice_Site_p.F2_splice|H2AFV_ENST00000308153.4_Splice_Site_p.F28_splice|H2AFV_ENST00000349299.3_Intron NM_138635.3 NP_619541.1 Q71UI9 H2AV_HUMAN H2A histone family, member V 28 nucleosome assembly nucleosome|nucleus DNA binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 9 GCCCACAGGAAACTAAAAGAG 0.473000 45 65 0 0 0.003610 0 0 GRIA1 2890 broad.mit.edu 37 5 153175112 153175112 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:153175112G>A ENST00000340592.5 + 14 2420 c.2347G>A c.(2347-2349)Gat>Aat p.D783N GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.D793N|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518783.1_Intron NM_001114183.1|NM_001258020.1 NP_001107655.1|NP_001244949.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 783 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGGTGGTACGATAAAGGGGA 0.483000 17 22 0 0 0.007413 0 0 DHX34 9704 broad.mit.edu 37 19 47884494 47884494 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:47884494C>A ENST00000328771.4 + 16 3560 c.3211C>A c.(3211-3213)Cac>Aac p.H1071N NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1071 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GACCTGCCCCCACTGTGGCCT 0.672000 17 23 2.35188e-11 4.00461e-11 0.006122 1 0 SLIT2 9353 broad.mit.edu 37 4 20555447 20555447 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:20555447C>T ENST00000504154.1 + 26 2833 c.2581C>T c.(2581-2583)Ctt>Ttt p.L861F SLIT2_ENST00000503837.1_Missense_Mutation_p.L857F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L853F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L865F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 861 LRRCT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGCCAACCCTCTTTACTGTGA 0.463000 11 91 0 0 0.001368 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 44 2 0 0 0.003610 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598265 81598265 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:81598265G>A ENST00000356860.3 - 29 2671 c.2333C>T c.(2332-2334)tCg>tTg p.S778L CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S790L|CACNA2D1_ENST00000535308.1_Intron NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 790 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CATAATGCCCGATTCATAGGC 0.279000 43 53 0 0 0.003610 0 0 P2RX7 5027 broad.mit.edu 37 12 121605371 121605371 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:121605371C>T ENST00000328963.5 + 7 769 c.315C>T c.(313-315)ttC>ttT p.F105F P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.F185F|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000546057.1_Silent_p.F275F|P2RX7_ENST00000541446.1_Intron A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 275 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AATACAGTTTCCGTCGCCTTG 0.532000 88 260 0 0 0.003610 0 0 COL28A1 340267 broad.mit.edu 37 7 7457497 7457497 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:7457497C>T ENST00000399429.3 - 27 2269 c.2129G>A c.(2128-2130)gGa>gAa p.G710E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 710 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TACTTTAATTCCCTGTGATCC 0.463000 17 177 0 0 0.007413 0 0 SLA2 84174 broad.mit.edu 37 20 35242336 35242336 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:35242336C>T ENST00000262866.4 - 8 1141 c.719G>A c.(718-720)gGt>gAt p.G240D SLA2_ENST00000360672.2_3'UTR NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 240 SLA C-terminal. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CTCCCGGAGACCCTCACTGAG 0.542000 18 53 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9090331 9090331 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9090331G>A ENST00000397910.4 - 1 1687 c.1484C>T c.(1483-1485)tCc>tTc p.S495F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 495 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCTGTGCTGGAACTCTGCCT 0.532000 34 30 0 0 0.004289 0 0 SV2C 22987 broad.mit.edu 37 5 75428043 75428043 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:75428043C>T ENST00000502798.2 + 2 910 c.468C>T c.(466-468)ttC>ttT p.F156F SV2C_ENST00000322285.7_Silent_p.F156F NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 156 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CCCTTTTCTTCGTCCTGGGCA 0.507000 59 72 0 0 0.003610 0 0 DGKD 8527 broad.mit.edu 37 2 234355402 234355402 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:234355402C>T ENST00000264057.2 + 12 1391 c.1379C>T c.(1378-1380)tCc>tTc p.S460F DGKD_ENST00000409813.3_Missense_Mutation_p.S416F NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 460 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 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;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CGGCAGGCCTCCTCCTCTACC 0.597000 28 34 0 0 0.002096 0 0 LDHA 3939 broad.mit.edu 37 11 18421065 18421065 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:18421065C>T ENST00000422447.3 + 3 487 c.214C>T c.(214-216)Ctt>Ttt p.L72F LDHA_ENST00000396222.2_Missense_Mutation_p.L72F|LDHA_ENST00000430553.2_Missense_Mutation_p.L72F|LDHA_ENST00000540430.1_Missense_Mutation_p.L101F|LDHA_ENST00000227157.4_Missense_Mutation_p.L72F|LDHA_ENST00000379412.5_Missense_Mutation_p.L72F|LDHA_ENST00000542179.1_Missense_Mutation_p.L72F NM_001135239.1|NM_005566.3 NP_001128711.1|NP_005557.1 P00338 LDHA_HUMAN lactate dehydrogenase A 72 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) CAGCCTTTTCCTTAGAACACC 0.383000 29 33 0 0 0.003271 0 0 EXOC6B 23233 broad.mit.edu 37 2 72786608 72786608 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:72786608G>A ENST00000272427.6 - 8 1019 c.889C>T c.(889-891)Cga>Tga p.R297* EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.R297* NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 297 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TGTAGACATCGATAAACTGGA 0.368000 7 29 0 0 0.001984 0 0 FADS6 283985 broad.mit.edu 37 17 72875693 72875693 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:72875693G>A ENST00000310226.6 - 5 761 c.747C>T c.(745-747)ttC>ttT p.F249F NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 255 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) TGTCCCGGGAGAACATGGGCA 0.652000 8 18 0 0 0.006214 0 0 OR6C75 390323 broad.mit.edu 37 12 55759263 55759263 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:55759263C>T ENST00000343399.3 + 1 369 c.369C>T c.(367-369)gcC>gcT p.A123A NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GCTGCATGGCCATCTGCAAAC 0.453000 15 34 0 0 0.002450 0 0 SYT6 148281 broad.mit.edu 37 1 114636410 114636410 + Nonstop_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:114636410A>C ENST00000393296.1 - 7 1608 c.1531T>G c.(1531-1533)Tga>Gga p.*511G SYT6_ENST00000369547.1_Nonstop_Mutation_p.*426G Q5T7P8 SYT6_HUMAN synaptotagmin VI 0 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAATGAAATCACAACCGAGGG 0.453000 33 79 0 0 0.003271 0 0 SLC35C1 55343 broad.mit.edu 37 11 45832552 45832552 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:45832552C>T ENST00000314134.3 + 2 2157 c.761C>T c.(760-762)gCc>gTc p.A254V SLC35C1_ENST00000442528.2_Missense_Mutation_p.A241V|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A241V NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 254 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) GAGCTTCAGGCCCTGCGTGAC 0.637000 11 14 0 0 0.000673 0 0 HDAC3 8841 broad.mit.edu 37 5 141009682 141009682 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:141009682G>A ENST00000305264.3 - 4 371 c.292C>T c.(292-294)Ccc>Tcc p.P98S NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 98 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) AAGAGCCCGGGAAACACTGGG 0.557000 67 63 0 0 0.003610 0 0 ZNF74 7625 broad.mit.edu 37 22 20760971 20760971 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:20760971C>T ENST00000400451.2 + 5 2162 c.1648C>T c.(1648-1650)Cac>Tac p.H550Y ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.H518Y|ZNF74_ENST00000356671.5_Missense_Mutation_p.H550Y NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 550 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TCAGAAAATCCACTCCGGGGA 0.562000 18 67 0 0 0.007413 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789035 140789035 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140789035C>T ENST00000520790.1 + 1 1266 c.1266C>T c.(1264-1266)atC>atT p.I422I PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTCACCATCGTAGCCACTG 0.483000 35 45 0 0 0.004289 0 0 MIR525 574470 broad.mit.edu 37 19 54200848 54200848 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54200848C>T ENST00000384978.1 + 0 62 NR_030192.1 GAAGGCGCTTCCCTTTAGAGC 0.423000 16 54 0 0 0.007413 0 0 BSN 8927 broad.mit.edu 37 3 49691938 49691938 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:49691938G>A ENST00000296452.4 + 5 5063 c.4949G>A c.(4948-4950)gGg>gAg p.G1650E NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1650 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.G1650E(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCTGTCCCTGGGACGTCTAGG 0.642000 9 17 0 0 0.004482 0 0 GCNT3 9245 broad.mit.edu 37 15 59911093 59911093 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:59911093C>T ENST00000396065.1 + 3 1104 c.656C>T c.(655-657)cCg>cTg p.P219L GCNT3_ENST00000560585.1_Missense_Mutation_p.P219L NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 219 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGCTCAGTGCCGTGGAAATAC 0.502000 42 55 0 0 0.002222 0 0 TBX15 6913 broad.mit.edu 37 1 119428089 119428089 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:119428089G>A ENST00000369429.3 - 8 1084 c.1075C>T c.(1075-1077)Cct>Tct p.P359S TBX15_ENST00000207157.3_Missense_Mutation_p.P253S Q96SF7 TBX15_HUMAN T-box 15 359 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GAAGCCGAAGGGGATGGTGTC 0.488000 6 18 0 0 0.003080 0 0 FGD5 152273 broad.mit.edu 37 3 14964650 14964650 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:14964650A>C ENST00000285046.5 + 16 4015 c.3905A>C c.(3904-3906)aAg>aCg p.K1302T FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.K1061T NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1302 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GAGCTGAAGAAGCGGGGCAGG 0.617000 9 22 0 0 0.006214 0 0 TSC2 7249 broad.mit.edu 37 16 2131601 2131601 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:2131601A>G ENST00000219476.3 + 31 4246 c.3616A>G c.(3616-3618)Acc>Gcc p.T1206A TSC2_ENST00000353929.4_Missense_Mutation_p.T1163A|TSC2_ENST00000568454.1_Missense_Mutation_p.T1173A|TSC2_ENST00000382538.6_Missense_Mutation_p.T1114A|TSC2_ENST00000401874.2_Missense_Mutation_p.T1162A|TSC2_ENST00000439673.2_Missense_Mutation_p.T1126A|TSC2_ENST00000350773.4_Missense_Mutation_p.T1206A NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1206 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CGCAGGGAACACCAGCTGGCT 0.647000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 25 44 0 0 0.003954 0 0 OR6K3 391114 broad.mit.edu 37 1 158686981 158686981 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:158686981C>T ENST00000368146.1 - 1 972 c.973G>A c.(973-975)Gtg>Atg p.V325M OR6K3_ENST00000368145.1_Missense_Mutation_p.V309M Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 325 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TTGTTCAACACTTTTTGAAGA 0.393000 24 121 0 0 0.007291 0 0 PC 5091 broad.mit.edu 37 11 66617702 66617702 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:66617702C>T ENST00000393960.1 - 19 2988 c.2707G>A c.(2707-2709)Gat>Aat p.D903N PC_ENST00000393958.2_Missense_Mutation_p.D903N|PC_ENST00000529047.1_Missense_Mutation_p.D23N|PC_ENST00000393955.2_Missense_Mutation_p.D903N NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 903 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TTGATGAGATCGCCCAGCATC 0.617000 21 41 0 0 0.002299 0 0 CDH6 1004 broad.mit.edu 37 5 31305295 31305295 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:31305295A>G ENST00000265071.2 + 7 1279 c.1014A>G c.(1012-1014)gaA>gaG p.E338E CDH6_ENST00000514738.1_Silent_p.E283E NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 338 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGGACTTTGAAAAGAAGAAAG 0.433000 23 87 0 0 0.003954 0 0 ZEB1 6935 broad.mit.edu 37 10 31810768 31810768 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:31810768G>A ENST00000446923.2 + 7 2848 c.2457G>A c.(2455-2457)acG>acA p.T819T ZEB1_ENST00000542815.3_Silent_p.T768T|ZEB1_ENST00000560721.2_Silent_p.T815T|ZEB1_ENST00000320985.10_Silent_p.T835T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.T836T NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 835 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ATAAGCAAACGATTCTGATTC 0.498000 23 26 0 0 0.004656 0 0 ACOX3 8310 broad.mit.edu 37 4 8383293 8383293 + Nonsense_Mutation SNP G G A rs146945288 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:8383293G>A ENST00000356406.5 - 14 1656 c.1579C>T c.(1579-1581)Cga>Tga p.R527* ACOX3_ENST00000413009.2_Nonsense_Mutation_p.R527*|ACOX3_ENST00000503233.1_Nonsense_Mutation_p.R527* NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 527 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 TAAGTCTCTCGGAGCAGGTAG 0.408000 32 159 0 0 0.002836 0 0 ABCA8 10351 broad.mit.edu 37 17 66925360 66925360 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:66925360A>G ENST00000269080.2 - 8 1092 c.955T>C c.(955-957)Tta>Cta p.L319L ABCA8_ENST00000586539.1_Silent_p.L319L|ABCA8_ENST00000430352.2_Silent_p.L319L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 319 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ATGCTCATTAAGAAAGCCAAA 0.373000 17 17 0 0 0.004990 0 0 AADACL3 126767 broad.mit.edu 37 1 12785820 12785820 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:12785820G>A ENST00000332530.3 + 3 926 c.700G>A c.(700-702)Gaa>Aaa p.E234K AADACL3_ENST00000359318.5_Missense_Mutation_p.E304K NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 304 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GAAAAGGCTGGAAGACCTGGG 0.517000 21 62 0 0 0.001523 0 0 HERPUD1 9709 broad.mit.edu 37 16 56973251 56973251 + Silent SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:56973251A>T ENST00000439977.2 + 5 731 c.534A>T c.(532-534)gcA>gcT p.A178A HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000379792.2_Silent_p.A153A|HERPUD1_ENST00000300302.5_Silent_p.A177A NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 178 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 AGATATATGCACGACAGTACT 0.527000 T ERG prostate 48 114 0 0 0.003610 0 0 APRT 353 broad.mit.edu 37 16 88876249 88876249 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:88876249C>T ENST00000378364.3 - 5 445 c.e5-1 APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Splice_Site NM_000485.2 NP_000476.1 P07741 APT_HUMAN adenine phosphoribosyltransferase purine ribonucleoside salvage cytosol|nucleus adenine phosphoribosyltransferase activity|AMP binding|protein binding cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) TTCATGGTTCCTGGGGATGGG 0.662000 7 21 0 0 0.001984 0 0 STON2 85439 broad.mit.edu 37 14 81837529 81837529 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:81837529G>A ENST00000555447.1 - 5 786 c.373_splice c.e5-1 p.A125_splice STON2_ENST00000267540.2_Splice_Site_p.A125_splice NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 125 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CAATGGTAGGGCTGGGGAGAG 0.448000 22 39 0 0 0.001523 0 0 DOCK9 23348 broad.mit.edu 37 13 99575589 99575589 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:99575589G>A ENST00000376460.1 - 5 533 c.453C>T c.(451-453)gtC>gtT p.V151V DOCK9_ENST00000442173.1_Silent_p.V151V|DOCK9_ENST00000339416.2_Silent_p.V152V|DOCK9_ENST00000448493.2_Silent_p.V163V NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 152 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAACTTCATAGACATGAACTG 0.373000 31 71 0 0 0.005524 0 0 TRIM21 6737 broad.mit.edu 37 11 4410955 4410955 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:4410955C>T ENST00000254436.7 - 3 545 c.433G>A c.(433-435)Gaa>Aaa p.E145K TRIM21_ENST00000543625.1_Missense_Mutation_p.E145K NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 145 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CTTCTCAGTTCCCCTAATGCC 0.463000 53 49 0 0 0.003610 0 0 DNMT3L 29947 broad.mit.edu 37 21 45681098 45681098 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:45681098C>T ENST00000270172.3 - 2 528 c.45G>A c.(43-45)atG>atA p.M15I DNMT3L_ENST00000418993.1_Missense_Mutation_p.M15I NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 15 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) AAATCACGTCCATGCTGGGCT 0.597000 24 40 0 0 0.003330 0 0 MUC16 94025 broad.mit.edu 37 19 9062833 9062833 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9062833C>T ENST00000397910.4 - 3 24816 c.24613G>A c.(24613-24615)Gat>Aat p.D8205N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8207 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGGAGGATCTGTTTGTGTC 0.468000 16 18 0 0 0.007413 0 0 GBP2 2634 broad.mit.edu 37 1 89582871 89582871 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:89582871G>A ENST00000370466.3 - 6 940 c.672C>T c.(670-672)atC>atT p.I224I GBP2_ENST00000463660.1_5'UTR NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 224 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) AGAACTTTCGGATGCACAACC 0.403000 16 26 0 0 0.007413 0 0 SEC24B 10427 broad.mit.edu 37 4 110447419 110447419 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:110447419C>T ENST00000265175.5 + 17 2884 c.2829C>T c.(2827-2829)gtC>gtT p.V943V SEC24B_ENST00000399100.2_Silent_p.V908V|SEC24B_ENST00000504968.2_Silent_p.V973V NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 943 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ACTTCTTTGTCCGTTCTACTG 0.353000 42 72 0 0 0.002852 0 0 F5 2153 broad.mit.edu 37 1 169484697 169484697 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:169484697G>A ENST00000367796.3 - 24 6729 c.6528C>T c.(6526-6528)tcC>tcT p.S2176S F5_ENST00000367797.3_Silent_p.S2171S|F5_ENST00000495481.1_5'UTR P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2171 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCACCATGGAGGATTTCAGCC 0.438000 210 114 0 0 0.003610 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927012 43927012 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:43927012C>T ENST00000282406.4 + 8 1025 c.915C>T c.(913-915)acC>acT p.T305T NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 305 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCACATCCACCCTCTCCAGTC 0.512000 106 248 0 0 0.003610 0 0 OR5H2 79310 broad.mit.edu 37 3 98002015 98002015 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:98002015G>A ENST00000355273.2 + 1 284 c.284G>A c.(283-285)aGg>aAg p.R95K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GCCAAAAACAGGATGATATCT 0.373000 49 105 0 0 0.003610 0 0 KLRC2 3822 broad.mit.edu 37 12 10587971 10587971 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:10587971G>A ENST00000381902.2 - 2 232 c.226C>T c.(226-228)Cta>Tta p.L76L KLRC2_ENST00000536833.2_Silent_p.L17L|KLRC2_ENST00000381901.1_Silent_p.L76L|NKG2-E_ENST00000539033.1_Silent_p.L76L NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 76 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 ATGATTCCTAGGACCTCGGCA 0.423000 44 77 0 0 0.003610 0 0 POLR2E 5434 broad.mit.edu 37 19 1091854 1091854 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:1091854C>T ENST00000215587.7 - 3 568 c.285G>A c.(283-285)caG>caA p.Q95Q POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Silent_p.Q95Q P19388 RPAB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide E, 25kDa 95 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2) 11 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) TGTTCTCCTCCTGCATGCGCT 0.662000 24 27 0 0 0.003954 0 0 RIF1 55183 broad.mit.edu 37 2 152308153 152308153 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:152308153A>G ENST00000243326.4 + 20 2761 c.2278A>G c.(2278-2280)Att>Gtt p.I760V RIF1_ENST00000428287.2_Missense_Mutation_p.I760V|RIF1_ENST00000453091.2_Missense_Mutation_p.I760V|RIF1_ENST00000430328.2_Missense_Mutation_p.I760V|RIF1_ENST00000444746.2_Missense_Mutation_p.I760V Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 760 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TATTTATATTATTACTGTAAT 0.303000 29 19 0 0 0.002096 0 0 KRT83 3889 broad.mit.edu 37 12 52715036 52715036 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52715036G>A ENST00000293670.3 - 1 146 c.84C>T c.(82-84)agC>agT p.S28S NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 28 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGCAGCAGCGGCTTGGCCGGG 0.682000 23 77 0 0 0.002780 0 0 POTEH 23784 broad.mit.edu 37 22 16267071 16267071 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:16267071C>T ENST00000343518.6 - 9 1429 c.1378G>A c.(1378-1380)Gga>Aga p.G460R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 460 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TGAGTACTTCCGTGCTTCTTC 0.363000 25 219 0 0 0.001786 0 0 C11orf63 79864 broad.mit.edu 37 11 122817290 122817290 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:122817290A>G ENST00000227349.2 + 6 2016 c.1719A>G c.(1717-1719)caA>caG p.Q573Q C11orf63_ENST00000531316.1_Silent_p.Q573Q NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 573 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AGCATCAGCAAGCCTTGGTGC 0.488000 27 2 0 0 0.003954 0 0 CSMD3 114788 broad.mit.edu 37 8 113364645 113364645 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:113364645C>T ENST00000297405.5 - 39 6499 c.6255_splice c.e39+1 p.Q2085_splice CSMD3_ENST00000352409.3_Splice_Site_p.Q2015_splice|CSMD3_ENST00000343508.3_Splice_Site_p.Q2045_splice|CSMD3_ENST00000455883.2_Splice_Site_p.Q1981_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2085 Sushi 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATAGACTTACCTGAAGAGAAT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 94 0 0 0.004990 0 0 HTRA4 203100 broad.mit.edu 37 8 38832575 38832575 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:38832575G>A ENST00000302495.4 + 2 592 c.492G>A c.(490-492)agG>agA p.R164R NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 164 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GCCCGCTCAGGAGGAATTACA 0.547000 49 166 0 0 0.003610 0 0 EML4 27436 broad.mit.edu 37 2 42531667 42531667 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:42531667T>G ENST00000318522.5 + 17 2205 c.1943T>G c.(1942-1944)gTg>gGg p.V648G EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.V590G|EML4_ENST00000401738.3_Missense_Mutation_p.V659G NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 648 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GGCACAGTGGTGGCCATAGGA 0.468000 T ALK NSCLC 54 46 0 0 0.003610 0 0 MVD 4597 broad.mit.edu 37 16 88719738 88719738 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:88719738G>A ENST00000301012.3 - 9 1121 c.1092C>T c.(1090-1092)ccC>ccT p.P364P NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 364 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) TGACCCCACCGGGGGTCGGCT 0.667000 9 14 0 0 0.000673 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182491 57182491 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:57182491C>T ENST00000504228.1 + 6 2928 c.2823C>T c.(2821-2823)agC>agT p.S941S KIAA1211_ENST00000541073.1_Silent_p.S934S|KIAA1211_ENST00000264229.6_Silent_p.S941S Q6ZU35 K1211_HUMAN KIAA1211 941 Pro-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CGGCCAGCAGCCAGACCCCGG 0.647000 6 30 0 0 0.001168 0 0 NOTCH4 4855 broad.mit.edu 37 6 32187406 32187406 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32187406C>T ENST00000375023.3 - 8 1611 c.1473G>A c.(1471-1473)ctG>ctA p.L491L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 491 EGF-like 12; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CAAGTAGGTCCAGACAGGTGC 0.592000 64 504 0 0 0.003610 0 0 ZHX3 23051 broad.mit.edu 37 20 39830930 39830930 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:39830930G>A ENST00000309060.3 - 4 3042 c.2627C>T c.(2626-2628)tCc>tTc p.S876F ZHX3_ENST00000432768.2_Missense_Mutation_p.S876F|ZHX3_ENST00000559234.1_Missense_Mutation_p.S876F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.S876F|ZHX3_ENST00000540170.1_Missense_Mutation_p.S876F|ZHX3_ENST00000544979.2_Missense_Mutation_p.S876F Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 876 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) GACCTGCTGGGAGCTCATCTG 0.577000 45 120 0 0 0.002522 0 0 ZNF681 148213 broad.mit.edu 37 19 23926506 23926506 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:23926506T>A ENST00000402377.3 - 4 1987 c.1846A>T c.(1846-1848)Aaa>Taa p.K616* ZNF681_ENST00000395385.3_Nonsense_Mutation_p.K547* NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTGTAGAGTTTCTCACCAGTA 0.328000 5 4 0 0 0.000602 0 0 PXDN 7837 broad.mit.edu 37 2 1653160 1653160 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:1653160C>T ENST00000252804.4 - 17 2442 c.2392G>A c.(2392-2394)Gtg>Atg p.V798M NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 798 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GTGGTGGACACCAGGCGCGGC 0.637000 17 52 0 0 0.004990 0 0 UBR2 23304 broad.mit.edu 37 6 42582840 42582840 + Silent SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:42582840T>C ENST00000372899.1 + 9 1275 c.1017T>C c.(1015-1017)ggT>ggC p.G339G UBR2_ENST00000372903.2_Silent_p.G339G|UBR2_ENST00000372901.1_Silent_p.G339G NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 339 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTCAAGTTGGTTTACAAGAAG 0.353000 39 139 0 0 0.003214 0 0 EI24 9538 broad.mit.edu 37 11 125448111 125448111 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:125448111C>T ENST00000278903.6 + 6 641 c.399C>T c.(397-399)ccC>ccT p.P133P STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Silent_p.P133P|EI24_ENST00000530985.1_3'UTR NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 133 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) GGGTGCTCCCCTTGTTTGTGC 0.498000 50 60 0 0 0.003610 0 0 ZNF470 388566 broad.mit.edu 37 19 57088341 57088341 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57088341C>T ENST00000330619.8 + 6 1230 c.544C>T c.(544-546)Cat>Tat p.H182Y ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.H182Y NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) GACAGTTTTTCATCTGAATAC 0.303000 16 37 0 0 0.003163 0 0 PLOD1 5351 broad.mit.edu 37 1 12017929 12017929 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:12017929C>T ENST00000196061.4 + 8 799 c.772C>T c.(772-774)Ccg>Tcg p.P258S PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.P305S NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 258 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CAACTACATCCCGCGCTTCTG 0.627000 16 77 0 0 0.001882 0 0 ABCG1 9619 broad.mit.edu 37 21 43711712 43711712 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:43711712C>T ENST00000398437.1 + 14 2221 c.2073C>T c.(2071-2073)tcC>tcT p.S691S ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.S544S|ABCG1_ENST00000361802.2_Silent_p.S545S|ABCG1_ENST00000347800.2_Silent_p.S530S|ABCG1_ENST00000340588.4_Silent_p.S653S|ABCG1_ENST00000398449.3_Silent_p.S533S|ABCG1_ENST00000398457.2_Silent_p.S535S P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 545 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) CCATGACCTCCCTGGTGGCAC 0.662000 7 9 0 0 0.001984 0 0 FTSJ2 29960 broad.mit.edu 37 7 2274925 2274925 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:2274925G>A ENST00000242257.8 - 3 601 c.573C>T c.(571-573)ttC>ttT p.F191F FTSJ2_ENST00000407040.1_Silent_p.F97F|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 191 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TTTTACAAAGGAATGTCCCCC 0.542000 13 153 0 0 0.002450 0 0 ATP2B1 490 broad.mit.edu 37 12 90010769 90010769 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:90010769G>A ENST00000428670.3 - 12 2333 c.1877C>T c.(1876-1878)cCa>cTa p.P626L ATP2B1_ENST00000348959.3_Missense_Mutation_p.P626L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.P626L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.P369L|ATP2B1_ENST00000261173.2_Missense_Mutation_p.P626L P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 626 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 ACGGTCCCTTGGTCTGAATAC 0.358000 27 83 0 0 0.004656 0 0 DENND4C 55667 broad.mit.edu 37 9 19342634 19342634 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:19342634T>G ENST00000307015.9 + 18 2333 c.581T>G c.(580-582)gTg>gGg p.V194G DENND4C_ENST00000602925.1_Missense_Mutation_p.V954G|DENND4C_ENST00000434457.2_Missense_Mutation_p.V1003G|DENND4C_ENST00000380432.2_Missense_Mutation_p.V718G|DENND4C_ENST00000540671.1_Missense_Mutation_p.V48G Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 718 DENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TTTCCAGAGGTGTGTGATGCC 0.378000 27 33 0 0 0.001512 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561714 11561714 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:11561714G>A ENST00000294484.6 + 2 803 c.665G>A c.(664-666)cGa>cAa p.R222Q PTCHD2_ENST00000389575.3_Missense_Mutation_p.R222Q NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 222 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.R439Q(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GAAGACCCGCGAAACCAGCGG 0.692000 5 19 0 0 0.001168 0 0 DNAL1 83544 broad.mit.edu 37 14 74125555 74125555 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:74125555G>A ENST00000553645.1 + 3 89 c.48G>A c.(46-48)gaG>gaA p.E16E DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000540526.1_5'UTR|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_5'UTR NM_031427.3 NP_113615.2 Q4LDG9 DNAL1_HUMAN dynein, axonemal, light chain 1 16 kidney(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) CATAGGAAGAGAAAACTGGCC 0.393000 44 69 0 0 0.001951 0 0 GPR148 344561 broad.mit.edu 37 2 131487717 131487717 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:131487717C>T ENST00000309926.4 + 1 1075 c.993C>T c.(991-993)gtC>gtT p.V331V NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 331 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) TGGGCATGGTCCGGGGCCACC 0.547000 7 14 0 0 0.001984 0 0 ACTL9 284382 broad.mit.edu 37 19 8808449 8808449 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:8808449C>A ENST00000324436.3 - 1 723 c.603G>T c.(601-603)ggG>ggT p.G201G NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 201 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TGTAGGTGACCCCGTGTCCCG 0.667000 11 18 1.58986e-06 2.70243e-06 0.000673 1 0 NOTCH4 4855 broad.mit.edu 37 6 32185012 32185012 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32185012G>A ENST00000375023.3 - 10 1794 c.1656C>T c.(1654-1656)atC>atT p.I552I NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 552 EGF-like 14; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TGCACTCATCGATATCCTCCT 0.622000 78 418 0 0 0.003610 0 0 OR8J1 219477 broad.mit.edu 37 11 56128658 56128658 + Silent SNP C C T rs148720229 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:56128658C>T ENST00000303039.3 + 1 968 c.936C>T c.(934-936)tcC>tcT p.S312S NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S312S(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TGTGCTATTCCTTTAAAACAA 0.353000 12 105 0 0 0.000978 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244873 1244873 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:1244873C>T ENST00000581398.1 + 0 827 CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA NR_033339.1 TCCATGGCCTCCGTCTACACA 0.587000 9 73 0 0 0.000978 0 0 C6orf15 29113 broad.mit.edu 37 6 31079679 31079679 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31079679C>T ENST00000259870.3 - 2 460 c.457G>A c.(457-459)Ggg>Agg p.G153R NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 153 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GAAGACTCCCCAGGCAAAGGG 0.647000 17 134 0 0 0.004990 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080341 57080341 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57080341G>A ENST00000532437.1 - 4 2132 c.1821C>T c.(1819-1821)acC>acT p.T607T TNKS1BP1_ENST00000358252.3_Silent_p.T607T Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 607 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTGCCTCCCTGGTAGCCAGGG 0.637000 20 65 0 0 0.002780 0 0 ATP10D 57205 broad.mit.edu 37 4 47527602 47527602 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:47527602C>T ENST00000273859.3 + 5 988 c.719C>T c.(718-720)tCc>tTc p.S240F ATP10D_ENST00000504445.1_Missense_Mutation_p.S240F NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 240 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GAGAAGTTTTCCAGTAGGATA 0.353000 10 73 0 0 0.006214 0 0 ICK 22858 broad.mit.edu 37 6 52869951 52869951 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:52869951C>T ENST00000356971.3 - 15 2384 c.1895G>A c.(1894-1896)cGa>cAa p.R632Q ICK_ENST00000350082.5_Missense_Mutation_p.R632Q NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 632 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) AGACAGTCATCGCCGAGATGC 0.567000 27 161 0 0 0.001786 0 0 NOS1 4842 broad.mit.edu 37 12 117768218 117768218 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:117768218C>T ENST00000317775.6 - 2 1342 c.657G>A c.(655-657)ggG>ggA p.G219G NOS1_ENST00000344089.3_Silent_p.G219G|NOS1_ENST00000338101.4_Silent_p.G219G NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 219 PIN (nNOS-inhibiting protein) binding. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCCCTCTGCTCCCACTGGTGA 0.567000 45 95 0 0 0.003610 0 0 GXYLT2 727936 broad.mit.edu 37 3 73006469 73006469 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:73006469G>A ENST00000389617.4 + 5 1103 c.942G>A c.(940-942)caG>caA p.Q314Q NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 314 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 GGGGAGACCAGGatttattaa 0.443000 8 22 0 0 0.004482 0 0 DICER1 23405 broad.mit.edu 37 14 95570308 95570308 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:95570308G>A ENST00000526495.1 - 23 3716 c.3425C>T c.(3424-3426)tCt>tTt p.S1142F DICER1_ENST00000393063.1_Missense_Mutation_p.S1142F|DICER1_ENST00000556045.1_Missense_Mutation_p.S40F|DICER1_ENST00000343455.3_Missense_Mutation_p.S1142F|DICER1_ENST00000541352.1_Missense_Mutation_p.S1142F|DICER1_ENST00000527414.1_Missense_Mutation_p.S1142F Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1142 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ATTTTCTAGAGAGGAGGTTCT 0.423000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 16 23 0 0 0.003163 0 0 DSP 1832 broad.mit.edu 37 6 7579632 7579632 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:7579632C>T ENST00000379802.3 + 23 3550 c.3209C>T c.(3208-3210)tCc>tTc p.S1070F DSP_ENST00000418664.2_Missense_Mutation_p.S1070F NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1070 Central fibrous rod domain. 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) GCAGAGTGTTCCCAGTTCAAA 0.507000 24 100 0 0 0.003954 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25753503 25753503 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:25753503C>T ENST00000586223.1 + 0 1513 NR_033892.1 TCGGGCTCACCCCGTGCCTGT 0.567000 26 10 0 0 0.001786 0 0 PTPN14 5784 broad.mit.edu 37 1 214556883 214556883 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:214556883G>A ENST00000366956.5 - 13 2509 c.2315C>T c.(2314-2316)cCt>cTt p.P772L PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 772 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CATGGCGGGAGGAAGGCTGGC 0.682000 7 43 0 0 0.003080 0 0 MAVS 57506 broad.mit.edu 37 20 3846674 3846674 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:3846674C>T ENST00000428216.2 + 7 1631 c.1503C>T c.(1501-1503)ttC>ttT p.F501F MAVS_ENST00000416600.2_Silent_p.F360F|MAVS_ENST00000358134.6_3'UTR NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 501 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 ACCGGAAGTTCCAGGAGAGGG 0.672000 13 43 0 0 0.001855 0 0 PSG5 5673 broad.mit.edu 37 19 43683301 43683301 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:43683301G>A ENST00000599812.1 - 3 534 c.439C>T c.(439-441)Ccc>Tcc p.P147S PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 147 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GAGGGCTTGGGAGTTTCCACT 0.507000 48 118 0 0 0.003610 0 0 CD163 9332 broad.mit.edu 37 12 7653749 7653749 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:7653749C>T ENST00000359156.4 - 3 645 c.443G>A c.(442-444)gGa>gAa p.G148E CD163_ENST00000541972.1_Missense_Mutation_p.G136E|CD163_ENST00000432237.2_Missense_Mutation_p.G148E|CD163_ENST00000396620.3_Missense_Mutation_p.G148E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 148 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCAGGTCACTCCAGCATCTTG 0.423000 56 105 0 0 0.003610 0 0 COL23A1 91522 broad.mit.edu 37 5 177683400 177683400 + Splice_Site SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:177683400T>G ENST00000390654.3 - 15 1195 c.e15-2 COL23A1_ENST00000407622.1_Splice_Site NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) AGGCTCCCCCTGTGGAGACAT 0.672000 13 19 0 0 0.006122 0 0 NLRP8 126205 broad.mit.edu 37 19 56467422 56467422 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:56467422C>T ENST00000291971.3 + 3 2069 c.1998C>T c.(1996-1998)ttC>ttT p.F666F NLRP8_ENST00000590542.1_Silent_p.F666F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 666 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCCTGAACTTCATGAACGTGT 0.517000 21 64 0 0 0.001523 0 0 SLC7A9 11136 broad.mit.edu 37 19 33359359 33359359 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:33359359T>G ENST00000023064.4 - 2 273 c.82A>C c.(82-84)Aag>Cag p.K28Q SLC7A9_ENST00000587772.1_Missense_Mutation_p.K28Q|SLC7A9_ENST00000590341.1_Missense_Mutation_p.K28Q NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 28 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CTTACCTCCTTTTGGAGACTG 0.592000 6 44 0 0 0.003080 0 0 SLC9A2 6549 broad.mit.edu 37 2 103311508 103311508 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:103311508G>A ENST00000233969.2 + 7 1664 c.1522G>A c.(1522-1524)Gat>Aat p.D508N SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 508 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTAGTTGTTTGATCATGTGAA 0.363000 32 46 0 0 0.001786 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074685 143074685 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:143074685G>A ENST00000367603.2 - 10 7642 c.6900C>T c.(6898-6900)tcC>tcT p.S2300S HIVEP2_ENST00000012134.2_Silent_p.S2300S|HIVEP2_ENST00000367604.1_Silent_p.S2300S|RP1-67K17.3_ENST00000437067.1_RNA NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GCCGAGGAGAGGAGGGAGTGC 0.517000 23 40 0 0 0.004656 0 0 WBP11P1 441818 broad.mit.edu 37 18 30091802 30091802 + RNA SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:30091802T>G ENST00000567636.1 + 0 177 NR_003558.1 AATGAACAAGTAAACCATACA 0.438000 25 25 0 0 0.003330 0 0 RALBP1 10928 broad.mit.edu 37 18 9533743 9533743 + Silent SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:9533743C>A ENST00000019317.4 + 9 1843 c.1620C>A c.(1618-1620)tcC>tcA p.S540S RALBP1_ENST00000383432.3_Silent_p.S540S Q15311 RBP1_HUMAN ralA binding protein 1 540 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 AGTACTCCTCCGAGAGCGAGA 0.527000 25 53 2.24059e-21 3.83337e-21 0.006320 1 0 TMEM52B 120939 broad.mit.edu 37 12 10339122 10339122 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:10339122C>T ENST00000298530.3 + 3 759 c.181C>T c.(181-183)Cca>Tca p.P61S TMEM52B_ENST00000536952.1_Missense_Mutation_p.P81S|TMEM52B_ENST00000381923.2_Missense_Mutation_p.P81S NM_153022.2 NP_694567.1 transmembrane protein 52B AGATGGGGGCCCACCACCCTG 0.562000 29 38 0 0 0.006320 0 0 TFEB 7942 broad.mit.edu 37 6 41654886 41654886 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41654886T>C ENST00000394283.1 - 7 1975 c.749A>G c.(748-750)aAc>aGc p.N250S TFEB_ENST00000403298.4_Missense_Mutation_p.N250S|TFEB_ENST00000358871.2_Missense_Mutation_p.N264S|TFEB_ENST00000420312.1_Missense_Mutation_p.N165S|TFEB_ENST00000230323.4_Missense_Mutation_p.N250S|TFEB_ENST00000373033.1_Missense_Mutation_p.N250S P19484 TFEB_HUMAN transcription factor EB 250 Helix-loop-helix motif. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GTCATTGATGTTGAACCTTCG 0.557000 T ALPHA renal (childhood epithelioid) 12 80 0 0 0.003163 0 0 ATF6B 1388 broad.mit.edu 37 6 32093947 32093947 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32093947G>A ENST00000375201.4 - 5 461 c.416C>T c.(415-417)tCc>tTc p.S139F ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Missense_Mutation_p.S142F Q99941 ATF6B_HUMAN activating transcription factor 6 beta 142 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TTCAAATGAGGATGTTGGGTC 0.532000 200 1073 0 0 0.003610 0 0 ZNF496 84838 broad.mit.edu 37 1 247463992 247463992 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:247463992G>A ENST00000294753.4 - 9 2057 c.1593C>T c.(1591-1593)ttC>ttT p.F531F ZNF496_ENST00000366498.2_Silent_p.F567F|ZNF496_ENST00000462139.1_5'UTR NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 531 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CGTGCCGCTGGAAGGCCTTCC 0.627000 88 38 0 0 0.003610 0 0 CDH1 999 broad.mit.edu 37 16 68847364 68847364 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:68847364C>T ENST00000261769.5 + 9 1477 c.1286C>T c.(1285-1287)cCa>cTa p.P429L CDH1_ENST00000422392.2_Intron|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 429 Cadherin 3. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.Y380_K440del(2)|p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) ACCACAAATCCAGTGAACAAC 0.473000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 52 165 0 0 0.003610 0 0 OS9 10956 broad.mit.edu 37 12 58113946 58113946 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:58113946G>A ENST00000315970.7 + 13 1706 c.1665G>A c.(1663-1665)caG>caA p.Q555Q OS9_ENST00000413095.2_Intron|OS9_ENST00000389142.5_Intron|OS9_ENST00000551035.1_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000389146.6_Silent_p.Q540Q|OS9_ENST00000439210.2_Intron|OS9_ENST00000552285.1_Intron NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 555 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GCCCTAATCAGGATCTGACTG 0.577000 46 71 0 0 0.003214 0 0 P2RX7 5027 broad.mit.edu 37 12 121605372 121605372 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:121605372C>T ENST00000328963.5 + 7 770 c.316C>T c.(316-318)Cgt>Tgt p.R106C P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.R186C|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000546057.1_Missense_Mutation_p.R276C|P2RX7_ENST00000541446.1_Intron A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 276 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATACAGTTTCCGTCGCCTTGA 0.527000 88 257 0 0 0.003610 0 0 PEG3 5178 broad.mit.edu 37 19 57334191 57334191 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57334191C>T ENST00000326441.9 - 6 858 c.495G>A c.(493-495)tgG>tgA p.W165* ZIM2_ENST00000593931.1_Nonsense_Mutation_p.W40*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.W39*|PEG3_ENST00000423103.2_Nonsense_Mutation_p.W165*|ZIM2_ENST00000599935.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000593711.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000601070.1_Nonsense_Mutation_p.W40*|ZIM2_ENST00000391708.3_Nonsense_Mutation_p.W40*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.W40*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.W40* NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 165 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCCTCCGGTCCCAGTCCCGGT 0.537000 10 9 0 0 0.006214 0 0 KCNH3 23416 broad.mit.edu 37 12 49951630 49951630 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:49951630G>A ENST00000257981.6 + 15 3406 c.3146G>A c.(3145-3147)gGg>gAg p.G1049E NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 1049 Pro-rich. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CCAGGGTCAGGGGGCCTGGCC 0.667000 6 25 0 0 0.003080 0 0 COL28A1 340267 broad.mit.edu 37 7 7472283 7472283 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:7472283C>T ENST00000399429.3 - 24 2049 c.1909G>A c.(1909-1911)Gat>Aat p.D637N NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 637 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GGATAGCCATCACCTTTGAGT 0.493000 15 272 0 0 0.006122 0 0 KRT6C 286887 broad.mit.edu 37 12 52864331 52864331 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52864331C>T ENST00000252250.6 - 6 1208 c.1161G>A c.(1159-1161)atG>atA p.M387I NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 387 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GCCTCTGGATCATGCGGTTGA 0.547000 24 77 0 0 0.005443 0 0 MARCH11 441061 broad.mit.edu 37 5 16091132 16091132 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:16091132C>T ENST00000332432.8 - 3 951 c.752G>A c.(751-753)gGa>gAa p.G251E MARCH11_ENST00000505509.1_5'UTR NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 251 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 GAACAGGGATCCTAGGATTAC 0.443000 13 9 0 0 0.001368 0 0 HMGXB4 10042 broad.mit.edu 37 22 35661516 35661516 + Missense_Mutation SNP C C T rs28522155 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:35661516C>T ENST00000216106.5 + 5 1263 c.1135C>T c.(1135-1137)Cct>Tct p.P379S HMGXB4_ENST00000444518.2_Missense_Mutation_p.P270S NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 379 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTGCCACTTCCTGGCCTCCA 0.498000 15 40 0 0 0.003163 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113208409 113208409 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:113208409G>A ENST00000261965.3 - 8 1114 c.928C>T c.(928-930)Cag>Tag p.Q310* TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Q310* NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 310 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) AGGCTCCTCTGGTCCGTGTAT 0.483000 23 48 0 0 0.003330 0 0 ZNF676 163223 broad.mit.edu 37 19 22363614 22363614 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:22363614A>G ENST00000397121.2 - 3 1222 c.905T>C c.(904-906)aTt>aCt p.I302T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCCAGTATGAATTCTCTTATG 0.428000 17 33 0 0 0.001523 0 0 KAAG1 353219 broad.mit.edu 37 6 24358102 24358102 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:24358102C>T ENST00000274766.1 + 1 972 c.235C>T c.(235-237)Cca>Tca p.P79S DCDC2_ENST00000378454.3_5'UTR NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 79 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 ACTGACGAATCCACAGGTGAA 0.622000 12 48 0 0 0.002450 0 0 LRP5 4041 broad.mit.edu 37 11 68115509 68115509 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:68115509G>A ENST00000294304.7 + 2 392 c.286G>A c.(286-288)Ggg>Agg p.G96R NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 96 Beta-propeller 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAACCAGACGGGGGCCGCCGT 0.637000 73 91 0 0 0.003610 0 0 SLC15A2 6565 broad.mit.edu 37 3 121613338 121613338 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:121613338G>A ENST00000489711.1 + 1 403 c.15G>A c.(13-15)caG>caA p.Q5Q SLC15A2_ENST00000295605.2_Silent_p.Q5Q NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 5 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATCCTTTCCAGAAAAATGAGT 0.488000 42 102 0 0 0.002222 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26108188 26108188 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:26108188G>A ENST00000338379.4 - 1 176 c.134C>T c.(133-135)tCc>tTc p.S45F NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 45 H15. cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 GATCAACTTGGACACAGAGAG 0.547000 15 114 0 0 0.004007 0 0 NSG1 27065 broad.mit.edu 37 4 4411407 4411407 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:4411407C>T ENST00000421177.2 + 8 2345 c.354C>T c.(352-354)ctC>ctT p.L118L NSG1_ENST00000433139.2_Silent_p.L118L|NSG1_ENST00000504171.1_Silent_p.L79L|NSG1_ENST00000505246.1_Silent_p.L118L|NSG1_ENST00000506380.1_Silent_p.L118L|NSG1_ENST00000513555.1_Silent_p.L118L|NSG1_ENST00000397958.1_Silent_p.L118L GGTTCGTCCTCAAGGTAAAAC 0.597000 21 94 0 0 0.002299 0 0 KIAA1614 57710 broad.mit.edu 37 1 180905014 180905014 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:180905014C>T ENST00000367588.4 + 5 2024 c.1969C>T c.(1969-1971)Cac>Tac p.H657Y KIAA1614_ENST00000367587.1_Missense_Mutation_p.H278Y NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 657 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GCCTCGAGGCCACAGGTGGTC 0.667000 47 10 0 0 0.002852 0 0 ADCY7 113 broad.mit.edu 37 16 50339721 50339721 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:50339721C>T ENST00000394697.2 + 14 2053 c.1713C>T c.(1711-1713)acC>acT p.T571T ADCY7_ENST00000254235.3_Silent_p.T571T|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.T571T|ADCY7_ENST00000566433.2_Silent_p.T571T P51828 ADCY7_HUMAN adenylate cyclase 7 571 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) ACTTCTACACCTTTGGGTCCA 0.667000 14 23 0 0 0.004990 0 0 KIAA1045 23349 broad.mit.edu 37 9 34972419 34972419 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:34972419G>A ENST00000242315.3 + 3 537 c.455G>A c.(454-456)aGg>aAg p.R152K KIAA1045_ENST00000544237.1_Missense_Mutation_p.R152K|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 152 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GTCTGCACCAGGGTTTTCCAT 0.572000 39 60 0 0 0.002222 0 0 ABCB5 340273 broad.mit.edu 37 7 20784994 20784994 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:20784994C>T ENST00000404938.2 + 26 4014 c.3362C>T c.(3361-3363)cCa>cTa p.P1121L ABCB5_ENST00000258738.6_Missense_Mutation_p.P676L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 676 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CGTGTGGTGCCATTAGATGAG 0.433000 28 57 0 0 0.001512 0 0 CRTAC1 55118 broad.mit.edu 37 10 99770962 99770962 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:99770962G>A ENST00000370597.3 - 2 512 c.157C>T c.(157-159)Cag>Tag p.Q53* CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.Q53*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.Q53* NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 53 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TAGTTGAGCTGGGTGGGATTA 0.547000 32 47 0 0 0.002445 0 0 GATA2 2624 broad.mit.edu 37 3 128204626 128204626 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:128204626C>T ENST00000341105.2 - 3 1146 c.815G>A c.(814-816)gGg>gAg p.G272E GATA2_ENST00000430265.2_Missense_Mutation_p.G272E|GATA2_ENST00000487848.1_Missense_Mutation_p.G272E NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 272 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GGCCGGTCCCCCCAGGAAGCC 0.642000 Mis AML(CML blast transformation) 6 17 0 0 0.003080 0 0 MYO16 23026 broad.mit.edu 37 13 109707909 109707909 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:109707909C>T ENST00000356711.2 + 27 3361 c.3235C>T c.(3235-3237)Cct>Tct p.P1079S MYO16_ENST00000457511.2_Missense_Mutation_p.P591S|MYO16_ENST00000357550.2_Missense_Mutation_p.P1079S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1079 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATATGGATACCCTGTTCGCCT 0.433000 41 61 0 0 0.003610 0 0 USP11 8237 broad.mit.edu 37 X 47106768 47106768 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:47106768A>T ENST00000377107.2 + 19 2840 c.2486A>T c.(2485-2487)tAt>tTt p.Y829F USP11_ENST00000218348.3_Missense_Mutation_p.Y872F P51784 UBP11_HUMAN ubiquitin specific peptidase 11 872 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CTGTACAAATATGACCTCATC 0.572000 16 3 0 0 0.001216 0 0 IMPG2 50939 broad.mit.edu 37 3 100964675 100964675 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:100964675C>T ENST00000193391.7 - 12 1701 c.1514G>A c.(1513-1515)aGg>aAg p.R505K NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 505 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCCAGAAGTCCTTTCCTCAGA 0.463000 38 105 0 0 0.003610 0 0 TTF1 7270 broad.mit.edu 37 9 135277532 135277532 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:135277532G>A ENST00000334270.2 - 2 716 c.677C>T c.(676-678)tCc>tTc p.S226F NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 226 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CCGGTTACTGGACTTTTTCTT 0.502000 30 7 0 0 0.001512 0 0 SHANK2 22941 broad.mit.edu 37 11 70333095 70333095 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:70333095G>A ENST00000338508.4 - 32 3305 c.3306C>T c.(3304-3306)gcC>gcT p.A1102A SHANK2_ENST00000449833.2_Silent_p.A506A|SHANK2_ENST00000423696.2_Silent_p.A722A|SHANK2_ENST00000409161.1_Silent_p.A505A Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 722 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGGAGAGGAAGGCCGGGGAGT 0.692000 13 202 0 0 0.002450 0 0 WNT7B 7477 broad.mit.edu 37 22 46318890 46318890 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:46318890G>A ENST00000339464.4 - 4 1270 c.896C>T c.(895-897)cCc>cTc p.P299L WNT7B_ENST00000410089.1_Missense_Mutation_p.P283L|WNT7B_ENST00000409496.3_Missense_Mutation_p.P303L NM_058238.2 NP_478679.1 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B 299 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) GTCCGCGCCGGGCGACGTGCG 0.642000 22 10 0 0 0.002780 0 0 CES5A 221223 broad.mit.edu 37 16 55886881 55886881 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:55886881G>A ENST00000521992.1 - 11 1417 c.1272C>T c.(1270-1272)tcC>tcT p.S424S CES5A_ENST00000520435.1_Silent_p.S365S|CES5A_ENST00000518005.1_Silent_p.S289S|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.S395S|CES5A_ENST00000290567.9_Silent_p.S395S NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 395 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTTCAGTCAGGGAGTGCTTGT 0.473000 25 31 0 0 0.006320 0 0 KDR 3791 broad.mit.edu 37 4 55976878 55976878 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:55976878C>T ENST00000263923.4 - 8 1329 c.1034G>A c.(1033-1035)gGg>gAg p.G345E NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 345 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GACACGCTCCCCCACCGTGGC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 41 179 0 0 0.003610 0 0 DOK6 220164 broad.mit.edu 37 18 67406248 67406248 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:67406248G>A ENST00000382713.5 + 6 837 c.647G>A c.(646-648)gGa>gAa p.G216E DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 216 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) ACAAGGGAAGGAGAAATGATC 0.443000 40 59 0 0 0.007835 0 0 CDH16 1014 broad.mit.edu 37 16 66948315 66948315 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:66948315C>T ENST00000299752.4 - 7 777 c.583_splice c.e7-1 p.G195_splice CDH16_ENST00000394055.3_Splice_Site_p.G195_splice|CDH16_ENST00000565796.1_Splice_Site_p.G195_splice|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Splice_Site_p.G115_splice NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 195 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCTGGTGCTCCCTAGAACAGG 0.602000 12 25 0 0 0.001368 0 0 PIGR 5284 broad.mit.edu 37 1 207106416 207106416 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:207106416C>T ENST00000356495.4 - 7 1984 c.1801G>A c.(1801-1803)Gat>Aat p.D601N NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 601 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGCCTGGGATCCTGAATGGCT 0.537000 26 75 0 0 0.004656 0 0 ASXL3 80816 broad.mit.edu 37 18 31325147 31325147 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:31325147C>T ENST00000269197.5 + 12 5335 c.5335C>T c.(5335-5337)Cca>Tca p.P1779S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1779 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CAACAGGCTTCCATTGCCTCT 0.498000 26 20 0 0 0.004656 0 0 DPCD 25911 broad.mit.edu 37 10 103348032 103348032 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:103348032G>A ENST00000416979.2 + 4 877 c.449G>A c.(448-450)gGa>gAa p.G150E DPCD_ENST00000470165.1_Intron Q9BVM2 DPCD_HUMAN deleted in primary ciliary dyskinesia homolog (mouse) 0 protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 GAGTCAGCCGGAAGTGACCCT 0.627000 6 2 0 0 0.001168 0 0 HOXC8 3224 broad.mit.edu 37 12 54404894 54404894 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:54404894G>A ENST00000040584.4 + 2 695 c.458G>A c.(457-459)cGg>cAg p.R153Q NM_022658.3 NP_073149.1 P31273 HXC8_HUMAN homeobox C8 153 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 8 CGCAGTGGACGGCAAACTTAC 0.488000 16 46 0 0 0.004990 0 0 LSAMP 4045 broad.mit.edu 37 3 115571453 115571453 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:115571453C>T ENST00000490035.1 - 4 1025 c.526G>A c.(526-528)Gaa>Aaa p.E176K LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E173K NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 176 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TCTTCTCCTTCAAATTCCCTT 0.413000 30 41 0 0 0.001786 0 0 LILRB1 10859 broad.mit.edu 37 19 55144101 55144101 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55144101C>T ENST00000396331.1 + 7 1205 c.848C>T c.(847-849)aCc>aTc p.T283I LILRB1_ENST00000418536.2_Missense_Mutation_p.T283I|LILRB1_ENST00000396317.1_Missense_Mutation_p.T283I|LILRB1_ENST00000396321.2_Missense_Mutation_p.T283I|LILRB1_ENST00000434867.2_Missense_Mutation_p.T283I|LILRB1_ENST00000324602.7_Missense_Mutation_p.T283I|LILRB1_ENST00000427581.2_Missense_Mutation_p.T319I|LILRB1_ENST00000396332.4_Missense_Mutation_p.T283I|LILRB1_ENST00000448689.1_Missense_Mutation_p.T283I|LILRB1_ENST00000396315.1_Missense_Mutation_p.T283I|LILRB1_ENST00000396327.3_Missense_Mutation_p.T283I NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 283 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GCCAACTTCACCCTGGGCCCT 0.632000 HNSCC(37;0.09) 22 57 0 0 0.001882 0 0 ZNF286A 57335 broad.mit.edu 37 17 15619996 15619996 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:15619996C>T ENST00000464847.2 + 5 1511 c.958C>T c.(958-960)Cac>Tac p.H320Y ZNF286A_ENST00000593105.1_Missense_Mutation_p.H310Y|ZNF286A_ENST00000421016.1_Missense_Mutation_p.H320Y|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.H320Y|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.H320Y Q9HBT8 Z286A_HUMAN zinc finger protein 286A 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) TCAGAGAATTCACGTTGGAGA 0.403000 12 23 0 0 0.002450 0 0 TNRC6B 23112 broad.mit.edu 37 22 40718959 40718959 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:40718959C>T ENST00000454349.2 + 23 5427 c.5216C>T c.(5215-5217)cCa>cTa p.P1739L TNRC6B_ENST00000301923.9_Missense_Mutation_p.P935L|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P935L|TNRC6B_ENST00000335727.8_Missense_Mutation_p.P1629L NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1739 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GCAGCAACCCCAAGTGCGCCA 0.587000 4 9 0 0 0.000248 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515123 47515123 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:47515123G>A ENST00000371901.3 + 11 1552 c.1302G>A c.(1300-1302)gaG>gaA p.E434E CYP4X1_ENST00000538609.1_Silent_p.E433E NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 434 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCTCTCAGGAGAATTCTGATC 0.453000 26 88 0 0 0.006320 0 0 PIGO 84720 broad.mit.edu 37 9 35093436 35093436 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:35093436G>A ENST00000378617.3 - 5 1315 c.921C>T c.(919-921)ttC>ttT p.F307F PIGO_ENST00000341666.3_Silent_p.F307F|PIGO_ENST00000298004.5_Silent_p.F307F|PIGO_ENST00000361778.2_Silent_p.F307F NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 307 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGGTGCTGGGGAAGACTGCTG 0.537000 12 21 0 0 0.002450 0 0 IL7R 3575 broad.mit.edu 37 5 35876216 35876216 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:35876216G>A ENST00000303115.3 + 8 1137 c.1008G>A c.(1006-1008)gaG>gaA p.E336E IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 336 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AAGAATCTGAGAAGCAGAGGC 0.488000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 14 41 0 0 0.004990 0 0 LILRB2 10288 broad.mit.edu 37 19 54778659 54778659 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54778659C>T ENST00000391748.1 - 14 1799 c.1672G>A c.(1672-1674)Gat>Aat p.D558N LILRB2_ENST00000314446.5_Missense_Mutation_p.D558N|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Missense_Mutation_p.D443N|LILRB2_ENST00000391749.4_Missense_Mutation_p.D559N NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 559 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TAGGTCACATCCTGGGGGGCT 0.632000 21 51 0 0 0.003330 0 0 BPIFB2 80341 broad.mit.edu 37 20 31606475 31606475 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:31606475C>T ENST00000170150.3 + 9 897 c.702C>T c.(700-702)atC>atT p.I234I NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 234 extracellular region lipid binding AGCCCATCATCCTGCCCACGG 0.632000 37 143 0 0 0.002222 0 0 RERE 473 broad.mit.edu 37 1 8568705 8568705 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:8568705C>T ENST00000337907.3 - 9 1494 c.860G>A c.(859-861)cGt>cAt p.R287H RERE_ENST00000400907.2_Missense_Mutation_p.R287H|RERE_ENST00000400908.2_Missense_Mutation_p.R287H|RERE_ENST00000377464.1_Missense_Mutation_p.R19H NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 287 ELM2. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGGACCGACACGAATCTCCCC 0.403000 14 57 0 0 0.003163 0 0 TNF 7124 broad.mit.edu 37 6 31545302 31545302 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31545302C>T ENST00000449264.2 + 4 865 c.690C>T c.(688-690)atC>atT p.I230I NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 230 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) ACTTTGGGATCATTGCCCTGT 0.572000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 15 135 0 0 0.004990 0 0 CCDC149 91050 broad.mit.edu 37 4 24833217 24833217 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:24833217G>A ENST00000504487.1 - 9 882 c.876C>T c.(874-876)tcC>tcT p.S292S CCDC149_ENST00000389609.4_Silent_p.S292S|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000428116.2_Intron NM_001130726.2 NP_001124198.1 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 292 cervix(1)|endometrium(1)|large_intestine(2)|lung(3) 7 Breast(46;0.173) GGTCAGAAATGGACTGCGGAG 0.463000 15 67 0 0 0.004007 0 0 HCAR2 338442 broad.mit.edu 37 12 123186926 123186926 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:123186926G>A ENST00000328880.5 - 1 964 c.905C>T c.(904-906)cCc>cTc p.P302L HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 302 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) GAAGAAGTTGGGAAAGGATGG 0.552000 12 75 0 0 0.004007 0 0 TMEM8B 51754 broad.mit.edu 37 9 35847037 35847037 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:35847037G>A ENST00000377996.1 + 9 2279 c.864G>A c.(862-864)tgG>tgA p.W288* TMEM8B_ENST00000377988.2_Intron|TMEM8B_ENST00000377991.4_Intron|TMEM8B_ENST00000439587.2_Nonsense_Mutation_p.W288* A6NDV4 TMM8B_HUMAN transmembrane protein 8B 359 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CTTGTGCATGGTGGTGGGTCA 0.522000 34 68 0 0 0.007835 0 0 AC096579.13 0 broad.mit.edu 37 2 89160296 89160296 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:89160296G>A ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA CTTTTTGAAAGAATCTGGTAC 0.358000 7 15 0 0 0.001984 0 0 NDUFB2 4708 broad.mit.edu 37 7 140404669 140404669 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:140404669C>T ENST00000476279.1 + 3 327 c.253C>T c.(253-255)Ccg>Tcg p.P85S NDUFB2_ENST00000247866.4_Missense_Mutation_p.P85S|NDUFB2_ENST00000482954.1_Missense_Mutation_p.P21S|NDUFB2_ENST00000471136.1_Missense_Mutation_p.P73S|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.P75S|NDUFB2_ENST00000465506.1_Missense_Mutation_p.P85S|NDUFB2_ENST00000472695.1_Missense_Mutation_p.P21S|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000476470.1_Missense_Mutation_p.P21S|NDUFB2_ENST00000460088.1_Missense_Mutation_p.P21S|NDUFB2_ENST00000475276.1_Missense_Mutation_p.P58S O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa 85 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1) 10 Melanoma(164;0.00956) NADH(DB00157) GGGTCACTTTCCGTATCCTGA 0.378000 29 35 0 0 0.001786 0 0 TET1 80312 broad.mit.edu 37 10 70441247 70441247 + Splice_Site SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:70441247T>G ENST00000373644.4 + 9 5123 c.e9+2 NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CAAAATCAGGTATGTATTGGT 0.368000 6 15 0 0 0.001168 0 0 OR3A2 4995 broad.mit.edu 37 17 3181450 3181450 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:3181450G>A ENST00000408891.2 - 1 818 c.780C>T c.(778-780)ttC>ttT p.F260F NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 260 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CTCTTCCAAAGAAAAGACAAA 0.507000 17 32 0 0 0.007413 0 0 COL4A2 1284 broad.mit.edu 37 13 111111269 111111269 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:111111269C>T ENST00000360467.5 + 22 1890 c.1584C>T c.(1582-1584)ttC>ttT p.F528F COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 528 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TCCCTGGGTTCCCAGGGCTCA 0.597000 4 2 0 0 0.000248 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111152 7111152 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:7111152C>T ENST00000306904.5 + 1 988 c.801C>T c.(799-801)gaC>gaT p.D267D NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 267 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding p.D267D(1) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GAGGTCGCGACCGTGACTACG 0.667000 7 14 0 0 0.003080 0 0 LMO7 4008 broad.mit.edu 37 13 76415295 76415295 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:76415295C>T ENST00000357063.3 + 24 5049 c.3789C>T c.(3787-3789)gcC>gcT p.A1263A LMO7_ENST00000377534.3_Silent_p.A1263A|LMO7_ENST00000341547.4_Silent_p.A929A|LMO7_ENST00000465261.2_Silent_p.A978A|LMO7_ENST00000321797.8_Silent_p.A978A|LMO7_ENST00000526202.1_Silent_p.A855A Q8WWI1 LMO7_HUMAN LIM domain 7 1263 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GGCAAAGGGCCAAACAGGAGG 0.378000 18 32 0 0 0.002299 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182492 57182492 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:57182492C>T ENST00000504228.1 + 6 2929 c.2824C>T c.(2824-2826)Cag>Tag p.Q942* KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q935*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q942* Q6ZU35 K1211_HUMAN KIAA1211 942 Pro-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GGCCAGCAGCCAGACCCCGGC 0.652000 6 32 0 0 0.001168 0 0 AGBL1 123624 broad.mit.edu 37 15 86807597 86807597 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:86807597G>A ENST00000441037.2 + 10 1152 c.1057G>A c.(1057-1059)Gac>Aac p.D353N AGBL1_ENST00000421325.2_Missense_Mutation_p.D353N|AGBL1_ENST00000389298.3_Missense_Mutation_p.D84N NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 353 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CTACAGCAAGGACCAAAGCTC 0.493000 5 7 0 0 0.001168 0 0 TREML1 340205 broad.mit.edu 37 6 41121742 41121742 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41121742C>T ENST00000373127.4 - 2 178 c.130G>A c.(130-132)Gat>Aat p.D44N TREML1_ENST00000437044.2_Intron|TREML1_ENST00000426005.2_Missense_Mutation_p.D44N NM_001271807.1 NP_001258736.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 44 Ig-like V-type. calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) GCTTTGACATCCTGGAGCCTG 0.632000 11 73 0 0 0.000673 0 0 NEBL 10529 broad.mit.edu 37 10 21106570 21106570 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:21106570C>T ENST00000377122.4 - 21 2503 c.2107G>A c.(2107-2109)Gag>Aag p.E703K NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 703 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTCTTCAGCTCTGGTGGATCA 0.378000 20 47 0 0 0.003330 0 0 BAI2 576 broad.mit.edu 37 1 32204489 32204489 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:32204489G>A ENST00000373658.3 - 16 2886 c.2545C>T c.(2545-2547)Cct>Tct p.P849S BAI2_ENST00000398547.1_Missense_Mutation_p.P782S|BAI2_ENST00000527361.1_Missense_Mutation_p.P849S|BAI2_ENST00000398542.1_Missense_Mutation_p.P782S|BAI2_ENST00000373655.2_Missense_Mutation_p.P849S|BAI2_ENST00000257070.4_Missense_Mutation_p.P849S|BAI2_ENST00000398556.3_Missense_Mutation_p.P797S|BAI2_ENST00000440175.2_Missense_Mutation_p.P491S|BAI2_ENST00000398538.1_Missense_Mutation_p.P837S NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 849 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGCTGGGTAGGGGGGCGCACA 0.632000 22 112 0 0 0.006320 0 0 C5orf34 375444 broad.mit.edu 37 5 43502496 43502496 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:43502496G>A ENST00000306862.2 - 6 1505 c.1130C>T c.(1129-1131)tCt>tTt p.S377F RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 377 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) TTCTTGAATAGAATAATAAGT 0.328000 35 82 0 0 0.004289 0 0 PHLPP2 23035 broad.mit.edu 37 16 71736601 71736601 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:71736601G>A ENST00000393524.2 - 2 1051 c.318C>T c.(316-318)atC>atT p.I106I PHLPP2_ENST00000568954.1_Silent_p.I106I|PHLPP2_ENST00000356272.3_Silent_p.I106I|PHLPP2_ENST00000567016.1_Silent_p.I141I|PHLPP2_ENST00000360429.3_Silent_p.I106I Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 106 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AATCATAAACGATCTGAAGAG 0.363000 20 46 0 0 0.003330 0 0 PEX1 5189 broad.mit.edu 37 7 92138668 92138668 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:92138668G>A ENST00000248633.4 - 9 1740 c.1645C>T c.(1645-1647)Cct>Tct p.P549S PEX1_ENST00000428214.1_Missense_Mutation_p.P549S|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.P227S NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 549 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTTAAAAAAGGAAGAATAAAG 0.333000 14 20 0 0 0.001855 0 0 PGK2 5232 broad.mit.edu 37 6 49754364 49754364 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:49754364C>T ENST00000304801.3 - 1 689 c.537G>A c.(535-537)gtG>gtA p.V179V NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 179 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GGGGCAGATTCACTCCCACCA 0.468000 20 78 0 0 0.001882 0 0 RYR1 6261 broad.mit.edu 37 19 38931463 38931463 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:38931463G>A ENST00000355481.4 + 2 255 c.124G>A c.(124-126)Ggc>Agc p.G42S RYR1_ENST00000359596.3_Missense_Mutation_p.G42S|RYR1_ENST00000360985.3_Missense_Mutation_p.G42S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 42 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGAGGGCTTCGGCAACCGCCT 0.662000 7 13 0 0 0.001984 0 0 ILDR1 286676 broad.mit.edu 37 3 121720677 121720677 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:121720677C>T ENST00000273691.3 - 4 519 c.414G>A c.(412-414)tgG>tgA p.W138* ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.W138*|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.W150* NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 138 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CTCCATGGTCCCACCACATCA 0.498000 26 39 0 0 0.003330 0 0 TOX 9760 broad.mit.edu 37 8 59720342 59720342 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:59720342C>T ENST00000361421.1 - 9 1765 c.1544_splice c.e9-1 p.G515_splice NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 515 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TCTGCATGCCCCTGTAGGAAG 0.448000 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 82 0 0 0.003163 0 0 LMTK3 114783 broad.mit.edu 37 19 49000689 49000689 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:49000689C>T ENST00000600059.1 - 11 3864 c.3637G>A c.(3637-3639)Gac>Aac p.D1213N LMTK3_ENST00000270238.3_Missense_Mutation_p.D1242N lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGTCCCAAGTCCAAGAATAGT 0.682000 13 36 0 0 0.002450 0 0 CIB4 130106 broad.mit.edu 37 2 26806696 26806696 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:26806696A>C ENST00000288861.4 - 5 452 c.399T>G c.(397-399)gaT>gaG p.D133E CIB4_ENST00000405346.3_5'UTR NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 133 calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGACATGTCATCACTGTTCA 0.557000 18 66 0 0 0.007413 0 0 ASH1L 55870 broad.mit.edu 37 1 155450034 155450034 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:155450034G>A ENST00000368346.3 - 3 3266 c.2627C>T c.(2626-2628)tCc>tTc p.S876F ASH1L_ENST00000392403.3_Missense_Mutation_p.S876F Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 876 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTGTTTGAAGGAAGGGATTTC 0.418000 141 54 0 0 0.003610 0 0 TNF 7124 broad.mit.edu 37 6 31543539 31543539 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31543539C>T ENST00000449264.2 + 1 196 c.21C>T c.(19-21)atC>atT p.I7I NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 7 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) AAAGCATGATCCGGGACGTGG 0.622000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 24 324 0 0 0.004656 0 0 FCRL3 115352 broad.mit.edu 37 1 157665914 157665914 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:157665914C>T ENST00000368184.3 - 7 1339 c.1048G>A c.(1048-1050)Gag>Aag p.E350K FCRL3_ENST00000368186.5_Missense_Mutation_p.E350K|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 350 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GCATCACTCTCCTTCACGGTG 0.517000 63 25 0 0 0.003610 0 0 BRINP1 1620 broad.mit.edu 37 9 121929406 121929406 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:121929406C>T ENST00000265922.3 - 8 2703 c.2242G>A c.(2242-2244)Gag>Aag p.E748K DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 748 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TTGAGGATCTCCGTGTTGTAC 0.512000 62 93 0 0 0.003610 0 0 ZAN 7455 broad.mit.edu 37 7 100348286 100348286 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:100348286C>T ENST00000542585.1 + 0 1436 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGAGTTCTCCCAGGCAGGCCA 0.577000 6 14 0 0 0.001168 0 0 EPHA10 284656 broad.mit.edu 37 1 38184057 38184057 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:38184057C>T ENST00000373048.4 - 17 3013 c.3014G>A c.(3013-3015)gGg>gAg p.G1005E EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.G500E|EPHA10_ENST00000427468.2_Missense_Mutation_p.G1005E NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 1005 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACCTGCACCCCCTGGCCCTG 0.662000 18 72 0 0 0.001216 0 0 NLRP1 22861 broad.mit.edu 37 17 5421208 5421208 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:5421208C>T ENST00000345221.3 - 14 4338 c.e14-1 NLRP1_ENST00000577119.1_Splice_Site|NLRP1_ENST00000572272.1_Splice_Site|NLRP1_ENST00000262467.5_Splice_Site|NLRP1_ENST00000269280.4_Splice_Site|NLRP1_ENST00000354411.3_Splice_Site NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCTCCAGTTCCTGAAGAGGCA 0.532000 14 24 0 0 0.003163 0 0 GMEB1 10691 broad.mit.edu 37 1 29041250 29041250 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:29041250G>A ENST00000373816.1 + 10 1795 c.1657G>A c.(1657-1659)Gtt>Att p.V553I GMEB1_ENST00000361872.4_Missense_Mutation_p.V553I|GMEB1_ENST00000294409.2_Missense_Mutation_p.V563I|GMEB1_ENST00000480454.1_3'UTR NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCATCAAGTTCACAATGT 0.423000 25 42 0 0 0.005443 0 0 UTRN 7402 broad.mit.edu 37 6 144852338 144852338 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:144852338G>A ENST00000367545.3 + 41 6057 c.6057_splice c.e41+1 p.Q2019_splice NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2019 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TACATCAGCAGGTGAGTGCTT 0.443000 10 11 0 0 0.001855 0 0 NCR2 9436 broad.mit.edu 37 6 41318576 41318576 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41318576G>A ENST00000373089.5 + 5 893 c.805G>A c.(805-807)Gat>Aat p.D269N NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 269 Poly-Asp. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) taagataagcgatgatgatga 0.403000 7 78 0 0 0.001984 0 0 SCN11A 11280 broad.mit.edu 37 3 38889067 38889067 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:38889067G>A ENST00000302328.3 - 26 4692 c.4494C>T c.(4492-4494)ttC>ttT p.F1498F SCN11A_ENST00000450244.1_Silent_p.F1498F|SCN11A_ENST00000456224.3_Silent_p.F1460F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1498 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GACCAATGTTGAACAGAGAAG 0.468000 18 42 0 0 0.006122 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380942 28380942 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:28380942G>A ENST00000394835.3 + 10 2162 c.1970G>A c.(1969-1971)gGa>gAa p.G657E EFCAB5_ENST00000320856.5_Missense_Mutation_p.G657E|EFCAB5_ENST00000541045.1_Missense_Mutation_p.G314E|EFCAB5_ENST00000536908.2_Missense_Mutation_p.G601E|EFCAB5_ENST00000378738.3_Missense_Mutation_p.G657E|EFCAB5_ENST00000394832.2_Missense_Mutation_p.G657E NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 657 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GGACCTTATGGAGAGATAATT 0.388000 43 24 0 0 0.002222 0 0 ABRA 137735 broad.mit.edu 37 8 107781950 107781950 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:107781950G>A ENST00000311955.3 - 1 523 c.469C>T c.(469-471)Cca>Tca p.P157S NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 157 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CTCCGCGTTGGGGAGCCGTGG 0.582000 24 164 0 0 0.004656 0 0 OR2A5 393046 broad.mit.edu 37 7 143748222 143748222 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:143748222C>T ENST00000408906.2 + 1 762 c.728C>T c.(727-729)tCc>tTc p.S243F NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ACCTGCTCCTCCCACCTTTGC 0.622000 32 46 0 0 0.001512 0 0 RAC1 5879 broad.mit.edu 37 7 6439791 6439791 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:6439791C>T ENST00000348035.4 + 4 473 c.260C>T c.(259-261)cCt>cTt p.P87L RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P106L NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 87 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CTTGTGAGTCCTGCATCATTT 0.343000 27 462 0 0 0.001512 0 0 RPRD2 23248 broad.mit.edu 37 1 150445429 150445429 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:150445429C>T ENST00000401000.4 + 10 3992 c.3927C>T c.(3925-3927)acC>acT p.T1309T RPRD2_ENST00000369068.4_Silent_p.T1335T|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1335 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TTCAAGGGACCCTGGCTGAGC 0.637000 18 8 0 0 0.001216 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49687791 49687791 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:49687791C>T ENST00000249601.4 - 4 635 c.339G>A c.(337-339)cgG>cgA p.R113R ARHGAP22_ENST00000417912.2_Silent_p.R113R|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417247.2_Silent_p.R23R|ARHGAP22_ENST00000435790.2_Silent_p.R119R|ARHGAP22_ENST00000374170.1_Silent_p.R23R NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 113 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCACCTTCTCCCGCTCCCCGG 0.677000 4 4 0 0 0.000248 0 0 GPR110 266977 broad.mit.edu 37 6 46996787 46996787 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:46996787C>T ENST00000371253.2 - 2 226 c.11G>A c.(10-12)gGa>gAa p.G4E GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G4E NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 4 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CCACAGCACTCCAACTTTCAT 0.483000 17 58 0 0 0.006122 0 0 IDI2 91734 broad.mit.edu 37 10 1070537 1070537 + Missense_Mutation SNP C C T rs61738901 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:1070537C>T ENST00000277517.1 - 2 191 c.127G>A c.(127-129)Gaa>Aaa p.E43K IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA NM_033261.2 NP_150286.1 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 43 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) TCAATGTTTTCGTTCAGATGG 0.498000 15 14 0 0 0.003163 0 0 MYO15A 51168 broad.mit.edu 37 17 18022156 18022156 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:18022156G>A ENST00000205890.5 + 2 380 c.42G>A c.(40-42)ggG>ggA p.G14G NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 14 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ccaagaaagggaagaagggga 0.617000 3 4 0 0 0.004672 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3687267 3687267 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:3687267G>A ENST00000344754.4 - 2 135 c.136C>T c.(136-138)Cct>Tct p.P46S SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P46S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 46 Ig-like V-type. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ACGTCGGCAGGGAAGCTGAAG 0.657000 3 11 0 0 0.004672 0 0 PRPF19 27339 broad.mit.edu 37 11 60668840 60668840 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:60668840C>T ENST00000227524.4 - 8 774 c.567_splice c.e8-1 p.R190_splice NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 190 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 AGTCTTCCCTCTCTGAGAAAA 0.557000 12 15 0 0 0.000978 0 0 GPR32 2854 broad.mit.edu 37 19 51274811 51274811 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:51274811C>T ENST00000270590.4 + 1 1091 c.954C>T c.(952-954)ttC>ttT p.F318F NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 318 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TCTACGTCTTCGTTGGCAGAG 0.542000 30 36 0 0 0.002096 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89247291 89247291 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:89247291C>T ENST00000496168.1 - 0 184 ACCCTCATGTCCATGCTGTGT 0.547000 44 104 0 0 0.003610 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284460 52284460 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52284460C>T ENST00000301190.6 + 5 957 c.730C>T c.(730-732)Cgg>Tgg p.R244W ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.R50W|ANKRD33_ENST00000340970.4_Missense_Mutation_p.R119W NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 119 p.R244W(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GTGGAGGATTCGGCAGCTGCT 0.672000 12 34 0 0 0.001855 0 0 SNORD114-26 767606 broad.mit.edu 37 14 101453403 101453403 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:101453403G>A ENST00000363543.1 + 0 21 NR_003219.1 ATGAGCACTGGTGGAGTATGA 0.388000 24 34 0 0 0.001512 0 0 PRKAR1B 5575 broad.mit.edu 37 7 590155 590155 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:590155G>A ENST00000406797.1 - 11 1232 c.1058C>T c.(1057-1059)cCc>cTc p.P353L PRKAR1B_ENST00000403562.1_Missense_Mutation_p.P353L|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.P353L|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.P353L|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.P353L NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 353 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CTCGAAGCGGGGCCGGTCCAG 0.642000 8 13 0 0 0.003080 0 0 M1AP 130951 broad.mit.edu 37 2 74787386 74787386 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:74787386G>A ENST00000290536.5 - 9 1430 c.1314C>T c.(1312-1314)acC>acT p.T438T M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Silent_p.T87T|M1AP_ENST00000409585.1_Silent_p.T438T|M1AP_ENST00000536235.1_Silent_p.T438T NM_138804.3 NP_620159.2 meiosis 1 associated protein AGGGGTTGTAGGTGGGCTCCA 0.572000 50 27 0 0 0.003610 0 0 PSMB8 5696 broad.mit.edu 37 6 32811717 32811717 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32811717G>A ENST00000374882.3 - 1 107 c.57C>T c.(55-57)ctC>ctT p.L19L PSMB8_ENST00000395339.3_Silent_p.L19L|PSMB8_ENST00000374881.2_Intron NM_148919.3 NP_683720.2 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 19 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 CCGCAACCGGGAGAGCCGATT 0.652000 24 170 0 0 0.004656 0 0 PRDM14 63978 broad.mit.edu 37 8 70971050 70971050 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:70971050C>T ENST00000276594.2 - 6 1412 c.1211G>A c.(1210-1212)aGa>aAa p.R404K NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CTTCCCACATCTTTCACATCT 0.428000 19 79 0 0 0.002299 0 0 CEP250 11190 broad.mit.edu 37 20 34055193 34055193 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:34055193C>A ENST00000397527.1 + 9 1384 c.664C>A c.(664-666)Cgc>Agc p.R222S CEP250_ENST00000342580.4_Missense_Mutation_p.R222S|CEP250_ENST00000397524.1_Missense_Mutation_p.R222S NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 222 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTGTTGTCTGCGCTTGACTGT 0.552000 43 129 3.77016e-25 6.45867e-25 0.003214 1 0 BANK1 55024 broad.mit.edu 37 4 102994886 102994886 + Missense_Mutation SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:102994886A>G ENST00000504592.1 + 20 2717 c.2299A>G c.(2299-2301)Aag>Gag p.K767E BANK1_ENST00000322953.4_Missense_Mutation_p.K782E|BANK1_ENST00000508653.1_Missense_Mutation_p.K649E|BANK1_ENST00000428908.1_Missense_Mutation_p.K649E|BANK1_ENST00000444316.2_Missense_Mutation_p.K752E Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 782 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TTTCTGTTGCAAGAAAGATCA 0.318000 22 31 0 0 0.003954 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386068 56386068 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:56386068G>A ENST00000355701.3 - 22 5435 c.4565C>T c.(4564-4566)cCt>cTt p.P1522L BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1522L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1462L NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1522 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCATCTCCAGGGTAGCAGGA 0.627000 33 15 0 0 0.002096 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091889 143091889 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:143091889G>A ENST00000367603.2 - 5 4729 c.3987C>T c.(3985-3987)ctC>ctT p.L1329L HIVEP2_ENST00000012134.2_Silent_p.L1329L|HIVEP2_ENST00000367604.1_Silent_p.L1329L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CTGTTCCTGGGAGGGACTGCA 0.498000 28 20 0 0 0.005443 0 0 MED12L 116931 broad.mit.edu 37 3 150911442 150911442 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:150911442C>T ENST00000474524.1 + 14 2172 c.2134C>T c.(2134-2136)Cct>Tct p.P712S MED12L_ENST00000422248.2_Missense_Mutation_p.P712S|MED12L_ENST00000273432.4_Missense_Mutation_p.P572S|MED12L_ENST00000309237.4_Missense_Mutation_p.P747S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 712 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AACACATTTTCCTATACCTCT 0.338000 22 68 0 0 0.003330 0 0 MXRA5 25878 broad.mit.edu 37 X 3239522 3239522 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:3239522C>T ENST00000217939.6 - 5 4358 c.4204G>A c.(4204-4206)Gaa>Aaa p.E1402K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1402 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTAAGATTTTCCCCAGAAGTG 0.507000 8 2 0 0 0.003080 0 0 SRF 6722 broad.mit.edu 37 6 43146877 43146877 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43146877C>T ENST00000265354.4 + 7 1834 c.1476C>T c.(1474-1476)acC>acT p.T492T SRF_ENST00000457278.2_Silent_p.T288T NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 492 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GCAACCTCACCGAGCTACAGG 0.622000 16 76 0 0 0.006122 0 0 FANCF 2188 broad.mit.edu 37 11 22646373 22646373 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:22646373G>A ENST00000327470.3 - 1 1014 c.984C>T c.(982-984)gcC>gcT p.A328A NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 328 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 AGGTCTCCAGGGCAGTTAGAA 0.478000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 59 0 0 0.002852 0 0 TET3 200424 broad.mit.edu 37 2 74317148 74317148 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:74317148C>T ENST00000409262.3 + 5 2608 c.2608C>T c.(2608-2610)Cgc>Tgc p.R870C NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 870 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCGCAAGTTCCGCCTCGCAGG 0.597000 34 102 0 0 0.003271 0 0 ICK 22858 broad.mit.edu 37 6 52874239 52874239 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:52874239G>A ENST00000356971.3 - 13 2108 c.1619C>T c.(1618-1620)tCa>tTa p.S540L ICK_ENST00000350082.5_Missense_Mutation_p.S540L NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 540 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TTACTCACCTGAATTTACTTT 0.448000 21 145 0 0 0.002780 0 0 HEATR1 55127 broad.mit.edu 37 1 236746319 236746319 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:236746319G>A ENST00000366582.3 - 18 2533 c.2419C>T c.(2419-2421)Cct>Tct p.P807S HEATR1_ENST00000366581.2_Missense_Mutation_p.P807S NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 807 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTACCTTTAGGAAAAGATTTA 0.383000 60 29 0 0 0.003610 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423517 33423517 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:33423517G>A ENST00000395064.2 + 2 908 c.640G>A c.(640-642)Gaa>Aaa p.E214K NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 ggtggaagaagaagaggagga 0.552000 21 123 0 0 0.001523 0 0 OR1N2 138882 broad.mit.edu 37 9 125316009 125316009 + Silent SNP C C G rs140908671 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:125316009C>G ENST00000373688.2 + 1 619 c.561C>G c.(559-561)gcC>gcG p.A187A NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTTTCTGTGCCCAGAAAGCCA 0.537000 39 8 0 0 0.004878 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323175 61323175 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:61323175C>T ENST00000283752.5 - 8 1032 c.889G>A c.(889-891)Gac>Aac p.D297N SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.D245N NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 297 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.D297N(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CTCAACGTGTCCTTGAGGTCA 0.488000 31 35 0 0 0.003755 0 0 HPCAL4 51440 broad.mit.edu 37 1 40148263 40148263 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:40148263G>A ENST00000372844.3 - 4 912 c.521C>T c.(520-522)gCa>gTa p.A174V NM_016257.2 NP_057341.1 Q9UM19 HPCL4_HUMAN hippocalcin like 4 174 EF-hand 4. central nervous system development intracellular calcium ion binding breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ACTCTTGGCTGCCTCCTTGAA 0.567000 21 70 0 0 0.004656 0 0 RNF40 9810 broad.mit.edu 37 16 30777704 30777704 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:30777704C>T ENST00000324685.6 + 10 1553 c.1118C>T c.(1117-1119)gCc>gTc p.A373V RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.A333V NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 373 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) CCCCAGGTGGCCCTGCGGAGC 0.617000 28 38 0 0 0.003271 0 0 ZNF454 285676 broad.mit.edu 37 5 178392003 178392003 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:178392003C>T ENST00000320129.3 + 5 901 c.598C>T c.(598-600)Cat>Tat p.H200Y ZNF454_ENST00000519564.1_Missense_Mutation_p.H200Y NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TCAGAAAATTCATAATGAAAA 0.343000 27 39 0 0 0.005443 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475829 27475829 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:27475829G>A ENST00000356183.4 - 34 5699 c.5684C>T c.(5683-5685)cCc>cTc p.P1895L GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1895L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1895 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCCAAGGCTGGGGGCCAAATT 0.667000 29 69 0 0 0.001786 0 0 R3HDM2 22864 broad.mit.edu 37 12 57677620 57677620 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:57677620C>T ENST00000402412.1 - 13 1548 c.1158G>A c.(1156-1158)agG>agA p.R386R RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_Silent_p.R372R|R3HDM2_ENST00000347140.3_Silent_p.R372R|R3HDM2_ENST00000393811.2_Silent_p.R99R|R3HDM2_ENST00000358907.2_Silent_p.R372R|R3HDM2_ENST00000413953.2_Silent_p.R99R|R3HDM2_ENST00000441731.2_Silent_p.R33R Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 372 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCTGGAGATCCTTCCCGCAC 0.488000 65 129 0 0 0.003610 0 0 CCDC39 339829 broad.mit.edu 37 3 180372596 180372596 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:180372596G>A ENST00000273654.4 - 13 1755 c.1136C>T c.(1135-1137)aCg>aTg p.T379M CCDC39_ENST00000442201.2_Missense_Mutation_p.T295M Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 295 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.T379K(1)|p.T295K(1) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTGATATGCCGTTCTACATTT 0.353000 11 31 0 0 0.001855 0 0 GBP5 115362 broad.mit.edu 37 1 89730416 89730416 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:89730416T>A ENST00000343435.5 - 8 1638 c.1102A>T c.(1102-1104)Aaa>Taa p.K368* GBP5_ENST00000370459.3_Nonsense_Mutation_p.K368*|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 368 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) AAAGAGTTTTTCATGAAGACT 0.463000 32 30 0 0 0.002836 0 0 FAT2 2196 broad.mit.edu 37 5 150946847 150946847 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:150946847G>A ENST00000261800.5 - 1 1658 c.1646C>T c.(1645-1647)tCc>tTc p.S549F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 549 Cadherin 4. 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) AAGAAAAATGGACACTTCCTT 0.473000 23 124 0 0 0.003954 0 0 ZNF676 163223 broad.mit.edu 37 19 22363276 22363276 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:22363276G>A ENST00000397121.2 - 3 1560 c.1243C>T c.(1243-1245)Cat>Tat p.H415Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTCCAGTATGAATTCTCTTA 0.433000 21 23 0 0 0.003954 0 0 DCAF4 26094 broad.mit.edu 37 14 73420935 73420935 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:73420935C>T ENST00000553457.1 + 9 862 c.572C>T c.(571-573)tCc>tTc p.S191F DCAF4_ENST00000394234.2_Missense_Mutation_p.S191F|DCAF4_ENST00000358377.2_Missense_Mutation_p.S291F|DCAF4_ENST00000555042.1_Missense_Mutation_p.S292F|DCAF4_ENST00000509153.1_Missense_Mutation_p.S231F|DCAF4_ENST00000353777.3_Intron Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 291 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 TGTGCCTGGTCCCTGAATATC 0.547000 68 102 0 0 0.003610 0 0 VCPIP1 80124 broad.mit.edu 37 8 67547158 67547158 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:67547158G>A ENST00000310421.4 - 3 3505 c.3247C>T c.(3247-3249)Cga>Tga p.R1083* NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 1083 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity p.R1083*(1) breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GGAGCTATTCGAATAAGCTCA 0.403000 20 100 0 0 0.007413 0 0 BOC 91653 broad.mit.edu 37 3 113002451 113002451 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:113002451C>T ENST00000495514.1 + 16 3329 c.2625C>T c.(2623-2625)ttC>ttT p.F875F BOC_ENST00000273395.4_Silent_p.F876F|BOC_ENST00000355385.3_Silent_p.F875F Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 875 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) TCATCCCCTTCTGCTTGTGGA 0.597000 23 51 0 0 0.003330 0 0 TRIM48 79097 broad.mit.edu 37 11 55036761 55036761 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:55036761G>A ENST00000417545.2 + 5 708 c.622G>A c.(622-624)Gcg>Acg p.A208T NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 192 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TCTGAATCTAGCGCTCAGGGC 0.493000 22 22 0 0 0.005443 0 0 ABCB4 5244 broad.mit.edu 37 7 87042978 87042978 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:87042978C>T ENST00000265723.4 - 22 2849 c.2738G>A c.(2737-2739)aGa>aAa p.R913K ABCB4_ENST00000545634.1_Missense_Mutation_p.R913K|ABCB4_ENST00000453593.1_Missense_Mutation_p.R913K|ABCB4_ENST00000359206.3_Missense_Mutation_p.R913K|ABCB4_ENST00000358400.3_Missense_Mutation_p.R913K NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 913 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCAAATTTTCTTTCCTGGGT 0.358000 31 47 0 0 0.002836 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586909 42586909 + Nonsense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:42586909C>A ENST00000289957.2 + 5 587 c.459C>A c.(457-459)tgC>tgA p.C153* NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 153 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAAGCTCCTGCACCATGGACG 0.527000 15 24 1.49906e-05 2.54368e-05 0.002450 1 0 TRMT1 55621 broad.mit.edu 37 19 13220601 13220601 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:13220601G>A ENST00000592062.1 - 11 1728 c.1158C>T c.(1156-1158)caC>caT p.H386H TRMT1_ENST00000357720.4_Silent_p.H386H|TRMT1_ENST00000221504.8_Silent_p.H357H|TRMT1_ENST00000437766.1_Silent_p.H386H Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 386 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GTTGCCCACAGTGTTCACACT 0.627000 15 30 0 0 0.004990 0 0 GRWD1 83743 broad.mit.edu 37 19 48953957 48953957 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:48953957C>T ENST00000253237.5 + 5 950 c.717C>T c.(715-717)atC>atT p.I239I NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 239 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) AAAAGAACATCCACCTCTGGA 0.647000 13 16 0 0 0.002450 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58190533 58190533 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:58190533C>T ENST00000483681.1 - 6 977 c.396G>A c.(394-396)agG>agA p.R132R DNASE1L3_ENST00000486455.1_Silent_p.R102R|DNASE1L3_ENST00000394549.2_Silent_p.R132R|DNASE1L3_ENST00000318316.3_Silent_p.R132R Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 132 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) CAAAGGGCTCCCTGGAAAACA 0.527000 14 26 0 0 0.004007 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229720 87229720 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:87229720G>A ENST00000297524.3 - 3 1261 c.1158C>T c.(1156-1158)ccC>ccT p.P386P SLC7A13_ENST00000419776.2_Silent_p.P377P NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 386 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TAGATAGATTGGGTTCCTGGT 0.284000 19 81 0 0 0.001523 0 0 OR8J1 219477 broad.mit.edu 37 11 56128611 56128611 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:56128611G>A ENST00000303039.3 + 1 921 c.889G>A c.(889-891)Gat>Aat p.D297N NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GAGGAATAAGGATGTGAAGAC 0.363000 19 153 0 0 0.001523 0 0 RADIL 55698 broad.mit.edu 37 7 4856006 4856006 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:4856006C>T ENST00000399583.3 - 8 2006 c.1819G>A c.(1819-1821)Gag>Aag p.E607K RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.E367K NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 607 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CGCAGCTCCTCGGGCAGTTCG 0.701000 40 65 0 0 0.002522 0 0 SBSPON 157869 broad.mit.edu 37 8 73993430 73993430 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:73993430C>T ENST00000297354.6 - 2 437 c.233G>A c.(232-234)gGg>gAg p.G78E SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 78 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity GCTCCATTCCCCCACGAAGCA 0.632000 10 63 0 0 0.000673 0 0 ZIM3 114026 broad.mit.edu 37 19 57646987 57646987 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57646987G>A ENST00000269834.1 - 5 1103 c.718C>T c.(718-720)Caa>Taa p.Q240* NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCTGATGTTGAAAGAGATTT 0.383000 39 79 0 0 0.006230 0 0 AOC4P 90586 broad.mit.edu 37 17 41020661 41020661 + RNA SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:41020661G>A ENST00000585538.1 + 0 1500 NR_002773.1 GGGCCTTGCGGAAACGGTGCT 0.507000 21 14 0 0 0.001523 0 0 MGRN1 23295 broad.mit.edu 37 16 4731613 4731613 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:4731613C>T ENST00000399577.5 + 13 1287 c.1194C>T c.(1192-1194)ctC>ctT p.L398L MGRN1_ENST00000262370.7_Silent_p.L398L|MGRN1_ENST00000415496.1_Silent_p.L377L|MGRN1_ENST00000586183.1_Silent_p.L376L|MGRN1_ENST00000588994.1_Silent_p.L376L NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 398 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 TCAACGGCCTCCGGGCTGTCT 0.657000 18 23 0 0 0.001882 0 0 GALNT12 79695 broad.mit.edu 37 9 101589065 101589065 + Silent SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:101589065T>A ENST00000375011.3 + 3 573 c.573T>A c.(571-573)ctT>ctA p.L191L NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 191 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) CCAATGAGCTTTCGGGACTGC 0.647000 16 2 0 0 0.004990 0 0 KCNMB1 3779 broad.mit.edu 37 5 169810806 169810806 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:169810806C>T ENST00000274629.4 - 3 625 c.183G>A c.(181-183)agG>agA p.R61R KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Silent_p.R61R|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 61 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) CCTCCTGGTCCCTGATGTTGG 0.582000 20 28 0 0 0.001216 0 0 GYS2 2998 broad.mit.edu 37 12 21699379 21699379 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:21699379G>A ENST00000261195.2 - 12 1702 c.1448C>T c.(1447-1449)tCc>tTc p.S483F NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 483 S -> P (in GSD0). glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ACTGGTGGAGGATAGAAACTC 0.363000 12 15 0 0 0.000978 0 0 ATXN1 6310 broad.mit.edu 37 6 16328174 16328174 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:16328174A>C ENST00000244769.4 - 8 1304 c.368T>G c.(367-369)cTg>cGg p.L123R ATXN1_ENST00000436367.1_Missense_Mutation_p.L123R NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 123 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGTGTGCGGCAGGTGAGCGTA 0.667000 14 110 0 0 0.002450 0 0 ZNF555 148254 broad.mit.edu 37 19 2852712 2852712 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:2852712C>T ENST00000334241.4 + 4 787 c.649C>T c.(649-651)Cgg>Tgg p.R217W ZNF555_ENST00000591539.1_Missense_Mutation_p.R216W|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 217 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) CTCCCTCAATCGGCATGTAAG 0.428000 22 29 0 0 0.002299 0 0 OR8H3 390152 broad.mit.edu 37 11 55890640 55890640 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:55890640G>A ENST00000313472.3 + 1 792 c.792G>A c.(790-792)aaG>aaA p.K264K NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AGCCAAGAAAGTCTTATTCCT 0.388000 22 200 0 0 0.001523 0 0 THBS3 7059 broad.mit.edu 37 1 155174669 155174669 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:155174669C>T ENST00000368378.3 - 4 643 c.623G>A c.(622-624)gGg>gAg p.G208E RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Intron|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000541990.1_Intron NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 208 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGACTCGTCCCCTTGGAATGG 0.537000 48 161 0 0 0.003610 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475830 27475830 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:27475830G>A ENST00000356183.4 - 34 5698 c.5683C>T c.(5683-5685)Ccc>Tcc p.P1895S GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1895S NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1895 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCAAGGCTGGGGGCCAAATTT 0.667000 31 70 0 0 0.002445 0 0 INTS1 26173 broad.mit.edu 37 7 1516462 1516462 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:1516462G>A ENST00000389470.4 - 37 5627 c.5628C>T c.(5626-5628)atC>atT p.I1876I INTS1_ENST00000404767.3_Silent_p.I1677I Q8N201 INT1_HUMAN integrator complex subunit 1 1677 Poly-Leu. snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCAGGACTCGGATGCACTGGT 0.657000 10 76 0 0 0.001368 0 0 NRIP1 8204 broad.mit.edu 37 21 16337281 16337281 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:16337281G>A ENST00000400202.1 - 3 3945 c.3233C>T c.(3232-3234)tCt>tTt p.S1078F NRIP1_ENST00000318948.4_Missense_Mutation_p.S1078F|NRIP1_ENST00000400199.1_Missense_Mutation_p.S1078F P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 1078 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) ACTGGTAACAGAATTGCCTCC 0.418000 34 135 0 0 0.005524 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186792044 186792044 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:186792044C>T ENST00000169298.3 + 7 1576 c.902C>T c.(901-903)cCt>cTt p.P301L ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P70L|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P301L NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 301 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CCCCAGATGCCTTGGGAGCTA 0.473000 33 103 0 0 0.005524 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54696093 54696093 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:54696093C>T ENST00000230640.5 + 21 2579 c.2325C>T c.(2323-2325)ccC>ccT p.P775P SKIV2L2_ENST00000545714.1_Silent_p.P674P NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 775 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) ACGGCATCCCCTTATTAGACC 0.353000 11 47 0 0 0.001368 0 0 GPI 2821 broad.mit.edu 37 19 34868484 34868484 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:34868484C>T ENST00000356487.5 + 5 720 c.479C>T c.(478-480)tCc>tTc p.S160F GPI_ENST00000415930.3_Intron|GPI_ENST00000586425.1_Missense_Mutation_p.S160F NM_000175.3 NP_000166.2 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 160 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) ATTGGCGGCTCCGACCTGGTG 0.592000 31 95 0 0 0.002836 0 0 CAGE1 285782 broad.mit.edu 37 6 7374037 7374037 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:7374037C>T ENST00000502583.1 - 5 1579 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K CAGE1_ENST00000296742.7_Missense_Mutation_p.E203K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E339K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E339K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E339K NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 339 p.E339*(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) ATCTGTAGTTCTTTAACCCTC 0.328000 18 82 0 0 0.007413 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370481 35370481 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:35370481G>A ENST00000373347.1 - 3 772 c.504C>T c.(502-504)agC>agT p.S168S DLGAP3_ENST00000235180.4_Silent_p.S168S O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 168 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.S168R(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCCGGATGCGGCTAGGGCTCT 0.667000 11 33 0 0 0.002450 0 0 CASR 846 broad.mit.edu 37 3 121976007 121976007 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:121976007C>T ENST00000498619.1 + 3 703 c.265C>T c.(265-267)Ccc>Tcc p.P89S CASR_ENST00000490131.1_Missense_Mutation_p.P89S|CASR_ENST00000296154.5_Missense_Mutation_p.P89S NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 89 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGCCCTTCTTCCCAACTTGAC 0.448000 26 80 0 0 0.004656 0 0 SNX29 92017 broad.mit.edu 37 16 12096892 12096892 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:12096892C>T ENST00000566228.1 + 3 183 c.114C>T c.(112-114)tcC>tcT p.S38S NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 0 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CCTCGGATTCCGACAGCAGGT 0.512000 24 37 0 0 0.001786 0 0 SLC15A2 6565 broad.mit.edu 37 3 121634077 121634077 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:121634077G>A ENST00000489711.1 + 6 920 c.532G>A c.(532-534)Gag>Aag p.E178K SLC15A2_ENST00000295605.2_Missense_Mutation_p.E147K NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 178 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GTTTCAGGCAGAGGAACGGAC 0.448000 13 31 0 0 0.004007 0 0 DCAF11 80344 broad.mit.edu 37 14 24590046 24590046 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:24590046G>A ENST00000446197.3 + 12 1819 c.e12-1 DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 CUL4 RING ubiquitin ligase complex protein binding TGGATTCATAGGGTGATGCCC 0.517000 51 71 0 0 0.003610 0 0 POLR1B 84172 broad.mit.edu 37 2 113315512 113315512 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:113315512C>T ENST00000263331.5 + 8 1764 c.1184C>T c.(1183-1185)tCt>tTt p.S395F POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.S339F|POLR1B_ENST00000537335.1_Missense_Mutation_p.S184F|POLR1B_ENST00000541869.1_Missense_Mutation_p.S433F NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 395 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 TGGTTAGTGTCTATTAAAATA 0.353000 5 6 0 0 0.000602 0 0 EPPK1 83481 broad.mit.edu 37 8 144941802 144941802 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:144941802G>A ENST00000525985.1 - 2 5691 c.5620C>T c.(5620-5622)Cgt>Tgt p.R1874C P58107 EPIPL_HUMAN epiplakin 1 1874 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) CTCCCCACACGAAGTGTGTGC 0.607000 21 101 0 0 0.001523 0 0 IGSF9 57549 broad.mit.edu 37 1 159904007 159904007 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:159904007C>T ENST00000368094.1 - 9 1274 c.1077G>A c.(1075-1077)aaG>aaA p.K359K IGSF9_ENST00000361509.3_Silent_p.K343K NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 359 Ig-like 4. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTTTCCATCCTTGGTCCAGC 0.612000 22 10 0 0 0.007291 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490949 48490949 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:48490949C>T ENST00000273861.4 + 3 1526 c.1307C>T c.(1306-1308)tCt>tTt p.S436F NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 436 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 GCTCAGACTTCTCTCTAAATG 0.353000 33 56 0 0 0.004878 0 0 DOPEY1 23033 broad.mit.edu 37 6 83810447 83810447 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:83810447C>T ENST00000349129.2 + 4 422 c.162C>T c.(160-162)taC>taT p.Y54Y DOPEY1_ENST00000237163.5_Silent_p.Y54Y|DOPEY1_ENST00000536812.1_Silent_p.Y54Y|DOPEY1_ENST00000369739.3_Silent_p.Y54Y NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 54 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ATGCAAAGTACCAAGTAGTAC 0.363000 44 71 0 0 0.002222 0 0 WDR49 151790 broad.mit.edu 37 3 167196724 167196724 + Missense_Mutation SNP C C T rs76736291 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:167196724C>T ENST00000308378.3 - 15 2341 c.2036G>A c.(2035-2037)cGa>cAa p.R679Q WDR49_ENST00000453925.2_Missense_Mutation_p.R644Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R504Q|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000479765.1_3'UTR NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 679 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTTGGCTTTTCGTTCATGATG 0.318000 13 35 0 0 0.001368 0 0 ZNF48 197407 broad.mit.edu 37 16 30410152 30410152 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:30410152C>T ENST00000320159.2 + 2 1957 c.1581C>T c.(1579-1581)gcC>gcT p.A527A NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 527 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 TACCCATGGCCCCTCGACCCC 0.662000 22 26 0 0 0.002780 0 0 TUB 7275 broad.mit.edu 37 11 8118894 8118894 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:8118894C>T ENST00000305253.4 + 8 1213 c.972C>T c.(970-972)atC>atT p.I324I TUB_ENST00000299506.2_Silent_p.I269I|TUB_ENST00000534099.1_Silent_p.I275I NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 269 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) AATGCCGCATCACTCGGGACA 0.577000 28 47 0 0 0.002096 0 0 DSP 1832 broad.mit.edu 37 6 7585215 7585215 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:7585215G>C ENST00000379802.3 + 24 8061 c.7720G>C c.(7720-7722)Ggc>Cgc p.G2574R DSP_ENST00000418664.2_Missense_Mutation_p.G1975R NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2574 Globular 2. 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) CAGCAGCATGGGCAGTGGTGT 0.483000 20 135 0 0 0.001523 0 0 ZNF836 162962 broad.mit.edu 37 19 52658279 52658279 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:52658279C>T ENST00000322146.8 - 5 3178 c.2657G>A c.(2656-2658)gGa>gAa p.G886E ZNF836_ENST00000597252.1_Missense_Mutation_p.G886E|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 886 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGGTTTTTCTCCAGAATGAAT 0.393000 21 31 0 0 0.002299 0 0 CA2 760 broad.mit.edu 37 8 86386616 86386616 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:86386616G>A ENST00000285379.5 + 4 645 c.415G>A c.(415-417)Gga>Aga p.G139R NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 139 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GCAACCTGATGGACTGGCCGT 0.398000 54 288 0 0 0.003610 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461204 141461204 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:141461204T>A ENST00000389328.4 - 2 577 c.563A>T c.(562-564)aAg>aTg p.K188M TRAPPC9_ENST00000438773.2_Missense_Mutation_p.K90M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.K90M NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 90 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TGGCCAGTCCTTGGCCGAGAA 0.582000 20 83 0 0 0.001882 0 0 FREM1 158326 broad.mit.edu 37 9 14801670 14801670 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:14801670G>A ENST00000380881.4 - 21 4492 c.3677C>T c.(3676-3678)tCc>tTc p.S1226F FREM1_ENST00000380880.3_Missense_Mutation_p.S1225F|FREM1_ENST00000422223.2_Missense_Mutation_p.S1225F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1225 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GAGTTCCATGGAAAAGCTGTG 0.423000 6 29 0 0 0.001168 0 0 FGD6 55785 broad.mit.edu 37 12 95604835 95604835 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:95604835G>A ENST00000343958.4 - 2 448 c.225C>T c.(223-225)atC>atT p.I75I FGD6_ENST00000549499.1_Silent_p.I75I|FGD6_ENST00000546711.1_Silent_p.I75I NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 75 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 GGTTCAACATGATTTTCCTTG 0.408000 80 214 0 0 0.003610 0 0 ECE2 9718 broad.mit.edu 37 3 183995965 183995965 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183995965G>A ENST00000402825.3 + 6 968 c.968G>A c.(967-969)tGg>tAg p.W323* ECE2_ENST00000404464.3_Nonsense_Mutation_p.W205*|ECE2_ENST00000357474.5_Nonsense_Mutation_p.W251*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.W176*|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 323 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATTGGTGGTTGGAACATTACG 0.542000 12 53 0 0 0.000978 0 0 ANK1 286 broad.mit.edu 37 8 41577322 41577322 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:41577322G>A ENST00000396942.1 - 10 1047 c.964C>T c.(964-966)Cgg>Tgg p.R322W ANK1_ENST00000265709.8_Missense_Mutation_p.R355W|ANK1_ENST00000379758.2_Missense_Mutation_p.R322W|ANK1_ENST00000352337.4_Missense_Mutation_p.R322W|ANK1_ENST00000347528.4_Missense_Mutation_p.R322W|ANK1_ENST00000289734.7_Missense_Mutation_p.R322W|ANK1_ENST00000396945.1_Missense_Mutation_p.R322W P16157 ANK1_HUMAN ankyrin 1, erythrocytic 322 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AACAGGAGCCGGACACAGTCG 0.572000 37 97 0 0 0.006230 0 0 VN1R2 317701 broad.mit.edu 37 19 53762121 53762121 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:53762121C>T ENST00000341702.3 + 1 577 c.493C>T c.(493-495)Ctt>Ttt p.L165F NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 165 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ATGCAAATTTCTTTTGTATGC 0.453000 23 42 0 0 0.002299 0 0 RNF183 138065 broad.mit.edu 37 9 116060000 116060000 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:116060000G>A ENST00000478815.1 - 1 2045 c.465C>T c.(463-465)ttC>ttT p.F155F RNF183_ENST00000297894.5_Silent_p.F155F|RNF183_ENST00000441031.3_Silent_p.F155F|RNF183_ENST00000416588.2_Silent_p.F155F Q96D59 RN183_HUMAN ring finger protein 183 155 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 GAGGGTTGCGGAAACACTCCC 0.587000 40 3 0 0 0.003214 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868259 31868259 + Missense_Mutation SNP C C T rs143624178 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31868259C>T ENST00000375527.2 - 2 999 c.824G>A c.(823-825)gGg>gAg p.G275E C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 275 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 CAGGCCCTCCCCTTCTGCATC 0.706000 39 211 0 0 0.001951 0 0 PTK7 5754 broad.mit.edu 37 6 43099757 43099757 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43099757C>T ENST00000230419.4 + 6 1037 c.816C>T c.(814-816)ccC>ccT p.P272P PTK7_ENST00000471863.1_Silent_p.P272P|PTK7_ENST00000352931.2_Silent_p.P272P|PTK7_ENST00000349241.2_Silent_p.P272P|PTK7_ENST00000345201.2_Silent_p.P272P|PTK7_ENST00000481273.1_Silent_p.P280P NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 272 Ig-like C2-type 3. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TCTGCAGCCCCCCACACCTCC 0.582000 15 77 0 0 0.001216 0 0 MUC16 94025 broad.mit.edu 37 19 9082689 9082689 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9082689G>A ENST00000397910.4 - 1 9329 c.9126C>T c.(9124-9126)ttC>ttT p.F3042F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3043 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGGGAAAGGAAGCTTGTTT 0.483000 26 52 0 0 0.003954 0 0 ANTXR1 84168 broad.mit.edu 37 2 69420468 69420468 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:69420468G>A ENST00000303714.4 + 17 1677 c.1353_splice c.e17-1 p.G452_splice NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 452 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 TTATTTCAGGGAAAACTCGAT 0.468000 Familial Infantile Hemangioma 26 79 0 0 0.005443 0 0 MEI1 150365 broad.mit.edu 37 22 42099376 42099376 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:42099376C>T ENST00000401548.3 + 2 256 c.216C>T c.(214-216)gcC>gcT p.A72A MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 72 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TCCAAGATGCCCTTGTGAGGC 0.433000 6 14 0 0 0.001984 0 0 RAVER1 125950 broad.mit.edu 37 19 10444150 10444150 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:10444150G>A ENST00000293677.6 - 1 166 c.85C>T c.(85-87)Ccg>Tcg p.P29S NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 12 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GGGCTCAGCGGGGGCCGGTGA 0.697000 17 21 0 0 0.006122 0 0 WNK1 65125 broad.mit.edu 37 12 994853 994853 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:994853C>T ENST00000537687.1 + 19 6306 c.5663C>T c.(5662-5664)cCc>cTc p.P1888L WNK1_ENST00000535572.1_Missense_Mutation_p.P1381L|WNK1_ENST00000530271.2_Missense_Mutation_p.P2126L|WNK1_ENST00000340908.4_Missense_Mutation_p.P1221L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1628L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1628 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCTTTGCTTCCCAACCAGCCC 0.478000 25 51 0 0 0.004656 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077309 57077309 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57077309C>T ENST00000532437.1 - 5 3187 c.2876G>A c.(2875-2877)aGg>aAg p.R959K TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R959K|TNKS1BP1_ENST00000530920.1_5'UTR Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 959 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GCTGTAGTCCCTTATCCAAGC 0.602000 98 114 0 0 0.003610 0 0 LMTK3 114783 broad.mit.edu 37 19 49000690 49000690 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:49000690C>T ENST00000600059.1 - 11 3863 c.3636G>A c.(3634-3636)ttG>ttA p.L1212L LMTK3_ENST00000270238.3_Silent_p.L1241L lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GTCCCAAGTCCAAGAATAGTC 0.682000 13 35 0 0 0.002450 0 0 OR5M3 219482 broad.mit.edu 37 11 56237335 56237335 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:56237335G>A ENST00000312240.2 - 1 679 c.639C>T c.(637-639)atC>atT p.I213I NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AGTAAGAGATGATAATTACAG 0.443000 15 156 0 0 0.004007 0 0 ZNF813 126017 broad.mit.edu 37 19 53993859 53993859 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:53993859C>T ENST00000396403.4 + 4 501 c.373C>T c.(373-375)Cga>Tga p.R125* ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TAGTGCAGACCGATATGATCA 0.408000 55 160 0 0 0.003610 0 0 LY75 4065 broad.mit.edu 37 2 160692099 160692099 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:160692099C>T ENST00000263636.4 - 26 3592 c.3565G>A c.(3565-3567)Gaa>Aaa p.E1189K LY75_ENST00000553424.1_Missense_Mutation_p.E1189K|LY75_ENST00000554112.1_Missense_Mutation_p.E1189K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1189K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1189K 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) CCATTAGTTTCAGCCCAGCGA 0.413000 20 38 0 0 0.001523 0 0 BSN 8927 broad.mit.edu 37 3 49698439 49698439 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:49698439C>T ENST00000296452.4 + 6 9275 c.9161C>T c.(9160-9162)cCc>cTc p.P3054L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3054 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TTCCAGCAGCCCCGCTTCCAG 0.682000 10 33 0 0 0.000673 0 0 RHBDL2 54933 broad.mit.edu 37 1 39381234 39381234 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:39381234C>T ENST00000540558.1 - 3 637 c.395G>A c.(394-396)gGg>gAg p.G132E RHBDL2_ENST00000372990.1_Splice_Site_p.G132_splice|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Splice_Site_p.G212_splice|RHBDL2_ENST00000289248.2_Splice_Site_p.G132_splice|RHBDL2_ENST00000538156.1_Splice_Site_p.G199_splice Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 132 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CATTGCTTACCCAGCATGTAC 0.423000 20 61 0 0 0.001523 0 0 AKAP6 9472 broad.mit.edu 37 14 33147646 33147646 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:33147646C>T ENST00000280979.4 + 8 3030 c.2860C>T c.(2860-2862)Cat>Tat p.H954Y AKAP6_ENST00000557354.1_Missense_Mutation_p.H954Y|AKAP6_ENST00000557272.1_Missense_Mutation_p.H954Y NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 954 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTCAAAAGTTCATTCAGTGGG 0.408000 17 28 0 0 0.007413 0 0 EFHB 151651 broad.mit.edu 37 3 19956846 19956846 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:19956846C>T ENST00000295824.9 - 5 1398 c.1237G>A c.(1237-1239)Gga>Aga p.G413R EFHB_ENST00000344838.4_Missense_Mutation_p.G283R|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 413 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CCTTCATTTCCTTCTTTAAAT 0.368000 22 52 0 0 0.003330 0 0 MYO18B 84700 broad.mit.edu 37 22 26228894 26228894 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:26228894C>T ENST00000335473.7 + 16 3240 c.2990C>T c.(2989-2991)cCt>cTt p.P997L MYO18B_ENST00000407587.2_Missense_Mutation_p.P997L|MYO18B_ENST00000536101.1_Missense_Mutation_p.P997L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 997 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAAGGTGTTCCTGTGCAGTTT 0.507000 32 32 0 0 0.005524 0 0 SLC13A2 9058 broad.mit.edu 37 17 26823500 26823500 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:26823500C>T ENST00000444914.3 + 11 2070 c.1650C>T c.(1648-1650)gtC>gtT p.V550V SLC13A2_ENST00000314669.5_Silent_p.V501V|SLC13A2_ENST00000537681.1_Silent_p.V430V|SLC13A2_ENST00000545060.1_Silent_p.V458V NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 501 I -> V (in dbSNP:rs11567842). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CTCTCTACGTCATGCTCCCCT 0.642000 39 95 0 0 0.006230 0 0 IRF6 3664 broad.mit.edu 37 1 209963884 209963884 + Missense_Mutation SNP C C T rs121434231 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:209963884C>T ENST00000367021.3 - 7 1188 c.1016G>A c.(1015-1017)aGa>aAa p.R339K IRF6_ENST00000542854.1_Missense_Mutation_p.R244K NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 339 R -> I (in VWS). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CTTCTTTTGTCTCTCAATCAG 0.478000 HNSCC(57;0.16) 19 80 0 0 0.007413 0 0 TRPV5 56302 broad.mit.edu 37 7 142606723 142606723 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:142606723G>A ENST00000265310.1 - 14 2176 c.1828C>T c.(1828-1830)Cgc>Tgc p.R610C NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 610 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CACAGGCAGCGAGGCAGCTTC 0.597000 11 12 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179413030 179413030 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:179413030A>T ENST00000589042.1 - 339 93547 c.93323T>A c.(93322-93324)aTt>aAt p.I31108N TTN_ENST00000359218.5_Missense_Mutation_p.I22168N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22235N|TTN_ENST00000591111.1_Missense_Mutation_p.I29467N|TTN_ENST00000460472.2_Missense_Mutation_p.I22043N|TTN_ENST00000342992.6_Missense_Mutation_p.I28540N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29467 Ig-like 139. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTGGCTACAATTGGTTCTGG 0.473000 66 58 0 0 0.003610 0 0 FBXL22 283807 broad.mit.edu 37 15 63893549 63893549 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:63893549G>A ENST00000360587.2 + 2 448 c.408G>A c.(406-408)ggG>ggA p.G136G FBXL22_ENST00000539570.3_Silent_p.G130G|USP3-AS1_ENST00000561256.1_RNA NM_203373.2 NP_976307.2 Q6P050 FXL22_HUMAN F-box and leucine-rich repeat protein 22 130 lung(4) 4 CGTCCTCGGGGACTCCGATCG 0.687000 13 18 0 0 0.001368 0 0 SLC17A8 246213 broad.mit.edu 37 12 100784803 100784803 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:100784803G>A ENST00000323346.5 + 3 692 c.379G>A c.(379-381)Gaa>Aaa p.E127K SLC17A8_ENST00000392989.3_Missense_Mutation_p.E127K NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 127 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 CTGGGATCCAGAAACAGTGGG 0.388000 28 70 0 0 0.001512 0 0 HYDIN 54768 broad.mit.edu 37 16 70998635 70998635 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:70998635C>T ENST00000393567.2 - 37 5934 c.5784G>A c.(5782-5784)gaG>gaA p.E1928E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1928 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCTCACCATTCTCCTGTGCCA 0.493000 7 18 0 0 0.000978 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529698 80529698 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:80529698C>T ENST00000295057.3 - 2 1903 c.1247G>A c.(1246-1248)gGc>gAc p.G416D CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G416D|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 416 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GGCGTGCTCGCCGCCTGGAAG 0.682000 HNSCC(69;0.2) 10 33 0 0 0.000978 0 0 DGAT2 84649 broad.mit.edu 37 11 75509329 75509329 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:75509329C>G ENST00000228027.7 + 7 1127 c.867C>G c.(865-867)atC>atG p.I289M DGAT2_ENST00000376262.3_Missense_Mutation_p.I246M NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 289 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) AGCAGGTGATCTTCGAGGAGG 0.547000 40 145 0 0 0.002522 0 0 FIG4 9896 broad.mit.edu 37 6 110113863 110113863 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:110113863T>C ENST00000230124.3 + 21 2579 c.2455T>C c.(2455-2457)Tca>Cca p.S819P FIG4_ENST00000441478.2_Missense_Mutation_p.S542P NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 819 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CTCCATTTATTCAAGGTGAGA 0.299000 14 20 0 0 0.003163 0 0 VARS 7407 broad.mit.edu 37 6 31762881 31762881 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31762881G>A ENST00000375663.3 - 2 554 c.114C>T c.(112-114)ccC>ccT p.P38P VARS_ENST00000444930.2_Intron NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 38 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GACAGATGCGGGGGTGGGCTC 0.721000 64 293 0 0 0.003610 0 0 OR2T1 26696 broad.mit.edu 37 1 248570074 248570074 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:248570074C>T ENST00000366474.1 + 1 779 c.779C>T c.(778-780)cCt>cTt p.P260L NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGCTGATTCCTTTCTCTGTA 0.507000 18 66 0 0 0.006122 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351405 89351405 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:89351405G>A ENST00000301030.4 - 9 2005 c.1545C>T c.(1543-1545)ttC>ttT p.F515F ANKRD11_ENST00000378330.2_Silent_p.F515F NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 515 Ser-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGAGGGAGCTGAACAGGGAGG 0.647000 18 41 0 0 0.004990 0 0 SMU1 55234 broad.mit.edu 37 9 33048158 33048158 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:33048158G>A ENST00000397149.3 - 11 1439 c.1389C>T c.(1387-1389)gaC>gaT p.D463D SMU1_ENST00000536631.1_Silent_p.D302D NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 463 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) AGAGCACAAAGTCCTCCCCTA 0.438000 13 24 0 0 0.001368 0 0 LILRB2 10288 broad.mit.edu 37 19 54784319 54784319 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:54784319G>A ENST00000391748.1 - 2 160 c.34_splice c.e2+1 p.L11_splice LILRB2_ENST00000314446.5_Splice_Site_p.L11_splice|LILRB2_ENST00000391746.1_Splice_Site_p.L11_splice|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391749.4_Splice_Site_p.L11_splice NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 11 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AAATCTCACCGAGACAGATCA 0.597000 33 80 0 0 0.003271 0 0 CCNI 10983 broad.mit.edu 37 4 77977123 77977123 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:77977123G>A ENST00000237654.4 - 5 1027 c.451C>T c.(451-453)Ctt>Ttt p.L151F CCNI_ENST00000537948.1_Missense_Mutation_p.L137F NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 151 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 ACAATATGAAGAAAATCCAAT 0.318000 27 35 0 0 0.006320 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54917708 54917708 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:54917708C>T ENST00000293373.6 + 20 2203 c.2124C>T c.(2122-2124)taC>taT p.Y708Y NCKAP1L_ENST00000545638.2_Silent_p.Y658Y NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 708 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CTTCTGAGTACCTCAGCAGCC 0.448000 34 60 0 0 0.004878 0 0 UBA7 7318 broad.mit.edu 37 3 49851075 49851075 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:49851075A>C ENST00000333486.3 - 2 220 c.62T>G c.(61-63)gTg>gGg p.V21G UBA7_ENST00000494212.1_5'UTR NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 21 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGAGCCCAGCACATACCTGTG 0.602000 8 29 0 0 0.004482 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72176192 72176192 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:72176192C>T ENST00000555818.1 + 15 4430 c.4082C>T c.(4081-4083)cCc>cTc p.P1361L SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P815L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1340L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1340L|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1361 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AAAGTGGCACCCCTATGGCAC 0.592000 15 23 0 0 0.003163 0 0 PLCB1 23236 broad.mit.edu 37 20 8678295 8678295 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:8678295C>T ENST00000378641.3 + 11 1507 c.1032C>T c.(1030-1032)tcC>tcT p.S344S PLCB1_ENST00000378637.2_Silent_p.S344S|PLCB1_ENST00000338037.6_Silent_p.S344S NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 344 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTGGAAACTCCTCTGTTGAGA 0.522000 34 135 0 0 0.004289 0 0 LIN7A 8825 broad.mit.edu 37 12 81239577 81239577 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:81239577G>A ENST00000552864.1 - 4 617 c.415C>T c.(415-417)Cct>Tct p.P139S NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 139 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 ACCCCTCCAGGAATTATGCGA 0.458000 34 67 0 0 0.003755 0 0 STAB2 55576 broad.mit.edu 37 12 104042572 104042572 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:104042572G>A ENST00000388887.2 + 10 1349 c.1145G>A c.(1144-1146)gGa>gAa p.G382E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 382 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AAATGGCAAGGAAGGCTGACC 0.443000 37 74 0 0 0.006230 0 0 OR6B1 135946 broad.mit.edu 37 7 143701692 143701692 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:143701692C>T ENST00000408922.2 + 1 671 c.603C>T c.(601-603)atC>atT p.I201I NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TAGACTTTATCCTGGCACTGG 0.458000 37 45 0 0 0.006999 0 0 CPT1A 1374 broad.mit.edu 37 11 68529011 68529011 + Missense_Mutation SNP G G A rs75908421 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:68529011G>A ENST00000265641.5 - 16 2174 c.2020C>T c.(2020-2022)Ctt>Ttt p.L674F CPT1A_ENST00000376618.2_Missense_Mutation_p.L674F|CPT1A_ENST00000539743.1_Missense_Mutation_p.L674F|CPT1A_ENST00000540367.1_Missense_Mutation_p.L674F NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 674 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) ACTTCCTTAAGGAAAGGGGAC 0.448000 94 46 0 0 0.003610 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642587 127642587 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:127642587C>T ENST00000405109.1 + 2 1150 c.683C>T c.(682-684)tCt>tTt p.S228F KBTBD12_ENST00000405256.1_Missense_Mutation_p.S228F|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 228 BACK. endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GTAAATCCTTCTTTTTTAAGA 0.383000 22 45 0 0 0.001523 0 0 PTCHD3P1 387647 broad.mit.edu 37 10 29710357 29710357 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:29710357C>T ENST00000427063.2 + 0 1081 PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000413405.1_RNA NR_003930.1 AAATCTTCCTCGTCCCTCCCA 0.483000 16 16 0 0 0.001216 0 0 PDE6C 5146 broad.mit.edu 37 10 95372854 95372854 + Silent SNP G G A rs147367341 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:95372854G>A ENST00000371447.3 + 1 510 c.372G>A c.(370-372)gaG>gaA p.E124E NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 124 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) CCAAGTTTGAGGACAACCTGG 0.552000 20 26 0 0 0.001216 0 0 CASR 846 broad.mit.edu 37 3 121973120 121973120 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:121973120G>C ENST00000498619.1 + 2 522 c.84G>C c.(82-84)aaG>aaC p.K28N CASR_ENST00000490131.1_Missense_Mutation_p.K28N|CASR_ENST00000296154.5_Missense_Mutation_p.K28N NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 28 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GAGCCCAAAAGAAGGGGGACA 0.522000 37 74 0 0 0.003271 0 0 MACF1 23499 broad.mit.edu 37 1 39800079 39800079 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:39800079G>A ENST00000564288.1 + 37 8596 c.7819G>A c.(7819-7821)Gaa>Aaa p.E2607K MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2644K|MACF1_ENST00000372915.3_Missense_Mutation_p.E2612K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1047K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2612 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTTAACTAATGAAGCAGTATT 0.408000 26 42 0 0 0.003330 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409365 59409365 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:59409365C>T ENST00000301645.3 - 3 843 c.706G>A c.(706-708)Gag>Aag p.E236K NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 236 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GCCAGTTTCTCCCGGGCATTG 0.498000 Neonatal Giant Cell Hepatitis 42 224 0 0 0.001951 0 0 EP300 2033 broad.mit.edu 37 22 41573345 41573345 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:41573345C>T ENST00000263253.7 + 31 6849 c.5630C>T c.(5629-5631)cCt>cTt p.P1877L RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1877 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CAGCCTCAGCCTACCCCTCCC 0.647000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 15 125 0 0 0.004007 0 0 OSBPL3 26031 broad.mit.edu 37 7 24902884 24902884 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:24902884C>T ENST00000313367.2 - 9 1256 c.805G>A c.(805-807)Gaa>Aaa p.E269K OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E269K|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E269K NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 269 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GATCTTTTTTCCTTTTTGGGA 0.448000 16 19 0 0 0.006122 0 0 FAM129A 116496 broad.mit.edu 37 1 184787892 184787892 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:184787892C>T ENST00000367511.3 - 9 1246 c.1053G>A c.(1051-1053)ctG>ctA p.L351L FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 351 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TGAGCTCCTCCAGGATGGATG 0.527000 53 207 0 0 0.003610 0 0 SLC38A8 146167 broad.mit.edu 37 16 84063101 84063101 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:84063101G>A ENST00000299709.3 - 5 687 c.688C>T c.(688-690)Cag>Tag p.Q230* NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 230 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 AAAATTACCTGAAACCCGAAG 0.522000 7 29 0 0 0.001984 0 0 CACNA1B 774 broad.mit.edu 37 9 141012397 141012397 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:141012397G>A ENST00000277549.5 + 43 5928 c.e43-1 CACNA1B_ENST00000371372.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTCTGCCACAGACAAAACCAA 0.567000 12 0 0 0 0.002450 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217246 53217246 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:53217246G>A ENST00000342657.3 + 7 1692 c.619G>A c.(619-621)Gga>Aga p.G207R HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G207R|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G207R NM_001011724.1 NP_001011724.1 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 2 207 Gly-rich. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding cervix(1)|large_intestine(1)|lung(5) 7 tggtggtcgtggagatggttt 0.527000 11 19 0 0 0.001368 0 0 DMBT1 1755 broad.mit.edu 37 10 124352006 124352006 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:124352006G>A ENST00000368909.3 + 20 2501 c.2395G>A c.(2395-2397)Gat>Aat p.D799N DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D789N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D799N|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D789N NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 799 SRCR 6. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTTCTGGATGATGTGCGCTG 0.607000 47 55 0 0 0.003214 0 0 GABRB2 2561 broad.mit.edu 37 5 160721399 160721399 + Missense_Mutation SNP C C T rs148772321 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:160721399C>T ENST00000274547.2 - 11 1445 c.1228G>A c.(1228-1230)Gag>Aag p.E410K GABRB2_ENST00000520240.1_Missense_Mutation_p.E372K|GABRB2_ENST00000517547.1_Missense_Mutation_p.E212K|GABRB2_ENST00000353437.6_Missense_Mutation_p.E372K|GABRB2_ENST00000393959.1_Missense_Mutation_p.E410K|GABRB2_ENST00000517901.1_Missense_Mutation_p.E309K NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 410 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTTTTTATCTCGAGAGTGCTC 0.463000 44 74 0 0 0.003610 0 0 ZNF91 7644 broad.mit.edu 37 19 23542432 23542432 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:23542432C>T ENST00000300619.7 - 4 3554 c.3349G>A c.(3349-3351)Gag>Aag p.E1117K ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E1085K NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1117 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E1117Q(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GCTGAGGACTCTTTAAAGGCT 0.408000 15 19 0 0 0.003163 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41735933 41735933 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:41735933C>T ENST00000352645.4 + 10 1187 c.930C>T c.(928-930)atC>atT p.I310I ZC3H7B_ENST00000351589.4_Silent_p.I310I NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 326 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GTGGCTCCATCCCTGTCTCCA 0.687000 17 51 0 0 0.004990 0 0 COBL 23242 broad.mit.edu 37 7 51092834 51092834 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:51092834G>A ENST00000395542.2 - 14 4170 c.3986C>T c.(3985-3987)tCc>tTc p.S1329F COBL_ENST00000265136.7_Missense_Mutation_p.S1247F O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1247 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CCCTGTGCCGGAGCGGATGGC 0.627000 30 78 0 0 0.001786 0 0 ABT1 29777 broad.mit.edu 37 6 26598510 26598510 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:26598510C>T ENST00000274849.1 + 3 487 c.456C>T c.(454-456)acC>acT p.T152T NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 152 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 ACCGTTTCACCTGGTCCCACC 0.557000 30 177 0 0 0.005524 0 0 UNC5C 8633 broad.mit.edu 37 4 96106278 96106278 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:96106278C>T ENST00000453304.1 - 13 2554 c.2206G>A c.(2206-2208)Ggc>Agc p.G736S NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 736 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGGGTGCTGCCTTTAAAATGA 0.473000 26 44 0 0 0.005443 0 0 SCN10A 6336 broad.mit.edu 37 3 38765044 38765044 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:38765044C>T ENST00000449082.2 - 18 3228 c.3228_splice c.e18-1 p.G1077_splice NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1077 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCGTCCACTCCCTGCAGGGGA 0.602000 4 2 0 0 0.000602 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73045673 73045673 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:73045673G>A ENST00000545377.1 + 3 221 c.45G>A c.(43-45)atG>atA p.M15I ARHGEF28_ENST00000287898.5_Missense_Mutation_p.M15I|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.M15I|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.M15I|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.M15I|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.M15I NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GGCAGATGATGATCTATGCGA 0.433000 20 82 0 0 0.001882 0 0 OR5M10 390167 broad.mit.edu 37 11 56345099 56345099 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:56345099C>T ENST00000526812.2 - 1 164 c.99G>A c.(97-99)gcG>gcA p.A33A NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TTAGGTAGATCGCCAGGAACA 0.488000 106 372 0 0 0.003610 0 0 PDIA4 9601 broad.mit.edu 37 7 148701261 148701261 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:148701261C>T ENST00000286091.4 - 10 1795 c.1563G>A c.(1561-1563)aaG>aaA p.K521K NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 521 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CCTTGTTGTTCTTGGGCACTG 0.557000 43 79 0 0 0.003610 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20585984 20585984 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:20585984C>T ENST00000202677.6 - 15 2015 c.1873G>A c.(1873-1875)Ggt>Agt p.G625S RALGAPA2_ENST00000495793.1_5'UTR NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 625 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GACAGCACACCAAGAAAGTCA 0.478000 10 54 0 0 0.006214 0 0 RBM47 54502 broad.mit.edu 37 4 40434799 40434799 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:40434799G>A ENST00000319592.4 - 5 1913 c.1204C>T c.(1204-1206)Cac>Tac p.H402Y RBM47_ENST00000514014.1_Missense_Mutation_p.H433Y|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381793.2_Missense_Mutation_p.H471Y|RBM47_ENST00000295971.7_Missense_Mutation_p.H471Y|RBM47_ENST00000381795.6_Missense_Mutation_p.H402Y A0AV96 RBM47_HUMAN RNA binding motif protein 47 417 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TCCACTGTGTGGATTTTGCCA 0.592000 15 76 0 0 0.003163 0 0 ADAM30 11085 broad.mit.edu 37 1 120437893 120437893 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:120437893C>T ENST00000369400.1 - 1 1225 c.1067G>A c.(1066-1068)aGg>aAg p.R356K NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 356 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAGCCTACCCCTACATTGGCA 0.433000 207 535 0 0 0.003610 0 0 DOCK7 85440 broad.mit.edu 37 1 62993884 62993884 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:62993884C>G ENST00000251157.5 - 31 3907 c.3874G>C c.(3874-3876)Gca>Cca p.A1292P DOCK7_ENST00000340370.5_Missense_Mutation_p.A1261P NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1292 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CCTGCGATTGCCATGGCAACG 0.433000 17 30 0 0 0.004990 0 0 ROBO2 6092 broad.mit.edu 37 3 77595509 77595509 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:77595509C>T ENST00000461745.1 + 7 1855 c.955C>T c.(955-957)Cgg>Tgg p.R319W ROBO2_ENST00000332191.8_Missense_Mutation_p.R319W|ROBO2_ENST00000487694.3_Missense_Mutation_p.R335W NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 319 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GTTTGTGGTTCGGCCAAGAGA 0.393000 57 135 0 0 0.003610 0 0 PLD2 5338 broad.mit.edu 37 17 4722875 4722875 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:4722875C>T ENST00000263088.6 + 23 2591 c.2460C>T c.(2458-2460)ttC>ttT p.F820F PLD2_ENST00000572940.1_Intron NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 820 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AGCACTGCTTCGGGTAGAGCT 0.617000 15 15 0 0 0.003163 0 0 DST 667 broad.mit.edu 37 6 56482908 56482908 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:56482908G>A ENST00000370765.6 - 23 6031 c.5924C>T c.(5923-5925)cCc>cTc p.P1975L DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1374 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTTGTAATGGGGTTTGTCTC 0.433000 23 122 0 0 0.002299 0 0 GRPEL2 134266 broad.mit.edu 37 5 148727858 148727858 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:148727858C>T ENST00000329271.3 + 2 211 c.101C>T c.(100-102)aCt>aTt p.T34I GRPEL2_ENST00000513661.1_Missense_Mutation_p.T34I|RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_Missense_Mutation_p.T34I|GRPEL2_ENST00000507562.1_3'UTR NM_152407.3 NP_689620.2 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial (E. coli) 34 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATTCAGCACTGCCACCCAG 0.507000 57 73 0 0 0.003610 0 0 GPR4 2828 broad.mit.edu 37 19 46094512 46094512 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:46094512G>A ENST00000323040.4 - 2 1557 c.613C>T c.(613-615)Ctg>Ttg p.L205L OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 205 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) ACGGCCCGCAGGATGCCCCGG 0.657000 13 30 0 0 0.001855 0 0 SNRPB 6628 broad.mit.edu 37 20 2442428 2442428 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:2442428G>A ENST00000438552.2 - 7 859 c.697C>T c.(697-699)Ccg>Tcg p.P233S SNRPB_ENST00000381342.2_3'UTR NM_198216.1 NP_937859.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 233 Repeat-rich region. histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 CGCATTCCCGGGGGAGGGGGC 0.552000 17 83 0 0 0.006122 0 0 PCLO 27445 broad.mit.edu 37 7 82544134 82544134 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:82544134C>T ENST00000423517.2 - 7 13505 c.13168G>A c.(13168-13170)Gat>Aat p.D4390N PCLO_ENST00000437081.1_Missense_Mutation_p.D1110N|PCLO_ENST00000333891.8_Missense_Mutation_p.D4390N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4321 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCAAACTGATCCCTGGTGTCT 0.522000 18 18 0 0 0.006122 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999123 27999123 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:27999123T>A ENST00000441525.1 - 1 443 c.329A>T c.(328-330)gAa>gTa p.E110V NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 110 Glu-rich. NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 ctcctccccttcctcctccat 0.517000 21 3 0 0 0.001216 0 0 AMER1 139285 broad.mit.edu 37 X 63410327 63410327 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:63410327G>A ENST00000330258.3 - 2 3112 c.2840C>T c.(2839-2841)tCc>tTc p.S947F AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) AGTATAGAGGGAAAGGGGACT 0.587000 6 1 0 0 0.001984 0 0 SCYL2 55681 broad.mit.edu 37 12 100720500 100720500 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:100720500C>T ENST00000360820.2 + 12 2047 c.1610C>T c.(1609-1611)tCc>tTc p.S537F NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 537 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 CAAATTCCATCCAAGGAACCT 0.333000 18 37 0 0 0.007413 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42276730 42276730 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:42276730C>T ENST00000399518.3 - 19 2776 c.2290G>A c.(2290-2292)Gaa>Aaa p.E764K PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E735K|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 752 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) AGGTAGCATTCCTTGAGATTT 0.502000 12 21 0 0 0.002450 0 0 DNER 92737 broad.mit.edu 37 2 230453181 230453181 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:230453181C>T ENST00000341772.4 - 3 743 c.609G>A c.(607-609)ggG>ggA p.G203G NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 203 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AACTGGCATTCCCACAGGCAA 0.413000 13 28 0 0 0.003163 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564018 33564018 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:33564018C>T ENST00000321505.4 + 1 198 c.18C>T c.(16-18)tcC>tcT p.S6S KIAA1549L_ENST00000389726.3_Silent_p.S6S|KIAA1549L_ENST00000265654.5_Silent_p.S6S KIAA1549-like ACACTGCATCCCAAAATGCCC 0.493000 7 30 0 0 0.001984 0 0 IARS 3376 broad.mit.edu 37 9 95004508 95004508 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:95004508G>A ENST00000375643.3 - 29 3371 c.3105C>T c.(3103-3105)acC>acT p.T1035T IARS_ENST00000443024.2_Silent_p.T1035T|IARS_ENST00000375629.3_Silent_p.T88T|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000447699.2_Silent_p.T925T|IARS_ENST00000375627.1_Silent_p.T88T NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 1035 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CCTTTATGGTGGTAAATATGA 0.383000 21 31 0 0 0.001523 0 0 GCM2 9247 broad.mit.edu 37 6 10874655 10874655 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:10874655G>A ENST00000379491.4 - 5 1241 c.1094C>T c.(1093-1095)cCc>cTc p.P365L SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 365 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) GTACCTGCAGGGAAGCTCTGG 0.572000 45 276 0 0 0.003610 0 0 KNG1 3827 broad.mit.edu 37 3 186459557 186459557 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:186459557G>A ENST00000265023.4 + 10 1584 c.1372G>A c.(1372-1374)Gga>Aga p.G458R RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 458 His-rich. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GCACCAAAGAGGACATGGCCT 0.478000 11 24 0 0 0.001368 0 0 VPS33A 65082 broad.mit.edu 37 12 122750878 122750878 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:122750878G>A ENST00000267199.4 - 1 190 c.78C>T c.(76-78)ttC>ttT p.F26F VPS33A_ENST00000451053.2_Silent_p.F26F|RP11-512M8.5_ENST00000535844.1_Silent_p.F26F NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 26 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) ACTTGTCCAGGAACTCGCGCA 0.672000 12 30 0 0 0.004007 0 0 MTMR11 10903 broad.mit.edu 37 1 149906993 149906993 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:149906993G>A ENST00000439741.2 - 5 604 c.354C>T c.(352-354)ctC>ctT p.L118L MTMR11_ENST00000369140.3_Silent_p.L46L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.L90L|MTMR11_ENST00000361405.6_Silent_p.L118L NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 118 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ACCCTGGACGGAGGAGCTGGA 0.547000 21 42 0 0 0.003330 0 0 MEP1A 4224 broad.mit.edu 37 6 46787321 46787321 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:46787321G>A ENST00000230588.4 + 7 445 c.436G>A c.(436-438)Gga>Aga p.G146R NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 146 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CATTGGCCAAGGATGTGCCTA 0.443000 35 134 0 0 0.002445 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060160 35060160 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:35060160G>A ENST00000373913.3 + 3 520 c.40G>A c.(40-42)Gac>Aac p.D14N DLGAP4_ENST00000339266.5_Missense_Mutation_p.D14N|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D14N|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D14N Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 14 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCACCTCTCCGACAGCCTAGA 0.726000 9 33 0 0 0.004482 0 0 DPYD 1806 broad.mit.edu 37 1 97981388 97981388 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:97981388G>A ENST00000370192.3 - 13 1734 c.1634C>T c.(1633-1635)cCt>cTt p.P545L NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 545 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity p.P545H(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAGACCAAAAGGATTTATAAA 0.458000 24 24 0 0 0.003954 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799105 57799105 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57799105G>A ENST00000302622.3 + 1 704 c.681G>A c.(679-681)tgG>tgA p.W227* OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) ACATCGTCTGGACACTGCTGC 0.542000 53 53 0 0 0.003610 0 0 ADH1C 126 broad.mit.edu 37 4 100268182 100268182 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:100268182C>T ENST00000510055.1 - 0 414 ADH1C_ENST00000515683.1_RNA P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CTGTAGTCACCCCTTCTCAAA 0.517000 55 88 0 0 0.003610 0 0 CD2AP 23607 broad.mit.edu 37 6 47576991 47576991 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:47576991C>T ENST00000359314.5 + 16 2221 c.1765C>T c.(1765-1767)Cag>Tag p.Q589* CD2AP_ENST00000486693.1_3'UTR NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 589 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) ACTTAGAGCCCAGATTATTGA 0.378000 27 123 0 0 0.006320 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245365 137245365 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:137245365T>G ENST00000331858.4 + 2 947 c.782T>G c.(781-783)gTg>gGg p.V261G NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 261 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GTGGGTGTGGTGAAGAGCATC 0.607000 5 16 0 0 0.000602 0 0 NEGR1 257194 broad.mit.edu 37 1 71873147 71873147 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:71873147C>A ENST00000357731.4 - 7 1286 c.1047G>T c.(1045-1047)aaG>aaT p.K349N ZRANB2-AS2_ENST00000430605.1_RNA|NEGR1_ENST00000434200.1_Missense_Mutation_p.K303N|NEGR1_ENST00000306821.3_Missense_Mutation_p.K221N NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 349 cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GAATGGCATTCTTCAGGTAGA 0.428000 12 17 5.50884e-06 9.35575e-06 0.001368 1 0 DST 667 broad.mit.edu 37 6 56335074 56335074 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:56335074G>A ENST00000370754.5 - 96 22234 c.22235C>T c.(22234-22236)cCa>cTa p.P7412L DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.P4820L|DST_ENST00000446842.2_Missense_Mutation_p.P6908L|DST_ENST00000370769.4_Missense_Mutation_p.P7234L|DST_ENST00000421834.2_Missense_Mutation_p.P5119L|DST_ENST00000370788.2_Missense_Mutation_p.P5037L|DST_ENST00000361203.3_Missense_Mutation_p.P7123L Q03001 DYST_HUMAN dystonin 7232 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCGACTGGTTGGAAACTCTAA 0.388000 5 29 0 0 0.001168 0 0 SCN1A 6323 broad.mit.edu 37 2 166848354 166848354 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:166848354C>T ENST00000423058.2 - 26 5448 c.5431G>A c.(5431-5433)Gtt>Att p.V1811I SCN1A_ENST00000409050.1_Missense_Mutation_p.V1783I|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1800I|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1811I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1811 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTCTCCCAAACCTCATAGAAC 0.463000 35 54 0 0 0.004289 0 0 NDST1 3340 broad.mit.edu 37 5 149900862 149900862 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:149900862C>T ENST00000261797.6 + 2 548 c.46C>T c.(46-48)Ccg>Tcg p.P16S NDST1_ENST00000523767.1_Missense_Mutation_p.P16S NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 16 heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACGTGTCCCCGCAGGCTGT 0.647000 24 58 0 0 0.002299 0 0 SETD4 54093 broad.mit.edu 37 21 37417918 37417918 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:37417918G>A ENST00000399215.1 - 5 2060 c.688C>T c.(688-690)Ccg>Tcg p.P230S SETD4_ENST00000399208.2_Missense_Mutation_p.P230S|SETD4_ENST00000332131.4_Missense_Mutation_p.P230S|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.P206S|SETD4_ENST00000399201.1_Missense_Mutation_p.P206S|SETD4_ENST00000399205.1_Missense_Mutation_p.P206S|SETD4_ENST00000399207.1_Missense_Mutation_p.P230S Q9NVD3 SETD4_HUMAN SET domain containing 4 230 SET. autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 TCCAGGTACGGAGCGAGTGCA 0.587000 7 24 0 0 0.003080 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030785 10030785 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:10030785A>T ENST00000378380.3 + 6 1897 c.1568A>T c.(1567-1569)aAt>aTt p.N523I SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.N523I NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 ATGAAGGATAATTATTACAAA 0.428000 18 54 0 0 0.001523 0 0 ITLN1 55600 broad.mit.edu 37 1 160850994 160850994 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:160850994C>T ENST00000326245.3 - 5 629 c.514G>A c.(514-516)Gac>Aac p.D172N ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 172 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AAGCCAGTGTCCGTGCGGTAC 0.562000 84 45 0 0 0.003610 0 0 KCNA5 3741 broad.mit.edu 37 12 5154975 5154975 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:5154975G>A ENST00000252321.3 + 1 1891 c.1662G>A c.(1660-1662)cgG>cgA p.R554R NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 554 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GAGTCCAGCGGAAGGTCAGCG 0.637000 7 19 0 0 0.001984 0 0 MYH3 4621 broad.mit.edu 37 17 10541482 10541482 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:10541482C>T ENST00000583535.1 - 27 3694 c.3607G>A c.(3607-3609)Gag>Aag p.E1203K MYH3_ENST00000226209.7_Missense_Mutation_p.E1203K NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1203 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCCCCAAGCTCGGCCACACTA 0.602000 23 31 0 0 0.002299 0 0 SMG8 55181 broad.mit.edu 37 17 57290427 57290427 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:57290427C>T ENST00000543872.2 + 4 2507 c.2243C>T c.(2242-2244)cCa>cTa p.P748L CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.P748L|SMG8_ENST00000580498.1_3'UTR Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 748 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GAGTATCTCCCAGGCATGCTA 0.443000 69 28 0 0 0.003610 0 0 ABCA2 20 broad.mit.edu 37 9 139910620 139910620 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:139910620G>A ENST00000265662.5 - 22 3258 c.3111C>T c.(3109-3111)atC>atT p.I1037I ABCA2_ENST00000341511.6_Silent_p.I1037I|ABCA2_ENST00000371605.3_Silent_p.I1036I Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1036 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGCCGGTCAGGATGGACCTGG 0.657000 18 24 0 0 0.001882 0 0 KRT7 3855 broad.mit.edu 37 12 52641960 52641960 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52641960G>A ENST00000331817.5 + 8 1388 c.e8-1 KRT7_ENST00000552322.1_Splice_Site NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) TCTGCCCCCAGGTTGGCTGGA 0.582000 12 45 0 0 0.001855 0 0 SEMA3D 223117 broad.mit.edu 37 7 84666346 84666346 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:84666346G>A ENST00000284136.6 - 10 1093 c.1050C>T c.(1048-1050)tcC>tcT p.S350S SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 350 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CTTTGAAGATGGAGCTGGAAA 0.398000 14 14 0 0 0.001855 0 0 PLCL1 5334 broad.mit.edu 37 2 198949641 198949641 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:198949641C>T ENST00000428675.1 + 2 1798 c.1400C>T c.(1399-1401)tCc>tTc p.S467F PLCL1_ENST00000437704.2_Missense_Mutation_p.S369F NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 467 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) ACCCATGTTTCCTTTCGAAGT 0.408000 9 12 0 0 0.004482 0 0 NLRP2 55655 broad.mit.edu 37 19 55496493 55496493 + Silent SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55496493T>C ENST00000543010.1 + 7 2252 c.2109T>C c.(2107-2109)ggT>ggC p.G703G NLRP2_ENST00000339757.7_Silent_p.G681G|NLRP2_ENST00000263437.6_Silent_p.G700G|NLRP2_ENST00000448584.2_Silent_p.G703G|NLRP2_ENST00000537859.1_Silent_p.G681G|NLRP2_ENST00000427260.2_Silent_p.G680G|NLRP2_ENST00000391721.4_Silent_p.G679G|NLRP2_ENST00000538819.1_Silent_p.G679G NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 703 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ATCTGATGGGTCTAGCAATCA 0.453000 20 57 0 0 0.001523 0 0 PDE6A 5145 broad.mit.edu 37 5 149294570 149294570 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:149294570C>T ENST00000255266.5 - 6 1053 c.933_splice c.e6-1 p.E312_splice NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 312 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AAGTTAATTTCCTGGCAAAAG 0.368000 50 58 0 0 0.003610 0 0 EGFR 1956 broad.mit.edu 37 7 55229314 55229314 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:55229314C>T ENST00000275493.2 + 13 1798 c.1621C>T c.(1621-1623)Ctt>Ttt p.L541F EGFR_ENST00000455089.1_Missense_Mutation_p.L496F|EGFR_ENST00000344576.2_Missense_Mutation_p.L541F|EGFR_ENST00000342916.3_Missense_Mutation_p.L541F|EGFR_ENST00000454757.2_Missense_Mutation_p.L488F|EGFR_ENST00000442591.1_Missense_Mutation_p.L541F NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 541 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAAGTGCAACCTTCTGGAGGG 0.532000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 41 119 0 0 0.003610 0 0 DRD3 1814 broad.mit.edu 37 3 113890723 113890723 + Silent SNP G G A rs149122773 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:113890723G>A ENST00000383673.2 - 2 547 c.117C>T c.(115-117)ctC>ctT p.L39L DRD3_ENST00000460779.1_Silent_p.L39L|DRD3_ENST00000467632.1_Silent_p.L39L|DRD3_ENST00000295881.7_Silent_p.L39L NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 39 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding p.L39L(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TGGCCAGGATGAGCGCGCAGT 0.612000 15 22 0 0 0.002450 0 0 UBR4 23352 broad.mit.edu 37 1 19454739 19454739 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:19454739G>A ENST00000375267.2 - 62 9080 c.9077C>T c.(9076-9078)tCc>tTc p.S3026F UBR4_ENST00000375217.2_Missense_Mutation_p.S3019F|UBR4_ENST00000375254.3_Missense_Mutation_p.S3026F|UBR4_ENST00000375226.2_Missense_Mutation_p.S3002F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3026 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AATAAGCTGGGAGAGCAGGTT 0.443000 43 105 0 0 0.003214 0 0 SUOX 6821 broad.mit.edu 37 12 56397697 56397697 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:56397697C>T ENST00000394109.3 + 3 1248 c.524C>T c.(523-525)cCt>cTt p.P175L SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Missense_Mutation_p.P175L|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Missense_Mutation_p.P175L|SUOX_ENST00000394115.2_Missense_Mutation_p.P175L|SUOX_ENST00000356124.4_Missense_Mutation_p.P175L P51687 SUOX_HUMAN sulfite oxidase 175 Hinge (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) ACCTCTGACCCTTATGCTGAT 0.547000 21 50 0 0 0.001523 0 0 FRMPD1 22844 broad.mit.edu 37 9 37744757 37744757 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:37744757G>A ENST00000539465.1 + 16 3321 c.2728G>A c.(2728-2730)Gag>Aag p.E910K FRMPD1_ENST00000377765.3_Missense_Mutation_p.E910K|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 910 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TCCTCTGAGGGAGACCAAGAG 0.582000 17 37 0 0 0.004007 0 0 CAMLG 819 broad.mit.edu 37 5 134076819 134076819 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:134076819C>T ENST00000297156.2 + 2 359 c.239C>T c.(238-240)tCc>tTc p.S80F CAMLG_ENST00000514518.1_Intron NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 80 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) AGCGTTCCTTCCGTTTCAAAG 0.453000 36 54 0 0 0.005524 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799156 57799156 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57799156C>T ENST00000302622.3 + 1 755 c.732C>T c.(730-732)acC>acT p.T244T OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CCTTCTCTACCTGTGCAGCTC 0.527000 42 129 0 0 0.002852 0 0 MUC17 140453 broad.mit.edu 37 7 100679002 100679002 + Silent SNP A A G rs142375735 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:100679002A>G ENST00000306151.4 + 3 4369 c.4305A>G c.(4303-4305)tcA>tcG p.S1435S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1435 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AAGCCACTTCATCTCCTACAA 0.522000 72 117 0 0 0.003610 0 0 IPO11 51194 broad.mit.edu 37 5 61779894 61779894 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:61779894C>T ENST00000325324.6 + 11 1248 c.1079C>T c.(1078-1080)cCt>cTt p.P360L KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.P400L NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 360 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TTCACATATCCTACTTTGACA 0.353000 19 61 0 0 0.001523 0 0 CDR1 1038 broad.mit.edu 37 X 139866474 139866474 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:139866474G>A ENST00000370532.2 - 1 249 c.58C>T c.(58-60)Cct>Tct p.P20S NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 20 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCAACAAAGGTATGTCTTCC 0.423000 98 14 0 0 0.003610 0 0 NBPF20 100288142 broad.mit.edu 37 1 148344720 148344720 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:148344720G>A ENST00000369202.1 - 3 395 c.198C>T c.(196-198)ctC>ctT p.L66L NBPF20_ENST00000414710.2_Silent_p.L66L neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TAAATTTTATGAGGTCTTTAC 0.537000 13 252 0 0 0.006122 0 0 GPR146 115330 broad.mit.edu 37 7 1097763 1097763 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:1097763C>T ENST00000397095.1 + 2 835 c.612C>T c.(610-612)ctC>ctT p.L204L C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPR146_ENST00000297468.3_Silent_p.L204L|C7orf50_ENST00000397098.3_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397100.2_Intron Q96CH1 GP146_HUMAN G protein-coupled receptor 146 204 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1) 8 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) TGGCCACCCTCTACGCGCTGG 0.692000 4 25 0 0 0.000248 0 0 TNFRSF8 943 broad.mit.edu 37 1 12175783 12175783 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:12175783C>T ENST00000263932.2 + 8 1165 c.943C>T c.(943-945)Cag>Tag p.Q315* TNFRSF8_ENST00000417814.2_Nonsense_Mutation_p.Q204* NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 315 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CACCAAGCCCCAGGGTAAGCA 0.622000 9 17 0 0 0.000673 0 0 HERC6 55008 broad.mit.edu 37 4 89311825 89311825 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:89311825G>A ENST00000380265.5 + 4 641 c.458G>A c.(457-459)gGa>gAa p.G153E HERC6_ENST00000264346.7_Missense_Mutation_p.G153E|HERC6_ENST00000273960.3_Missense_Mutation_p.G153E NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 153 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TTTTCGTGGGGAAAGAACAGC 0.478000 16 11 0 0 0.006122 0 0 ANPEP 290 broad.mit.edu 37 15 90328675 90328675 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:90328675G>A ENST00000300060.6 - 21 3122 c.2809C>T c.(2809-2811)Ctg>Ttg p.L937L NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 937 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCTTGCTCCAGGGCCCGGGTG 0.542000 35 61 0 0 0.006999 0 0 OR2G2 81470 broad.mit.edu 37 1 247752336 247752336 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:247752336C>T ENST00000320065.1 + 1 675 c.675C>T c.(673-675)gcC>gcT p.A225A RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCTACATTGCCCACGCAGTGT 0.498000 16 94 0 0 0.004007 0 0 TRGV3 6976 broad.mit.edu 37 7 38398154 38398154 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:38398154C>T ENST00000390346.2 - 0 495 GAATCATTTTCAATTAGATTT 0.483000 34 60 0 0 0.003755 0 0 MCRS1 10445 broad.mit.edu 37 12 49958267 49958267 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:49958267G>A ENST00000550165.1 - 7 820 c.554C>T c.(553-555)tCc>tTc p.S185F MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Missense_Mutation_p.S198F|MCRS1_ENST00000343810.4_Missense_Mutation_p.S185F Q96EZ8 MCRS1_HUMAN microspherule protein 1 185 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 CACTCACTTGGAGATGACAGG 0.607000 7 11 0 0 0.004482 0 0 LHCGR 3973 broad.mit.edu 37 2 48915873 48915873 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:48915873C>T ENST00000294954.7 - 11 1084 c.1063G>A c.(1063-1065)Gat>Aat p.D355N STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.D293N|LHCGR_ENST00000405626.1_Missense_Mutation_p.D328N|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 355 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CCCATAATATCTTCACAGGGA 0.443000 36 85 0 0 0.004878 0 0 ENTHD1 150350 broad.mit.edu 37 22 40161379 40161379 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:40161379G>A ENST00000325157.6 - 6 1318 c.1068C>T c.(1066-1068)ttC>ttT p.F356F NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 356 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CCTGGTTATGGAAAGTAGAAT 0.413000 34 36 0 0 0.004289 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31976210 31976210 + RNA SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31976210T>C ENST00000342991.6 + 0 1953 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GGTACCTCAGTTTCTCCTTTA 0.647000 12 60 0 0 0.002450 0 0 FAM98C 147965 broad.mit.edu 37 19 38899412 38899412 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:38899412G>A ENST00000252530.5 + 8 959 c.940G>A c.(940-942)Gac>Aac p.D314N FAM98C_ENST00000343358.7_Missense_Mutation_p.D232N|FAM98C_ENST00000588262.1_Missense_Mutation_p.R180K NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 314 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAACGTTCCAGACCGGGGGGG 0.562000 28 70 0 0 0.005443 0 0 SPATA18 132671 broad.mit.edu 37 4 52944959 52944959 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:52944959C>T ENST00000295213.4 + 8 1453 c.1079C>T c.(1078-1080)tCg>tTg p.S360L SPATA18_ENST00000419395.2_Missense_Mutation_p.S328L NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 360 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GTGAGAAAATCGTTGACACCA 0.378000 12 153 0 0 0.001368 0 0 OC90 729330 broad.mit.edu 37 8 133051336 133051336 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:133051336G>A ENST00000262283.5 - 10 1179 c.1080C>T c.(1078-1080)acC>acT p.T360T OC90_ENST00000603859.1_Silent_p.T164T|OC90_ENST00000443356.2_Silent_p.T164T|OC90_ENST00000254627.3_Silent_p.T164T Q02509 OC90_HUMAN otoconin 90 164 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCTTATCACAGGTACACAGCA 0.527000 12 32 0 0 0.000978 0 0 SOCS2 8835 broad.mit.edu 37 12 93968785 93968785 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:93968785C>T ENST00000340600.2 + 3 1025 c.427C>T c.(427-429)Ccc>Tcc p.P143S SOCS2_ENST00000549206.1_Missense_Mutation_p.P143S|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.P143S|SOCS2_ENST00000551556.1_Missense_Mutation_p.P143S|SOCS2_ENST00000549122.1_Missense_Mutation_p.P143S NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4 NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1 O14508 SOCS2_HUMAN suppressor of cytokine signaling 2 143 SH2. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1) 14 TCCAGAAGCCCCCCGGAACGG 0.478000 13 37 0 0 0.003163 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927115 130927115 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:130927115C>T ENST00000261655.4 - 8 894 c.731G>A c.(730-732)gGg>gAg p.G244E RIMBP2_ENST00000535703.1_Missense_Mutation_p.G152E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.G152E NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 244 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CTGCTCGTTCCCCAGCGTGCT 0.597000 11 41 0 0 0.000978 0 0 C6orf223 221416 broad.mit.edu 37 6 43968723 43968723 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:43968723G>A ENST00000439969.2 + 2 97 c.94G>A c.(94-96)Gag>Aag p.E32K RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_Intron|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000336600.5_Intron Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 0 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GTTGAGGAAGGAGGGAGTAGA 0.567000 9 60 0 0 0.006214 0 0 AGXT2 64902 broad.mit.edu 37 5 35010218 35010218 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:35010218C>T ENST00000231420.6 - 12 1425 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 409 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GTCCCAACTTCTTGACTGTTT 0.398000 50 56 0 0 0.003610 0 0 MACROD2 140733 broad.mit.edu 37 20 15967391 15967391 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:15967391G>A ENST00000217246.4 + 14 1400 c.1005G>A c.(1003-1005)acG>acA p.T335T MACROD2_ENST00000407045.3_5'UTR|MACROD2_ENST00000378058.3_Silent_p.T100T|MACROD2_ENST00000310348.4_Silent_p.T335T|MACROD2_ENST00000402914.1_Silent_p.T100T NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 335 Glu-rich. T -> M (in dbSNP:rs41275442). breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) ATGATTCAACGAAGAATGAAA 0.338000 10 53 0 0 0.000673 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2274994 2274994 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:2274994C>T ENST00000290974.2 - 10 2568 c.2229G>A c.(2227-2229)acG>acA p.T743T ZFYVE28_ENST00000515312.1_Silent_p.T673T|ZFYVE28_ENST00000511071.1_Silent_p.T713T|ZFYVE28_ENST00000508471.1_Silent_p.T48T NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 743 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TGGCATAGTTCGTCTGCAGCT 0.537000 98 130 0 0 0.003610 0 0 ARAP1 116985 broad.mit.edu 37 11 72406094 72406094 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:72406094G>A ENST00000359373.5 - 27 4476 c.3625C>T c.(3625-3627)Cgc>Tgc p.R1209C ARAP1_ENST00000393605.3_Missense_Mutation_p.R969C|ARAP1_ENST00000429686.1_Missense_Mutation_p.R903C|ARAP1_ENST00000426523.1_Missense_Mutation_p.R964C|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1209C|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1209C|ARAP1_ENST00000334211.8_Missense_Mutation_p.R964C Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1209 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 ACGTTCCGGCGATCCAGGATC 0.612000 98 63 0 0 0.003610 0 0 USP29 57663 broad.mit.edu 37 19 57641248 57641248 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:57641248G>A ENST00000254181.4 + 4 1659 c.1205G>A c.(1204-1206)gGg>gAg p.G402E USP29_ENST00000598197.1_Missense_Mutation_p.G402E NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 402 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAGAATGTGGGGATGAAAAT 0.398000 21 49 0 0 0.003954 0 0 CLIC1 1192 broad.mit.edu 37 6 31700063 31700063 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31700063C>T ENST00000375780.2 - 6 1067 c.495G>A c.(493-495)agG>agA p.R165R CLIC1_ENST00000395892.1_Silent_p.R165R|CLIC1_ENST00000375784.3_Silent_p.R165R|CLIC1_ENST00000375779.2_Silent_p.R165R O00299 CLIC1_HUMAN chloride intracellular channel 1 165 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 CCAAAAACTTCCTCTGAGAGA 0.488000 317 1335 0 0 0.003610 0 0 SCUBE2 57758 broad.mit.edu 37 11 9111275 9111275 + Missense_Mutation SNP C C T rs149203158 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:9111275C>T ENST00000457346.2 - 2 309 c.235G>A c.(235-237)Ggg>Agg p.G79R SCUBE2_ENST00000450649.2_Missense_Mutation_p.G79R|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000520467.1_Missense_Mutation_p.G79R|SCUBE2_ENST00000309263.3_Missense_Mutation_p.G79R Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 79 EGF-like 1; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CTGCCTTCCCCTTGGTAGCCA 0.577000 42 41 0 0 0.002222 0 0 GPR155 151556 broad.mit.edu 37 2 175333751 175333751 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:175333751G>A ENST00000392552.2 - 5 1309 c.1071C>T c.(1069-1071)atC>atT p.I357I GPR155_ENST00000392551.2_Silent_p.I357I|GPR155_ENST00000295500.4_Silent_p.I357I NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 357 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 AAACGTACATGATGGGAGCAG 0.393000 27 32 0 0 0.004656 0 0 APAF1 317 broad.mit.edu 37 12 99060005 99060005 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:99060005T>C ENST00000357310.1 + 9 1809 c.1232T>C c.(1231-1233)gTt>gCt p.V411A APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.V400A|APAF1_ENST00000547045.1_Missense_Mutation_p.V411A|APAF1_ENST00000549007.1_Missense_Mutation_p.V411A|APAF1_ENST00000551964.1_Missense_Mutation_p.V411A|APAF1_ENST00000339433.3_Missense_Mutation_p.V411A|APAF1_ENST00000550527.1_Missense_Mutation_p.V400A|APAF1_ENST00000552268.1_Intron NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 411 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) ACTGAAGAAGTTGAAGACATA 0.348000 27 86 0 0 0.001786 0 0 KRT84 3890 broad.mit.edu 37 12 52778905 52778905 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:52778905G>A ENST00000257951.3 - 1 531 c.465C>T c.(463-465)gaC>gaT p.D155D RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 155 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GGGCATTGGGGTCAATCTCCA 0.502000 57 312 0 0 0.003610 0 0 FBN2 2201 broad.mit.edu 37 5 127640745 127640745 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:127640745C>T ENST00000508053.1 - 51 6678 c.5704G>A c.(5704-5706)Gtt>Att p.V1902I FBN2_ENST00000262464.4_Missense_Mutation_p.V1902I P35556 FBN2_HUMAN fibrillin 2 1902 EGF-like 31; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGACTGCAAACGTTAGGAATT 0.368000 12 36 0 0 0.001855 0 0 QRICH1 54870 broad.mit.edu 37 3 49070589 49070589 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:49070589G>A ENST00000395443.2 - 7 2331 c.1859C>T c.(1858-1860)tCc>tTc p.S620F QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.S620F|QRICH1_ENST00000424300.1_Missense_Mutation_p.S620F NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 620 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CAGCAAGGTGGAGGGGGAGTG 0.517000 18 61 0 0 0.001882 0 0 NAA11 84779 broad.mit.edu 37 4 80246504 80246504 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:80246504C>T ENST00000286794.4 - 1 700 c.528G>A c.(526-528)gaG>gaA p.E176E NAA11_ENST00000513733.1_5'UTR NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 176 cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 TCTCCTGGTTCTCCCTGGAGC 0.537000 15 17 0 0 0.004990 0 0 PLXNA1 5361 broad.mit.edu 37 3 126736441 126736441 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:126736441C>T ENST00000393409.2 + 17 3450 c.3450C>T c.(3448-3450)ccC>ccT p.P1150P PLXNA1_ENST00000251772.4_Silent_p.P1127P NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1150 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACCCTGACCCCGTACTGGAGC 0.642000 46 141 0 0 0.003610 0 0 GBF1 8729 broad.mit.edu 37 10 104103904 104103904 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:104103904C>T ENST00000369983.3 + 4 520 c.260C>T c.(259-261)aCc>aTc p.T87I NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 87 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTGGCACTCACCTCTGTCAAC 0.498000 33 52 0 0 0.003271 0 0 COL3A1 1281 broad.mit.edu 37 2 189875061 189875061 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:189875061G>A ENST00000304636.3 + 49 4151 c.3981G>A c.(3979-3981)tgG>tgA p.W1327* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.W1024* NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1327 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AACACGTTTGGTTTGGAGAGT 0.393000 30 29 0 0 0.002836 0 0 OR8A1 390275 broad.mit.edu 37 11 124440145 124440145 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:124440145G>A ENST00000284287.3 + 1 253 c.181G>A c.(181-183)Ggc>Agc p.G61S NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 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;0.0214) GGGGAACCTGGGCATGATCAC 0.502000 21 43 0 0 0.001216 0 0 EPHA2 1969 broad.mit.edu 37 1 16458768 16458768 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:16458768C>T ENST00000358432.5 - 13 2270 c.2115_splice c.e13-1 p.E706_splice NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 706 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CCATCCTTCTCCTGCCGGAGC 0.657000 18 23 0 0 0.007413 0 0 LRRK2 120892 broad.mit.edu 37 12 40677810 40677810 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:40677810G>A ENST00000298910.7 + 19 2433 c.2375G>A c.(2374-2376)aGg>aAg p.R792K LRRK2_ENST00000343742.2_Missense_Mutation_p.R792K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 792 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTGCTCTTAAGGAGGCTGGCC 0.443000 27 59 0 0 0.007291 0 0 NCOA6 23054 broad.mit.edu 37 20 33345249 33345249 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:33345249G>A ENST00000374796.2 - 8 3872 c.1302C>T c.(1300-1302)tcC>tcT p.S434S NCOA6_ENST00000359003.2_Silent_p.S434S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 434 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CCTGCTGGAAGGAGGAGGGTG 0.582000 16 63 0 0 0.003163 0 0 MYRIP 25924 broad.mit.edu 37 3 40291796 40291796 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:40291796G>A ENST00000302541.6 + 14 2688 c.2346G>A c.(2344-2346)cgG>cgA p.R782R MYRIP_ENST00000396217.3_Silent_p.R693R|MYRIP_ENST00000425621.1_Silent_p.R717R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.R595R|MYRIP_ENST00000444716.1_Silent_p.R782R NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 782 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CAAGAAGACGGGATCAGAAGC 0.438000 25 41 0 0 0.003330 0 0 GKN2 200504 broad.mit.edu 37 2 69174314 69174314 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:69174314G>A ENST00000481498.1 - 4 298 c.280C>T c.(280-282)Ctg>Ttg p.L94L GKN2_ENST00000328895.4_Silent_p.L94L Q86XP6 GKN2_HUMAN gastrokine 2 94 BRICHOS. extracellular region autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 AGATTGTTCAGAGGAGGGATG 0.463000 28 108 0 0 0.001512 0 0 KLB 152831 broad.mit.edu 37 4 39409047 39409047 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:39409047C>T ENST00000257408.4 + 1 575 c.478C>T c.(478-480)Ccc>Tcc p.P160S NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 160 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AAGGCTTTTCCCCGATGGAAT 0.383000 56 130 0 0 0.003610 0 0 IL7R 3575 broad.mit.edu 37 5 35876214 35876214 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:35876214G>A ENST00000303115.3 + 8 1135 c.1006G>A c.(1006-1008)Gag>Aag p.E336K IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 336 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AGAAGAATCTGAGAAGCAGAG 0.478000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 14 40 0 0 0.004007 0 0 ZFP69B 65243 broad.mit.edu 37 1 40928260 40928260 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:40928260C>T ENST00000411995.2 + 6 979 c.604C>T c.(604-606)Caa>Taa p.Q202* ZFP69B_ENST00000361584.3_Nonsense_Mutation_p.Q100*|ZFP69B_ENST00000484445.1_3'UTR NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B ACAAGAGAACCAAAGAATGGG 0.398000 52 118 0 0 0.003610 0 0 FAM83A 84985 broad.mit.edu 37 8 124195459 124195459 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:124195459G>A ENST00000518448.1 + 2 2377 c.363G>A c.(361-363)tgG>tgA p.W121* FAM83A_ENST00000546351.1_Nonsense_Mutation_p.W121*|FAM83A_ENST00000276699.6_Nonsense_Mutation_p.W121*|FAM83A_ENST00000318462.6_Nonsense_Mutation_p.W121*|FAM83A_ENST00000522648.1_Nonsense_Mutation_p.W121*|FAM83A_ENST00000536633.1_Nonsense_Mutation_p.W121* Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 121 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TGCACAGCTGGGCCTCAGCTG 0.612000 27 119 0 0 0.001786 0 0 ECEL1 9427 broad.mit.edu 37 2 233350918 233350918 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:233350918G>A ENST00000304546.1 - 2 656 c.446C>T c.(445-447)aCc>aTc p.T149I ECEL1_ENST00000409941.1_Missense_Mutation_p.T149I NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 149 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGCCGCGATGGTGCCATAGGT 0.726000 7 11 0 0 0.003080 0 0 ASCC3 10973 broad.mit.edu 37 6 101296463 101296463 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:101296463G>A ENST00000369162.2 - 4 706 c.362C>T c.(361-363)cCc>cTc p.P121L ASCC3_ENST00000522650.1_Missense_Mutation_p.P121L NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TGAAGGAAAGGGGCCAAACAT 0.408000 20 14 0 0 0.001216 0 0 MUC17 140453 broad.mit.edu 37 7 100686884 100686884 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:100686884C>T ENST00000306151.4 + 3 12251 c.12187C>T c.(12187-12189)Cca>Tca p.P4063S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4063 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCACACCATCCCACCTACATT 0.547000 34 44 0 0 0.003755 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563511 140563511 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:140563511C>T ENST00000361016.2 + 1 2532 c.1377C>T c.(1375-1377)ttC>ttT p.F459F NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 459 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.F459F(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.582000 61 112 0 0 0.003610 0 0 METTL2A 339175 broad.mit.edu 37 17 60503710 60503710 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:60503710C>T ENST00000311506.5 + 3 289 c.253C>T c.(253-255)Cac>Tac p.H85Y NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 85 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) CTACAAAATCCACGAAAATGG 0.348000 11 47 0 0 0.001855 0 0 C12orf40 283461 broad.mit.edu 37 12 40041606 40041606 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:40041606G>A ENST00000324616.5 + 6 551 c.397G>A c.(397-399)Gac>Aac p.D133N C12orf40_ENST00000405531.3_Missense_Mutation_p.D133N|C12orf40_ENST00000398716.1_Missense_Mutation_p.D56N NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 133 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ACAAGGCATGGACTCATATAG 0.328000 10 33 0 0 0.001368 0 0 LIMK2 3985 broad.mit.edu 37 22 31662023 31662023 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:31662023C>T ENST00000331728.4 + 8 1060 c.946C>T c.(946-948)Cgt>Tgt p.R316C LIMK2_ENST00000340552.4_Missense_Mutation_p.R295C|LIMK2_ENST00000406516.1_Missense_Mutation_p.R238C|LIMK2_ENST00000444929.2_Missense_Mutation_p.R70C|LIMK2_ENST00000333611.4_Missense_Mutation_p.R295C NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 316 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 AGAATCCCTTCGTTGTTCCAG 0.577000 34 35 0 0 0.004289 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999085 143999085 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:143999085C>T ENST00000323110.2 - 1 174 c.172G>A c.(172-174)Gag>Aag p.E58K NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 58 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TAACCCTGCTCCCTCCAGATC 0.637000 Familial Hyperaldosteronism type I 40 82 0 0 0.005524 0 0 NAT10 55226 broad.mit.edu 37 11 34135386 34135386 + Splice_Site SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:34135386G>A ENST00000257829.3 + 5 701 c.e5+1 NAT10_ENST00000531159.2_Splice_Site|NAT10_ENST00000527971.1_Splice_Site NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) AGTGACTATGGTAAGCATCTG 0.443000 57 24 0 0 0.003610 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99627572 99627572 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:99627572C>T ENST00000324306.6 + 4 903 c.669C>T c.(667-669)tcC>tcT p.S223S ZKSCAN1_ENST00000535170.1_Silent_p.S10S|ZKSCAN1_ENST00000426572.1_Silent_p.S187S NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 223 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CAGCGGATTCCCAGGTGAGCT 0.597000 13 20 0 0 0.001855 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66298428 66298428 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:66298428C>T ENST00000419755.3 + 15 1726 c.1648C>T c.(1648-1650)Cct>Tct p.P550S ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.P416S|BBS1_ENST00000393994.2_Missense_Mutation_p.P384S|BBS1_ENST00000318312.7_Missense_Mutation_p.P513S AACAACCCGTCCTGTCCTGGG 0.567000 22 54 0 0 0.002299 0 0 PCNT 5116 broad.mit.edu 37 21 47864622 47864622 + Silent SNP A A G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:47864622A>G ENST00000359568.5 + 46 9962 c.9855A>G c.(9853-9855)ccA>ccG p.P3285P PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 3285 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CTCCATCCCCAAATTCAAGAT 0.403000 16 26 0 0 0.004990 0 0 DNER 92737 broad.mit.edu 37 2 230253045 230253045 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:230253045C>T ENST00000341772.4 - 11 1925 c.1791G>A c.(1789-1791)ctG>ctA p.L597L NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 597 EGF-like 10; calcium-binding (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGGGCTGGTCCAGGCAGCTCC 0.498000 49 76 0 0 0.003610 0 0 DNAH17 8632 broad.mit.edu 37 17 76457737 76457737 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:76457737C>T ENST00000389840.5 - 58 9310 c.9186G>A c.(9184-9186)aaG>aaA p.K3062K DNAH17_ENST00000585328.1_Silent_p.K3071K|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGCTCTCATTCTTCTGCTTGA 0.557000 8 14 0 0 0.003080 0 0 PTPRB 5787 broad.mit.edu 37 12 70953240 70953240 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:70953240C>T ENST00000334414.6 - 18 4641 c.4597G>A c.(4597-4599)Gaa>Aaa p.E1533K PTPRB_ENST00000551525.1_Missense_Mutation_p.E1532K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1225K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1225K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1315K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1445K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1225K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1315 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATGCGTCCTTCTGATTTTCTG 0.468000 62 170 0 0 0.003610 0 0 FHOD1 29109 broad.mit.edu 37 16 67281298 67281298 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:67281298C>T ENST00000258201.4 - 1 263 c.16G>A c.(16-18)Gac>Aac p.D6N FHOD1_ENST00000567687.1_Missense_Mutation_p.D6N NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 6 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TCCCCGCGGTCTTCCCCGCCC 0.677000 7 12 0 0 0.001984 0 0 GSS 2937 broad.mit.edu 37 20 33519905 33519905 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:33519905G>A ENST00000216951.2 - 10 964 c.866C>T c.(865-867)tCa>tTa p.S289L GSS_ENST00000451957.2_Missense_Mutation_p.S178L|GSS_ENST00000541098.1_Missense_Mutation_p.S161L NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 289 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GGCAGCATGTGACCTCTCCAG 0.517000 30 117 0 0 0.003755 0 0 CCL15 6359 broad.mit.edu 37 17 34324841 34324841 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:34324841G>A ENST00000354059.4 - 4 856 c.304C>T c.(304-306)Cag>Tag p.Q102* CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Nonsense_Mutation_p.Q102* NM_032965.4 NP_116741.1 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 102 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATGCAATCCTGAACTCCCGGA 0.498000 15 17 0 0 0.004990 0 0 DSC1 1823 broad.mit.edu 37 18 28719835 28719835 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:28719835A>C ENST00000257197.3 - 11 1800 c.1539T>G c.(1537-1539)gaT>gaG p.D513E DSC1_ENST00000257198.5_Missense_Mutation_p.D513E|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 513 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGTTATCTTCATCCCCTAACT 0.299000 12 23 0 0 0.002450 0 0 TOX 9760 broad.mit.edu 37 8 59720828 59720828 + Splice_Site SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:59720828C>T ENST00000361421.1 - 8 1613 c.1392_splice c.e8-1 p.G465_splice NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 465 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGAGTAAATCCCTGAAAGGGA 0.418000 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 74 0 0 0.007413 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858354 54858354 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:54858354C>T ENST00000333896.5 + 15 3516 c.3131C>T c.(3130-3132)tCc>tTc p.S1044F SPTBN1_ENST00000356805.4_Missense_Mutation_p.S1057F NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1057 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CGAGAGGCCTCCCTGGGAGAG 0.632000 20 48 0 0 0.001523 0 0 SHANK2 22941 broad.mit.edu 37 11 70333519 70333519 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:70333519G>A ENST00000338508.4 - 32 2881 c.2882C>T c.(2881-2883)tCc>tTc p.S961F SHANK2_ENST00000449833.2_Missense_Mutation_p.S365F|SHANK2_ENST00000423696.2_Missense_Mutation_p.S581F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S364F Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 581 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGAGTCCAAGGAGTAGCGGTC 0.592000 17 219 0 0 0.004990 0 0 C2orf16 84226 broad.mit.edu 37 2 27800886 27800886 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:27800886G>A ENST00000408964.2 + 1 1498 c.1447G>A c.(1447-1449)Gat>Aat p.D483N NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 483 p.D483H(2) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AGAGCCACTAGATCAAGTCAC 0.423000 18 46 0 0 0.004990 0 0 MIR568 693153 broad.mit.edu 37 3 114035333 114035333 + RNA SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:114035333C>T ENST00000385036.1 - 0 83 NR_030293.1 atatacacacctatacatgta 0.303000 5 11 0 0 0.000602 0 0 DNAH11 8701 broad.mit.edu 37 7 21657364 21657364 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:21657364G>A ENST00000328843.6 + 23 4269 c.4238G>A c.(4237-4239)aGg>aAg p.R1413K DNAH11_ENST00000409508.3_Missense_Mutation_p.R1408K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1413 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTCAGGGACAGGCATTGGCAC 0.512000 Kartagener syndrome 15 31 0 0 0.003163 0 0 IL36B 27177 broad.mit.edu 37 2 113786623 113786623 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:113786623C>T ENST00000259213.4 - 4 261 c.154G>A c.(154-156)Gaa>Aaa p.E52K IL36B_ENST00000327407.2_Missense_Mutation_p.E52K NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 52 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TCACTGAATTCTGTGTCTCTA 0.428000 26 32 0 0 0.005443 0 0 RANBP2 5903 broad.mit.edu 37 2 109383770 109383770 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:109383770C>T ENST00000283195.6 + 20 6901 c.6775C>T c.(6775-6777)Cgt>Tgt p.R2259C NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2259 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AAATCTTTTCCGTTTTGGTGA 0.403000 113 160 0 0 0.003610 0 0 ZNF197 10168 broad.mit.edu 37 3 44683587 44683587 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:44683587A>C ENST00000396058.1 + 5 1132 c.965A>C c.(964-966)aAg>aCg p.K322T ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.K322T O14709 ZN197_HUMAN zinc finger protein 197 322 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GATACAGTGAAGAAAGTTTCC 0.443000 15 28 0 0 0.003163 0 0 GALNT16 57452 broad.mit.edu 37 14 69800304 69800304 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:69800304G>A ENST00000337827.4 + 9 1281 c.954G>A c.(952-954)ggG>ggA p.G318G GALNT16_ENST00000448469.3_Silent_p.G318G|GALNT16_ENST00000553669.1_Silent_p.G318G NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 ACATCTGGGGGGGAGAGAATT 0.473000 25 29 0 0 0.007291 0 0 NMU 10874 broad.mit.edu 37 4 56466727 56466727 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:56466727G>A ENST00000264218.3 - 8 556 c.451C>T c.(451-453)Ccc>Tcc p.P151S NMU_ENST00000511469.1_Missense_Mutation_p.P135S|NMU_ENST00000507338.1_Missense_Mutation_p.P126S|NMU_ENST00000505262.1_Missense_Mutation_p.P124S|NMU_ENST00000515325.1_5'UTR NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U 151 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) CTTGCAAAGGGACTTTGGAAT 0.313000 21 44 0 0 0.001882 0 0 PCLO 27445 broad.mit.edu 37 7 82763746 82763746 + Silent SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:82763746A>T ENST00000423517.2 - 3 3457 c.3120T>A c.(3118-3120)ccT>ccA p.P1040P PCLO_ENST00000333891.8_Silent_p.P1040P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 986 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGCCTTTTGAGGCTCAGCTG 0.423000 12 16 0 0 0.001855 0 0 EHMT2 10919 broad.mit.edu 37 6 31860665 31860665 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:31860665G>A ENST00000395728.3 - 4 775 c.776C>T c.(775-777)cCc>cTc p.P259L EHMT2_ENST00000375528.4_Missense_Mutation_p.P259L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.P202L|EHMT2_ENST00000375530.4_Missense_Mutation_p.P202L Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 202 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TATTTCAGGGGGCCGCTTCTC 0.617000 96 809 0 0 0.003610 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107257 27107257 + Missense_Mutation SNP G G A rs140361782 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:27107257G>A ENST00000354348.2 + 1 182 c.170G>A c.(169-171)gGa>gAa p.G57E HIST1H2BK_ENST00000396891.4_Intron NM_003495.2 NP_003486.1 P62805 H4_HUMAN histone cluster 1, H4i 57 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 GAGACCCGCGGAGTGTTGAAG 0.632000 T BCL6 NHL 15 64 0 0 0.003163 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765793 77765793 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:77765793C>T ENST00000521891.2 + 10 7084 c.6636C>T c.(6634-6636)ccC>ccT p.P2212P ZFHX4_ENST00000050961.6_Silent_p.P2167P|ZFHX4_ENST00000455469.2_Silent_p.P2167P|ZFHX4_ENST00000518282.1_Silent_p.P2186P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2167 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATCCACAGCCCACCTCTTTAG 0.373000 HNSCC(33;0.089) 31 132 0 0 0.001786 0 0 ACAN 176 broad.mit.edu 37 15 89398703 89398703 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr15:89398703C>T ENST00000439576.2 + 12 3261 c.2887C>T c.(2887-2889)Cta>Tta p.L963L ACAN_ENST00000559004.1_Silent_p.L963L|ACAN_ENST00000352105.7_Silent_p.L963L|ACAN_ENST00000561243.1_Silent_p.L963L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 963 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGGAGAAGTTCTAGAGACCTC 0.567000 28 45 0 0 0.005443 0 0 TRIM38 10475 broad.mit.edu 37 6 25983665 25983665 + Missense_Mutation SNP G G T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:25983665G>T ENST00000357085.3 + 8 1624 c.1148G>T c.(1147-1149)tGg>tTg p.W383L TRIM38_ENST00000349458.3_Missense_Mutation_p.W383L NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 383 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 TCTGGATTCTGGACCCTCAGG 0.502000 6 153 0.00116845 0.00197332 0.001168 1 0 OXCT2 64064 broad.mit.edu 37 1 40236126 40236126 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:40236126G>A ENST00000327582.5 - 1 894 c.802C>T c.(802-804)Cgc>Tgc p.R268C BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 268 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) TTTATCACGCGATCTACATAA 0.537000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 70 0 0 0.002836 0 0 ZC3H3 23144 broad.mit.edu 37 8 144557690 144557690 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:144557690G>A ENST00000262577.5 - 5 1812 c.1781C>T c.(1780-1782)cCt>cTt p.P594L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 594 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCGCCACCAAGGGGAGCCCGG 0.642000 9 25 0 0 0.004482 0 0 KCNB1 3745 broad.mit.edu 37 20 47989747 47989747 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:47989747G>A ENST00000371741.4 - 2 2516 c.2350C>T c.(2350-2352)Ccg>Tcg p.P784S NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 784 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTGAACTTCGGACTGGTGCTC 0.537000 112 290 0 0 0.003610 0 0 BPIFB4 149954 broad.mit.edu 37 20 31671494 31671494 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:31671494G>A ENST00000375483.3 + 3 491 c.491G>A c.(490-492)gGg>gAg p.G164E NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 164 Gly-rich. cytoplasm|extracellular region lipid binding GTTGCCACTGGGGCGGTGGGC 0.677000 20 59 0 0 0.001216 0 0 FZD10 11211 broad.mit.edu 37 12 130648609 130648609 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:130648609G>A ENST00000539839.1 + 1 1606 c.1024G>A c.(1024-1026)Ggt>Agt p.G342S FZD10_ENST00000229030.4_Silent_p.R374R NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCATGCGCAGGGTGGCGGGGG 0.657000 9 31 0 0 0.001368 0 0 PPL 5493 broad.mit.edu 37 16 4941922 4941922 + Missense_Mutation SNP T T G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:4941922T>G ENST00000345988.2 - 16 1947 c.1858A>C c.(1858-1860)Agc>Cgc p.S620R PPL_ENST00000590782.2_Missense_Mutation_p.S618R NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 620 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGCTGCAGGCTCTTCTCCAGG 0.627000 34 50 0 0 0.004289 0 0 OPN4 94233 broad.mit.edu 37 10 88416026 88416026 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:88416026G>A ENST00000372071.2 + 2 486 c.259G>A c.(259-261)Ggc>Agc p.G87S OPN4_ENST00000241891.5_Missense_Mutation_p.G87S NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 87 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 GGGGATGCTGGGCAACCTGAC 0.612000 33 51 0 0 0.004878 0 0 MUC16 94025 broad.mit.edu 37 19 9068506 9068506 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:9068506C>T ENST00000397910.4 - 3 19143 c.18940G>A c.(18940-18942)Gaa>Aaa p.E6314K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6316 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAATAGAATTCATTTGGTGAA 0.463000 21 57 0 0 0.001882 0 0 SDK1 221935 broad.mit.edu 37 7 4185409 4185409 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:4185409G>A ENST00000404826.2 + 29 4423 c.4284G>A c.(4282-4284)gtG>gtA p.V1428V SDK1_ENST00000389531.3_Silent_p.V1428V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1428 Fibronectin type-III 8. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCACCACCGTGGAGGTCGGCG 0.662000 25 193 0 0 0.005443 0 0 FOLH1 2346 broad.mit.edu 37 11 49168382 49168382 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:49168382C>G ENST00000340334.7 - 20 2502 c.2134G>C c.(2134-2136)Gaa>Caa p.E712Q FOLH1_ENST00000343844.4_Missense_Mutation_p.E419Q|FOLH1_ENST00000256999.2_Missense_Mutation_p.E727Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.E696Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.E681Q NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 727 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CTCTTCACTTCTCCCCAGGCC 0.463000 32 41 0 0 0.001512 0 0 NAE1 8883 broad.mit.edu 37 16 66844305 66844305 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:66844305G>A ENST00000379463.2 - 16 1296 c.1104C>T c.(1102-1104)tcC>tcT p.S368S NAE1_ENST00000394074.2_Silent_p.S285S|NAE1_ENST00000359087.4_Silent_p.S377S|NAE1_ENST00000290810.3_Silent_p.S374S NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 374 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TCTCTGAAATGGACTCTGGTG 0.378000 33 63 0 0 0.006230 0 0 TP63 8626 broad.mit.edu 37 3 189455616 189455616 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:189455616C>T ENST00000264731.3 + 2 239 c.150C>T c.(148-150)ctC>ctT p.L50L TP63_ENST00000320472.5_Silent_p.L50L|TP63_ENST00000392460.3_Silent_p.L50L|TP63_ENST00000440651.2_Silent_p.L50L|TP63_ENST00000382063.4_Silent_p.L50L|TP63_ENST00000418709.2_Silent_p.L50L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 50 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ATGAATTCCTCAGTCCAGAGG 0.398000 HNSCC(45;0.13) 16 42 0 0 0.004007 0 0 ELMO2 63916 broad.mit.edu 37 20 44999142 44999142 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:44999142G>A ENST00000372176.1 - 20 2028 c.1560C>T c.(1558-1560)gcC>gcT p.A520A ELMO2_ENST00000439931.2_Silent_p.A620A|ELMO2_ENST00000445496.2_Silent_p.A425A|ELMO2_ENST00000454865.2_Silent_p.A340A|ELMO2_ENST00000290246.6_Silent_p.A608A|ELMO2_ENST00000396391.1_Silent_p.A608A|ELMO2_ENST00000352077.2_Silent_p.A606A Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 608 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CAGTGACAATGGCCTTAATGT 0.473000 27 87 0 0 0.002836 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964532 119964532 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:119964532C>T ENST00000543831.1 + 4 657 c.408C>T c.(406-408)atC>atT p.I136I HSD3B2_ENST00000369416.3_Silent_p.I136I NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 136 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) ACAAGGAAATCATCCAGAACG 0.542000 35 89 0 0 0.002836 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378000 55378000 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55378000G>A ENST00000326321.3 + 9 1215 c.1182G>A c.(1180-1182)caG>caA p.Q394Q KIR3DL2_ENST00000270442.5_Silent_p.Q377Q|KIR3DL1_ENST00000402254.2_Silent_p.Q394Q NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 394 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) AAGACCCTCAGGAGGTGACGT 0.498000 105 214 0 0 0.003610 0 0 DNAAF3 352909 broad.mit.edu 37 19 55670904 55670904 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:55670904G>A ENST00000527223.2 - 11 1437 c.1436C>T c.(1435-1437)gCc>gTc p.A479V DNAAF3_ENST00000391720.4_Missense_Mutation_p.A459V|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A358V|CTD-2587H24.4_ENST00000587871.1_Silent_p.S73S|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A412V|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 412 GACTCACCGGGCTAATTCCAC 0.597000 41 115 0 0 0.003610 0 0 CA10 56934 broad.mit.edu 37 17 50008441 50008441 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:50008441C>T ENST00000451037.2 - 3 1128 c.188G>A c.(187-189)gGg>gAg p.G63E CA10_ENST00000570565.1_5'UTR|CA10_ENST00000285273.4_Missense_Mutation_p.G63E|CA10_ENST00000442502.2_Missense_Mutation_p.G63E|CA10_ENST00000340813.6_Missense_Mutation_p.G69E NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 63 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTGCCGTTTCCCCACAGAGCA 0.488000 49 253 0 0 0.003610 0 0 OR10H5 284433 broad.mit.edu 37 19 15905792 15905792 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:15905792C>T ENST00000308940.8 + 1 1032 c.934C>T c.(934-936)Cca>Tca p.P312S NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CAAACTCTTTCCACAGAACTG 0.488000 10 9 0 0 0.000673 0 0 OGFR 11054 broad.mit.edu 37 20 61444274 61444274 + Missense_Mutation SNP C C A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:61444274C>A ENST00000370461.1 + 5 3428 c.1151C>A c.(1150-1152)cCt>cAt p.P384H OGFR_ENST00000290291.6_Missense_Mutation_p.P436H|OGFR_ENST00000370468.3_Missense_Mutation_p.P436H Q9NZT2 OGFR_HUMAN opioid growth factor receptor 436 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GGTCAGGACCCTGGGGAGGCA 0.662000 17 26 0.00498961 0.00841943 0.004990 1 0 INTS3 65123 broad.mit.edu 37 1 153721217 153721217 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:153721217C>T ENST00000318967.2 + 6 1138 c.570C>T c.(568-570)atC>atT p.I190I INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Silent_p.I190I NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 191 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTCTGGATATCCTGACAGAGC 0.468000 82 240 0 0 0.003610 0 0 BAI2 576 broad.mit.edu 37 1 32204490 32204490 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:32204490G>A ENST00000373658.3 - 16 2885 c.2544C>T c.(2542-2544)ccC>ccT p.P848P BAI2_ENST00000398547.1_Silent_p.P781P|BAI2_ENST00000527361.1_Silent_p.P848P|BAI2_ENST00000398542.1_Silent_p.P781P|BAI2_ENST00000373655.2_Silent_p.P848P|BAI2_ENST00000257070.4_Silent_p.P848P|BAI2_ENST00000398556.3_Silent_p.P796P|BAI2_ENST00000440175.2_Silent_p.P490P|BAI2_ENST00000398538.1_Silent_p.P836P NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 848 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GCTGGGTAGGGGGGCGCACAG 0.632000 22 108 0 0 0.006320 0 0 RAB27B 5874 broad.mit.edu 37 18 52556515 52556515 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:52556515C>T ENST00000262094.5 + 6 1049 c.528C>T c.(526-528)acC>acT p.T176T RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 176 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CTGTAGAAACCCTTTTGGACT 0.403000 13 17 0 0 0.004007 0 0 RAVER1 125950 broad.mit.edu 37 19 10444151 10444151 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:10444151G>A ENST00000293677.6 - 1 165 c.84C>T c.(82-84)ccC>ccT p.P28P NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 11 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GGCTCAGCGGGGGCCGGTGAG 0.697000 17 22 0 0 0.006122 0 0 SMIM3 85027 broad.mit.edu 37 5 150158501 150158501 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:150158501C>T ENST00000600109.1 + 1 635 c.370C>T c.(370-372)Cca>Tca p.P124S SMIM3_ENST00000526627.1_5'UTR CATCCCTGACCCAGGAACTTT 0.662000 3 9 0 0 0.000248 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119121239 119121239 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:119121239C>T ENST00000264245.4 + 10 2172 c.1640C>T c.(1639-1641)tCt>tTt p.S547F NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 547 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCTGAGACTTCTGCAGGTAAG 0.473000 17 32 0 0 0.004990 0 0 CXorf58 254158 broad.mit.edu 37 X 23956695 23956695 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:23956695C>T ENST00000379211.3 + 8 1366 c.817C>T c.(817-819)Cgg>Tgg p.R273W NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 273 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 ACCTCTATATCGGCCCTACAA 0.333000 51 3 0 0 0.003610 0 0 KLHL24 54800 broad.mit.edu 37 3 183368597 183368597 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:183368597C>T ENST00000454652.1 + 4 839 c.453C>T c.(451-453)ctC>ctT p.L151L KLHL24_ENST00000242810.6_Silent_p.L151L|KLHL24_ENST00000476808.1_Silent_p.L151L Q6TFL4 KLH24_HUMAN kelch-like family member 24 151 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TTAGTGTTCTCCGTGATGCAT 0.403000 30 87 0 0 0.001512 0 0 ZNF382 84911 broad.mit.edu 37 19 37101557 37101557 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:37101557C>T ENST00000435416.1 + 2 1640 c.145C>T c.(145-147)Cac>Tac p.H49Y ZNF382_ENST00000439428.1_Missense_Mutation_p.H48Y|ZNF382_ENST00000292928.2_Missense_Mutation_p.H49Y|ZNF382_ENST00000423582.1_5'UTR Q96SR6 ZN382_HUMAN zinc finger protein 382 49 KRAB.|Mediates interaction with TRIM28 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATCAGGGTTTCACATGGCTAA 0.378000 17 61 0 0 0.001523 0 0 PRG4 10216 broad.mit.edu 37 1 186281959 186281959 + Silent SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:186281959T>A ENST00000445192.2 + 12 4095 c.4050T>A c.(4048-4050)gtT>gtA p.V1350V PRG4_ENST00000367486.3_Silent_p.V1307V|PRG4_ENST00000367484.3_Silent_p.V879V|PRG4_ENST00000367485.4_Silent_p.V1257V|PRG4_ENST00000367483.4_Silent_p.V1309V NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1350 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAATGTGGTTACCTCAGCTA 0.388000 32 76 0 0 0.002445 0 0 LRTM1 57408 broad.mit.edu 37 3 54958730 54958730 + Missense_Mutation SNP G G A rs142832767 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:54958730G>A ENST00000273286.5 - 2 682 c.520C>T c.(520-522)Ctt>Ttt p.L174F LRTM1_ENST00000493075.1_Missense_Mutation_p.L98F|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 174 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGAAGTAAAAGCCTCACACTG 0.463000 34 63 0 0 0.003755 0 0 CACNB2 783 broad.mit.edu 37 10 18690937 18690937 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:18690937G>A ENST00000396576.2 + 2 634 c.133G>A c.(133-135)Gag>Aag p.E45K CACNB2_ENST00000377315.4_Missense_Mutation_p.E52K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E45K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E72K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E100K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E46K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E72K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E100K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E100K NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 100 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.E100K(1)|p.E45K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAGAGAAGCGGAGCGGCAGGC 0.552000 10 29 0 0 0.000673 0 0 FAT4 79633 broad.mit.edu 37 4 126371652 126371652 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:126371652G>A ENST00000394329.3 + 9 9494 c.9481G>A c.(9481-9483)Gaa>Aaa p.E3161K FAT4_ENST00000335110.5_Missense_Mutation_p.E1459K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3161 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAGAAACACGAAATGACGAT 0.378000 22 31 0 0 0.003954 0 0 SFTPD 6441 broad.mit.edu 37 10 81697941 81697941 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:81697941G>A ENST00000372292.3 - 8 835 c.795C>T c.(793-795)ttC>ttT p.F265F NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 265 C-type lectin. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CTGCTGTCTTGAAAATCTTCT 0.542000 20 36 0 0 0.001523 0 0 MOV10L1 54456 broad.mit.edu 37 22 50580554 50580554 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:50580554G>A ENST00000262794.5 + 16 2198 c.2115G>A c.(2113-2115)gaG>gaA p.E705E MOV10L1_ENST00000540615.1_Silent_p.E685E|MOV10L1_ENST00000395858.3_Silent_p.E705E|MOV10L1_ENST00000545383.1_Silent_p.E705E|MOV10L1_ENST00000395843.1_5'UTR NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 705 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.E705D(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GAACAGAGGAGAGGCGTGTTG 0.478000 91 69 0 0 0.003610 0 0 JPH2 57158 broad.mit.edu 37 20 42744361 42744361 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:42744361T>C ENST00000372980.3 - 4 2826 c.1954A>G c.(1954-1956)Aag>Gag p.K652E NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 652 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGCGCCTTCTTCTTGGCCCCC 0.677000 10 35 0 0 0.000978 0 0 SPNS3 201305 broad.mit.edu 37 17 4352556 4352556 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:4352556G>A ENST00000355530.2 + 7 1077 c.797G>A c.(796-798)gGa>gAa p.G266E SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.G139E NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 266 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TCGACCCTCGGAGTGACCGCC 0.657000 25 41 0 0 0.001786 0 0 ATF6B 1388 broad.mit.edu 37 6 32087715 32087715 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:32087715G>A ENST00000375201.4 - 9 888 c.843C>T c.(841-843)atC>atT p.I281I ATF6B_ENST00000375203.3_Silent_p.I284I Q99941 ATF6B_HUMAN activating transcription factor 6 beta 284 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TAGCACCCTGGATGAGGACAA 0.617000 187 531 0 0 0.003610 0 0 EIF4A3 9775 broad.mit.edu 37 17 78120709 78120709 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:78120709G>A ENST00000269349.3 - 1 273 c.52C>T c.(52-54)Ctc>Ttc p.L18F NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 18 mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) TCCTCTTTGAGCAGCCGCTTT 0.647000 10 23 0 0 0.000673 0 0 OR1S2 219958 broad.mit.edu 37 11 57970829 57970829 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:57970829G>A ENST00000302592.6 - 1 824 c.825C>T c.(823-825)ccC>ccT p.P275P NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GAGTGGAGGAGGGGAAAAAGT 0.493000 51 48 0 0 0.003610 0 0 VWA2 340706 broad.mit.edu 37 10 116049153 116049153 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr10:116049153G>A ENST00000603594.1 + 12 2348 c.2027G>A c.(2026-2028)cGg>cAg p.R676Q VWA2_ENST00000392982.3_Missense_Mutation_p.R676Q NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 676 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GAGGGTCTGCGGAGGCTTGCA 0.622000 7 31 0 0 0.004482 0 0 BRD1 23774 broad.mit.edu 37 22 50216722 50216722 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr22:50216722C>T ENST00000216267.8 - 1 1730 c.1244G>A c.(1243-1245)aGc>aAc p.S415N BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000542442.1_Missense_Mutation_p.S54N|BRD1_ENST00000404034.1_Missense_Mutation_p.S415N|BRD1_ENST00000457780.2_Missense_Mutation_p.S415N|BRD1_ENST00000404760.1_Missense_Mutation_p.S415N|BRD1_ENST00000459821.1_5'UTR NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 415 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTTAACCGAGCTCTCTTTTCG 0.547000 60 213 0 0 0.003610 0 0 CCDC129 223075 broad.mit.edu 37 7 31682335 31682335 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:31682335G>A ENST00000319386.3 + 11 1900 c.907G>A c.(907-909)Gga>Aga p.G303R CCDC129_ENST00000409210.1_Missense_Mutation_p.G359R|CCDC129_ENST00000407970.3_Missense_Mutation_p.G451R|CCDC129_ENST00000451887.2_Missense_Mutation_p.G477R Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 451 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGCTGAGAATGGAGGTAGAAA 0.512000 17 18 0 0 0.004007 0 0 LY75 4065 broad.mit.edu 37 2 160664965 160664965 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:160664965G>A ENST00000263636.4 - 33 4844 c.4817C>T c.(4816-4818)tCt>tTt p.S1606F LY75_ENST00000553424.1_Missense_Mutation_p.S1606F|LY75_ENST00000554112.1_Missense_Mutation_p.S1606F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1606F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1606F 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) CTTACCAACAGAATGTTGAGA 0.343000 26 28 0 0 0.006320 0 0 FBXO8 26269 broad.mit.edu 37 4 175184040 175184040 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:175184040G>A ENST00000393674.2 - 2 1066 c.204C>T c.(202-204)ttC>ttT p.F68F FBXO8_ENST00000503293.1_Intron NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 68 F-box. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity p.F68F(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) CCAAATTAATGAATCCTTCCT 0.418000 29 53 0 0 0.007291 0 0 APOBEC2 10930 broad.mit.edu 37 6 41021152 41021152 + Silent SNP G G A rs116667889 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:41021152G>A ENST00000244669.2 + 1 110 c.66G>A c.(64-66)gaG>gaA p.E22E NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 22 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGATCTGGAGAACCTGGACG 0.592000 21 112 0 0 0.003330 0 0 MACC1 346389 broad.mit.edu 37 7 20198181 20198181 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:20198181G>A ENST00000400331.5 - 5 2111 c.1803C>T c.(1801-1803)gtC>gtT p.V601V MACC1_ENST00000332878.4_Silent_p.V601V|MACC1_ENST00000589011.1_Silent_p.V601V NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 601 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TACCTCTGAGGACTCCTACAT 0.398000 39 126 0 0 0.007835 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998711 27998711 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:27998711G>A ENST00000441525.1 - 1 855 c.741C>T c.(739-741)ttC>ttT p.F247F NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 247 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 AGTTAGGAAAGAACTTAGCCT 0.473000 25 4 0 0 0.001512 0 0 NCOR1 9611 broad.mit.edu 37 17 15961014 15961014 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:15961014G>A ENST00000268712.3 - 40 6463 c.6206C>T c.(6205-6207)tCc>tTc p.S2069F NCOR1_ENST00000395857.3_Missense_Mutation_p.S653F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S1966F NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2069 ID1 (By similarity).|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGTCTGCGAGGAAACTTGATT 0.388000 24 19 0 0 0.003954 0 0 RADIL 55698 broad.mit.edu 37 7 4917288 4917288 + Missense_Mutation SNP C C G TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:4917288C>G ENST00000399583.3 - 2 670 c.483G>C c.(481-483)aaG>aaC p.K161N RADIL_ENST00000536091.1_Missense_Mutation_p.K161N NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 161 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CGTCCGACCTCTTCCTCAGCT 0.602000 21 297 0 0 0.001216 0 0 KCNC3 3748 broad.mit.edu 37 19 50827173 50827173 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:50827173G>A ENST00000376959.2 - 2 1200 c.1037C>T c.(1036-1038)cCc>cTc p.P346L KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.P346L|KCNC3_ENST00000474951.1_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 346 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GGTCAGGAAGGGCTCCGTCTC 0.587000 9 21 0 0 0.006214 0 0 ABCA12 26154 broad.mit.edu 37 2 215820071 215820071 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:215820071G>A ENST00000272895.7 - 43 6467 c.6248C>T c.(6247-6249)tCc>tTc p.S2083F ABCA12_ENST00000389661.4_Missense_Mutation_p.S1765F|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2083 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTACATCCAGGAAAATGTTGC 0.438000 9 12 0 0 0.000673 0 0 OR2M3 127062 broad.mit.edu 37 1 248367286 248367286 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:248367286G>A ENST00000456743.1 + 1 955 c.917G>A c.(916-918)gGa>gAa p.G306E NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AAGATCTTAGGAAAGGGCAAG 0.418000 14 100 0 0 0.003163 0 0 USH2A 7399 broad.mit.edu 37 1 216258115 216258115 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:216258115C>T ENST00000366943.2 - 25 5478 c.5092G>A c.(5092-5094)Gaa>Aaa p.E1698K RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1698K|RP11-22M7.2_ENST00000442606.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1698 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGATTTGTTCTTCAGAACTC 0.423000 HNSCC(13;0.011) 27 82 0 0 0.004656 0 0 KCNA10 3744 broad.mit.edu 37 1 111060402 111060402 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:111060402G>A ENST00000369771.2 - 1 1395 c.1008C>T c.(1006-1008)tcC>tcT p.S336S NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 336 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GGATGGCCAGGGACATGTTCT 0.542000 37 85 0 0 0.002852 0 0 DDI1 414301 broad.mit.edu 37 11 103907797 103907797 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:103907797C>T ENST00000302259.3 + 1 490 c.247C>T c.(247-249)Cgg>Tgg p.R83W PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 83 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGTGGGACCTCGGGCTCCAGG 0.612000 45 70 0 0 0.003610 0 0 LRRN1 57633 broad.mit.edu 37 3 3887884 3887884 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:3887884T>C ENST00000319331.3 + 2 2320 c.1559T>C c.(1558-1560)cTt>cCt p.L520P SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 520 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AATGGGACCCTTCTGGATGGT 0.438000 22 61 0 0 0.002780 0 0 GPR1 2825 broad.mit.edu 37 2 207041817 207041817 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:207041817C>T ENST00000407325.2 - 3 517 c.155G>A c.(154-156)gGa>gAa p.G52E GPR1_ENST00000437420.1_Missense_Mutation_p.G52E NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 52 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) TCCTGGAATTCCCAGAACAAA 0.463000 67 73 0 0 0.003610 0 0 ACSS2 55902 broad.mit.edu 37 20 33462924 33462924 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr20:33462924C>T ENST00000336325.4 + 1 22 c.22C>T c.(22-24)Ctt>Ttt p.L8F NM_001242393.1 NP_001229322.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 0 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GTGGGCACTTCTTTGTGGTGA 0.517000 29 107 0 0 0.003755 0 0 COL11A2 1302 broad.mit.edu 37 6 33154559 33154559 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr6:33154559G>A ENST00000341947.2 - 5 870 c.643C>T c.(643-645)Cag>Tag p.Q215* COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Q215*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Q215*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.Q215*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Q215*|COL11A2_ENST00000395194.1_Nonsense_Mutation_p.Q215*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Q215*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Q215*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Q215* NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 215 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TAGGCTGCCTGGACCCCTGGG 0.567000 23 288 0 0 0.004656 0 0 ONECUT2 9480 broad.mit.edu 37 18 55103457 55103457 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:55103457C>T ENST00000491143.2 + 1 541 c.509C>T c.(508-510)cCt>cTt p.P170L NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 170 Poly-His. organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TTccaccaccctcacccgcac 0.667000 3 5 0 0 0.004672 0 0 CRY1 1407 broad.mit.edu 37 12 107391350 107391350 + Missense_Mutation SNP T T A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr12:107391350T>A ENST00000008527.5 - 9 2275 c.1408A>T c.(1408-1410)Atg>Ttg p.M470L NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 470 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 TGGTTCACCATTGGTTTAGGA 0.403000 25 76 0 0 0.005443 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38609982 38609982 + Silent SNP C C T rs61729141 byFrequency TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:38609982C>T ENST00000222345.6 + 9 2837 c.2328C>T c.(2326-2328)ttC>ttT p.F776F NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 776 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTCCTCCTTTCGGCCCCCCCA 0.522000 57 195 0 0 0.003610 0 0 PCNT 5116 broad.mit.edu 37 21 47831715 47831715 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr21:47831715C>T ENST00000359568.5 + 28 5835 c.5728C>T c.(5728-5730)Ctg>Ttg p.L1910L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1910 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCAGCAGCCCCTGGCAGCCGG 0.726000 3 3 0 0 0.000248 0 0 GLI2 2736 broad.mit.edu 37 2 121736031 121736031 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:121736031C>T ENST00000452319.1 + 10 1450 c.1390C>T c.(1390-1392)Cac>Tac p.H464Y GLI2_ENST00000361492.4_Missense_Mutation_p.H464Y|GLI2_ENST00000314490.11_Missense_Mutation_p.H136Y|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 464 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGAGCACATCCACGGGGAGAA 0.627000 46 73 0 0 0.003610 0 0 GPR108 56927 broad.mit.edu 37 19 6732361 6732361 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:6732361G>A ENST00000264080.7 - 12 1064 c.1038C>T c.(1036-1038)atC>atT p.I346I GPR108_ENST00000430424.4_Silent_p.I104I NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 346 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CAATCAGGGCGATGGTGATGA 0.622000 17 33 0 0 0.007413 0 0 DTNA 1837 broad.mit.edu 37 18 32462040 32462040 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr18:32462040G>A ENST00000283365.9 + 20 2269 c.1918G>A c.(1918-1920)Gag>Aag p.E640K DTNA_ENST00000601125.1_Missense_Mutation_p.E319K|DTNA_ENST00000591182.1_Missense_Mutation_p.E345K|DTNA_ENST00000590831.2_Missense_Mutation_p.E123K|DTNA_ENST00000269190.7_Missense_Mutation_p.E698K|DTNA_ENST00000399097.3_Missense_Mutation_p.E345K|DTNA_ENST00000598142.1_Missense_Mutation_p.E640K|DTNA_ENST00000269192.7_Missense_Mutation_p.E406K|DTNA_ENST00000598334.1_Missense_Mutation_p.E637K|DTNA_ENST00000595022.1_Missense_Mutation_p.E637K|DTNA_ENST00000556414.3_Missense_Mutation_p.E349K|DTNA_ENST00000399113.3_Missense_Mutation_p.E697K|DTNA_ENST00000399121.5_Missense_Mutation_p.E644K|DTNA_ENST00000444659.1_Missense_Mutation_p.E697K NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 697 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CAGGGTTACGGAGGATGCAGA 0.438000 18 24 0 0 0.001523 0 0 CASD1 64921 broad.mit.edu 37 7 94163044 94163044 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:94163044G>A ENST00000297273.4 + 7 845 c.558G>A c.(556-558)atG>atA p.M186I NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 186 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AATATAAAATGAACATCACCT 0.328000 19 37 0 0 0.007413 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291250 1291250 + Missense_Mutation SNP C C T rs17841226 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr16:1291250C>T ENST00000461509.2 + 2 373 c.179C>T c.(178-180)cCa>cTa p.P60L TPSAB1_ENST00000338844.3_Missense_Mutation_p.P53L P20231 TRYB2_HUMAN tryptase alpha/beta 1 53 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GTCCACGGCCCATACTGGATG 0.711000 18 24 0 0 0.001523 0 0 PLK3 1263 broad.mit.edu 37 1 45271237 45271237 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:45271237C>T ENST00000372201.4 + 15 2067 c.1828C>T c.(1828-1830)Cgt>Tgt p.R610C PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 610 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GGCCCGAAATCGTAGTGCTTG 0.602000 45 80 0 0 0.001951 0 0 CATSPERB 79820 broad.mit.edu 37 14 92076893 92076893 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:92076893G>A ENST00000256343.3 - 21 2685 c.2529C>T c.(2527-2529)atC>atT p.I843I NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 843 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTCAAATGGGATAAATTTGC 0.378000 26 35 0 0 0.004656 0 0 SFMBT1 51460 broad.mit.edu 37 3 52955764 52955764 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr3:52955764G>A ENST00000394752.3 - 11 1597 c.1215C>T c.(1213-1215)acC>acT p.T405T SFMBT1_ENST00000394750.1_Silent_p.T405T|SFMBT1_ENST00000296295.6_Silent_p.T405T|SFMBT1_ENST00000358080.2_Silent_p.T405T NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 405 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTGCAGTGATGGTAGCAACAC 0.488000 60 161 0 0 0.003610 0 0 DHX34 9704 broad.mit.edu 37 19 47884495 47884495 + Missense_Mutation SNP A A C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr19:47884495A>C ENST00000328771.4 + 16 3561 c.3212A>C c.(3211-3213)cAc>cCc p.H1071P NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1071 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) ACCTGCCCCCACTGTGGCCTG 0.667000 17 23 0 0 0.006122 0 0 NALCN 259232 broad.mit.edu 37 13 101890118 101890118 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr13:101890118G>A ENST00000251127.6 - 12 1503 c.1422C>T c.(1420-1422)ttC>ttT p.F474F NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.F474F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 474 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GAAAGTACGTGAATTGTGAAT 0.303000 87 113 0 0 0.003610 0 0 MED8 112950 broad.mit.edu 37 1 43850172 43850172 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:43850172C>T ENST00000290663.6 - 8 898 c.855G>A c.(853-855)aaG>aaA p.K285K MED8_ENST00000372457.4_3'UTR NM_052877.3 NP_443109.2 Q96G25 MED8_HUMAN mediator complex subunit 8 0 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCAGAAGCTTCTTCACCTTGC 0.517000 6 21 0 0 0.003080 0 0 C1orf94 84970 broad.mit.edu 37 1 34677988 34677988 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:34677988C>T ENST00000488417.1 + 6 1822 c.1702C>T c.(1702-1704)Ctc>Ttc p.L568F C1orf94_ENST00000373374.3_Missense_Mutation_p.L378F NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 378 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) ACCGCAGTACCTCTTTCCCCA 0.577000 9 16 0 0 0.004482 0 0 PIK3CD 5293 broad.mit.edu 37 1 9770521 9770526 + In_Frame_Del DEL CTGGGG CTGGGG - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:9770521_9770526delCTGGGG ENST00000536656.1 + 3 216_221 c.8_13delCTGGGG c.(7-15)ctg>c p.PGV3del PIK3CD_ENST00000377346.4_In_Frame_Del_p.PGV3del|PIK3CD_ENST00000361110.2_In_Frame_Del_p.PGV3del O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 3 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) AGGATGCCCCCTGGGGTGGACTGCCC 0.529 20 128 --- --- --- --- C1QC 714 broad.mit.edu 37 1 22973763 22973763 + Frame_Shift_Del DEL G G - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:22973763delG ENST00000374639.3 + 3 343 c.225delG c.(223-225)aafs p.K75fs C1QC_ENST00000374637.1_Frame_Shift_Del_p.K75fs|C1QC_ENST00000374640.4_Frame_Shift_Del_p.K75fs NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 75 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AAGGGCAGAAGGGAGAACCCG 0.647 12 34 --- --- --- --- LOC100129620 100129620 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 3 6 --- --- --- --- LRRTM1 347730 broad.mit.edu 37 2 80529507 80529518 + In_Frame_Del DEL TCTGATGCATGG TCTGATGCATGG - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr2:80529507_80529518delTCTGATGCATGG ENST00000295057.3 - 2 2083_2094 c.1427_1438delCCATGCATCAGA c.(1426-1440)atg>a p.TMHQM476del CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_In_Frame_Del_p.TMHQM476del|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 476 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 ATGGCAGCCATCTGATGCATGGTCTGTTTCTG 0.538 HNSCC(69;0.2) 15 30 --- --- --- --- HERC3 8916 broad.mit.edu 37 4 89601295 89601295 + Frame_Shift_Del DEL T T - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:89601295delT ENST00000402738.1 + 20 2487 c.2248delT c.(2248-2250)ttfs p.F751fs HERC3_ENST00000264345.3_Frame_Shift_Del_p.F751fs|HERC3_ENST00000543130.1_Frame_Shift_Del_p.F195fs NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 751 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TACAAAGGAATTTTTTCTTTT 0.343 22 24 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 6 1 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 7 218 --- --- --- --- MAPK9 5601 broad.mit.edu 37 5 179665329 179665349 + Splice_Site DEL AACCTGAAGGCTGATCTTTTA AACCTGAAGGCTGATCTTTTA - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr5:179665329_179665349delAACCTGAAGGCTGATCTTTTA ENST00000452135.2 - 11 1413_1431 c.1132_splice c.e11+1 p.372_splice MAPK9_ENST00000393360.3_Splice_Site_p.372_splice|MAPK9_ENST00000343111.6_Splice_Site_p.372_splice|MAPK9_ENST00000347470.4_Splice_Site_p.287_splice|MAPK9_ENST00000455781.1_Splice_Site_p.372_splice|MAPK9_ENST00000397072.3_3'UTR P45984 MK09_HUMAN mitogen-activated protein kinase 9 372 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCAATCACTAACCTGAAGGCTGATCTTTTACAACACCATT 0.344 9 154 --- --- --- --- OR6W1P 89883 broad.mit.edu 37 7 142759847 142759847 + RNA DEL A A - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr7:142759847delA ENST00000496192.1 - 0 679 NR_002140.1 central_nervous_system(1)|endometrium(2)|lung(1)|skin(1) 5 CCAGAGGAGGAAGGGATGTGC 0.567 2 4 --- --- --- --- HR 55806 broad.mit.edu 37 8 21978407 21978407 + Frame_Shift_Del DEL T T - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr8:21978407delT ENST00000381418.4 - 11 3912 c.2432delA c.(2431-2433)ggfs p.E811fs HR_ENST00000312841.8_Frame_Shift_Del_p.E811fs NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 811 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAGGGCTTTCTCCTGGATCTT 0.677 2 4 --- --- --- --- MIRLET7DHG 158257 broad.mit.edu 37 9 96941099 96941100 + RNA INS - - A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:96941099_96941100insA ENST00000416309.2 - 0 164 RP11-2B6.3_ENST00000602703.1_lincRNA NR_046163.1 AGACCAGCAAGAAAAAAAAAAT 0.376 4 8 --- --- --- --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT GCT - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr9:130953109_130953111delGCT ENST00000538431.1 - 2 273_275 c.26_28delAGC c.(25-30)ctc>c p.QL9del CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 9 Gln-rich. Missing (in Ref. 7; AAF23231). nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 3 5 --- --- --- --- BSCL2 26580 broad.mit.edu 37 11 62474622 62474633 + In_Frame_Del DEL CTTTTTCCCCAG CTTTTTCCCCAG - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr11:62474622_62474633delCTTTTTCCCCAG ENST00000433053.1 - 2 591_602 c.35_46delCTGGGGAAAAAG c.(34-48)gag>g p.AGEKE12del BSCL2_ENST00000405837.1_In_Frame_Del_p.AGEKE12del|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_In_Frame_Del_p.AGEKE12del Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 336 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 CCGCACACCTCTTTTTCCCCAGCTTCCTCCTT 0.514 46 324 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20087717 20087731 + RNA DEL AAGCTGGGGCTTCCA AAGCTGGGGCTTCCA - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:20087717_20087731delAAGCTGGGGCTTCCA ENST00000548261.1 + 0 195_209 ATTTTCTACCAAGCTGGGGCTTCCAAAGCTGGGAA 0.377 4 6 --- --- --- --- IL25 64806 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 7 69 --- --- --- --- ADAM21 8747 broad.mit.edu 37 14 70924869 70924871 + In_Frame_Del DEL ATG ATG - rs141326765 TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr14:70924869_70924871delATG ENST00000603540.1 + 2 911_913 c.653_655delATG c.(652-657)cat>c p.HD218del RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_In_Frame_Del_p.HD218del NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 218 Peptidase M12B. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GTGGTGAACCATGATTTCTTCAT 0.414 8 43 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 2 4 --- --- --- --- CCDC40 55036 broad.mit.edu 37 17 78055757 78055757 + Frame_Shift_Del DEL C C - rs61749058 by1000genomes TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chr17:78055757delC ENST00000397545.4 + 12 1916 c.1889delC c.(1888-1890)gtfs p.A631fs CCDC40_ENST00000374877.3_Frame_Shift_Del_p.A631fs NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 631 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AAGACGGATGCTGCCATCCGG 0.562 10 27 --- --- --- --- NRK 203447 broad.mit.edu 37 X 105137893 105137893 + Frame_Shift_Del DEL A A - TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41a7b031-d928-4a1f-891b-82fb3f6d548f 8bb3517f-9e54-4272-a6c2-a7b8e8cc567d g.chrX:105137893delA ENST00000428173.2 + 6 750 c.447delA c.(445-447)ttfs p.L149fs NRK_ENST00000536164.1_Frame_Shift_Del_p.L149fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.L149fs Q7Z2Y5 NRK_HUMAN Nik related kinase 149 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ATCAGAGTTTAAAAGAAGATT 0.383 HNSCC(51;0.14) 18 4 --- --- --- ---