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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut OR51T1 401665 broad.mit.edu 37 11 4903600 4903600 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:4903600C>T uc010qyp.2 + 0 552 c.552C>T c.(550-552)ttC>ttT p.F184F NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA. 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAGTTTTCTTACTTCCCC 0.468000 98 88 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60742020 60742020 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:60742020G>A uc002jad.3 + 1 632 c.230G>A c.(229-231)tGg>tAg p.W77* Y_RNA_uc021ubi.1_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 77 Ricin B-type lectin. 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 GCCCAGCGCTGGAAGTGGGTC 0.642000 75 60 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652072 36652072 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:36652072G>A uc021yzb.1 + 2 296 c.194G>A c.(193-195)tGg>tAg p.W65* CDKN1A_uc021yzc.1_Nonsense_Mutation_p.W65*|CDKN1A_uc011dtq.2_Nonsense_Mutation_p.W99*|CDKN1A_uc003omm.4_Nonsense_Mutation_p.W65*|CDKN1A_uc003omn.3_Nonsense_Mutation_p.W65* NM_078467 NP_510867 P38936 CDN1A_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA. 65 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding p.A64fs*25(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GACTTCGCCTGGGAGCGTGTG 0.672000 82 36 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537107 5537107 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:5537107C>T uc001maz.4 - 0 850 c.565G>A c.(565-567)Gag>Aag p.E189K HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 189 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CACATGAACTCCATGTTGGAC 0.478000 94 79 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22453527 22453527 + RNA SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:22453527C>T uc021wml.1 + 6 c.648C>T Parts of antibodies, mostly variable regions. TCTCTGGCTCCATCCTTGGGA 0.562000 21 169 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744466 17744466 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:17744466G>A uc011mix.2 + 6 2578 c.2240G>A c.(2239-2241)aGc>aAc p.S747N NHS_uc004cxx.3_Missense_Mutation_p.S726N|NHS_uc004cxy.3_Missense_Mutation_p.S570N|NHS_uc004cxz.3_Missense_Mutation_p.S549N|NHS_uc004cya.3_Missense_Mutation_p.S449N NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 726 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) AAGGCAGACAGCCTGGGCTGC 0.512000 106 71 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47221588 47221588 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:47221588G>A uc010fbb.3 + 6 1304 c.936G>A c.(934-936)atG>atA p.M312I TTC7A_uc002rvm.3_Missense_Mutation_p.M278I|TTC7A_uc002rvn.1_Missense_Mutation_p.M193I|TTC7A_uc002rvo.3_Missense_Mutation_p.M312I|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Missense_Mutation_p.M193I|TTC7A_uc002rvq.3_Missense_Mutation_p.M52I|TTC7A_uc002rvr.3_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 312 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CTGAGTTCATGGGCAAGGAGG 0.612000 113 85 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209302574 209302574 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:209302574C>T uc010zjb.2 + 3 698 c.412C>T c.(412-414)Cgc>Tgc p.R138C PTH2R_uc002vdb.3_Missense_Mutation_p.R127C NM_005048 NP_005039 P49190 PTH2R_HUMAN Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA. 127 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) AGACTGCCTTCGCTTTCTGCA 0.378000 84 42 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35107559 35107559 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:35107559C>T uc003zwl.3 - 2 1038 c.713G>A c.(712-714)tGc>tAc p.C238Y FAM214B_uc003zwm.3_Missense_Mutation_p.C238Y|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Missense_Mutation_p.C238Y|FAM214B_uc003zwp.1_Missense_Mutation_p.C238Y|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Missense_Mutation_p.C238Y NM_025182 NP_079458 Q7L5A3 K1539_HUMAN Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA. 238 nucleus CTTGGTGGGGCAGGGGCCTGG 0.697000 59 7 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89148295 89148295 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:89148295G>A uc021ryf.1 - 20 3312 c.3063C>T c.(3061-3063)acC>acT p.T1021T EML5_uc021ryg.1_Silent_p.T1021T|EML5_uc001xxh.1_Silent_p.T160T NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 1021 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 ATATTCTTAAGGTTTTATCAT 0.438000 80 52 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760924 6760924 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:6760924C>T uc002mft.3 - 2 338 c.144G>A c.(142-144)gtG>gtA p.V48V SH2D3A_uc010xjg.2_Intron NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA. 48 SH2. JNK cascade|small GTPase mediated signal transduction intracellular SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGCAGGAGATCACGGGGTTGC 0.642000 44 30 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179077360 179077360 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:179077360G>A uc001gmj.4 - 11 3329 c.3042C>T c.(3040-3042)tcC>tcT p.S1014S ABL2_uc010pnf.2_Silent_p.S911S|ABL2_uc010png.2_Silent_p.S890S|ABL2_uc010pnh.2_Silent_p.S993S|ABL2_uc001gmg.4_Silent_p.S896S|ABL2_uc001gmi.4_Silent_p.S999S|ABL2_uc010pne.2_Silent_p.S875S NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 1014 Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTTCTGATGTGGACTGTCCTG 0.582000 T ETV6 AML 106 77 0 0 1 0 0 SCIN 85477 broad.mit.edu 37 7 12675748 12675748 + Silent SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:12675748A>T uc003ssn.4 + 9 1608 c.1398A>T c.(1396-1398)ggA>ggT p.G466G SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Silent_p.G219G NM_001112706 NP_149119 Q9Y6U3 ADSV_HUMAN Homo sapiens scinderin (SCIN), transcript variant 1, mRNA. 466 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CCCTTGGAGGACAGGCTGTGC 0.483000 30 19 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 120984355 120984355 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:120984355G>A uc001typ.4 + 1 788 c.305G>A c.(304-306)gGc>gAc p.G102D RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.G8D NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 102 Interaction with MEOX2.|Ser-rich. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGGGCGGCGGCAGCAGCAAA 0.443000 81 41 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216326 55216326 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:55216326C>T uc003pcm.1 + 4 732 c.646C>T c.(646-648)Cca>Tca p.P216S NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 216 integral to membrane receptor activity p.P216P(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GAACATGGTTCCACCCCCTAC 0.443000 137 45 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 1987941 1987941 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:1987941C>T uc001aiq.3 + 2 373 c.212C>T c.(211-213)tCc>tTc p.S71F NM_002744 NP_001028754 Q05513 KPCZ_HUMAN Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA. 71 OPR. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) TGCACGGTGTCCTCCCAGATG 0.647000 66 42 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119732117 119732117 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:119732117C>T uc002tln.1 + 5 721 c.589C>T c.(589-591)Cca>Tca p.P197S MARCO_uc010yyf.1_Missense_Mutation_p.P119S NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 197 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.P197R(1) 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 ACCCCAAGGCCCACCGGGAGT 0.552000 32 20 0 0 1 0 0 C20orf197 284756 broad.mit.edu 37 20 58645091 58645091 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:58645091G>A uc002ybj.1 + 2 368 c.62G>A c.(61-63)aGg>aAg p.R21K NM_173644 NP_775915 Q8N268 CT197_HUMAN Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA. 21 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) CACAGCCACAGGCTGAAGGTG 0.547000 71 57 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50854526 50854526 + Silent SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:50854526G>C uc003blb.2 + 6 980 c.558G>C c.(556-558)ctG>ctC p.L186L PPP6R2_uc003blc.3_Silent_p.L186L|PPP6R2_uc003bky.2_Silent_p.L186L|PPP6R2_uc003bla.2_Silent_p.L186L|PPP6R2_uc003bkz.2_Silent_p.L186L NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 186 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TTCAGTGGCTGAATGAAGAGA 0.507000 88 3 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395113 154395113 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:154395113A>C uc010jih.1 + 0 1854 c.1694A>C c.(1693-1695)gAa>gCa p.E565A NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 565 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAAAATCTAGAATTAGAAGTC 0.428000 40 41 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22758930 22758930 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:22758930G>A uc021wml.1 + 61 c.6720G>A Parts of antibodies, mostly variable regions. CGACCCTCAGGGATTCCTGAC 0.547000 28 155 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227661055 227661055 + Nonsense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:227661055A>C uc021vxn.1 - 0 2400 c.2400T>G c.(2398-2400)taT>taG p.Y800* IRS1_uc002voh.4_Nonsense_Mutation_p.Y800* NM_005544 NP_005535 P35568 IRS1_HUMAN Homo sapiens insulin receptor substrate 1 (IRS1), mRNA. 800 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CTGTTGCAGCATAGAGAAGGC 0.632000 135 102 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5079915 5079915 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:5079915C>T uc010qyw.2 - 0 943 c.943G>A c.(943-945)Gaa>Aaa p.E315K NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TCTTCCTTTTCCATTCCTTGT 0.343000 53 31 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894560 166894560 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:166894560C>T uc002udo.4 - 16 2899 c.2672G>A c.(2671-2673)gGa>gAa p.G891E SCN1A_uc010fpk.3_Missense_Mutation_p.G863E|SCN1A_uc021vsb.1_Missense_Mutation_p.G880E NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 891 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G880E(1) 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) GGTTAAATTTCCCAGAGCCCC 0.443000 68 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179440691 179440691 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:179440691T>C uc021vsy.1 - 274 62689 c.62464A>G c.(62464-62466)Aac>Gac p.N20822D MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N14517D|TTN_uc021vta.1_Missense_Mutation_p.N14450D|TTN_uc021vtb.1_Missense_Mutation_p.N14325D|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21749 Fibronectin type-III 51. 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) TTTTCAATGTTGGCTCGGTTT 0.403000 156 103 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148406836 148406836 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:148406836G>A uc003iky.3 + 1 533 c.3G>A c.(1-3)atG>atA p.M1I EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Missense_Mutation_p.M1I|EDNRA_uc010ipe.1_Missense_Mutation_p.M1I|EDNRA_uc010ipf.1_Non-coding_Transcript NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 1 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GCCTCAAGATGGAAACCCTTT 0.388000 89 64 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515278 140515278 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140515278G>A uc003liq.3 + 0 479 c.262G>A c.(262-264)Gaa>Aaa p.E88K NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 88 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTTCTATATGAAAAACTAGA 0.473000 95 43 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20955866 20955866 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:20955866G>A uc010vbe.2 - 57 11463 c.11463C>T c.(11461-11463)gtC>gtT p.V3821V DNAH3_uc010vbd.2_Silent_p.V1256V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3821 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) GGGTCAGCAGGACCCCCTCAA 0.557000 96 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075374 9075374 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:9075374C>T uc002mkp.3 - 2 12276 c.12072G>A c.(12070-12072)atG>atA p.M4024I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4026 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 AGCTGGTGTCCATGTAAGGGC 0.458000 70 49 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146255 156146255 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:156146255G>A uc001fnl.3 + 14 1932 c.1753G>A c.(1753-1755)Gcc>Acc p.A585T SEMA4A_uc009wrq.3_Missense_Mutation_p.A585T|SEMA4A_uc001fnm.3_Missense_Mutation_p.A585T|SEMA4A_uc001fnn.3_Missense_Mutation_p.A453T|SEMA4A_uc001fno.3_Missense_Mutation_p.A585T NM_001193301 NP_071762 Q9H3S1 SEM4A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA. 585 Ig-like C2-type. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CCACCTGTCAGCCTTGGCCTC 0.532000 48 39 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22690222 22690222 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:22690222C>T uc010ajo.1 + 0 135 c.97C>T c.(97-99)Cct>Tct p.P33S TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajn.1_Missense_Mutation_p.P61S Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7. TGGGGAAGGTCCTGTCCTCTT 0.433000 96 87 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130415299 130415299 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:130415299C>T uc004ewe.4 - 8 1822 c.1539G>A c.(1537-1539)tgG>tgA p.W513* IGSF1_uc004ewd.3_Nonsense_Mutation_p.W513*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W504*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W493* NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 513 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GAACGTAATTCCAGGTGAGAT 0.493000 224 184 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62751604 62751604 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:62751604C>T uc003dll.2 - 1 857 c.497G>A c.(496-498)gGg>gAg p.G166E CADPS_uc003dlm.2_Missense_Mutation_p.G166E|CADPS_uc003dln.2_Missense_Mutation_p.G166E|CADPS_uc021wzv.1_Missense_Mutation_p.G166E NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA. 166 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.G166V(3) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CTGGGTTTCCCCATTGAGGAA 0.473000 24 75 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67197708 67197708 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:67197708G>A uc010dfa.1 - 10 1987 c.1108C>T c.(1108-1110)Cct>Tct p.P370S ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 370 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) GAATGCTCAGGATTTATTTCA 0.353000 50 54 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170470977 170470977 + Silent SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:170470977A>T uc002uez.3 + 7 601 c.381A>T c.(379-381)acA>acT p.T127T PPIG_uc010fpx.3_Silent_p.T112T|PPIG_uc010fpy.3_Silent_p.T123T|PPIG_uc002ufa.3_Silent_p.T127T|PPIG_uc002ufb.3_Silent_p.T127T|PPIG_uc002ufc.1_Silent_p.T127T|PPIG_uc002ufd.3_Silent_p.T127T NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 127 PPIase cyclophilin-type. RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.I126V(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CCAAAAGAACAACGAAACCAA 0.239000 52 33 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143039157 143039157 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:143039157T>G uc003wcr.1 + 14 1805 c.1718T>G c.(1717-1719)cTg>cGg p.L573R CLCN1_uc011ktc.1_Missense_Mutation_p.L185R NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 573 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCCCAGAGCCTGCAGCCCTCT 0.537000 78 46 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32611948 32611948 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:32611948C>T uc003xiv.2 + 7 1276 c.759C>T c.(757-759)ctC>ctT p.L253L NRG1_uc022ats.1_Silent_p.L203L|NRG1_uc011lbf.1_Silent_p.L250L|NRG1_uc010lvo.2_Silent_p.L250L|NRG1_uc003xiu.2_Silent_p.L258L|NRG1_uc003xiw.2_Silent_p.L250L|NRG1_uc003xit.2_Silent_p.L253L|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.L207L|NRG1_uc010lvq.2_Silent_p.L183L|NRG1_uc011lbg.1_Silent_p.L99L|NRG1_uc011lbh.1_Silent_p.L96L|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_Silent_p.L64L NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 253 Notch signaling pathway|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|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 ErbB-3 class receptor binding|cytokine activity|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) GCATCGCCCTCCTTGTGGTCG 0.517000 12 40 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231157430 231157430 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:231157430G>A uc002vql.3 + 19 2010 c.1895G>A c.(1894-1896)gGa>gAa p.G632E SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.G518E|SP140_uc002vqm.3_Missense_Mutation_p.G572E|SP140_uc010fxl.3_Missense_Mutation_p.G605E NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 632 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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) GAAATCAAAGGAGGCCATGCA 0.522000 66 55 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113377 59113377 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:59113377G>A uc001xdw.3 + 3 2200 c.2036G>A c.(2035-2037)tGg>tAg p.W679* DACT1_uc010trv.2_Nonsense_Mutation_p.W398*|DACT1_uc001xdx.3_Nonsense_Mutation_p.W642*|DACT1_uc010trw.2_Nonsense_Mutation_p.W398* NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 679 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TACCGGCGGTGGAAGTCCTCG 0.716000 20 20 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569010 49569010 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:49569010C>T uc021wxz.1 + 2 1535 c.1066C>T c.(1066-1068)Cct>Tct p.P356S DAG1_uc021wya.1_Missense_Mutation_p.P356S|DAG1_uc021wyb.1_Missense_Mutation_p.P356S|DAG1_uc021wyc.1_Missense_Mutation_p.P356S|DAG1_uc021wyd.1_Missense_Mutation_p.P356S|DAG1_uc021wye.1_Missense_Mutation_p.P356S|DAG1_uc021wyf.1_Missense_Mutation_p.P356S|DAG1_uc021wyg.1_Missense_Mutation_p.P356S|DAG1_uc021wyh.1_Missense_Mutation_p.P356S|DAG1_uc021wyi.1_Missense_Mutation_p.P356S|DAG1_uc021wyj.1_Missense_Mutation_p.P356S|DAG1_uc021wyk.1_Missense_Mutation_p.P356S|DAG1_uc003cxc.4_Missense_Mutation_p.P356S NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 356 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GACCATGGCTCCTCCAGTCAG 0.612000 18 98 0 0 1 0 0 C19orf75 284369 broad.mit.edu 37 19 51768652 51768652 + Missense_Mutation SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:51768652C>A uc002pwb.1 + 2 434 c.53C>A c.(52-54)tCc>tAc p.S18Y C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron NM_173635 NP_775906 Q8N7X8 CS075_HUMAN Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA. 18 integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1) 18 TCCTCTTGCTCCTTGGAGAAG 0.577000 131 132 1.51433e-70 1.53566e-70 1 1 0 GRM2 2912 broad.mit.edu 37 3 51743392 51743392 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:51743392T>G uc010hlv.3 + 1 632 c.393T>G c.(391-393)gaT>gaG p.D131E GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 131 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCCATGGTGATGCTCCCACTG 0.612000 5 11 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918948 12918948 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:12918948G>A uc001aum.1 + 1 171 c.84G>A c.(82-84)atG>atA p.M28I NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 28 p.M28K(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTGCCATGGAGGAGCTGC 0.607000 199 88 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39795450 39795450 + Silent SNP G A A rs146525668 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:39795450G>A uc010gnw.3 - 4 586 c.291C>T c.(289-291)ggC>ggT p.G97G ERG_uc021wjd.1_Silent_p.G97G|ERG_uc002yxa.3_Silent_p.G90G|ERG_uc011aek.2_5'UTR|ERG_uc010gnv.3_5'UTR|ERG_uc010gnx.3_Silent_p.G97G|ERG_uc011ael.2_Silent_p.G97G|ERG_uc002yxb.3_Silent_p.G97G|ERG_uc011aem.1_Silent_p.G90G|ERG_uc002yxc.4_Silent_p.G97G NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 97 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) CCATCTTCCCGCCTTTGGCCA 0.517000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 71 55 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146416 70146416 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:70146416C>T uc003hej.3 + 0 200 c.198C>T c.(196-198)ccC>ccT p.P66P UGT2B28_uc010ihr.3_Silent_p.P66P NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 66 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 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) TTTTTGATCCCAATGACGCAT 0.388000 121 99 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325315 57325315 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:57325315G>A uc002qnu.2 - 6 4846 c.4495C>T c.(4495-4497)Cag>Tag p.Q1499* PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Q1470*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Q1499*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Q1375*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Q1373*|PEG3_uc010etr.2_Nonsense_Mutation_p.Q1499* NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1499 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) TCTTCTACCTGAATCTCTTGA 0.483000 131 84 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62783684 62783684 + Nonsense_Mutation SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:62783684C>A uc001src.2 + 13 1835 c.1760C>A c.(1759-1761)tCa>tAa p.S587* USP15_uc001srb.2_Nonsense_Mutation_p.S558* NM_001252078 NP_001239007 Q9Y4E8 UBP15_HUMAN Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA. 587 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S558*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ACTGGTTCTTCACTTTTTGGT 0.393000 52 45 1.03325e-14 1.03999e-14 1 1 0 TET3 200424 broad.mit.edu 37 2 74328695 74328695 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:74328695G>A uc002skb.4 + 8 4375 c.4375G>A c.(4375-4377)Ggg>Agg p.G1459R NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 1459 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 GAAGCTGTTTGGGGCTCTGAA 0.657000 6 5 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57677670 57677670 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:57677670G>A uc009zpm.1 - 10 1101 c.1066C>T c.(1066-1068)Ctt>Ttt p.L356F R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.L17F|R3HDM2_uc001snr.2_Missense_Mutation_p.L83F|R3HDM2_uc001sns.2_Missense_Mutation_p.L356F|R3HDM2_uc001snt.2_Missense_Mutation_p.L370F NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 356 Ser-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 CCTCGGGTAAGGATAGAGATT 0.567000 188 133 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 184 138 7.33781e-80 7.44815e-80 1 1 0 CA2 760 broad.mit.edu 37 8 86392938 86392938 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:86392938G>A uc003ydk.2 + 6 883 c.703G>A c.(703-705)Gaa>Aaa p.E235K CA2_uc022axe.1_Non-coding_Transcript NM_000067 NP_000058 P00918 CAH2_HUMAN Homo sapiens carbonic anhydrase II (CA2), mRNA. 235 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) TGGGGAGGGTGAACCCGAAGA 0.393000 70 87 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151754010 151754010 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:151754010G>A uc009wnb.1 - 2 360 c.178C>T c.(178-180)Ccc>Tcc p.P60S TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.P60S|TDRKH_uc001ezc.4_Missense_Mutation_p.P60S|TDRKH_uc001eza.4_Missense_Mutation_p.P60S|TDRKH_uc001ezd.4_Missense_Mutation_p.P60S|TDRKH_uc010pdn.1_5'UTR NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 60 KH 1. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCTCCTGGGGAACCCGCATC 0.463000 121 89 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124293964 124293964 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:124293964G>A uc010sak.2 - 0 804 c.804C>T c.(802-804)aaC>aaT p.N268N NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 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;0.0279) ATCTGCCATGGTTCATAGAGC 0.448000 46 35 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66386797 66386797 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:66386797C>T uc002apm.2 - 4 478 c.337G>A c.(337-339)Gtt>Att p.V113I MEGF11_uc002apl.2_Missense_Mutation_p.V38I|MEGF11_uc002apn.1_Missense_Mutation_p.V113I NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 113 EGF-like 1. basolateral plasma membrane|integral to membrane p.V38I(1)|p.V113I(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TCCGGGGAAACGCAGCGGCCG 0.632000 2 2 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75798248 75798248 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:75798248A>G uc002bal.3 - 6 1244 c.736T>C c.(736-738)Tgg>Cgg p.W246R NM_002833 NP_002824 P43378 PTN9_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA. 246 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGAAATTCCAAGTGGCGAGA 0.512000 63 8 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721601 17721601 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:17721601A>C uc001bak.1 + 12 1492 c.1492A>C c.(1492-1494)Aag>Cag p.K498Q NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA. 490 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGAGGGCAAAAAGGTCTGCTT 0.493000 132 80 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31611742 31611742 + Missense_Mutation SNP C T T rs139174342 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:31611742C>T uc011kae.2 + 5 425 c.413C>T c.(412-414)cCc>cTc p.P138L CCDC129_uc011kad.1_Missense_Mutation_p.P122L|CCDC129_uc003tcj.1_Missense_Mutation_p.P112L|CCDC129_uc003tci.1_Missense_Mutation_p.P111L|CCDC129_uc003tck.1_Missense_Mutation_p.P20L NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 112 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TCAGAAACTCCCATCCTATCC 0.388000 20 8 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716408 153716408 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:153716408G>C uc022cig.1 - 0 872 c.872C>G c.(871-873)tCt>tGt p.S291C UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.S262C|SLC10A3_uc004flq.3_Missense_Mutation_p.S291C|SLC10A3_uc004flp.3_Missense_Mutation_p.S291C NM_019848 NP_062822 P09131 P3_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA. 291 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGCCACCGTAGAGAGGAAAGT 0.612000 119 6 0 0 1 0 0 TAAR8 83551 broad.mit.edu 37 6 132873848 132873848 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:132873848C>T uc011ecj.2 + 0 17 c.17C>T c.(16-18)tCc>tTc p.S6F NM_053278 NP_444508 Q969N4 TAAR8_HUMAN Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA. 6 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) AGCAATTTTTCCCAACCTGTT 0.393000 8 54 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809473 18809473 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:18809473G>A uc001bax.3 + 0 2050 c.1998G>A c.(1996-1998)aaG>aaA p.K666K KLHDC7A_uc009vpg.3_Silent_p.K448K NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 666 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGGGCAGCAAGGACCGCACGG 0.682000 36 20 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29998716 29998716 + Silent SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:29998716T>A uc010bzm.2 + 14 3179 c.3144T>A c.(3142-3144)gtT>gtA p.V1048V BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Silent_p.V928V|TAOK2_uc002dva.2_Silent_p.V1041V|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Silent_p.V868V NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 1041 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TCATGGGTGTTCCCCTGGGCC 0.687000 16 14 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130069878 130069878 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:130069878C>T uc001qfw.3 + 15 2033 c.1840C>T c.(1840-1842)Cgt>Tgt p.R614C NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 614 proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GAGACAGGCTCGTGTTGTTGG 0.612000 117 94 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26026220 26026220 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:26026220C>T uc010ayu.3 - 1 706 c.600G>A c.(598-600)ctG>ctA p.L200L NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 200 ATP biosynthetic process|regulation of cell shape 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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCTCTCCATCCAGGTTGGCGG 0.597000 96 76 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211280701 211280701 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:211280701C>T uc001hib.2 - 1 268 c.98G>A c.(97-99)gGg>gAg p.G33E KCNH1_uc001hic.2_Missense_Mutation_p.G33E NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 33 PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTGAGCATTCCCCAACACAAA 0.393000 75 77 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72828641 72828641 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:72828641G>A uc002fck.3 - 8 8613 c.7940C>T c.(7939-7941)aCc>aTc p.T2647I ZFHX3_uc002fcl.3_Missense_Mutation_p.T1733I NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2647 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGTGTGATGGTTGTTCTCAA 0.502000 297 221 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71604618 71604618 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:71604618G>A uc002fap.2 - 7 975 c.876C>T c.(874-876)atC>atT p.I292I NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 292 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CATGAATGAGGATCCAGCCCA 0.493000 65 57 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99459265 99459265 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:99459265C>T uc002bul.3 + 8 1951 c.1901C>T c.(1900-1902)cCc>cTc p.P634L IGF1R_uc010urq.2_Missense_Mutation_p.P634L|IGF1R_uc010bon.3_Missense_Mutation_p.P634L|IGF1R_uc010urr.1_Missense_Mutation_p.P84L NM_000875 NP_000866 P08069 IGF1R_HUMAN Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA. 634 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|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) TGGAACCCTCCCTCTCTGCCC 0.517000 83 102 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51465129 51465129 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:51465129G>A uc002puh.3 - 3 545 c.480C>T c.(478-480)ttC>ttT p.F160F KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.F151F|KLK6_uc002puj.3_Silent_p.F44F|KLK6_uc010ycn.2_Silent_p.F44F|KLK6_uc002pul.3_Silent_p.F151F|KLK6_uc002pum.3_Silent_p.F44F NM_001012965 NP_001012983 Q92876 KLK6_HUMAN Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA. 151 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TGGTGTCAGGGAAATCACCTG 0.587000 97 79 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35492257 35492257 + Missense_Mutation SNP C T T rs139194536 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:35492257C>T uc001mwf.3 - 4 647 c.604G>A c.(604-606)Gag>Aag p.E202K PAMR1_uc001mwg.3_Missense_Mutation_p.E202K|PAMR1_uc010rew.2_Intron|PAMR1_uc010rex.2_Missense_Mutation_p.E162K NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 202 CUB. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GCTGGCCGCTCGTTGCCACAG 0.517000 56 53 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834949 61834949 + Missense_Mutation SNP G T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:61834949G>T uc001jky.3 - 36 6028 c.5690C>A c.(5689-5691)tCc>tAc p.S1897Y ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1897 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.S1896C(1) 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 CTCCTGACTGGAAGATAAAGA 0.448000 14 26 3.90053e-15 3.92964e-15 1 1 0 KCNJ18 100134444 broad.mit.edu 37 17 21319242 21319242 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:21319242C>T uc021tss.1 + 2 958 c.588C>T c.(586-588)ttC>ttT p.F196F KCNJ18_uc002gyv.1_Silent_p.F196F|KCNJ18_uc021tst.1_Silent_p.F196F NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 196 integral to membrane inward rectifier potassium channel activity CGCTGCTGTTCAGCCACAACG 0.617000 76 16 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55211055 55211055 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:55211055C>T uc003tqk.3 + 2 544 c.298C>T c.(298-300)Cct>Tct p.P100S EGFR_uc003tqh.3_Missense_Mutation_p.P100S|EGFR_uc003tqi.3_Missense_Mutation_p.P100S|EGFR_uc003tqj.3_Missense_Mutation_p.P100S|EGFR_uc022adm.1_Missense_Mutation_p.P100S|EGFR_uc010kzg.2_Missense_Mutation_p.P100S|EGFR_uc022adn.1_Missense_Mutation_p.P100S|EGFR_uc011kco.2_Missense_Mutation_p.P47S NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 100 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 MAP kinase activity|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 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 UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) 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) GGAGCGAATTCCTTTGGAAAA 0.408000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 83 65 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57823921 57823921 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:57823921G>A uc010bfw.3 + 14 3428 c.3235G>A c.(3235-3237)Gaa>Aaa p.E1079K CGNL1_uc002aeg.3_Missense_Mutation_p.E1079K NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 1079 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GGAACTGGAAGAAGAGAGAAA 0.453000 95 97 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69335086 69335086 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:69335086C>T uc002ars.2 + 9 1629 c.1588C>T c.(1588-1590)Cgt>Tgt p.R530C MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.R484C|NOX5_uc002arp.2_Missense_Mutation_p.R512C|NOX5_uc010bid.2_Missense_Mutation_p.R495C|NOX5_uc010bie.2_Missense_Mutation_p.R330C|NOX5_uc002arr.2_Missense_Mutation_p.R502C|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 530 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CCCACTGGGCCGTGGTTCTAA 0.537000 62 21 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462406 5462406 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:5462406T>A uc002gci.3 - 3 2165 c.1610A>T c.(1609-1611)aAg>aTg p.K537M NLRP1_uc002gcg.1_Missense_Mutation_p.K537M|NLRP1_uc002gch.4_Missense_Mutation_p.K537M|NLRP1_uc002gck.3_Missense_Mutation_p.K537M|NLRP1_uc002gcj.3_Missense_Mutation_p.K537M|NLRP1_uc002gcl.3_Missense_Mutation_p.K537M|NLRP1_uc010clh.3_Missense_Mutation_p.K537M NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 537 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|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) GAGTTTTTCCTTCCGCTTCAT 0.542000 130 107 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516621 192516621 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:192516621G>A uc011bsp.2 - 1 1351 c.1030C>T c.(1030-1032)Cct>Tct p.P344S NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA. 344 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TAGTTGGCAGGAAGTCTGTCG 0.532000 46 42 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825433 74825433 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:74825433G>A uc021rwl.1 + 0 1947 c.1947G>A c.(1945-1947)acG>acA p.T649T VRTN_uc001xpw.4_Silent_p.T649T NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 649 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TCGCTACCACGAAGTTCAAGG 0.612000 55 43 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072036 9072036 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:9072036G>A uc002mkp.3 - 2 15614 c.15410C>T c.(15409-15411)tCc>tTc p.S5137F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5139 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 AGGGGAATGGGATTCATGTCC 0.453000 94 59 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462739 224462739 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:224462739C>T uc021vxk.1 - 0 1262 c.1262G>A c.(1261-1263)cGt>cAt p.R421H SCG2_uc002vnm.3_Missense_Mutation_p.R421H NM_003469 NP_003460 P13521 SCG2_HUMAN Homo sapiens secretogranin II (SCG2), mRNA. 421 R -> G (in dbSNP:rs17856669). MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) AGTCCCAGCACGACCAGGTGT 0.483000 62 60 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56222238 56222238 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:56222238G>C uc001shu.2 - 0 261 c.205C>G c.(205-207)Cat>Gat p.H69D DNAJC14_uc001shx.1_Missense_Mutation_p.H69D|DNAJC14_uc009zob.1_Missense_Mutation_p.H69D|DNAJC14_uc001shy.1_Missense_Mutation_p.H69D NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA. 69 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 TCCAACCAATGGGCTGGGTTT 0.577000 123 73 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59157987 59157987 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:59157987C>T uc010dps.1 + 0 353 c.201C>T c.(199-201)ttC>ttT p.F67F CDH20_uc002lif.2_Silent_p.F61F NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 67 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F67F(2) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) ACCAGTTTTTCGTTCTGGAAG 0.478000 122 83 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103444439 103444439 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:103444439G>A uc001dum.3 - 33 3040 c.2722C>T c.(2722-2724)Ccc>Tcc p.P908S COL11A1_uc001duk.3_Missense_Mutation_p.P92S|COL11A1_uc001dul.3_Missense_Mutation_p.P896S|COL11A1_uc001dun.3_Missense_Mutation_p.P857S|COL11A1_uc009weh.3_Missense_Mutation_p.P780S NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 896 Triple-helical region. 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) TTCCCAGTGGGACCTCTTGCA 0.408000 79 42 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140255408 140255408 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140255408C>T uc003lic.2 + 0 478 c.351C>T c.(349-351)ttC>ttT p.F117F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.F117F NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 132 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTTTTCCATGTGGACG 0.562000 211 143 0 0 1 0 0 C14orf135 64430 broad.mit.edu 37 14 60591812 60591812 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:60591812G>A uc001xer.4 + 7 2743 c.2221G>A c.(2221-2223)Gta>Ata p.V741I C14orf135_uc001xeq.2_Missense_Mutation_p.V741I|C14orf135_uc010apm.3_Non-coding_Transcript NM_022495 NP_071940 Q63HM2 CN135_HUMAN Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA. 975 integral to membrane p.V741L(2) endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) TGTTCATACAGTAATGACTTG 0.363000 11 14 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852530 40852530 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:40852530G>A uc003jmg.3 + 2 1171 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 366 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GGAGAATTTGGAAATTCGAGA 0.458000 56 34 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634452 70634452 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:70634452G>A uc001xly.3 - 1 1442 c.688C>T c.(688-690)Cag>Tag p.Q230* SLC8A3_uc001xlw.3_Nonsense_Mutation_p.Q230*|SLC8A3_uc001xlx.3_Nonsense_Mutation_p.Q230*|SLC8A3_uc001xlz.3_Nonsense_Mutation_p.Q230*|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 230 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.Q230*(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCCCAAACCTGGACCACACCA 0.493000 40 22 0 0 1 0 0 OR8G2 26492 broad.mit.edu 37 11 124095618 124095618 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:124095618A>C uc010saf.2 + 0 221 c.221A>C c.(220-222)tAt>tCt p.Y74S NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 74 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CCCATGTACTATTTCCTCAGT 0.458000 166 118 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28116513 28116513 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:28116513C>T uc001rik.3 - 2 595 c.292G>A c.(292-294)Gat>Aat p.D98N PTHLH_uc001ril.3_Missense_Mutation_p.D98N|PTHLH_uc001rim.3_Missense_Mutation_p.D98N|PTHLH_uc001rin.3_Missense_Mutation_p.D98N NM_198966 NP_945317 P12272 PTHR_HUMAN Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA. 98 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) CCCTCATCATCAGACCCAAAT 0.527000 144 101 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276950 71276950 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:71276950C>T uc001oqt.1 + 0 342 c.317C>T c.(316-318)tCt>tTt p.S106F NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA. 106 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGCTGTGGTTCTTGTGGGGGC 0.677000 116 103 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197446994 197446994 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:197446994G>A uc001gtz.3 + 11 4415 c.4206G>A c.(4204-4206)atG>atA p.M1402I CRB1_uc010poz.2_Missense_Mutation_p.M1378I|CRB1_uc009wza.3_Missense_Mutation_p.M1290I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.M866I|CRB1_uc010ppd.2_Missense_Mutation_p.M883I NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1402 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 CCCCTGCAATGGAGAGACTGA 0.522000 175 45 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197784778 197784778 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:197784778G>A uc002utw.3 - 1 358 c.244C>T c.(244-246)Cct>Tct p.P82S PGAP1_uc002utx.3_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.P82S|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_5'UTR NM_024989 NP_079265 Q75T13 PGAP1_HUMAN Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA. 82 C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 CCCGTCAAAGGGAGAATTTTG 0.373000 92 59 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52129397 52129397 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:52129397A>G uc003pan.1 - 16 2526 c.2416T>C c.(2416-2418)Ttc>Ctc p.F806L MCM3_uc011dwu.1_Missense_Mutation_p.F760L NM_002388 NP_002379 P25205 MCM3_HUMAN Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA. 806 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CAGATGAGGAAGATGATGCCC 0.537000 175 73 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20803563 20803563 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:20803563G>A uc010vba.2 + 11 1622 c.1547G>A c.(1546-1548)cGa>cAa p.R516Q ACSM3_uc002dhr.3_Missense_Mutation_p.R487Q|ERI2_uc002dhs.3_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA. 487 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TCTAGCTATCGAATTGGACCA 0.448000 368 252 0 0 1 0 0 LOC440563 440563 broad.mit.edu 37 1 13183493 13183493 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:13183493G>A uc010obg.2 - 1 623 c.380C>T c.(379-381)cCa>cTa p.P127L NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 127 ribonucleoprotein complex nucleic acid binding|nucleotide binding TACACGTGCTGGGAAACTGTA 0.522000 179 14 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183600827 183600827 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:183600827C>T uc003ivd.1 + 6 1410 c.1335C>T c.(1333-1335)ttC>ttT p.F445F ODZ3_uc003ive.1_5'Flank NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 445 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGTATGACTTCGTGGAGCTCC 0.532000 88 61 0 0 1 0 0 CCDC22 28952 broad.mit.edu 37 X 49099919 49099919 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:49099919C>T uc004dnd.2 + 5 875 c.705C>T c.(703-705)ctC>ctT p.L235L CCDC22_uc011mna.2_Silent_p.L235L NM_014008 NP_054727 O60826 CCD22_HUMAN Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA. 235 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 CATCCCGCCTCCCACCCCAGG 0.677000 14 14 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26802584 26802584 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:26802584C>T uc001iss.3 + 7 1129 c.808C>T c.(808-810)Ccc>Tcc p.P270S APBB1IP_uc009xks.1_Missense_Mutation_p.P270S NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA. 270 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 ATTTAAAAACCCCCAGGTAAG 0.348000 83 42 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76111877 76111877 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:76111877C>T uc011kgk.1 + 2 400 c.48C>T c.(46-48)ggC>ggT p.G16G DTX2_uc003uff.4_Silent_p.G107G|DTX2_uc003ufg.4_Silent_p.G107G|DTX2_uc003ufh.4_Silent_p.G107G|DTX2_uc003ufj.4_Silent_p.G107G NM_020892 NP_065943 Q86UW9 DTX2_HUMAN Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA. 107 WWE 1. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CAGCCCCTGGCCGAGGTGTCG 0.587000 59 62 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140810971 140810971 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:140810971G>A uc021xsg.1 - 1 2371 c.1619C>T c.(1618-1620)cCa>cTa p.P540L MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 536 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GTACATCATTGGGCTATTTGG 0.448000 317 189 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19662553 19662553 + Silent SNP G A A rs35797096 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:19662553G>A uc002wrl.3 + 9 1016 c.819G>A c.(817-819)ggG>ggA p.G273G NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 273 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AAGGTGCCGGGAACATGGTCA 0.483000 84 55 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78958681 78958681 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:78958681G>A uc001din.3 + 1 519 c.253G>A c.(253-255)Gga>Aga p.G85R PTGFR_uc001dim.3_Missense_Mutation_p.G85R NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 85 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TCTCATCAATGGAGCCATAGC 0.413000 131 84 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121944267 121944267 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:121944267G>A uc003vkd.3 - 0 299 c.225C>T c.(223-225)atC>atT p.I75I FEZF1_uc003vkc.3_Silent_p.I75I|LOC154860_uc010lko.2_Non-coding_Transcript NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA. 75 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCACGAAGGGGATCATGCAGG 0.687000 13 53 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3208638 3208638 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:3208638C>T uc021xkv.1 + 43 6148 c.6003C>T c.(6001-6003)ttC>ttT p.F2001F NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2001 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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) GCACCCCTTTCCGTGTGCTGG 0.527000 64 39 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119866561 119866561 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:119866561G>A uc001txe.3 + 1 629 c.164G>A c.(163-165)cGa>cAa p.R55Q AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 55 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GACCTTATACGAAGCCGGTGA 0.478000 16 10 0 0 1 0 0 SH2D4A 63898 broad.mit.edu 37 8 19192312 19192312 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:19192312G>A uc003wzc.3 + 3 765 c.457G>A c.(457-459)Gag>Aag p.E153K SH2D4A_uc003wzb.3_Missense_Mutation_p.E153K|SH2D4A_uc011kym.2_Missense_Mutation_p.E108K NM_001174159 NP_071354 Q9H788 SH24A_HUMAN Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA. 153 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) GGCAGAAAAGGAGGAACTGGA 0.473000 13 43 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477210 110477210 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:110477210G>A uc003yne.3 + 48 8253 c.8149G>A c.(8149-8151)Gga>Aga p.G2717R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2717 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) TGATGAACTGGGAATGGGGTC 0.473000 HNSCC(38;0.096) 212 68 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86831436 86831436 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:86831436C>T uc002srn.3 - 3 2579 c.1588G>A c.(1588-1590)Gag>Aag p.E530K RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.E391K|RNF103_uc021vkg.1_Missense_Mutation_p.E526K|BC066991_uc002sro.3_Non-coding_Transcript NM_005667 NP_005658 O00237 RN103_HUMAN Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. 530 ER-associated protein catabolic process|central nervous system development endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 TGAGACCCCTCCGACATTTCC 0.403000 251 180 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56969613 56969613 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:56969613A>T uc002qne.3 - 5 955 c.164T>A c.(163-165)cTt>cAt p.L55H ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.L55H|ZNF667_uc010etm.3_5'UTR NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA. 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CCGAAAGGAAAGACCTGTACG 0.498000 51 37 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181690986 181690986 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:181690986C>T uc009wxt.3 + 15 2244 c.2049C>T c.(2047-2049)ttC>ttT p.F683F CACNA1E_uc001gow.3_Silent_p.F683F|CACNA1E_uc009wxs.3_Silent_p.F683F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 683 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCATCTACTTCATTGTGCTCA 0.522000 185 104 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156874633 156874633 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:156874633C>T uc001fqj.1 + 2 311 c.195C>T c.(193-195)tgC>tgT p.C65C PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 65 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCATACTTGCCCCCAGCCCA 0.657000 41 36 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563864 228563864 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:228563864G>A uc002vpi.3 - 2 656 c.567C>T c.(565-567)ttC>ttT p.F189F SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.F185F NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA. 189 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) GCATTGGTAGGAAAAGTGAGA 0.443000 62 42 0 0 1 0 0 NEXN 91624 broad.mit.edu 37 1 78408167 78408167 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:78408167G>A uc001dic.4 + 12 1978 c.1681G>A c.(1681-1683)Gaa>Aaa p.E561K NEXN_uc001dib.4_Missense_Mutation_p.E497K|NEXN_uc001did.1_Missense_Mutation_p.E471K|NEXN_uc001dif.1_Missense_Mutation_p.E453K|NEXN_uc001dig.4_Missense_Mutation_p.E202K NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. 561 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization Z disc|cytoskeleton actin filament binding|structural constituent of muscle p.E560E(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) GGAGGAGGAGGAAGAAGGTAG 0.388000 66 23 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54569418 54569418 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:54569418C>T uc022bxi.1 + 5 593 c.337C>T c.(337-339)Cct>Tct p.P113S GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.P113S NM_001184819 NP_061940 Q9NVN8 GNL3L_HUMAN Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA. 113 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 AAATATGTTTCCTCAGCTGGA 0.488000 36 33 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66986991 66986991 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:66986991C>T uc002jhu.3 - 28 3967 c.3824G>A c.(3823-3825)cGa>cAa p.R1275Q ABCA9_uc010dez.3_Missense_Mutation_p.R1237Q NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 1275 transport integral to membrane ATP binding|ATPase activity p.R1275*(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ATCAAAGTCTCGCACAGCCAT 0.388000 62 45 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169656114 169656114 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:169656114G>A uc003fgd.3 + 8 1428 c.1161G>A c.(1159-1161)caG>caA p.Q387Q SAMD7_uc003fge.3_Silent_p.Q387Q|SAMD7_uc011bpo.2_Silent_p.Q288Q NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 387 SAM. NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGGTATCTCAGCATGTGGGAA 0.338000 79 46 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28877367 28877367 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:28877367G>A uc001usb.3 - 29 4239 c.3954C>T c.(3952-3954)atC>atT p.I1318I FLT1_uc010aap.2_Silent_p.I323I|FLT1_uc010aaq.2_Silent_p.I443I|FLT1_uc001usa.3_Silent_p.I536I NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 1318 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|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) AGCAGCACGCGATTTTCCTTT 0.567000 93 79 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185109117 185109117 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:185109117G>A uc001grf.4 - 7 1369 c.1097C>T c.(1096-1098)tCt>tTt p.S366F TRMT1L_uc010pon.2_Missense_Mutation_p.S210F NM_030934 NP_001189352 Q7Z2T5 TRM1L_HUMAN Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA. 366 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 GAAATCAAAAGATCTCAAATG 0.333000 76 33 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436035 158436035 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:158436035C>T uc010pij.2 + 0 684 c.684C>T c.(682-684)atC>atT p.I228I NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTCTAAAAATCCCTTCCTCCG 0.458000 75 54 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17068707 17068707 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:17068707C>T uc002nfb.3 - 18 2405 c.2373G>A c.(2371-2373)agG>agA p.R791R NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 744 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGAAGAAAGTCCTTTTTCTCT 0.363000 185 124 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23654022 23654022 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:23654022C>T uc002zww.3 + 19 3918 c.3322_splice c.e19+1 p.N1108_splice BCR_uc002zwx.3_Splice_Site_p.N1064_splice|BCR_uc011aiy.2_Splice_Site_p.N697_splice NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 1108 Rho-GAP. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCTTCGACGTCAGTGAGTGTT 0.627000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 14 131 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179564869 179564869 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:179564869G>A uc010pnp.2 + 3 1265 c.747G>A c.(745-747)ccG>ccA p.P249P TDRD5_uc021pfm.1_Silent_p.P249P|TDRD5_uc001gnf.2_Silent_p.P249P|TDRD5_uc021pfn.1_Silent_p.P249P NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 249 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGGAACCACCGAAGCAAATAA 0.398000 89 63 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203620295 203620295 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:203620295T>G uc010zhx.2 + 4 1005 c.995T>G c.(994-996)aTt>aGt p.I332S NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 332 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 ATTCCTGTAATTCCCATCACC 0.413000 126 82 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110426821 110426821 + Missense_Mutation SNP G T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:110426821G>T uc001tps.2 - 3 517 c.352C>A c.(352-354)Cat>Aat p.H118N GIT2_uc001tpq.2_Missense_Mutation_p.H118N|GIT2_uc001tpv.2_Missense_Mutation_p.H118N|GIT2_uc001tpu.2_Missense_Mutation_p.H118N|GIT2_uc001tpt.2_Missense_Mutation_p.H118N|GIT2_uc010sxu.1_Missense_Mutation_p.H56N|GIT2_uc001tpw.3_Missense_Mutation_p.H118N|GIT2_uc010sxv.1_Missense_Mutation_p.H118N NM_057169 NP_476510 Q14161 GIT2_HUMAN Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA. 118 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 GGCAAGCGATGGACGAACGCT 0.453000 311 10 0.0135373 0.0135498 1 1 0 DSG1 1828 broad.mit.edu 37 18 28916455 28916455 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:28916455G>A uc002kwp.3 + 8 1356 c.1144G>A c.(1144-1146)Ggc>Agc p.G382S NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 382 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGTAATTGAAGGCCCAGTGTT 0.368000 49 39 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935544 30935544 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:30935544T>C uc002nsu.1 + 1 1213 c.1075T>C c.(1075-1077)Ttc>Ctc p.F359L ZNF536_uc010edd.1_Missense_Mutation_p.F359L NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCAGGCGTGGTTCCTCAAGGG 0.647000 188 113 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40639207 40639207 + Missense_Mutation SNP T C C rs111886720 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:40639207T>C uc002hzs.3 + 9 1033 c.866T>C c.(865-867)gTt>gCt p.V289A ATP6V0A1_uc002hzr.3_Missense_Mutation_p.V282A|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.V282A|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.V239A|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.V239A|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.V141A NM_001130020 NP_001123492 Q93050 VPP1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA. 282 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CGCCAGAGGGTTCTGCAGGCA 0.478000 116 95 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21169800 21169800 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:21169800C>T uc001iqi.3 - 4 800 c.403G>A c.(403-405)Gga>Aga p.G135R NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 135 KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858). 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 TCTGAGAATCCTTTGGCAGCA 0.413000 69 52 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395831 47395831 + Missense_Mutation SNP G A A rs58897090 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:47395831G>A uc001cqp.4 - 11 1567 c.1516C>T c.(1516-1518)Ctc>Ttc p.L506F NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 506 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGCCTCCTGAGACGCAGGTGG 0.577000 86 8 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184090587 184090588 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:184090587_184090588CC>TT uc003fol.1 - 5 990_991 c.775_776GG>AA c.(775-777)gga>AAa p.G259K THPO_uc003fom.2_Missense_Mutation_p.G255K|THPO_uc021xii.1_Nonsense_Mutation_p.W253*|THPO_uc003fon.3_Nonsense_Mutation_p.W220*|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Nonsense_Mutation_p.W216*|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Nonsense_Mutation_p.W180* NM_000460 NP_000451 P40225 TPO_HUMAN Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA. 259 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAAAGAGTCCACGAGTTCCA 0.559000 132 82 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26923281 26923281 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:26923281G>C uc001uqr.1 + 2 300 c.277G>C c.(277-279)Gtg>Ctg p.V93L CDK8_uc001uqs.1_Missense_Mutation_p.V93L|CDK8_uc001uqt.1_5'UTR NM_001260 NP_001251 P49336 CDK8_HUMAN Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA. 93 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TGATAGGAAGGTGTGGCTTCT 0.413000 205 85 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42058862 42058862 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:42058862G>A uc010ucy.2 + 23 8763 c.8582G>A c.(8581-8583)cGg>cAg p.R2861Q MGA_uc010ucz.2_Missense_Mutation_p.R2652Q NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 2822 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GATGCTCGGCGGGCTTTTATT 0.468000 92 82 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422418 26422418 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:26422418G>A uc003abz.1 + 42 6728 c.6478G>A c.(6478-6480)Gaa>Aaa p.E2160K MYO18B_uc003aca.1_Missense_Mutation_p.E2041K|MYO18B_uc010guy.1_Missense_Mutation_p.E2042K|MYO18B_uc010guz.1_Missense_Mutation_p.E2040K|MYO18B_uc011aka.1_Missense_Mutation_p.E1314K|MYO18B_uc011akb.1_Missense_Mutation_p.E1673K|MYO18B_uc010gva.1_Missense_Mutation_p.E143K|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2160 nucleus|sarcomere|unconventional myosin complex ATP binding|actin 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 CAGGATAAACGAAGAGGCTGG 0.502000 33 261 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50521197 50521197 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:50521197G>A uc001zxw.3 + 7 1745 c.1513G>A c.(1513-1515)Gat>Aat p.D505N SLC27A2_uc010bes.3_Missense_Mutation_p.D452N|SLC27A2_uc001zxx.3_Missense_Mutation_p.D270N NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 505 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TGGACTGGTTGATTTTGTCCA 0.428000 28 38 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364224 23364224 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:23364224G>A uc002dln.3 + 2 590 c.414G>A c.(412-414)agG>agA p.R138R NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 138 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) ATGCCACCAGGAACCTGAACT 0.517000 92 58 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11757633 11757633 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:11757633G>A uc002gne.3 + 49 9889 c.9821G>A c.(9820-9822)aGa>aAa p.R3274K DNAH9_uc010coo.3_Missense_Mutation_p.R2568K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3274 Stalk (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) AATATTGTGAGATTTTATGAG 0.542000 130 64 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78082287 78082287 + Splice_Site SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:78082287G>A uc002jxp.3 + 7 1443 c.1076_splice c.e7-1 p.G359_splice GAA_uc002jxo.3_Splice_Site_p.G359_splice|GAA_uc002jxq.3_Splice_Site_p.G359_splice NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 359 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) TTGGCCTGCAGGATACCCGTT 0.672000 24 22 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123273331 123273331 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:123273331T>G uc001udc.3 + 4 687 c.525T>G c.(523-525)aaT>aaG p.N175K CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_5'UTR NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. 175 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) AGGCAGTTAATCACATTGCAG 0.333000 81 51 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38536042 38536042 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:38536042G>A uc003auy.1 - 4 880 c.744C>T c.(742-744)atC>atT p.I248I PLA2G6_uc003auz.1_Silent_p.I248I|PLA2G6_uc003ava.1_Silent_p.I248I|PLA2G6_uc003avb.2_Silent_p.I248I|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Intron NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 248 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) TGGGGCCCATGATGTTGCACC 0.627000 11 31 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527628 70527628 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:70527628C>T uc001xly.3 - 2 2567 c.1813G>A c.(1813-1815)Gag>Aag p.E605K SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Missense_Mutation_p.E605K|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Missense_Mutation_p.E605K|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 605 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TATTCCTCCTCATCTACTATT 0.438000 56 43 0 0 1 0 0 GSTM1 2944 broad.mit.edu 37 1 110230843 110230843 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:110230843G>A uc001dyk.3 + 1 166 c.88G>A c.(88-90)Gaa>Aaa p.E30K GSTM1_uc001dyl.3_Missense_Mutation_p.E30K NM_000561 NP_000552 P09488 GSTM1_HUMAN Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript variant 1, mRNA. 30 GST N-terminal. xenobiotic metabolic process cytosol glutathione transferase activity endometrium(1)|lung(1)|ovary(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) AAGCTATGAGGAAAAGAAGTA 0.602000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 201 149 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273445 125273445 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:125273445G>A uc011lyv.2 + 0 365 c.365G>A c.(364-366)cGa>cAa p.R122Q OR1J2_uc004bmj.2_Missense_Mutation_p.R122Q NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122L(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 GCATATGACCGATATGTTGCC 0.408000 11 34 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47776895 47776895 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:47776895C>T uc002zji.4 + 12 2050 c.1943C>T c.(1942-1944)cCc>cTc p.P648L PCNT_uc002zjj.3_Missense_Mutation_p.P530L NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 648 Glu-rich. G2/M transition of mitotic cell cycle|cilium assembly 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) ACAGAGCTTCCCTGGGTGCAT 0.607000 82 67 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389635 20389635 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:20389635G>A uc010tkw.2 + 0 870 c.870G>A c.(868-870)agG>agA p.R290R NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATACACTAAGGAATAGGGATA 0.398000 174 65 0 0 1 0 0 ZFP112 7771 broad.mit.edu 37 19 44831935 44831935 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:44831935A>G uc010xwy.2 - 4 2562 c.2444T>C c.(2443-2445)gTt>gCt p.V815A ZFP112_uc010ejj.3_Missense_Mutation_p.V798A|ZFP112_uc002ozc.4_Missense_Mutation_p.V792A|ZFP112_uc010xwz.2_Missense_Mutation_p.V797A NM_013380 NP_037512 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA. 798 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 TTCCACATGAACCCTTTGGTG 0.478000 120 89 0 0 1 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283787 151283787 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:151283787C>T uc004ffj.3 - 2 398 c.226G>A c.(226-228)Gat>Aat p.D76N MAGEA5_uc022cgy.1_Missense_Mutation_p.D76N NM_021049 NP_066387 P43359 MAGA5_HUMAN Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA. 76 MAGE. p.D76N(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Acute lymphoblastic leukemia(192;6.56e-05) AGAGTGAAATCGATGGCAGTG 0.612000 108 70 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10973718 10973718 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:10973718C>T uc003jfa.1 - 21 3670 c.3525G>A c.(3523-3525)caG>caA p.Q1175Q CTNND2_uc010itt.2_Silent_p.Q1084Q|CTNND2_uc011cmy.1_Silent_p.Q838Q|CTNND2_uc011cmz.1_Silent_p.Q742Q|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.Q767Q NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 1175 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 GATGGTGGACCTGGTCCTCGA 0.552000 88 73 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46784672 46784672 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:46784672G>A uc001ndi.2 - 29 3871 c.3745C>T c.(3745-3747)Ctt>Ttt p.L1249F CKAP5_uc009ylg.1_Missense_Mutation_p.L1135F|CKAP5_uc001ndj.2_Missense_Mutation_p.L1249F|CKAP5_uc001ndh.1_Missense_Mutation_p.L178F|SNORD67_uc001ndk.3_5'Flank NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 1249 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|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 CTCAGGGTAAGCCACTTTAAG 0.348000 144 105 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912768 77912768 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:77912768C>T uc022bzi.1 - 0 1150 c.1150G>A c.(1150-1152)Gat>Aat p.D384N ZCCHC5_uc004edc.1_Missense_Mutation_p.D384N NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 384 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GTGATGAGATCAGATAGGTTG 0.498000 107 82 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45959038 45959038 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:45959038C>T uc010gzz.3 + 15 2205 c.2058C>T c.(2056-2058)gtC>gtT p.V686V FBLN1_uc003bgh.3_Silent_p.V648V|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 666 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCAAGCCTGTCCCCGAGCCCA 0.612000 12 106 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986533 51986533 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:51986533G>A uc002pwv.1 + 4 1119 c.1119G>A c.(1117-1119)agG>agA p.R373R NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 373 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGGACGTCAGGATCCAGGCCC 0.597000 56 36 0 0 1 0 0 NCEH1 57552 broad.mit.edu 37 3 172353768 172353768 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:172353768C>T uc011bpx.2 - 3 805 c.667G>A c.(667-669)Ggc>Agc p.G223S NCEH1_uc003fig.3_Missense_Mutation_p.G215S|NCEH1_uc011bpw.2_Missense_Mutation_p.G50S|NCEH1_uc011bpy.2_Missense_Mutation_p.G50S NM_001146276 NP_001139750 Q6PIU2 NCEH1_HUMAN Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA. 183 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 CAAATTCTGCCTGGATCAACC 0.463000 141 109 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171293297 171293297 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:171293297G>A uc001gho.3 + 4 559 c.342G>A c.(340-342)acG>acA p.T114T NM_002022 NP_002013 P31512 FMO4_HUMAN Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA. 114 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.T114M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GCAGCATAACGAAGCGTCCAG 0.468000 203 147 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71710379 71710379 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:71710379G>A uc002fax.3 - 7 1448 c.1442C>T c.(1441-1443)tCc>tTc p.S481F PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.S481F NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 481 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 GGTCCGAAGGGAAAAGCCACT 0.498000 50 35 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10300158 10300158 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:10300158A>C uc002gmm.2 - 30 4419 c.4324T>G c.(4324-4326)Tgt>Ggt p.C1442G AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1442 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 AGGGCTGCACAGGCTGCATTA 0.468000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 63 37 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076887 9076887 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:9076887G>A uc002mkp.3 - 2 10763 c.10559C>T c.(10558-10560)tCa>tTa p.S3520L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3521 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 CGCAGGAGATGAAGTCTGAGA 0.507000 190 91 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172232732 172232732 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:172232732A>C uc003fid.3 - 1 312 c.189T>G c.(187-189)agT>agG p.S63R TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S63R NM_003810 NP_003801 P50591 TNF10_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA. 63 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) GGTCCCAATAACTGTCATCTT 0.443000 121 91 0 0 1 0 0 NSRP1 84081 broad.mit.edu 37 17 28511789 28511789 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:28511789T>G uc002heu.3 + 6 802 c.774T>G c.(772-774)gaT>gaG p.D258E NSRP1_uc002hev.3_Missense_Mutation_p.D204E|NSRP1_uc010wbl.2_Missense_Mutation_p.D204E|NSRP1_uc010wbm.2_Missense_Mutation_p.D204E|NSRP1_uc002hex.3_Missense_Mutation_p.D204E NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA. 258 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 GTGCGGATGATGAAATAGAAG 0.443000 32 28 0 0 1 0 0 RPL23AP53 644128 broad.mit.edu 37 8 163215 163215 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:163215G>A uc010lra.3 - 3 c.918C>T RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA. AGATACACATGTATTTAGAGT 0.323000 26 4 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106982971 106982971 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:106982971C>T uc001kyi.1 + 19 3059 c.2832C>T c.(2830-2832)acC>acT p.T944T SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 944 integral to membrane neuropeptide receptor activity p.G943G(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AACTGGGGACCCTTACCTATT 0.458000 42 142 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140772810 140772810 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140772810G>A uc003lkd.2 + 0 1328 c.430G>A c.(430-432)Gaa>Aaa p.E144K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E144K|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 144 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAATTAACGAAATCGCGGT 0.443000 65 41 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52521917 52521917 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:52521917C>T uc003ded.4 + 15 2543 c.2409C>T c.(2407-2409)ttC>ttT p.F803F NISCH_uc003dee.4_Silent_p.F292F|NISCH_uc003deg.1_Non-coding_Transcript NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 803 Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGCACGAGTTCCACGCGGACC 0.607000 6 35 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270030 114270030 + Silent SNP G A A rs138037147 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:114270030G>A uc003vhb.3 + 4 941 c.567G>A c.(565-567)caG>caA p.Q189Q FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q214Q|FOXP2_uc003vha.3_Silent_p.Q97Q|FOXP2_uc011kmv.2_Silent_p.Q189Q|FOXP2_uc011kmu.2_Silent_p.Q206Q|FOXP2_uc010ljz.2_Silent_p.Q97Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q189Q|FOXP2_uc003vgx.2_Silent_p.Q189Q|FOXP2_uc003vhc.3_Silent_p.Q214Q|FOXP2_uc003vhd.3_Silent_p.Q189Q NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 189 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcagcaacagcaTC 0.493000 62 3 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43310340 43310340 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:43310340G>A uc010dnk.3 + 3 445 c.223G>A c.(223-225)Gaa>Aaa p.E75K SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.E19K|SLC14A1_uc002lbf.4_Missense_Mutation_p.E19K|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.E75K|SLC14A1_uc002lbk.4_Missense_Mutation_p.E19K|SLC14A1_uc021ujg.1_Missense_Mutation_p.E19K NM_001128588 NP_056949 Q13336 UT1_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA. 19 integral to plasma membrane urea transmembrane transporter activity p.P75P(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GGTTAGGGGTGAAAACCAGGT 0.507000 71 53 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57351711 57351711 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:57351711G>A uc001cyo.2 + 6 1099 c.967G>A c.(967-969)Gat>Aat p.D323N NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 323 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex p.P322P(1) 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 GGAGCTTCCAGATCAGTACAA 0.413000 87 51 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40411993 40411993 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:40411993G>A uc002omp.4 - 6 3643 c.3635C>T c.(3634-3636)tCc>tTc p.S1212F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1212 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTGGCAAAGGGAATCACATCC 0.672000 51 33 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49391365 49391365 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:49391365G>A uc002pkz.2 - 7 941 c.790C>T c.(790-792)Ccc>Tcc p.P264S NM_003323 NP_003314 O00295 TULP2_HUMAN Homo sapiens tubby like protein 2 (TULP2), mRNA. 264 visual perception cytoplasm|extracellular region p.S263F(1) NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CCAGGGCAGGGGGAGCGGATT 0.637000 43 28 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41712504 41712504 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:41712504C>T uc003ora.2 - 1 169 c.102G>A c.(100-102)aaG>aaA p.K34K PGC_uc021yzm.1_Silent_p.K34K NM_002630 NP_002621 P20142 PEPC_HUMAN Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA. 34 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) AGCCCTTCTCCTTCATGGTCT 0.542000 72 24 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761137 92761137 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:92761137G>A uc003umh.1 - 4 5364 c.4148C>T c.(4147-4149)tCc>tTc p.S1383F SAMD9L_uc003umj.1_Missense_Mutation_p.S1383F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1383F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1383F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1383F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1383F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1383F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1383F NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1383 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGCCAAAATGGAATTTTGTTT 0.378000 150 96 0 0 1 0 0 C20orf132 140699 broad.mit.edu 37 20 35749341 35749341 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:35749341C>T uc010zvu.2 - 16 2166 c.2075G>A c.(2074-2076)gGa>gAa p.G692E C20orf132_uc002xgk.3_Missense_Mutation_p.G324E NM_152503 NP_689716 Q9H579 CT132_HUMAN Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA. 0 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(115;0.00878) GCCATCTTTTCCTCCCAGGAG 0.453000 46 32 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33151926 33151926 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:33151926C>T uc003ocx.1 - 7 1343 c.1115G>A c.(1114-1116)gGa>gAa p.G372E COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 372 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 ACTTACGGCTCCTGAGTGGGC 0.532000 128 46 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153222123 153222123 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:153222123G>A uc004fjp.3 - 14 3116 c.2588C>T c.(2587-2589)tCc>tTc p.S863F NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 863 Interaction with GABP2.|Interaction with ZBTB17. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTGACGGCGGAGACGGTGAC 0.632000 129 90 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144483 65144483 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:65144483G>A uc001odr.1 - 5 608 c.404C>T c.(403-405)gCc>gTc p.A135V SLC25A45_uc009yqi.1_Missense_Mutation_p.A73V|SLC25A45_uc001odq.1_Missense_Mutation_p.A111V|SLC25A45_uc001ods.1_Missense_Mutation_p.A93V|SLC25A45_uc001odt.1_Missense_Mutation_p.A93V NM_182556 NP_001070709 Q8N413 S2545_HUMAN Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA. 135 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 CCCTGGCTGGGCCCTTGGCTC 0.662000 34 34 0 0 1 0 0 STXBP4 252983 broad.mit.edu 37 17 53237185 53237185 + Silent SNP C T T rs115962086 byFrequency TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:53237185C>T uc002iuf.1 + 17 1782 c.1575C>T c.(1573-1575)atC>atT p.I525I STXBP4_uc010dcd.1_Silent_p.I503I NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA. 525 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 CATCCTGGATCCATCCCGTGA 0.433000 66 46 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811621 73811621 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:73811621C>T uc004ebu.3 - 4 1819 c.1529G>A c.(1528-1530)cGa>cAa p.R510Q RLIM_uc004ebw.3_Missense_Mutation_p.R510Q NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA. 510 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCGACCCTCTCGCCTGGCACC 0.478000 34 33 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 65983580 65983580 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:65983580T>A uc002api.3 - 22 3734 c.3349A>T c.(3349-3351)Agc>Tgc p.S1117C DENND4A_uc002aph.3_Missense_Mutation_p.S1074C|DENND4A_uc002apj.3_Missense_Mutation_p.S1074C NM_001144823 NP_001138295 Q7Z401 MYCPP_HUMAN Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA. 1074 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GGTCTCGTGCTTTTTGAGATA 0.368000 11 11 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369420 86369420 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:86369420C>T uc001vll.1 - 1 1683 c.1224G>A c.(1222-1224)atG>atA p.M408I SLITRK6_uc021rla.1_Missense_Mutation_p.M408I NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 408 integral to membrane p.M408I(2)|p.F407C(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCGTTAGGTTCATAAACGATC 0.343000 28 19 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152804264 152804264 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:152804264C>T uc021zhb.1 - 11 1529 c.1306G>A c.(1306-1308)Gag>Aag p.E436K SYNE1_uc003qot.4_Missense_Mutation_p.E443K|SYNE1_uc003qou.4_Missense_Mutation_p.E436K|SYNE1_uc010kjb.1_Missense_Mutation_p.E419K|SYNE1_uc003qpa.1_Missense_Mutation_p.E436K|SYNE1_uc003qox.1_5'UTR NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 436 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) GCTGTTTCCTCGTGGACCTGT 0.493000 HNSCC(10;0.0054) 43 131 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340395 55340395 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55340395C>T uc010rih.2 + 0 792 c.792C>T c.(790-792)ccC>ccT p.P264P NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CCGTATTCCCCATGGATAAGA 0.398000 70 48 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719158 140719158 + Missense_Mutation SNP T C C rs75694557 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140719158T>C uc003ljk.2 + 0 805 c.620T>C c.(619-621)gTt>gCt p.V207A PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.V207A NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 207 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGAGGCTGTTCACCACCTC 0.597000 46 43 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46060276 46060276 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:46060276A>T uc003gxb.3 - 6 1026 c.874T>A c.(874-876)Ttt>Att p.F292I NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 292 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTGATCCAAAAAGACACCCAA 0.343000 73 58 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592936 158592936 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:158592936G>A uc001fst.1 - 42 6156 c.5957C>T c.(5956-5958)cCc>cTc p.P1986L NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1986 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.P1986P(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGTGATCTCGGGAAGTCTCTC 0.502000 416 268 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38830211 38830211 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:38830211G>A uc021yzh.1 + 43 6396 c.6287G>A c.(6286-6288)aGa>aAa p.R2096K DNAH8_uc003ooe.2_Missense_Mutation_p.R1879K NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. 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 ATGGATTTCAGAGGCCTAGGA 0.358000 198 81 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48500526 48500526 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:48500526C>T uc002xuv.1 + 13 1624 c.1414C>T c.(1414-1416)Cgc>Tgc p.R472C SLC9A8_uc010zym.1_Missense_Mutation_p.R172C|SLC9A8_uc010gic.3_Missense_Mutation_p.R172C|SLC9A8_uc010gid.3_Missense_Mutation_p.R96C NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA. 472 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) GCCCCTCATTCGCCTCATGGA 0.602000 115 105 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60765983 60765983 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:60765983G>A uc002jad.3 + 21 3585 c.3183G>A c.(3181-3183)ggG>ggA p.G1061G MRC2_uc002jae.3_Silent_p.G132G|MRC2_uc002jaf.3_Missense_Mutation_p.G7E NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 1061 C-type lectin 6. 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 GGGCACCTGGGGAGCCCTCTG 0.632000 71 59 0 0 1 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409602 19409602 + RNA SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:19409602C>T uc010tcj.1 - 0 c.36508G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TTATTTTTCTCTTCTAGCATG 0.313000 15 22 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312415 86312415 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:86312415C>T uc002bly.3 - 1 830 c.627G>A c.(625-627)gtG>gtA p.V209V KLHL25_uc021stw.1_Silent_p.V209V NM_022480 NP_071925 Q9H0H3 ENC2_HUMAN Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA. 209 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CCTCGAAGACCACCCGCTCGT 0.627000 30 38 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872077 51872077 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:51872077C>T uc002xwo.3 + 1 2967 c.2080C>T c.(2080-2082)Cca>Tca p.P694S TSHZ2_uc021wex.1_Missense_Mutation_p.P691S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 694 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ATGCATCAACCCACTCAGCGC 0.627000 34 38 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35044893 35044894 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:35044893_35044894GG>AA uc003zvw.3 + 1 2296_2297 c.2267_2268GG>AA c.(2266-2268)ggg>gAA p.G756E C9orf131_uc003zvu.3_Missense_Mutation_p.G708E|C9orf131_uc003zvv.3_Missense_Mutation_p.G683E|C9orf131_uc003zvx.3_Missense_Mutation_p.G721E NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 756 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) ACGTGCCCAGGGGTTAAGGCAG 0.579000 29 57 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124348535 124348535 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:124348535G>A uc001lgk.1 + 16 1965 c.1859G>A c.(1858-1860)cGa>cAa p.R620Q DMBT1_uc001lgl.1_Missense_Mutation_p.R610Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R620Q|DMBT1_uc021qag.1_Missense_Mutation_p.R610Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R620Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 620 SRCR 5. 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 Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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) GTCCTATACCGAGGCTCTTGG 0.592000 81 265 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146256482 146256482 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:146256482G>A uc003qlf.3 - 11 3064 c.2665C>T c.(2665-2667)Cct>Tct p.P889S SHPRH_uc003qle.3_Missense_Mutation_p.P889S|SHPRH_uc003qlg.1_Missense_Mutation_p.P445S|SHPRH_uc003qlj.1_Missense_Mutation_p.P778S|SHPRH_uc003qlh.3_5'Flank NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 889 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AGATGCTGAGGATTCTTCTTG 0.398000 12 47 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58314192 58314192 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:58314192A>C uc002enf.3 - 6 1519 c.1124T>G c.(1123-1125)tTg>tGg p.L375W PRSS54_uc002eng.3_Missense_Mutation_p.L375W|PRSS54_uc010vie.2_Missense_Mutation_p.L276W|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN Homo sapiens protease, serine, 54 (PRSS54), mRNA. 375 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGGCTGATACAACCTGTTCTG 0.478000 70 44 0 0 1 0 0 STAT6 6778 broad.mit.edu 37 12 57501992 57501992 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:57501992G>A uc009zpg.3 - 1 219 c.217C>T c.(217-219)Caa>Taa p.Q73* STAT6_uc009zpe.3_Nonsense_Mutation_p.Q24*|STAT6_uc001sna.3_Nonsense_Mutation_p.Q24*|STAT6_uc009zpf.3_Nonsense_Mutation_p.Q24*|STAT6_uc010srb.2_Intron|STAT6_uc010src.2_5'UTR|STAT6_uc010srd.2_Intron NM_001178081 NP_001171552 P42226 STAT6_HUMAN Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA. 24 regulation of transcription from RNA polymerase II promoter cytosol|nucleus DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CGCAGGTGTTGGGGAAAGTCG 0.587000 29 17 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851836 14851836 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:14851836A>G uc010dlo.2 + 35 3716 c.3536A>G c.(3535-3537)cAt>cGt p.H1179R ANKRD30B_uc021uhy.1_Missense_Mutation_p.H1179R|ANKRD30B_uc010xal.1_Missense_Mutation_p.H321R NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 1264 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GAATCACACCATCCTAGACTG 0.413000 9 4 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1826952 1826952 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:1826952G>A uc002lua.4 - 1 1931 c.1836C>T c.(1834-1836)ccC>ccT p.P612P REXO1_uc010dsr.1_Silent_p.P566P NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA. 612 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) ACTCCTCCATGGGGTCGGAGT 0.682000 13 7 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524108 187524108 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:187524108C>T uc003izf.3 - 19 11619 c.11431G>A c.(11431-11433)Gag>Aag p.E3811K NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 3811 EGF-like 1. 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 TGTTTCTCCTCCCAGGGATCA 0.507000 HNSCC(5;0.00058) 95 67 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88652299 88652299 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:88652299G>A uc001xwm.3 - 6 1334 c.1212C>T c.(1210-1212)gtC>gtT p.V404V KCNK10_uc001xwn.3_Silent_p.V404V|KCNK10_uc001xwo.3_Silent_p.V399V NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 399 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GGGCAGCAAAGACAGAGCGCT 0.677000 97 51 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101336183 101336183 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:101336183G>A uc010svm.1 + 4 898 c.326G>A c.(325-327)gGa>gAa p.G109E ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G74E|ANO4_uc001thx.2_Missense_Mutation_p.G109E NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 109 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AAATCAAATGGACTTTACTTT 0.368000 HNSCC(74;0.22) 101 77 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592310 38592310 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:38592310C>T uc021wvo.1 - 26 5605 c.5553G>A c.(5551-5553)atG>atA p.M1851I SCN5A_uc021wvk.1_Missense_Mutation_p.M1818I|SCN5A_uc021wvl.1_Missense_Mutation_p.M1797I|SCN5A_uc021wvm.1_Missense_Mutation_p.M1833I|SCN5A_uc021wvn.1_Missense_Mutation_p.M1850I|SCN5A_uc021wvp.1_Missense_Mutation_p.M1851I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.M1663I|SCN5A_uc021wvi.1_Missense_Mutation_p.M1717I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1851 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) AGAGAATGTCCATGCAATGGA 0.567000 17 70 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73491222 73491222 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:73491222G>A uc001vjc.3 + 12 1953 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K PIBF1_uc001vjb.3_Missense_Mutation_p.E550K|PIBF1_uc010aep.3_Missense_Mutation_p.E9K NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA. 550 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AGTTGAAAATGAAGATGAGGC 0.308000 65 52 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47365968 47365968 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:47365968G>A uc001cqo.1 - 0 c.180C>T CYP4Z2P_uc009vyn.1_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. GGGGGTGCAGGAAACAGGTGC 0.488000 66 46 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532725 113532725 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:113532725C>T uc001tuk.1 + 5 1695 c.1359C>T c.(1357-1359)ctC>ctT p.L453L NM_004416 NP_004407 Q86Y01 DTX1_HUMAN Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA. 453 Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 TGCTGTGCCTCGTGGCCATGT 0.657000 64 49 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073069 15073069 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:15073069G>A uc002naa.1 - 4 687 c.680C>T c.(679-681)cCa>cTa p.P227L SLC1A6_uc010dzu.1_Missense_Mutation_p.P227L|SLC1A6_uc010xod.1_Missense_Mutation_p.P163L|SLC1A6_uc002nab.3_Missense_Mutation_p.P227L|SLC1A6_uc002nac.3_Missense_Mutation_p.P227L NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 227 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CACTGAGAATGGAGGAGGCAT 0.562000 125 81 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587126 55587126 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55587126T>C uc010rin.2 + 0 21 c.21T>C c.(19-21)aaT>aaC p.N7N NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CTGATAGAAATACAAGTGGGA 0.428000 41 27 0 0 1 0 0 IRF9 10379 broad.mit.edu 37 14 24632675 24632675 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:24632675C>T uc001wmq.3 + 3 1273 c.453C>T c.(451-453)aaC>aaT p.N151N RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Silent_p.N49N NM_006084 NP_006075 Q00978 IRF9_HUMAN Homo sapiens interferon regulatory factor 9 (IRF9), mRNA. 151 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) CCATGCAGAACTGCACACTCA 0.537000 98 88 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48156209 48156209 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:48156209C>T uc002xut.3 - 4 625 c.571G>A c.(571-573)Gaa>Aaa p.E191K PTGIS_uc010zyi.2_Missense_Mutation_p.E52K NM_000961 NP_000952 Q16647 PTGIS_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA. 191 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GCCTGGCTTTCATGGGTGCGT 0.637000 28 18 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101153891 101153891 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:101153891A>G uc003yjd.3 - 1 1327 c.591T>C c.(589-591)ttT>ttC p.F197F FBXO43_uc003yje.3_Silent_p.F163F|FBXO43_uc010mbp.2_Silent_p.F197F NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA. 197 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TTGCCCTGGAAAAACCTGAAG 0.323000 28 52 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085754 92085754 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:92085754C>T uc001pdj.4 + 0 493 c.476C>T c.(475-477)tCa>tTa p.S159L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 159 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCTTTGTTTTCACCCACAACA 0.413000 TCGA Ovarian(4;0.039) 55 43 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56325024 56325024 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:56325024C>T uc003pcy.4 - 82 15266 c.15158G>A c.(15157-15159)cGa>cAa p.R5053Q DST_uc003pcv.4_Missense_Mutation_p.R175Q|DST_uc003pcw.4_Missense_Mutation_p.R136Q|DST_uc003pcx.4_Missense_Mutation_p.R99Q NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 7452 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 Z disc|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 actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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) TCCTGGAAGTCGAAGCTTGCT 0.463000 95 26 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64699324 64699324 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:64699324C>T uc001obz.3 + 9 1393 c.1100C>T c.(1099-1101)tCc>tTc p.S367F PPP2R5B_uc001oby.3_Missense_Mutation_p.S367F NM_006244 NP_006235 Q15173 2A5B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA. 367 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CGCTGTGTTTCCAGCCCCCAT 0.552000 81 52 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148802030 148802030 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:148802030G>A uc003wfj.3 - 3 1066 c.933C>T c.(931-933)ttC>ttT p.F311F NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 311 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACTGCTGCACGAAGGCCCGGC 0.657000 51 30 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834906 61834907 + Missense_Mutation DNP GT AG AG TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:61834906_61834907GT>AG uc001jky.3 - 36 6070_6071 c.5732_5733AC>CT c.(5731-5733)gac>gCT p.D1911A ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1911 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 TCCGCATTAGGTCCTCTTTCAT 0.441000 9 9 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242271106 242271106 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:242271106T>C uc001hzn.2 - 8 1333 c.1106A>G c.(1105-1107)gAa>gGa p.E369G PLD5_uc021pll.1_Missense_Mutation_p.E277G|PLD5_uc001hzl.4_Missense_Mutation_p.E307G|PLD5_uc001hzm.4_Missense_Mutation_p.E161G|PLD5_uc001hzo.2_Missense_Mutation_p.E277G NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 369 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AACTAATGCTTCTCTTATTTT 0.343000 118 59 0 0 1 0 0 GKAP1 80318 broad.mit.edu 37 9 86357478 86357478 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:86357478T>C uc004amy.3 - 10 1438 c.942A>G c.(940-942)gaA>gaG p.E314E GKAP1_uc004amz.3_Silent_p.E263E NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA. 314 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 TACTTTGTGATTCATCAACTT 0.343000 16 74 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710852 14710852 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:14710852G>A uc010dzn.2 + 11 829 c.752G>A c.(751-753)cGa>cAa p.R251Q CLEC17A_uc010dzo.2_Missense_Mutation_p.R251Q|CLEC17A_uc002mzh.2_Missense_Mutation_p.R234Q|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron NM_001204118 NP_001191047 Q6ZS10 CL17A_HUMAN Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA. 251 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GACTGCCGCCGAATTACCTGT 0.552000 50 37 0 0 1 0 0 DDR1 780 broad.mit.edu 37 6 30866003 30866003 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:30866003C>T uc003nrv.3 + 14 2430 c.2388C>T c.(2386-2388)aaC>aaT p.N796N DDR1_uc010jse.3_Silent_p.N753N|DDR1_uc003nrq.3_Silent_p.N753N|DDR1_uc003nrr.3_Silent_p.N790N|DDR1_uc003nrs.3_Silent_p.N790N|DDR1_uc003nrt.3_Silent_p.N753N|DDR1_uc011dms.2_Silent_p.N771N|DDR1_uc003nru.3_Silent_p.N753N|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Silent_p.N644N|DDR1_uc003nrw.1_Silent_p.N525N NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 790 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) TGAGCCGGAACCTCTATGCTG 0.582000 94 34 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182845607 182845607 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:182845607C>T uc001gpr.3 + 17 2230 c.2055C>T c.(2053-2055)ccC>ccT p.P685P DHX9_uc001gps.3_Silent_p.P471P|DHX9_uc001gpt.3_5'Flank NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 685 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.L684L(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AGATTCTACCCCTGCATTCTC 0.393000 79 30 0 0 1 0 0 NAA30 122830 broad.mit.edu 37 14 57876124 57876124 + Nonsense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:57876124A>T uc001xcx.4 + 4 1133 c.979A>T c.(979-981)Aag>Tag p.K327* NAA30_uc010trk.2_Nonsense_Mutation_p.K69*|NAA30_uc010aow.3_Non-coding_Transcript NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA. 327 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 AATAACAAATAAGTCCGCTTT 0.289000 28 27 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126736492 126736492 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:126736492C>T uc003ejg.3 + 16 3501 c.3501C>T c.(3499-3501)tcC>tcT p.S1167S NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 1167 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.T1166T(1) 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) AGCCCAGCTCCCCACTCATCC 0.642000 246 200 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95679709 95679709 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:95679709G>A uc001yef.2 - 5 571 c.455C>T c.(454-456)cCa>cTa p.P152L NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA. 152 Actin-binding. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GCTGGAAGATGGAGAGTTTCT 0.557000 63 40 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228479832 228479832 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:228479832G>A uc009xez.1 + 38 10617 c.10573G>A c.(10573-10575)Gag>Aag p.E3525K OBSCN_uc001hsn.3_Missense_Mutation_p.E3525K|OBSCN_uc001hsq.1_Missense_Mutation_p.E781K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3525 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTGCGGGCAGGAGAGGACCTC 0.592000 125 146 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126207067 126207067 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:126207067G>A uc010hsi.2 - 18 1998 c.1944C>T c.(1942-1944)gcC>gcT p.A648A UROC1_uc003eiz.2_Silent_p.A588A NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 588 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CGTTGTGAAGGGCGACCCAGG 0.612000 202 117 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161928361 161928361 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:161928361C>T uc001gbs.3 + 15 2047 c.1930C>T c.(1930-1932)Caa>Taa p.Q644* NM_007348 NP_031374 P18850 ATF6A_HUMAN Homo sapiens activating transcription factor 6 (ATF6), mRNA. 644 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GCAGAGGAATCAAACCAACAC 0.517000 132 91 0 0 1 0 0 LOC650368 650368 broad.mit.edu 37 11 3427737 3427737 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:3427737G>A uc010qxs.1 + 8 c.730G>A LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. AGGGTCGGTGGATCTGGGTGT 0.617000 49 36 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30961275 30961275 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:30961275C>T uc002yno.1 - 10 1917 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K GRIK1_uc002ynn.3_Missense_Mutation_p.E470K|GRIK1_uc011acs.2_Missense_Mutation_p.E485K|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.E328K NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 485 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTTGACAATTCTTTCAACAGG 0.393000 110 71 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119957972 119957972 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:119957972G>A uc001txe.3 + 8 1480 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 339 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TGCTTATAAGGAAATGCAGAC 0.483000 145 115 0 0 1 0 0 RGS16 6004 broad.mit.edu 37 1 182569515 182569515 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:182569515G>A uc001gpl.4 - 4 675 c.521C>T c.(520-522)tCg>tTg p.S174L NM_002928 NP_002919 O15492 RGS16_HUMAN Homo sapiens regulator of G-protein signaling 16 (RGS16), mRNA. 174 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane GTPase activator activity|calmodulin binding|signal transducer activity p.K173K(1) NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1) 11 GTAAGCAGGCGACTTCAGGAA 0.617000 88 95 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72366762 72366762 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:72366762T>G uc021ucp.1 + 2 461 c.452T>G c.(451-453)gTg>gGg p.V151G GPR142_uc010wqy.2_Missense_Mutation_p.V154G NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 154 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.R150T(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 TCCCCGTGTGTGGCTGGCGTC 0.647000 77 56 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27226198 27226198 + Splice_Site SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:27226198T>G uc010vcn.1 + 4 898 c.780_splice c.e4-1 p.S260_splice KDM8_uc002doh.2_Splice_Site_p.S222_splice|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Splice_Site NM_001145348 NP_079049 Q8N371 KDM8_HUMAN Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA. 222 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen TTCTGCTAGTTTGGAGTATAT 0.498000 119 91 0 0 1 0 0 KCTD5 54442 broad.mit.edu 37 16 2757318 2757318 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:2757318C>T uc002crd.3 + 5 750 c.695C>T c.(694-696)tCa>tTa p.S232L NM_018992 NP_061865 Q9NXV2 KCTD5_HUMAN Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA. 232 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 GAACGAGGCTCAAGGATGTGA 0.473000 60 40 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100547999 100547999 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:100547999G>A uc004ehb.3 - 0 61 c.35C>T c.(34-36)tCa>tTa p.S12L TAF7L_uc004ehc.2_5'Flank NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 12 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 ATCATTTTCTGAAGAAATGGG 0.498000 352 267 0 0 1 0 0 DEFB112 245915 broad.mit.edu 37 6 50016259 50016259 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:50016259T>A uc011dws.2 - 0 106 c.106A>T c.(106-108)Atc>Ttc p.I36F NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN Homo sapiens defensin, beta 112 (DEFB112), mRNA. 36 defense response to bacterium extracellular region p.I36I(2) central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) CCTGTGCTGATTTTCTCTGTC 0.313000 92 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179446457 179446457 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:179446457G>C uc021vsy.1 - 264 59059 c.58834C>G c.(58834-58836)Cca>Gca p.P19612A MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13307A|TTN_uc021vta.1_Missense_Mutation_p.P13240A|TTN_uc021vtb.1_Missense_Mutation_p.P13115A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 20539 Ig-like 109. 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) TCATAGGCTGGCTTGCCCCAA 0.473000 11 8 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058264 56058264 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:56058264G>A uc010rje.2 - 0 275 c.275C>T c.(274-276)tCc>tTc p.S92F NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GCCCATGAAGGAAATATAGTT 0.398000 271 157 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107084267 107084268 + Missense_Mutation DNP GA AC AC TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:107084267_107084268GA>AC uc004enl.3 + 1 945_946 c.372_373GA>AC c.(370-375)aggact>agACct p.T125P MID2_uc004enk.3_Missense_Mutation_p.T125P NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN Homo sapiens midline 2 (MID2), transcript variant 1, mRNA. 125 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GCCGGGAAAGGACTTACAGGCC 0.530000 65 31 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20711659 20711659 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:20711659C>T uc010tld.2 + 0 709 c.709C>T c.(709-711)Cag>Tag p.Q237* NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA. 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) AGCTGTTTTTCAGGTCCCTTC 0.408000 255 150 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345100 5345100 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:5345100C>T uc001mao.1 - 0 483 c.428G>A c.(427-429)gGa>gAa p.G143E HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G143L(2)|p.G143V(2)|p.G143*(1)|p.G143R(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTCCCACTCCTAACGCTAT 0.413000 101 84 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56619270 56619270 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:56619270G>A uc002iwq.2 - 1 1805 c.1619C>T c.(1618-1620)tCc>tTc p.S540F SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA. 540 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCATAGGAGGGAAAAGCACAG 0.493000 81 49 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154146664 154146664 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:154146664T>G uc003faa.3 - 0 841 c.741A>C c.(739-741)agA>agC p.R247S NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 247 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) GGGAAACCACTCTCCCCGCAG 0.642000 39 31 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350389 100350389 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:100350389C>T uc003uwj.3 + 13 2826 c.2661C>T c.(2659-2661)atC>atT p.I887I ZAN_uc003uwk.3_Silent_p.I887I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 887 66 X heptapeptide repeats (approximate) (mucin-like domain). 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) AACCCACCATCCCCATTGAAG 0.502000 23 53 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52473848 52473848 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:52473848G>A uc002egw.2 - 6 1191 c.1020C>T c.(1018-1020)atC>atT p.I340I TOX3_uc010vgt.1_Silent_p.I335I NM_001080430 NP_001073899 O15405 TOX3_HUMAN Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA. 340 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity p.I340I(2)|p.I335I(1) NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GAACAGAACGGATGGTCTGGG 0.453000 42 31 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31350959 31350959 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:31350959C>T uc002hht.3 - 5 2142 c.1269G>A c.(1267-1269)gaG>gaA p.E423E ASIC2_uc002hhu.3_Silent_p.E372E NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 372 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCATGGAGAGCTCTTTGTTGT 0.473000 109 85 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190289 50190289 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:50190289G>A uc009zlk.2 - 7 1556 c.1354C>T c.(1354-1356)Cca>Tca p.P452S NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Missense_Mutation_p.P45S NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 448 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CCCCTAGCTGGAGAGGGCAGA 0.632000 17 12 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38816460 38816460 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:38816460C>T uc002hvc.2 - 3 291 c.226_splice c.e3-1 p.E76_splice KRT222_uc002hvb.2_Splice_Site_p.E36_splice|KRT222_uc010cxc.3_Splice_Site_p.E36_splice NM_152349 NP_689562 Q8N1A0 KT222_HUMAN Homo sapiens keratin 222 (KRT222), mRNA. 76 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 GGCCCCTTTCCTGTTTTATAT 0.383000 53 40 0 0 1 0 0 SRD5A1 6715 broad.mit.edu 37 5 6656243 6656243 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:6656243C>T uc003jdw.3 + 2 703 c.513C>T c.(511-513)atC>atT p.I171I SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Silent_p.I124I NM_001047 NP_001038 P18405 S5A1_HUMAN Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA. 171 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) CAGATCATATCCTAAGGAATC 0.373000 37 30 0 0 1 0 0 FLJ43860 389690 broad.mit.edu 37 8 142517231 142517231 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:142517231C>T uc003ywi.2 - 0 100 c.19G>A c.(19-21)Gaa>Aaa p.E7K NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 7 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TATGGCCTTTCAGAACACTGC 0.642000 68 9 0 0 1 0 0 LOC100288077 100288077 broad.mit.edu 37 11 102702784 102702784 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:102702784G>A uc001phh.1 + 5 c.1347G>A Homo sapiens Wilms tumor 1 associated protein pseudogene (LOC100288077), non-coding RNA. GAAGACAAACGGGAACAAGCC 0.493000 23 12 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193028435 193028435 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:193028435C>T uc011bsq.2 - 20 2517 c.2517G>A c.(2515-2517)caG>caA p.Q839Q NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 839 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACTTTAATTTCTGAAATTCTT 0.358000 54 51 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46601349 46601349 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:46601349G>A uc009zkj.1 - 6 1129 c.444C>T c.(442-444)ttC>ttT p.F148F SLC38A1_uc001rpb.3_Silent_p.F148F|SLC38A1_uc001rpc.3_Silent_p.F148F|SLC38A1_uc001rpd.3_Silent_p.F148F|SLC38A1_uc001rpe.3_Silent_p.F148F|SLC38A1_uc010slh.2_Silent_p.F121F|SLC38A1_uc001rpa.3_Silent_p.F148F NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 148 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CAAAGATTACGAACTTCCCTG 0.413000 110 53 0 0 1 0 0 CALML5 51806 broad.mit.edu 37 10 5541194 5541194 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:5541194G>A uc001iic.2 - 0 340 c.208C>T c.(208-210)Ctg>Ttg p.L70L NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN Homo sapiens calmodulin-like 5 (CALML5), mRNA. 70 EF-hand 2. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 GCCGCCGTCAGGAACTCCTGG 0.652000 31 31 0 0 1 0 0 ISOC2 79763 broad.mit.edu 37 19 55966703 55966703 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:55966703G>A uc002qla.3 - 3 565 c.391C>T c.(391-393)Cca>Tca p.P131S ISOC2_uc002qlb.3_Intron|ISOC2_uc002qlc.3_Intron NM_024710 NP_078986 Q96AB3 ISOC2_HUMAN Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 116 protein destabilization mitochondrion|nucleus catalytic activity|protein binding p.P131S(2)|p.Y130Y(1) endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) GTGTTCTGTGGGTAGAGAGAG 0.637000 37 11 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 305954 305954 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:305954G>A uc001qhz.3 - 11 1834 c.1170C>T c.(1168-1170)ttC>ttT p.F390F SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Silent_p.F390F|SLC6A12_uc001qib.3_Silent_p.F390F|SLC6A12_uc009zdh.2_Silent_p.F390F NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 390 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CCAGCCCTAGGAATATGAGCA 0.582000 103 83 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42914822 42914822 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:42914822C>T uc002otr.3 - 1 1333 c.1056G>A c.(1054-1056)ctG>ctA p.L352L AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.L97L NM_005357 NP_005348 Q05469 LIPS_HUMAN Homo sapiens lipase, hormone-sensitive (LIPE), mRNA. 352 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GCAGGCGGCCCAGGGCCGGCT 0.692000 8 10 0 0 1 0 0 PRSS41 360226 broad.mit.edu 37 16 2854974 2854974 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:2854974C>T uc010uwi.2 + 4 798 c.798C>T c.(796-798)atC>atT p.I266I NM_001135086 NP_001128558 Q7RTY9 PRS41_HUMAN Homo sapiens protease, serine, 41 (PRSS41), mRNA. 266 Peptidase S1. proteolysis anchored to membrane|plasma membrane serine-type endopeptidase activity AGGTTGGAATCGTGAGCTGGG 0.582000 9 9 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912097 150912097 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:150912097G>A uc004fey.1 + 6 1346 c.1122G>A c.(1120-1122)atG>atA p.M374I NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 374 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity p.M374I(2) breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TGGGCTCCATGATCTCCAACA 0.517000 125 75 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197172778 197172778 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:197172778C>T uc002utm.1 - 10 2649 c.2466G>A c.(2464-2466)agG>agA p.R822R HECW2_uc002utl.1_Silent_p.R466R NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 822 Interaction with TP73.|WW 1. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CGTAGAAGATCCTGCCGTGGC 0.532000 30 22 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151786028 151786028 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:151786028G>A uc001ezh.3 - 6 1110 c.1002C>T c.(1000-1002)ttC>ttT p.F334F RORC_uc001ezg.3_Silent_p.F313F|RORC_uc010pdo.2_Silent_p.F388F|RORC_uc010pdp.2_Silent_p.F334F NM_005060 NP_005051 P51449 RORG_HUMAN Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA. 334 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.E333E(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCTCTTGGCGAACTCCACCA 0.612000 50 50 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50985602 50985602 + Splice_Site SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:50985602G>A uc002lfe.2 + 24 4009 c.3393_splice c.e24-1 p.K1131_splice DCC_uc010dpf.2_Splice_Site_p.K766_splice NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1131 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGTTCCATAGGAAACGGGCCA 0.443000 26 21 0 0 1 0 0 MPP1 4354 broad.mit.edu 37 X 154018294 154018294 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:154018294C>T uc004fmp.2 - 4 569 c.415G>A c.(415-417)Gaa>Aaa p.E139K MPP1_uc011mzv.2_Missense_Mutation_p.E109K|MPP1_uc010nvg.2_Missense_Mutation_p.E139K|MPP1_uc011mzw.2_Missense_Mutation_p.E122K|MPP1_uc010nvh.2_Intron NM_002436 NP_002427 Q00013 EM55_HUMAN Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA. 139 PDZ. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCTTTGGTTTCTTTCTATTAA 0.378000 35 18 0 0 1 0 0 PIM2 11040 broad.mit.edu 37 X 48771524 48771524 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:48771524G>A uc004dls.3 - 5 1122 c.820C>T c.(820-822)Cga>Tga p.R274* SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN Homo sapiens pim-2 oncogene (PIM2), mRNA. 274 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus ATP binding|protein serine/threonine kinase activity p.R274fs*>38(2) lung(3)|stomach(1) 4 AGTGAGGGTCGGGAAGAAGGT 0.602000 19 12 0 0 1 0 0 MGAT2 4247 broad.mit.edu 37 14 50088228 50088228 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:50088228A>G uc001wwr.3 + 0 740 c.242A>G c.(241-243)cAg>cGg p.Q81R NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank|RPL36AL_uc021rsq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA. 81 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) GCGGTCCCCCAGCCCGAGGCG 0.687000 52 37 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067089 18067089 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:18067089G>A uc003stz.3 - 0 398 c.317C>T c.(316-318)cCa>cTa p.P106L NM_175886 NP_787082 P21108 PRPS3_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA. 106 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GGCAGAGATTGGGGACCGGCT 0.463000 104 66 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72435915 72435915 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:72435915G>A uc002jkp.3 + 1 646 c.135G>A c.(133-135)agG>agA p.R45R GPRC5C_uc002jkq.3_Silent_p.R45R|GPRC5C_uc002jkr.3_Silent_p.R12R|GPRC5C_uc002jkt.3_5'UTR NM_022036 NP_071319 Q9NQ84 GPC5C_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA. 206 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TGGGAGCCAGGATGGCCATCC 0.582000 53 38 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905569 54905569 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:54905569G>A uc003dhf.3 + 17 1678 c.1630G>A c.(1630-1632)Gaa>Aaa p.E544K CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E450K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E278K NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 544 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTGCTAGTACGAAGAAGGAAA 0.443000 12 29 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72956643 72956643 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:72956643G>A uc001sxa.3 + 8 1760 c.1730G>A c.(1729-1731)aGa>aAa p.R577K NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 577 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 GCTTTAAAAAGAAATGGGAAA 0.284000 69 47 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023351 52023351 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:52023351G>A uc002pwy.3 - 7 1555 c.1347C>T c.(1345-1347)atC>atT p.I449I SIGLEC6_uc002pwz.3_Silent_p.I433I|SIGLEC6_uc010ydb.2_Silent_p.I397I|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 449 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) TGTGTATCTTGATTTCTGAGT 0.478000 107 62 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73518830 73518830 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:73518830C>T uc010yrj.2 - 1 1600 c.1525G>A c.(1525-1527)Ggc>Agc p.G509S EGR4_uc010yrk.1_Missense_Mutation_p.G508S NM_001965 NP_001956 B7ZKU3 B7ZKU3_HUMAN Homo sapiens early growth response 4 (EGR4), mRNA. 405 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGTTTGTGGCCCGTGTGGATG 0.672000 77 31 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9632212 9632212 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:9632212C>T uc010cod.3 + 14 3277 c.3277C>T c.(3277-3279)Cca>Tca p.P1093S USP43_uc002gma.4_Missense_Mutation_p.P782S|USP43_uc010vva.2_Missense_Mutation_p.P1088S|USP43_uc010coe.3_Missense_Mutation_p.P890S|USP43_uc002gmc.4_Missense_Mutation_p.P605S NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 1093 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 AAGGACTGTTCCAGGGGAGCA 0.547000 74 51 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104211 53104211 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:53104211T>G uc003tpz.3 + 0 863 c.847T>G c.(847-849)Ttc>Gtc p.F283V NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 283 p.F283L(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TAGGGTCTCCTTCGCCCTCGA 0.622000 63 39 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97334297 97334297 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:97334297T>C uc001tew.3 + 8 1395 c.1249T>C c.(1249-1251)Ttc>Ctc p.F417L NEDD1_uc001teu.4_Missense_Mutation_p.F410L|NEDD1_uc001tev.4_Missense_Mutation_p.F410L|NEDD1_uc010svc.2_Missense_Mutation_p.F321L|NEDD1_uc001tex.3_Missense_Mutation_p.F321L NM_001135175 NP_001128649 Q8NHV4 NEDD1_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA. 410 G2/M transition of mitotic cell cycle|cell division|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 AGGTGACATGTTCTCACCTAT 0.368000 69 64 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762210 130762210 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:130762210G>A uc003qcb.3 + 1 3021 c.643G>A c.(643-645)Ggt>Agt p.G215S TMEM200A_uc003qca.3_Missense_Mutation_p.G215S|TMEM200A_uc010kfh.3_Missense_Mutation_p.G215S|TMEM200A_uc010kfi.3_Missense_Mutation_p.G215S|TMEM200A_uc021zfg.1_Missense_Mutation_p.G215S NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 215 integral to membrane p.S214S(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTCTTTCTCGGGTTTTCGGAG 0.483000 5 16 0 0 1 0 0 CLCA3P 9629 broad.mit.edu 37 1 87104641 87104641 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:87104641G>A uc010osh.2 + 4 c.676G>A Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA. endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 AGGGCTGTATGAAGCAAAATG 0.413000 66 48 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132425303 132425303 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:132425303C>T uc003kyj.3 + 10 1575 c.1294C>T c.(1294-1296)Ctt>Ttt p.L432F NM_002154 NP_002145 P34932 HSP74_HUMAN Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA. 432 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCTAAAGTTCTTACATTTTA 0.388000 27 20 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54566472 54566472 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:54566472A>G uc003jpx.3 - 18 3047 c.2927T>C c.(2926-2928)tTg>tCg p.L976S DHX29_uc010ivw.3_Non-coding_Transcript NM_019030 NP_061903 Q7Z478 DHX29_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA. 976 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) CTGGCGCTGCAAAGCACTGGC 0.433000 75 58 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166996032 166996032 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:166996032A>G uc003irh.2 + 16 2838 c.2191A>G c.(2191-2193)Aaa>Gaa p.K731E TLL1_uc011cjn.2_Missense_Mutation_p.K754E|TLL1_uc011cjo.2_Missense_Mutation_p.K555E NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 731 EGF-like 2; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.D730E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTGCTAGACAAAGATGAATG 0.403000 65 64 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 92979374 92979374 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:92979374G>A uc010otf.2 - 18 2315 c.2305C>T c.(2305-2307)Cct>Tct p.P769S EVI5_uc001dox.3_Missense_Mutation_p.P758S NM_005665 NP_005656 O60447 EVI5_HUMAN Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA. 758 Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle Rab GTPase activator activity|protein binding breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CCGTGCAAAGGAAAACCAACA 0.433000 67 50 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213914511 213914511 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:213914511G>A uc002vem.3 - 4 669 c.500C>T c.(499-501)cCg>cTg p.P167L IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.P114L|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.P141L|IKZF2_uc002vel.3_Missense_Mutation_p.P88L|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Missense_Mutation_p.P141L|IKZF2_uc002ven.3_Missense_Mutation_p.P141L NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ACATTTGAACGGCTTCTCTCC 0.502000 40 31 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4409052 4409052 + Silent SNP G A A rs149961693 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:4409052G>A uc001qmo.3 + 4 1052 c.747G>A c.(745-747)caG>caA p.Q249Q NM_001759 NP_001750 P30279 CCND2_HUMAN Homo sapiens cyclin D2 (CCND2), mRNA. 249 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 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) GCCAGGAGCAGATTGAGGCGG 0.527000 T IGL@ """NHL,CLL""" 62 61 0 0 1 0 0 USO1 8615 broad.mit.edu 37 4 76730143 76730143 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:76730143C>T uc003hiu.3 + 19 2436 c.2261C>T c.(2260-2262)tCt>tTt p.S754F USO1_uc003hiv.3_Missense_Mutation_p.S647F|USO1_uc003hiw.3_Missense_Mutation_p.S640F NM_003715 NP_003706 O60763 USO1_HUMAN Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA. 805 intracellular protein transport|vesicle fusion with Golgi apparatus Golgi membrane|cytosol protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AACTCACAATCTGTGGAGATC 0.323000 16 13 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140857391 140857391 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140857391C>T uc003lkv.2 + 0 1823 c.1708C>T c.(1708-1710)Cct>Tct p.P570S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.P570S|PCDHGC5_uc003lkw.2_Intron NM_002588 NP_002579 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA. 567 D -> G (in dbSNP:rs2074912). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCCTATATCCTCGGCCAGG 0.597000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 56 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219385019 219385019 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:219385019G>A uc001hlq.4 + 4 704 c.663G>A c.(661-663)ttG>ttA p.L221L LYPLAL1_uc001hlr.4_Silent_p.L205L|LYPLAL1_uc001hls.4_Silent_p.L97L|LYPLAL1_uc001hlt.4_Silent_p.L97L|LYPLAL1_uc009xds.3_Silent_p.L170L NM_138794 NP_620149 Q5VWZ2 LYPL1_HUMAN Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA. 221 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) TAGACATATTGAAGTTATGGA 0.328000 116 64 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182009 57182009 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:57182009G>A uc003hbk.2 + 7 2732 c.2341G>A c.(2341-2343)Gag>Aag p.E781K KIAA1211_uc010iha.2_Missense_Mutation_p.E774K|KIAA1211_uc011bzz.1_Missense_Mutation_p.E691K|KIAA1211_uc003hbm.1_Missense_Mutation_p.E667K NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 781 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) GATGCACCGGGAGCCCGCAGA 0.622000 71 53 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16296029 16296029 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:16296029G>A uc002den.4 - 8 1042 c.1005C>T c.(1003-1005)ttC>ttT p.F335F ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.F347F NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 335 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TAAACTCCAGGAAAAGGCTTG 0.567000 26 9 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31483602 31483602 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:31483602C>T uc002rnu.3 + 3 1337 c.729C>T c.(727-729)atC>atT p.I243I EHD3_uc010ymt.2_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 243 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TGGGGAAGATCGTGAACACCC 0.592000 43 39 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42788384 42788384 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:42788384T>G uc002xli.1 - 1 1916 c.1043A>C c.(1042-1044)aAg>aCg p.K348T NM_020433 NP_065166 Q9BR39 JPH2_HUMAN Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA. 348 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) CTTGGTGTCCTTGACCAGCAC 0.672000 53 40 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862256 23862256 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:23862256G>A uc001wjv.3 - 23 3187 c.3116C>T c.(3115-3117)tCc>tTc p.S1039F NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1039 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTGCTCTAGGGATCCCTCCAG 0.502000 45 57 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71130487 71130487 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:71130487G>A uc003tvy.3 + 6 1172 c.1172G>A c.(1171-1173)gGc>gAc p.G391D WBSCR17_uc003tvz.3_Missense_Mutation_p.G90D NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 391 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGCAACATTGGCTTCTACACC 0.537000 69 66 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77684109 77684109 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:77684109G>A uc011bgk.2 + 24 4504 c.3861G>A c.(3859-3861)caG>caA p.Q1287Q ROBO2_uc021xat.1_Silent_p.Q1299Q|ROBO2_uc003dpy.4_Silent_p.Q1283Q|ROBO2_uc003dpz.3_Silent_p.Q1348Q|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1283 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) GTCAAAGTCAGAGGCCTCGGC 0.493000 81 75 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316574 30316574 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:30316574A>G uc009xle.2 - 2 2640 c.2503T>C c.(2503-2505)Tta>Cta p.L835L KIAA1462_uc001iux.3_Silent_p.L835L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.L697L NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 835 p.Q834*(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AAACTTTCTAACTGACTGATC 0.557000 107 76 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781961 128781961 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:128781961G>A uc001qet.3 + 1 1107 c.793G>A c.(793-795)Gac>Aac p.D265N KCNJ5_uc009zck.3_Missense_Mutation_p.D265N|KCNJ5_uc001qew.3_Missense_Mutation_p.D265N NM_000890 NP_000881 P48544 IRK5_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA. 265 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TGACACGGGCGACGACCGCCT 0.572000 80 61 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183621060 183621060 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:183621060T>G uc002uow.1 + 17 2088 c.1673T>G c.(1672-1674)gTg>gGg p.V558G DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.V512G|DNAJC10_uc010fro.1_Non-coding_Transcript NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA. 558 Thioredoxin 3. ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AATCCTTCAGTGGTCTCCCTT 0.393000 106 59 0 0 1 0 0 EHF 26298 broad.mit.edu 37 11 34680128 34680128 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:34680128A>G uc021qfu.1 + 7 848 c.722A>G c.(721-723)aAc>aGc p.N241S EHF_uc001mvr.2_Missense_Mutation_p.N219S|EHF_uc009yke.2_Missense_Mutation_p.N196S|EHF_uc009ykf.2_Missense_Mutation_p.N222S NM_001206616 NP_001193545 Q9NZC4 EHF_HUMAN Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA. 219 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) ATCCTCTTGAACCCAGACAAG 0.463000 78 37 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161969922 161969922 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:161969922C>T uc010pkq.2 - 4 1357 c.933G>A c.(931-933)gaG>gaA p.E311E OLFML2B_uc001gbu.3_Silent_p.E310E NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA. 310 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CAATGTCATTCTCTTCTTCAG 0.602000 98 64 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52942943 52942943 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:52942943C>T uc002lga.3 - 10 1062 c.1002G>A c.(1000-1002)ggG>ggA p.G334G TCF4_uc021ukg.1_Silent_p.G72G|TCF4_uc021ukh.1_Silent_p.G72G|TCF4_uc002lfw.4_Silent_p.G72G|TCF4_uc010xdu.1_Silent_p.G102G|TCF4_uc010xdv.1_Silent_p.G102G|TCF4_uc021uki.1_Silent_p.G161G|TCF4_uc002lfx.2_Silent_p.G161G|TCF4_uc010xdw.1_Silent_p.G102G|TCF4_uc002lfy.2_Silent_p.G190G|TCF4_uc010xdx.1_Silent_p.G208G|TCF4_uc021ukj.1_Silent_p.G172G|TCF4_uc021ukk.1_Silent_p.G172G|TCF4_uc021ukl.1_Silent_p.G230G|TCF4_uc002lfz.2_Silent_p.G232G|TCF4_uc010dph.1_Silent_p.G232G|TCF4_uc010dpi.3_Silent_p.G238G|TCF4_uc010xdy.1_Silent_p.G208G|TCF4_uc002lgc.4_Silent_p.G153G|TCF4_uc021ukm.1_Missense_Mutation_p.G117E NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 232 P -> S (in Ref. 7; CAA36298). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GCTGATTCATCCCACTGGAGG 0.493000 233 156 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69030803 69030803 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:69030803G>A uc003xxv.1 + 26 3372 c.3345G>A c.(3343-3345)agG>agA p.R1115R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1115 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACAGCAATAGGAATTCCATCG 0.463000 217 80 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945843 55945843 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:55945843C>T uc010spp.2 + 0 833 c.833C>T c.(832-834)tCg>tTg p.S278L NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CTCATTACTTCGGTTACTCCC 0.368000 54 29 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141526604 141526604 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:141526604C>T uc011bnd.2 + 2 1252 c.1168C>T c.(1168-1170)Cca>Tca p.P390S NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA. 390 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TGGACGAACACCATTCAAAGA 0.433000 48 42 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20206023 20206023 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:20206023C>T uc004czu.3 - 8 697 c.697G>A c.(697-699)Gag>Aag p.E233K RPS6KA3_uc011mjk.2_Missense_Mutation_p.E204K|RPS6KA3_uc004czv.3_Missense_Mutation_p.E221K|RPS6KA3_uc011mjl.2_Missense_Mutation_p.E205K|RPS6KA3_uc011mjm.2_Missense_Mutation_p.E205K NM_004586 NP_004577 P51812 KS6A3_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA. 233 Protein kinase 1. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 GCCATATACTCCACAGTTCCA 0.373000 99 71 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30689321 30689321 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:30689321G>A uc002wxh.3 + 12 1817 c.1580G>A c.(1579-1581)tGa>tAa p.*527* HCK_uc010gdy.3_Silent_p.*507*|HCK_uc021wbv.1_Silent_p.*506*|HCK_uc002wxi.3_Silent_p.*505* NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 0 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CAGCAGCCATGATAGGGAGGA 0.627000 18 16 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44691164 44691164 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:44691164G>A uc002xrd.3 - 6 2043 c.1515C>T c.(1513-1515)tcC>tcT p.S505S NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Silent_p.S505S NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 505 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) AAAGCCCTTGGGAAGGAGCCC 0.547000 33 23 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1396133 1396133 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:1396133C>T uc001aft.2 + 9 1811 c.816C>T c.(814-816)ttC>ttT p.F272F NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA. 272 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCCGCAGATTCATGCTGATCC 0.652000 22 21 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87045039 87045039 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:87045039G>A uc009wcs.3 + 12 2169 c.2125G>A c.(2125-2127)Gaa>Aaa p.E709K CLCA4_uc009wct.3_Missense_Mutation_p.E472K|CLCA4_uc009wcu.3_Missense_Mutation_p.E529K NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA. 709 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity p.G708R(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TAATGCAGGGGAAATTGAAGC 0.403000 39 30 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24879077 24879077 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:24879077A>G uc001wpf.4 + 3 2395 c.2077A>G c.(2077-2079)Acc>Gcc p.T693A NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 693 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGCAGGGCCAACCTTGGATGT 0.587000 15 8 0 0 1 0 0 F2RL3 9002 broad.mit.edu 37 19 17000949 17000949 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:17000949C>T uc002nfa.3 + 1 850 c.675C>T c.(673-675)cgC>cgT p.R225R NM_003950 NP_003941 Q96RI0 PAR4_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA. 225 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCTCCGATCGCGTGCTCTGCC 0.697000 19 11 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880679 200880679 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:200880679T>C uc001gvo.3 + 8 1355 c.1313T>C c.(1312-1314)tTt>tCt p.F438S C1orf106_uc010ppm.2_Missense_Mutation_p.F353S NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 438 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GATTCCTGCTTTCCCGCGACC 0.687000 240 354 0 0 1 0 0 SCAMP4 113178 broad.mit.edu 37 19 1918277 1918277 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:1918277C>T uc002luj.3 + 3 395 c.288C>T c.(286-288)gcC>gcT p.A96A SCAMP4_uc002lui.1_Silent_p.A96A|SCAMP4_uc002luk.3_Silent_p.A96A|SCAMP4_uc010dss.3_Silent_p.A52A NM_079834 NP_524558 Q969E2 SCAM4_HUMAN Homo sapiens secretory carrier membrane protein 4 (SCAMP4), mRNA. 96 protein transport integral to membrane Ovarian(11;2.11e-07)|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) TCTACAAGGCCTTCCGGTGAG 0.672000 11 16 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51219352 51219352 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:51219352G>C uc001wyi.3 - 20 5025 c.4834C>G c.(4834-4836)Caa>Gaa p.Q1612E NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.Q1612E|NIN_uc001wyk.3_Missense_Mutation_p.Q899E|NIN_uc001wyo.3_Missense_Mutation_p.Q1612E NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 1612 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding p.E1611*(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GTTAGACGTTGATTAAGTTCT 0.363000 T PDGFRB MPD 386 11 0 0 1 0 0 HIST4H4 121504 broad.mit.edu 37 12 14923946 14923946 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:14923946C>T uc001rcf.4 - 0 120 c.73G>A c.(73-75)Gac>Aac p.D25N HIST4H4_uc001rce.3_Non-coding_Transcript NM_175054 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA. 25 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2) 6 TGGATATTGTCCCGCAGCACC 0.607000 OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 44 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75799851 75799851 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:75799851C>T uc021zbv.1 - 61 8951 c.8916G>A c.(8914-8916)ggG>ggA p.G2972G COL12A1_uc021zbw.1_Silent_p.G1808G|COL12A1_uc003phs.3_Silent_p.G2972G|COL12A1_uc003pht.3_Silent_p.G1808G NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 2972 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.P2971A(1) 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 GTCCCTGCATCCCTGGTGTGC 0.627000 127 76 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635679 141635679 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:141635679C>T uc003vwv.1 - 4 477 c.280G>A c.(280-282)Gaa>Aaa p.E94K CLEC5A_uc011krm.1_Missense_Mutation_p.E71K|CLEC5A_uc003vww.1_Missense_Mutation_p.E94K|CLEC5A_uc010lnq.1_Missense_Mutation_p.E71K|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 94 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TCCCTGCTTTCATTCCAAGAT 0.428000 72 43 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109087301 109087302 + Missense_Mutation DNP GA TT TT TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:109087301_109087302GA>TT uc002tec.3 + 5 1670_1671 c.1516_1517GA>TT c.(1516-1518)gaa>TTa p.E506L GCC2_uc002ted.3_Missense_Mutation_p.E405L NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA. 506 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TCAAGAGTTCGAATCAATGAAG 0.381000 100 70 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108921046 108921046 + Missense_Mutation SNP G A A rs139416622 byFrequency TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:108921046G>A uc002tdy.3 + 4 845 c.392G>A c.(391-393)cGa>cAa p.R131Q SULT1C2_uc010ywp.1_Missense_Mutation_p.R46Q|SULT1C2_uc010ywq.2_Missense_Mutation_p.R145Q|SULT1C2_uc002tdx.3_Missense_Mutation_p.R142Q NM_001056 NP_001047 O00338 ST1C2_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA. 131 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TATGTAGCTCGAAATGCCAAA 0.438000 148 91 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117884788 117884788 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:117884788C>T uc001lcj.3 - 5 1412 c.714G>A c.(712-714)agG>agA p.R238R GFRA1_uc001lci.3_Silent_p.R233R|GFRA1_uc009xyr.3_Silent_p.R233R NM_005264 NP_005255 P56159 GFRA1_HUMAN Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA. 238 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) TGGGCTTCTCCCTCTCTTCAT 0.547000 14 46 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55444986 55444986 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:55444986A>T uc002qih.4 - 7 2669 c.2593T>A c.(2593-2595)Ttt>Att p.F865I NLRP7_uc010esk.3_Missense_Mutation_p.F865I|NLRP7_uc002qig.4_Missense_Mutation_p.F837I|NLRP7_uc002qii.4_Missense_Mutation_p.F865I|NLRP7_uc010esl.3_Missense_Mutation_p.F893I NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 865 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCACACAGAAACTTCACCCCT 0.512000 54 47 0 0 1 0 0 CERS1 10715 broad.mit.edu 37 19 18991213 18991213 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:18991213G>A uc002nki.1 - 3 694 c.622C>T c.(622-624)Ctg>Ttg p.L208L CERS1_uc002nkj.3_Silent_p.L208L|CERS1_uc010ebx.3_Silent_p.L110L NM_021267 NP_067090 P27544 CERS1_HUMAN Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA. 208 TLC. ceramide biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 ATATCGTGCAGGAAGAGCACA 0.582000 8 12 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145558498 145558498 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:145558498G>A uc001eob.1 + 5 547 c.439G>A c.(439-441)Gac>Aac p.D147N ANKRD35_uc010oyx.1_5'UTR NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 147 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGCCTTCCTGGACGTGTTGGA 0.547000 107 79 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133070863 133070863 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:133070863C>T uc003qdt.3 - 5 1353 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K VNN2_uc003qds.3_Missense_Mutation_p.E157K|VNN2_uc010kgb.3_Missense_Mutation_p.E227K|VNN2_uc003qdv.3_Missense_Mutation_p.E395K NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 448 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity p.E448K(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) AGATGAATTTCGGTAAGTAGC 0.373000 8 46 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22852823 22852823 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:22852823C>T uc001bft.2 + 18 4165 c.3654C>T c.(3652-3654)ctC>ctT p.L1218L ZBTB40_uc001bfu.2_Silent_p.L1218L|ZBTB40_uc009vqi.1_Silent_p.L1106L NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 1218 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GCTCTGAGCTCGTGGCGGTGA 0.582000 163 105 0 0 1 0 0 NANOS2 339345 broad.mit.edu 37 19 46417689 46417689 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:46417689A>C uc002pdu.3 - 0 348 c.263T>G c.(262-264)gTg>gGg p.V88G NM_001029861 NP_001025032 P60321 NANO2_HUMAN Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA. 88 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) GGGACACACCACCACGCCATC 0.647000 70 48 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599238 22599238 + Missense_Mutation SNP C T T rs146019843 byFrequency TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:22599238C>T uc002zvx.1 + 0 39 c.13C>T c.(13-15)Cct>Tct p.P5S abParts_uc021wml.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA. 5 immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) GTCCTGGGCTCCTGTCCTGCT 0.632000 15 90 0 0 1 0 0 KITLG 4254 broad.mit.edu 37 12 88926235 88926235 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:88926235G>A uc001tav.3 - 2 370 c.175C>T c.(175-177)Ccc>Tcc p.P59S KITLG_uc001taw.3_Missense_Mutation_p.P59S|KITLG_uc009zso.1_Non-coding_Transcript NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 59 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding p.P59P(1) kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 TCCATCCCGGGGACATATTTG 0.328000 Testicular Cancer, Familial Clustering of 107 91 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40646759 40646759 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:40646759C>T uc001rmg.4 + 10 1350 c.1229C>T c.(1228-1230)tCa>tTa p.S410L LRRK2_uc001rmh.1_Missense_Mutation_p.S32L NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 410 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 p.S409F(1) 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) ATGCATTCTTCATCAAAGGAA 0.363000 57 33 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806560 54806560 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:54806560C>T uc003pck.3 + 4 2907 c.2791C>T c.(2791-2793)Cgg>Tgg p.R931W NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 931 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) TTCAACTGATCGGCGTGTTTA 0.428000 122 40 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920574 51920574 + Silent SNP G A A rs142646348 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:51920574G>A uc002pwo.3 - 1 405 c.183C>T c.(181-183)ttC>ttT p.F61F SIGLEC10_uc002pwp.3_Silent_p.F61F|SIGLEC10_uc021uyl.1_Silent_p.F61F|SIGLEC10_uc002pwq.3_Silent_p.F61F|SIGLEC10_uc010ycz.2_Silent_p.F61F|SIGLEC10_uc002pws.2_Silent_p.F61F|SIGLEC10_uc002pwr.3_Silent_p.F61F|SIGLEC10_uc010ycy.2_Silent_p.F61F|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 61 Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TCACTGCTTTGAACCAGTAGC 0.597000 70 57 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51487844 51487844 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:51487844G>A uc004dpl.3 + 0 1364 c.1122G>A c.(1120-1122)ttG>ttA p.L374L NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA. 374 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) TGCCCTTTTTGAAAAAAGTAG 0.378000 33 27 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91766381 91766381 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:91766381C>T uc010aty.3 - 20 3823 c.3669G>A c.(3667-3669)ctG>ctA p.L1223L NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1223 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CCCGCTCCTCCAGCTCCGCCT 0.637000 23 12 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31471028 31471028 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:31471028C>T uc010vfn.2 + 2 592 c.468C>T c.(466-468)ttC>ttT p.F156F ARMC5_uc010vfo.2_Silent_p.F93F|ARMC5_uc002ecc.3_Silent_p.F61F|ARMC5_uc002eca.4_Silent_p.F61F|ARMC5_uc002ecb.2_Silent_p.F61F|ARMC5_uc010vfp.2_Silent_p.F61F NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA. 61 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TCGAGCGCTTCCGGGCACGCG 0.746000 15 18 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 74004223 74004223 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:74004223G>A uc003uaq.3 + 22 2802 c.2409G>A c.(2407-2409)cgG>cgA p.R803R GTF2IRD1_uc010lbq.3_Silent_p.R820R|GTF2IRD1_uc003uap.3_Silent_p.R788R|GTF2IRD1_uc003uar.1_Silent_p.R788R NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 803 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGATCCTGCGGGAGCAGGTGA 0.597000 55 32 0 0 1 0 0 SLC25A28 81894 broad.mit.edu 37 10 101370912 101370912 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:101370912G>A uc001kpx.2 - 3 918 c.789C>T c.(787-789)tcC>tcT p.S263S SLC25A28_uc021pwy.1_Silent_p.S75S|SLC25A28_uc021pwz.1_Silent_p.S108S|SLC25A28_uc001kpy.2_Silent_p.S76S NM_031212 NP_112489 Q96A46 MFRN2_HUMAN Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA. 263 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) AGAGGACGTGGGAGCTTGGGT 0.552000 10 35 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158151329 158151329 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:158151329G>A uc001frr.3 + 2 645 c.146G>A c.(145-147)tGg>tAg p.W49* CD1D_uc009wsr.1_Nonsense_Mutation_p.W49*|CD1D_uc009wss.3_Nonsense_Mutation_p.W49*|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 49 T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGCTTGGCGTGGCTGGGGGAG 0.642000 193 155 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104511147 104511147 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:104511147G>A uc003hxe.1 - 4 1231 c.1090C>T c.(1090-1092)Cga>Tga p.R364* NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 364 integral to plasma membrane tachykinin receptor activity p.R364Q(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AAGCCAGCTCGAAATCTGAGG 0.428000 22 7 0 0 1 0 0 MORN3 283385 broad.mit.edu 37 12 122092264 122092264 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:122092264C>T uc001uax.3 - 2 550 c.379G>A c.(379-381)Ggc>Agc p.G127S MORN3_uc001uay.3_Non-coding_Transcript NM_173855 NP_776254 Q6PF18 MORN3_HUMAN Homo sapiens MORN repeat containing 3 (MORN3), mRNA. 127 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) TACATGCGGCCCCACCCGCTG 0.582000 14 8 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916222 149916222 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:149916222G>A uc001etn.3 - 11 2422 c.2066C>T c.(2065-2067)tCc>tTc p.S689F NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN Homo sapiens OTU domain containing 7B (OTUD7B), mRNA. 689 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GTAGCCAGTGGAAAATGCCAT 0.642000 99 79 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13607758 13607758 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:13607758G>A uc004cvj.3 + 1 445 c.158G>A c.(157-159)tGg>tAg p.W53* EGFL6_uc004cvi.3_Nonsense_Mutation_p.W53*|EGFL6_uc011mik.1_5'UTR NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 53 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TGCTACGGCTGGAGAAGAAAC 0.483000 90 85 0 0 1 0 0 PSMG1 8624 broad.mit.edu 37 21 40551856 40551856 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:40551856C>T uc002yxi.3 - 3 579 c.450G>A c.(448-450)ctG>ctA p.L150L PSMG1_uc002yxj.3_Intron|PSMG1_uc010gob.3_Silent_p.L63L NM_003720 NP_003711 O95456 PSMG1_HUMAN Homo sapiens proteasome (prosome, macropain) assembly chaperone 1 (PSMG1), transcript variant 1, mRNA. 150 proteasome assembly endoplasmic reticulum protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) TTACCTTTTCCAGCCACTGAT 0.368000 46 26 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866308 131866308 + Missense_Mutation SNP C G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:131866308C>G uc003vra.4 - 17 3553 c.3324G>C c.(3322-3324)caG>caC p.Q1108H NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1108 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCAGGTCTGACTGGTGGTCAG 0.577000 60 68 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38225581 38225581 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:38225581C>T uc010abx.3 - 7 2135 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K TRPC4_uc010abv.3_Missense_Mutation_p.E214K|TRPC4_uc001uwt.3_Missense_Mutation_p.E634K|TRPC4_uc001uws.3_Missense_Mutation_p.E634K|TRPC4_uc010tey.2_Missense_Mutation_p.E634K|TRPC4_uc010abw.3_Missense_Mutation_p.E461K|TRPC4_uc010aby.3_Intron NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 634 Binds to ITPR1, ITPR2 and ITPR3. 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) AATTTCCATTCTATATCTGCA 0.423000 102 50 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32074117 32074117 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:32074117G>A uc003jhl.3 + 17 3293 c.2905G>A c.(2905-2907)Gat>Aat p.D969N PDZD2_uc003jhm.3_Missense_Mutation_p.D969N|PDZD2_uc011cnx.1_Missense_Mutation_p.D795N NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 969 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 CGATGCCAACGATGCCAGTGA 0.612000 54 30 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236157083 236157083 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:236157083G>A uc001hxo.3 - 12 2719 c.2617C>T c.(2617-2619)Ctg>Ttg p.L873L NID1_uc009xgd.3_Silent_p.L740L|NID1_uc009xgc.3_5'UTR NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 873 Thyroglobulin type-1. cell-matrix adhesion basement membrane calcium ion binding p.G872R(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GGAACGAACAGCCCCGGAGGA 0.662000 42 56 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102307302 102307302 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:102307302G>A uc003pqp.4 + 9 1751 c.1458G>A c.(1456-1458)ggG>ggA p.G486G GRIK2_uc003pqn.3_Silent_p.G486G|GRIK2_uc010kcw.3_Silent_p.G486G|GRIK2_uc003pqo.4_Silent_p.G486G|GRIK2_uc021zdk.1_Silent_p.G486G|GRIK2_uc021zdl.1_Non-coding_Transcript NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 486 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGGAAGATGGGAAATATGGAG 0.383000 24 48 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3255167 3255167 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:3255167G>A uc010uwu.2 + 0 921 c.921G>A c.(919-921)agG>agA p.R307R NM_012360 NP_036492 O43749 OR1F1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TAGTTGGCAGGGTGGTGTTTT 0.383000 58 34 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562821 21562821 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:21562821G>A uc009zzs.3 - 3 1463 c.1098C>T c.(1096-1098)tcC>tcT p.S366S LATS2_uc001unr.4_Silent_p.S366S NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 366 G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) ACTGCTGGACGGAGGTGCTGC 0.721000 54 51 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10077009 10077009 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:10077009G>A uc002mmq.1 - 63 4849 c.4763C>T c.(4762-4764)cCc>cTc p.P1588L NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1588 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CTTCTTGTCGGGATAGAGGCA 0.592000 61 49 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563527 228563527 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:228563527G>A uc002vpi.3 - 2 993 c.904C>T c.(904-906)Ctg>Ttg p.L302L SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.L298L NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA. 302 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) TAATCCCACAGGATTTGAACA 0.443000 54 35 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237300953 237300953 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:237300953C>T uc002vwb.2 - 9 1306 c.1272G>A c.(1270-1272)caG>caA p.Q424Q IQCA1_uc002vvz.1_Silent_p.Q417Q|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.Q376Q NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 417 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 GATCATAGTCCTGAGAGAAAT 0.338000 7 3 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121678851 121678851 + Missense_Mutation SNP C G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:121678851C>G uc003vjy.3 + 18 5805 c.5410C>G c.(5410-5412)Ctg>Gtg p.L1804V PTPRZ1_uc011knt.2_Missense_Mutation_p.L944V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L937V NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 1804 Tyrosine-protein phosphatase 1. 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 CCAAGGCCCACTGAAATCCAC 0.383000 12 61 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97329700 97329700 + Splice_Site SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:97329700T>G uc010how.1 + 13 2617 c.2574_splice c.e13+2 p.R858_splice EPHA6_uc011bgp.1_Splice_Site_p.R224_splice|EPHA6_uc003drs.4_Splice_Site_p.R250_splice|EPHA6_uc003drr.4_Splice_Site_p.R250_splice|EPHA6_uc003drt.3_Splice_Site_p.R250_splice|EPHA6_uc010hox.1_Splice_Site NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 763 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTTTTGCGGGTGAGGTGTTCT 0.338000 42 28 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99670775 99670775 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:99670775G>A uc002bup.3 + 4 2327 c.2207G>A c.(2206-2208)aGg>aAg p.R736K SYNM_uc002buo.3_Missense_Mutation_p.R736K|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 737 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CTGAAAGGGAGGGAGGGGAGA 0.537000 6 19 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100352147 100352147 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:100352147C>T uc003duc.3 + 3 641 c.373C>T c.(373-375)Cta>Tta p.L125L GPR128_uc011bhc.2_5'Flank NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 125 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CAGTCTCTCTCTATATGGAGA 0.338000 47 51 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33232210 33232210 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:33232210G>C uc003odm.1 - 13 1675 c.1465C>G c.(1465-1467)Cag>Gag p.Q489E VPS52_uc003odn.1_Missense_Mutation_p.Q300E NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA. 489 protein transport Golgi apparatus|endosome membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 CGGACGCTCTGAACATTCATC 0.552000 211 91 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113131019 113131020 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:113131019_113131020CC>TT uc021qqp.1 + 16 2543_2544 c.2171_2172CC>TT c.(2170-2172)acc>aTT p.T724I NCAM1_uc001pnp.3_Missense_Mutation_p.T723I|NCAM1_uc021qqo.1_Missense_Mutation_p.T688I|NCAM1_uc001pnq.3_Missense_Mutation_p.T698I|NCAM1_uc001pnr.3_Missense_Mutation_p.T688I|NCAM1_uc001pns.3_Missense_Mutation_p.T82I NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 702 axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|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) GTGTTCAGGACCTCGGCCCAGC 0.530000 61 26 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298474 107298474 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:107298474G>A uc004bcb.1 - 0 621 c.621C>T c.(619-621)ttC>ttT p.F207F NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TTTCACATGCGAAATGATTGA 0.428000 31 106 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33139583 33139583 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:33139583T>C uc003ocx.1 - 41 3285 c.3057A>G c.(3055-3057)gaA>gaG p.E1019E COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.E933E|COL11A2_uc003ocz.1_Silent_p.E912E NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1019 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.G1018G(1) 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 CTGCACCTCGTTCCCCAGGGG 0.637000 25 8 0 0 1 0 0 C12orf35 55196 broad.mit.edu 37 12 32134230 32134230 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:32134230T>C uc001rks.3 + 3 755 c.341T>C c.(340-342)gTt>gCt p.V114A NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 114 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TCTTCAGGAGTTACCCAAAAC 0.418000 53 19 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48452995 48452995 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:48452995C>T uc002iqs.2 + 1 508 c.426C>T c.(424-426)atC>atT p.I142I MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Silent_p.I142I NM_152463 NP_689676 Q96AY2 EME1_HUMAN Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA. 142 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TTCCAAAGATCCCTGAAGTTC 0.473000 Direct reversal of damage;Homologous recombination 89 66 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141986896 141986896 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:141986896G>A uc002tvj.1 - 5 1678 c.706C>T c.(706-708)Cat>Tat p.H236Y LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 236 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) TCCAGAGTATGAATTTCATTT 0.303000 TSP Lung(27;0.18) 34 24 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17483346 17483346 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:17483346C>T uc001mnc.3 - 4 732 c.606G>A c.(604-606)agG>agA p.R202R ABCC8_uc010rcy.1_Silent_p.R202R NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 202 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) GCTTCACCTCCCTCGGTGTCT 0.577000 37 39 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978607 247978607 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:247978607C>T uc001idm.1 - 0 425 c.425G>A c.(424-426)aGa>aAa p.R142K NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA. 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CACAGTGGCTCTTTGGACACA 0.522000 150 217 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42473728 42473728 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:42473728C>T uc002osh.3 - 18 2701 c.2547G>A c.(2545-2547)atG>atA p.M849I ATP1A3_uc010xwf.2_Missense_Mutation_p.M860I|ATP1A3_uc010xwg.2_Missense_Mutation_p.M819I|ATP1A3_uc002osg.3_Missense_Mutation_p.M849I|ATP1A3_uc010xwh.2_Missense_Mutation_p.M862I P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 849 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GAGCCTGGATCATTCCTGGAA 0.607000 77 63 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485242 97485242 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:97485242C>T uc001vmw.3 + 1 1230 c.1206C>T c.(1204-1206)ttC>ttT p.F402F NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA. 402 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) ATCTAAACTTCCTGGACATGC 0.552000 107 64 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241488 3241488 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:3241488G>A uc004crg.4 - 4 2395 c.2238C>T c.(2236-2238)ctC>ctT p.L746L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 746 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) AATGCTTCCAGAGTTTCAGCT 0.428000 53 38 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43912008 43912008 + Nonsense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:43912008A>T uc010dap.3 + 13 1478 c.1213A>T c.(1213-1215)Aag>Tag p.K405* CRHR1_uc010wjx.2_Nonsense_Mutation_p.K201*|CRHR1_uc002ijp.3_Silent_p.G229G|CRHR1_uc002ijm.3_Nonsense_Mutation_p.K376*|CRHR1_uc002ijn.3_Nonsense_Mutation_p.K336*|CRHR1_uc010dar.3_Nonsense_Mutation_p.K362*|CRHR1_uc010dao.3_Nonsense_Mutation_p.K275*|CRHR1_uc010daq.3_Nonsense_Mutation_p.K201*|CRHR1_uc021tyu.1_Nonsense_Mutation_p.K187* NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 405 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding p.V404A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TGCCATCCGGAAGAGGTGGCA 0.662000 53 35 0 0 1 0 0 GCFC1 94104 broad.mit.edu 37 21 34131546 34131546 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:34131546G>A uc002yqn.3 - 6 1418 c.1228C>T c.(1228-1230)Cga>Tga p.R410* GCFC1_uc002yqm.3_5'Flank|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Nonsense_Mutation_p.R410* NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA. 410 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 39 TGCTGCTGTCGATTTGTTTTG 0.413000 71 49 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110884433 110884433 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:110884433G>A uc003hzy.4 + 8 1869 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K EGF_uc011cfu.2_Missense_Mutation_p.E431K|EGF_uc011cfv.2_Missense_Mutation_p.E473K NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 473 EGF-like 4. DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ACAACTGGATGAAAAAAGCTG 0.433000 118 88 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160160769 160160769 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:160160769G>A uc010pja.2 + 0 485 c.228G>A c.(226-228)gaG>gaA p.E76E NM_001231 NP_001222 P31415 CASQ1_HUMAN Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA. 76 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACCCCCCGAGGATGACAAGG 0.527000 49 43 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7177764 7177764 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:7177764G>A uc004cry.4 + 4 1017 c.772G>A c.(772-774)Gac>Aac p.D258N NM_000351 NP_000342 P08842 STS_HUMAN Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA. 258 female pregnancy|steroid catabolic process Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CATGTCCTATGACAATCTCAC 0.507000 Ichthyosis 212 81 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790565 4790565 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:4790565G>A uc010qyl.2 - 0 583 c.583C>T c.(583-585)Cgg>Tgg p.R195W NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA. 195 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CTATTTGCCCGAATGTCTGAA 0.388000 139 86 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366799 40366799 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:40366799C>T uc002rrx.3 - 8 2311 c.2287G>A c.(2287-2289)Gat>Aat p.D763N LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.D758N|SLC8A1_uc002rsb.2_Missense_Mutation_p.D755N|SLC8A1_uc002rrz.3_Missense_Mutation_p.D750N|SLC8A1_uc002rsa.3_Missense_Mutation_p.D727N|SLC8A1_uc002rsd.4_Missense_Mutation_p.D727N NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 763 Poly-Asp. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.D762D(1)|p.D762N(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCACATTCATCGTCGTCATCA 0.502000 142 104 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367305 105367306 + Missense_Mutation DNP CA GG GG TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:105367305_105367306CA>GG uc003ylx.1 + 2 1279_1280 c.1230_1231CA>GG c.(1228-1233)cccagc>ccGGgc p.S411G NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 411 osteoclast differentiation cell surface|integral to membrane|plasma membrane CTTTCTACCCCAGCGTGGAGAG 0.450000 113 91 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57837893 57837893 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:57837893G>A uc010bfw.3 + 17 3797 c.3604G>A c.(3604-3606)Gac>Aac p.D1202N CGNL1_uc002aeg.3_Missense_Mutation_p.D1202N NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 1202 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGATCAGAAGGACCAGGTGGG 0.582000 16 11 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138400541 138400541 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:138400541A>G uc003vuf.3 - 18 2463 c.2225T>C c.(2224-2226)cTg>cCg p.L742P ATP6V0A4_uc003vug.3_Missense_Mutation_p.L742P|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.L742P NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 742 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCAGAGCCGCAGGTAGGAGGC 0.562000 201 4 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39502882 39502882 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:39502882G>A uc003xni.3 + 10 990 c.935G>A c.(934-936)gGa>gAa p.G312E ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G288E NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 312 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GGTTTGGAGGGATTTTCGGTT 0.313000 15 49 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15115180 15115180 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:15115180G>A uc001int.2 + 8 1163 c.909G>A c.(907-909)aaG>aaA p.K303K ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Silent_p.K250K NM_018324 NP_060794 Q9NV23 SAST_HUMAN Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA. 250 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 AATTAATCAAGAACTACATAA 0.338000 29 24 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543092 14543092 + Silent SNP G A A rs45502401 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:14543092G>A uc010dln.3 - 0 508 c.54C>T c.(52-54)ttC>ttT p.F18F POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 18 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCCTGAGATCGAATGGCTTCT 0.572000 148 7 0 0 1 0 0 FAM55A 120400 broad.mit.edu 37 11 114401202 114401202 + Silent SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:114401202G>C uc001ppa.3 - 2 519 c.102C>G c.(100-102)gtC>gtG p.V34V FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Silent_p.V176V NM_152315 NP_689528 Q8N323 FA55A_HUMAN Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA. 176 extracellular region p.Q33R(1) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 17 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) GAGACAGGGAGACCTGGCCCT 0.537000 80 32 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364490 5364490 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:5364490C>T uc001map.1 - 0 265 c.265G>A c.(265-267)Gag>Aag p.E89K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E89K NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCCAATCTCCCTGTGATCC 0.557000 41 32 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65234479 65234479 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:65234479C>T uc001xht.3 - 28 6172 c.6121G>A c.(6121-6123)Gtg>Atg p.V2041M SPTB_uc001xhr.3_Missense_Mutation_p.V2041M|SPTB_uc001xhs.3_Missense_Mutation_p.V2041M|SPTB_uc001xhu.3_Missense_Mutation_p.V2041M|SPTB_uc010aqi.3_Missense_Mutation_p.V702M NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 2041 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ACACTGTCCACTGTGTGTCCA 0.612000 82 63 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540187 169540187 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:169540187G>A uc003fgb.3 + 0 478 c.478G>A c.(478-480)Gaa>Aaa p.E160K NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 160 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TCTGCCCAAGGAAATAGTGAA 0.502000 66 56 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116691697 116691697 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:116691697C>T uc001pps.1 - 2 1181 c.1077G>A c.(1075-1077)aaG>aaA p.K359K NM_000482 NP_000473 Homo sapiens apolipoprotein A-IV (APOA4), mRNA. cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCTCTTTCTCCTTGAAGGTGC 0.602000 39 33 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222428631 222428631 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:222428631G>A uc002vmq.3 - 2 685 c.643C>T c.(643-645)Cct>Tct p.P215S EPHA4_uc002vmr.2_Missense_Mutation_p.P215S|EPHA4_uc010zlm.1_Missense_Mutation_p.P156S NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 215 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) ATGGTGTCAGGAAACTGGGCC 0.512000 113 76 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117305614 117305614 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:117305614T>A uc003vjd.3 + 25 4370 c.4238T>A c.(4237-4239)tTt>tAt p.F1413Y CFTR_uc011knq.2_Missense_Mutation_p.F819Y NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1413 ABC transporter 2. 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|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme 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) TGCCAACAATTTTTGGTGAGT 0.343000 Cystic Fibrosis 13 40 0 0 1 0 0 SOWAHD 347454 broad.mit.edu 37 X 118892684 118892684 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:118892684G>A uc010nql.3 + 0 109 c.54G>A c.(52-54)ccG>ccA p.P18P NM_001105576 NP_001099046 A6NJG2 ANR58_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA. 18 CTCTCGCGCCGACCTCGCAGA 0.741000 24 11 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150072517 150072517 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:150072517G>A uc003lst.3 - 9 1194 c.1072C>T c.(1072-1074)Cca>Tca p.P358S NM_018047 NP_060517 Q9NW64 RBM22_HUMAN Homo sapiens RNA binding motif protein 22 (RBM22), mRNA. 358 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding p.P358T(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCACAGCTGGAGGACCACTT 0.542000 114 55 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45316556 45316556 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:45316556G>A uc002ozu.3 + 4 598 c.554G>A c.(553-555)tGg>tAg p.W185* BCAM_uc002ozt.1_Nonsense_Mutation_p.W185* NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 185 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AAGATCACGTGGTATCGCAAC 0.682000 80 52 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128726942 128726942 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:128726942G>A uc003ifm.3 + 9 1491 c.1238G>A c.(1237-1239)gGa>gAa p.G413E HSPA4L_uc010iny.1_Missense_Mutation_p.G372E|HSPA4L_uc011cgr.2_Missense_Mutation_p.G380E NM_014278 NP_055093 O95757 HS74L_HUMAN Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA. 413 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 TTTGAAGATGGAAGTGGGTAA 0.343000 50 44 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56320494 56320494 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:56320494G>A uc010ygf.2 - 4 2193 c.1482C>T c.(1480-1482)ttC>ttT p.F494F NLRP11_uc002qlz.3_Silent_p.F395F|NLRP11_uc002qmb.3_Silent_p.F395F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 494 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) GACCAAAAATGAAAGTAAACA 0.418000 105 66 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671911 49671911 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:49671911C>T uc002efs.3 - 4 1450 c.1152G>A c.(1150-1152)ccG>ccA p.P384P ZNF423_uc010vgn.2_Silent_p.P267P NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 384 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AGGTGGAGTCCGGGGTGGAGC 0.652000 50 29 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890167 55890167 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55890167T>A uc001nii.1 + 0 319 c.319T>A c.(319-321)Ttg>Atg p.L107M NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F106L(1) 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) TTTTGTCTTCTTGGGTACTGC 0.443000 266 250 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11659920 11659920 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:11659920G>A uc002gne.3 + 33 6842 c.6774G>A c.(6772-6774)ctG>ctA p.L2258L DNAH9_uc010coo.3_Silent_p.L1552L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2258 AAA 2 (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) GGATTCCTCTGAACCCCACCA 0.577000 214 138 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109577476 109577476 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:109577476G>A uc001tob.3 + 1 385 c.266G>A c.(265-267)aGa>aAa p.R89K ACACB_uc001toc.3_Missense_Mutation_p.R89K NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 89 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGTCGGCGGAGAAACTCCCTA 0.632000 76 56 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17720797 17720797 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:17720797T>G uc021uqk.1 - 41 4802 c.4760A>C c.(4759-4761)aAa>aCa p.K1587T NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 1588 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GTTCTTGGATTTGGTCGCAAA 0.537000 88 58 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36172574 36172574 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:36172574C>T uc003olv.4 + 2 1812 c.1588C>T c.(1588-1590)Caa>Taa p.Q530* BRPF3_uc010jwb.3_Nonsense_Mutation_p.Q530*|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Nonsense_Mutation_p.Q530* NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 530 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding p.Q530*(2) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 TCTGCAGTCCCAAAGAAACGC 0.547000 259 94 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 12989926 12989926 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:12989926C>T uc002wod.1 + 0 300 c.11C>T c.(10-12)cCt>cTt p.P4L SPTLC3_uc002woc.3_Missense_Mutation_p.P4L NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 4 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.N3K(1) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) ATGGCTAACCCTGGAGGTGGT 0.488000 106 73 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122418363 122418363 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:122418363C>T uc003efq.4 + 5 1021 c.962C>T c.(961-963)cCa>cTa p.P321L PARP14_uc021xdc.1_Missense_Mutation_p.P185L|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.P38L|PARP14_uc003efs.1_Missense_Mutation_p.P38L NM_017554 NP_060024 Q460N5 PAR14_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA. 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CTTCCAGCACCATTTGAAGAG 0.433000 59 37 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78485846 78485846 + Splice_Site SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:78485846A>G uc002bdh.3 - 5 869 c.663_splice c.e5+1 p.K221_splice ACSBG1_uc010umx.2_Intron|ACSBG1_uc010umw.2_Splice_Site_p.K217_splice|ACSBG1_uc010umy.2_Splice_Site_p.K114_splice NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. 221 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 TCTTCCCCAAACCTTCAGGAT 0.582000 67 70 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564612 176564612 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:176564612G>A uc001gkz.3 + 2 3036 c.1872G>A c.(1870-1872)agG>agA p.R624R PAPPA2_uc001gky.1_Silent_p.R624R|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 624 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R624S(3)|p.R623H(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGAACCGCAGGGATGGGCTCT 0.597000 62 36 0 0 1 0 0 TGFB3 7043 broad.mit.edu 37 14 76429816 76429816 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:76429816C>T uc001xsc.2 - 4 1625 c.769G>A c.(769-771)Gat>Aat p.D257N TGFB3_uc001xsd.3_Missense_Mutation_p.D255N NM_003239 NP_003230 P10600 TGFB3_HUMAN Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA. 257 cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.0169) CCATGGTCATCCTCATTGTCC 0.562000 122 75 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135405474 135405474 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:135405474G>A uc004ezu.1 + 4 899 c.608G>A c.(607-609)gGa>gAa p.G203E GPR112_uc010nsb.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 203 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGTTTAGATGGAAATATAGTT 0.423000 128 81 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183658198 183658198 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:183658198C>T uc003ivd.1 + 15 3280 c.3205C>T c.(3205-3207)Cag>Tag p.Q1069* ODZ3_uc003ive.1_Nonsense_Mutation_p.Q475* NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1069 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGCATATAATCAGAAAGTCTA 0.363000 115 73 0 0 1 0 0 PRRT2 112476 broad.mit.edu 37 16 29824868 29824868 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:29824868G>A uc002dud.2 + 1 794 c.493G>A c.(493-495)Gac>Aac p.D165N BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Missense_Mutation_p.D165N|PRRT2_uc002duf.1_Missense_Mutation_p.D165N|C16orf53_uc002dug.4_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA. 165 Pro-rich. response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 TACCCAGGAGGACCCCACCCC 0.642000 44 26 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163291946 163291946 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:163291946C>T uc002uch.2 - 7 1945 c.1716G>A c.(1714-1716)gcG>gcA p.A572A KCNH7_uc002uci.3_Silent_p.A565A NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 572 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CATTCCCAATCGCATACCAAA 0.443000 75 43 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117993060 117993060 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:117993060C>T uc001two.2 - 8 1400 c.1345G>A c.(1345-1347)Gac>Aac p.D449N NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 478 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTGTTGATGTCACACGGAACG 0.483000 31 34 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123515034 123515034 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:123515034C>T uc010nqy.3 - 31 7615 c.7551G>A c.(7549-7551)ggG>ggA p.G2517G ODZ1_uc011muj.2_Silent_p.G2516G|ODZ1_uc004euj.3_Silent_p.G2510G NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2510 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TTGGTTGCTTCCCTCCTTCAA 0.448000 149 102 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52643768 52643768 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:52643768G>A uc003des.2 - 15 2140 c.2128C>T c.(2128-2130)Cga>Tga p.R710* PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.R710*|PBRM1_uc003der.2_Nonsense_Mutation_p.R678*|PBRM1_uc003det.2_Nonsense_Mutation_p.R725*|PBRM1_uc003deu.2_Nonsense_Mutation_p.R725*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.R710*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.R710*|PBRM1_uc003dey.2_Nonsense_Mutation_p.R710*|PBRM1_uc003dez.1_Nonsense_Mutation_p.R710*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.R623*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.R56*|PBRM1_uc003dfc.3_Nonsense_Mutation_p.R77* NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 710 Bromo 5. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding p.R710*(3)|p.R678*(1)|p.R710fs*13(1)|p.I709T(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATGTGACTTCGAATTTTTTCC 0.438000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 22 58 0 0 1 0 0 SOLH 6650 broad.mit.edu 37 16 602523 602524 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:602523_602524CC>TT uc002chi.3 + 10 3093_3094 c.2730_2731CC>TT c.(2728-2733)gccccc>gcTTcc p.P911S SOLH_uc002chj.3_5'UTR NM_005632 NP_005623 O75808 CAN15_HUMAN Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA. 911 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Hepatocellular(780;0.00335) GCACCCCTGCCCCCCAGGGTAC 0.708000 13 12 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341214 121341214 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:121341214A>C uc003eeg.2 + 2 1148 c.938A>C c.(937-939)cAc>cCc p.H313P NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 313 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TATCTAGTGCACAATGGGCGG 0.488000 110 52 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969445 5969445 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:5969445G>A uc002kmz.4 - 17 1748 c.1588C>T c.(1588-1590)Cca>Tca p.P530S L3MBTL4_uc002kmy.4_Missense_Mutation_p.P521S|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P530S NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 530 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GCCACGCCTGGAAGCAACTTG 0.647000 119 87 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369832 56369832 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:56369832G>A uc002qmd.4 + 2 1495 c.1073G>A c.(1072-1074)gGa>gAa p.G358E NLRP4_uc002qmf.3_Missense_Mutation_p.G283E|NLRP4_uc010etf.3_Missense_Mutation_p.G189E NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 358 NACHT. ATP binding p.G358R(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGCAGAAAGGAAAAGACCTG 0.512000 48 28 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88533290 88533290 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:88533290G>A uc003hqu.3 + 2 205 c.85G>A c.(85-87)Gaa>Aaa p.E29K NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 29 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GAGACATGTCGAAAAATCCAT 0.368000 47 31 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65267575 65267575 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:65267575C>T uc001xht.3 - 6 826 c.775G>A c.(775-777)Gaa>Aaa p.E259K SPTB_uc001xhr.3_Missense_Mutation_p.E259K|SPTB_uc001xhs.3_Missense_Mutation_p.E259K|SPTB_uc001xhu.3_Missense_Mutation_p.E259K NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 259 Actin-binding.|CH 2. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.E259K(2) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCAGGGTTTTCCGTAAAGACA 0.498000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 17 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179546356 179546356 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:179546356C>T uc003mlq.3 - 6 1194 c.897G>A c.(895-897)atG>atA p.M299I RASGEF1C_uc003mlr.3_Missense_Mutation_p.M299I|RASGEF1C_uc003mlp.4_Missense_Mutation_p.M148I NM_175062 NP_778232 Q8N431 RGF1C_HUMAN Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA. 299 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-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;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGATGATGGCCATGAGGGAGT 0.642000 62 46 0 0 1 0 0 SLC25A41 284427 broad.mit.edu 37 19 6433510 6433510 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:6433510G>A uc010dus.3 - 0 281 c.195C>T c.(193-195)ctC>ctT p.L65L SLC25A41_uc010dut.3_5'UTR NM_173637 NP_775908 Q8N5S1 S2541_HUMAN Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA. 65 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 GCTGTGACGGGAGATGTTCAA 0.602000 101 70 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91404737 91404737 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:91404737C>T uc001kgp.2 - 0 593 c.323G>A c.(322-324)gGa>gAa p.G108E PANK1_uc001kgn.2_5'Flank|PANK1_uc001kgo.2_5'Flank|PANK1_uc009xtu.2_5'Flank NM_148977 NP_683878 Q8TE04 PANK1_HUMAN Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA. 108 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) CCCGGATCCTCCCTGCGGCTT 0.736000 2 18 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34182069 34182069 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:34182069C>T uc001bxm.1 - 19 3211 c.3034G>A c.(3034-3036)Gaa>Aaa p.E1012K CSMD2_uc001bxn.1_Missense_Mutation_p.E972K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 972 CUB 6. 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) TGGCCACTTTCCAGGTGGAAG 0.577000 33 26 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907852 12907852 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:12907852C>T uc010obf.2 - 1 517 c.291G>A c.(289-291)gtG>gtA p.V97V LOC649330_uc009vno.2_Silent_p.V97V NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 97 nucleic acid binding|nucleotide binding CTGATCGTTTCACACCTGCGT 0.493000 206 29 0 0 1 0 0 CCDC47 57003 broad.mit.edu 37 17 61829298 61829298 + Splice_Site SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:61829298A>G uc002jbs.4 - 12 1707 c.1371_splice c.e12+1 p.E457_splice CCDC47_uc010ddx.3_Splice_Site_p.E457_splice|CCDC47_uc002jbt.2_Missense_Mutation_p.V458A NM_020198 NP_064583 Q96A33 CCD47_HUMAN Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA. 457 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 AGTTTGTCTAACCTCCAGCCT 0.443000 140 96 0 0 1 0 0 RIMKLB 57494 broad.mit.edu 37 12 8866624 8866624 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:8866624G>A uc001qux.2 + 2 1424 c.162G>A c.(160-162)gaG>gaA p.E54E RIMKLB_uc009zgf.2_Non-coding_Transcript|RIMKLB_uc010sgl.1_Silent_p.E54E|RIMKLB_uc001quw.2_Silent_p.E54E NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA. 54 protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TGACAATCGAGCAAGGAAACC 0.403000 64 3 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189927626 189927626 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:189927626C>T uc002uqk.3 - 28 2217 c.1942G>A c.(1942-1944)Ggt>Agt p.G648S COL5A2_uc010frx.3_Missense_Mutation_p.G224S NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 648 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAACTTCACCATCTTTTCCA 0.383000 83 67 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54417298 54417298 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:54417298C>T uc001xal.4 - 2 866 c.679G>A c.(679-681)Gag>Aag p.E227K BMP4_uc010aoh.3_Missense_Mutation_p.E227K|BMP4_uc001xao.4_Missense_Mutation_p.E227K|BMP4_uc001xan.4_Missense_Mutation_p.E227K NM_130851 NP_570912 P12644 BMP4_HUMAN Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA. 227 BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 GGCTGCTTCTCCCGGGTCCAG 0.567000 155 101 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66475680 66475680 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:66475680C>T uc001ojd.3 - 10 1354 c.1282G>A c.(1282-1284)Gcc>Acc p.A428T NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 428 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCGAAGCGGGCGGCCAGCTGC 0.667000 47 24 0 0 1 0 0 SPDYE5 442590 broad.mit.edu 37 7 75130895 75130895 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:75130895C>T uc011kfy.2 + 5 906 c.770C>T c.(769-771)cCg>cTg p.P257L DQ601342_uc022agh.1_5'Flank NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA. 257 Arg-rich. TCCATGAACCCGAGGGCCAGG 0.592000 448 10 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951282 10951282 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:10951282G>A uc002yip.1 - 9 798 c.430C>T c.(430-432)Cga>Tga p.R144* TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R126*|TPTE_uc002yir.1_Nonsense_Mutation_p.R106*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R6* NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 144 R -> Q (in a breast cancer sample; somatic mutation). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D144Y(2)|p.R126*(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) ACAAATACTCGAAGAAGAACA 0.358000 80 30 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132440114 132440114 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:132440114C>T uc004exc.1 - 4 1158 c.946G>A c.(946-948)Gat>Aat p.D316N GPC4_uc011mvg.1_Missense_Mutation_p.D246N NM_001448 NP_001439 O75487 GPC4_HUMAN Homo sapiens glypican 4 (GPC4), mRNA. 316 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) ATCTTCACATCGATGGGATCC 0.453000 162 115 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63542372 63542372 + Silent SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:63542372T>A uc003dlp.3 + 3 659 c.363T>A c.(361-363)atT>atA p.I121I SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Intron|SYNPR_uc003dlq.3_Silent_p.I101I|SYNPR_uc010hnt.3_Silent_p.I110I|SYNPR_uc011bfm.2_Intron NM_001130003 NP_001123475 Q8TBG9 SYNPR_HUMAN Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA. 101 MARVEL. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) TCGTTTACATTTTCTTCCAGA 0.428000 6 15 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37311465 37311465 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:37311465C>T uc022abv.1 - 4 925 c.215G>A c.(214-216)gGc>gAc p.G72D ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.G72D|ELMO1_uc010kxg.2_Missense_Mutation_p.G72D NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 72 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 AAGGATAGTGCCATTTTTTAT 0.358000 84 34 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23191529 23191529 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:23191529G>C uc009vqj.1 + 4 1272 c.1127G>C c.(1126-1128)gGg>gCg p.G376A EPHB2_uc001bge.3_Missense_Mutation_p.G376A|EPHB2_uc001bgf.3_Missense_Mutation_p.G376A|EPHB2_uc010odu.2_Missense_Mutation_p.G376A|MIR4253_uc021oic.1_5'Flank NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 376 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACCCGCTGCGGGGACAATGTA 0.637000 70 52 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123480592 123480592 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:123480592C>T uc001pyw.2 + 12 1668 c.1339C>T c.(1339-1341)Ccc>Tcc p.P447S GRAMD1B_uc001pyx.2_Missense_Mutation_p.P440S|GRAMD1B_uc010rzw.2_Missense_Mutation_p.P400S|GRAMD1B_uc010rzx.1_Missense_Mutation_p.P400S|GRAMD1B_uc009zbe.1_Missense_Mutation_p.P436S|GRAMD1B_uc001pyy.2_Missense_Mutation_p.P131S NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA. 440 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCCTCTGGCTCCCAAAACTGC 0.502000 9 7 0 0 1 0 0 PFKFB1 5207 broad.mit.edu 37 X 54984787 54984787 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:54984787G>A uc004dty.1 - 5 539 c.468C>T c.(466-468)ttC>ttT p.F156F PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Silent_p.F91F NM_002625 NP_002616 P16118 F261_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA. 156 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TGGACTCAATGAAAAACACCT 0.388000 53 38 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14951449 14951449 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:14951449T>C uc002dcv.3 + 10 1223 c.1157T>C c.(1156-1158)tTt>tCt p.F386S NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 386 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CACCTCTACTTTGAAACGGTC 0.438000 212 86 0 0 1 0 0 PDE6G 5148 broad.mit.edu 37 17 79620252 79620252 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:79620252A>G uc002kay.3 - 1 228 c.84T>C c.(82-84)ccT>ccC p.P28P PDE6G_uc002kaz.3_Intron NM_002602 NP_002593 P18545 CNRG_HUMAN Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1, mRNA. 28 Arg/Lys-rich (basic). platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GCTTAAATTTAGGGGGCCCTT 0.612000 111 78 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35199555 35199555 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:35199555A>C uc003okf.1 + 3 394 c.388A>C c.(388-390)Atg>Ctg p.M130L SCUBE3_uc003okg.1_Missense_Mutation_p.M130L|SCUBE3_uc003okh.1_Missense_Mutation_p.M1L NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA. 130 EGF-like 3; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 CTGTGTCAACATGATGGGCAG 0.597000 150 54 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 19 24010594 24010594 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:24010594G>A uc002nrn.3 + 3 1054 c.631G>A c.(631-633)Gaa>Aaa p.E211K NM_002295 NP_002286 P08865 RSSA_HUMAN Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA. 211 Laminin-binding. E -> G (in Ref. 3; AAB22299). cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) TGAAGAGATTGAAAAAGAAGA 0.532000 20 11 0 0 1 0 0 C9orf106 414318 broad.mit.edu 37 9 132084184 132084184 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:132084184C>T uc004bxs.2 + 1 145 c.92C>T c.(91-93)cCc>cTc p.P31L NM_001012715 NP_001012733 Q8NAJ2 CI106_HUMAN Homo sapiens chromosome 9 open reading frame 106 (C9orf106), mRNA. 31 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) cttttctctcccaggcccttg 0.612000 3 8 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 49977200 49977200 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:49977200G>A uc003tou.3 - 7 1050 c.980C>T c.(979-981)tCa>tTa p.S327L ZPBP_uc010kyw.3_Missense_Mutation_p.S326L NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 327 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GGGGTTATATGATCCAGGGCT 0.353000 124 80 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7680645 7680645 + Silent SNP C T T rs147636119 by1000genomes TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:7680645C>T uc002cys.2 + 10 1705 c.717C>T c.(715-717)tcC>tcT p.S239S RBFOX1_uc010buf.1_Silent_p.S239S|RBFOX1_uc002cyr.1_Silent_p.S238S|RBFOX1_uc002cyt.2_Intron|RBFOX1_uc010uxz.1_Silent_p.S282S|RBFOX1_uc010uya.1_Silent_p.S196S|RBFOX1_uc002cyv.1_Silent_p.S239S|RBFOX1_uc010uyb.1_Silent_p.S239S|RBFOX1_uc002cyw.2_Silent_p.S259S|RBFOX1_uc002cyy.2_Silent_p.S259S|RBFOX1_uc002cyx.2_Silent_p.S259S|RBFOX1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 239 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding p.S259S(2)|p.S239S(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGGGATCTTCCATGTACAGTG 0.483000 67 48 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917646 32917646 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:32917646A>G uc003ocm.2 - 2 480 c.394T>C c.(394-396)Ttc>Ctc p.F132L HLA-DMA_uc011dqm.1_3'UTR NM_006120 NP_006111 Q31604 Q31604_HUMAN Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA. 132 MHC class II protein complex|integral to membrane kidney(1)|large_intestine(2)|lung(8) 11 TTCAGCGTGAACACTTCAGCG 0.498000 117 47 0 0 1 0 0 HSD11B2 3291 broad.mit.edu 37 16 67470637 67470637 + Missense_Mutation SNP G A A rs147758873 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:67470637G>A uc002etd.3 + 4 1065 c.949G>A c.(949-951)Gac>Aac p.D317N NM_000196 NP_000187 P80365 DHI2_HUMAN Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA. 317 glucocorticoid biosynthetic process endoplasmic reticulum|microsome breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) GGCCATGTCCGACCTCACCCC 0.632000 161 96 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56467272 56467272 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:56467272C>T uc002qmh.3 + 2 1919 c.1848C>T c.(1846-1848)atC>atT p.I616I NLRP8_uc010etg.3_Silent_p.I616I NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 616 cytoplasm ATP binding p.E615K(1) 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) TGCATGAAATCCGGGAGGAAG 0.443000 65 55 0 0 1 0 0 TMSB15B 286527 broad.mit.edu 37 X 103219191 103219191 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:103219191G>A uc010noz.3 + 1 816 c.96G>A c.(94-96)aaG>aaA p.K32K TMSB15B_uc004elo.4_Non-coding_Transcript|TMSB15B_uc004elq.4_Non-coding_Transcript NM_194324 NP_919305 P0CG34 TB15A_HUMAN Homo sapiens thymosin beta 15B (TMSB15B), mRNA. 32 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding skin(1) 1 TTCCCTCAAAGGAAAGTAAGT 0.338000 172 22 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55786039 55786039 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:55786039A>T uc002rzc.3 - 15 3018 c.2326T>A c.(2326-2328)Ttc>Atc p.F776I SMEK2_uc002rzb.3_Missense_Mutation_p.F691I|SMEK2_uc002rzd.3_Missense_Mutation_p.F744I|SMEK2_uc002ryz.3_Missense_Mutation_p.F203I|SMEK2_uc002rza.3_Missense_Mutation_p.F560I NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA. 776 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAGTGGGAGAAAGTAAATTTG 0.393000 130 105 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66431077 66431078 + Missense_Mutation DNP CC TT TT rs2279289 byFrequency TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:66431077_66431078CC>TT uc003dmx.3 - 17 2992_2993 c.2978_2979GG>AA c.(2977-2979)ggg>gAA p.G993E SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.G613E|LRIG1_uc003dmw.3_Missense_Mutation_p.G659E|LRIG1_uc010hnz.3_Missense_Mutation_p.G709E|LRIG1_uc010hoa.3_Missense_Mutation_p.G970E NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 993 G -> A (in dbSNP:rs2279289). integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GGTAGAGCGACCCTTGGCACTC 0.554000 156 101 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780653 37780653 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:37780653G>A uc003tfm.1 + 0 658 c.658G>A c.(658-660)Gag>Aag p.E220K BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 220 integral to membrane|plasma membrane G-protein coupled receptor activity p.Q219K(2) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATCCCACCAGGAGTTCTGGGC 0.423000 134 97 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113537790 113537790 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:113537790C>T uc001tun.2 - 21 2666 c.2365G>A c.(2365-2367)Gag>Aag p.E789K RASAL1_uc010syp.2_Missense_Mutation_p.E788K|RASAL1_uc001tul.3_Missense_Mutation_p.E759K|RASAL1_uc001tum.2_Missense_Mutation_p.E787K NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 787 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TGGAACTCCTCGTGGGCACGA 0.667000 63 51 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31072478 31072478 + Nonsense_Mutation SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:31072478C>A uc021tgt.1 - 3 2196 c.1840G>T c.(1840-1842)Gaa>Taa p.E614* ZNF668_uc010cag.2_Nonsense_Mutation_p.E591*|ZNF668_uc010caf.3_Nonsense_Mutation_p.E591*|ZNF668_uc002eao.3_Nonsense_Mutation_p.E591* NM_001172669 NP_078982 Q96K58 ZN668_HUMAN Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA. 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TGGGTGCGTTCATGCTTGCGC 0.647000 94 76 1.26005e-42 1.27421e-42 1 1 0 PACS2 23241 broad.mit.edu 37 14 105847412 105847412 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:105847412A>G uc001yqu.3 + 11 1748 c.1244A>G c.(1243-1245)gAg>gGg p.E415G PACS2_uc001yqs.2_Missense_Mutation_p.E340G|PACS2_uc001yqt.3_Missense_Mutation_p.E415G|PACS2_uc001yqv.3_Missense_Mutation_p.E415G NM_001100913 NP_001094383 Q86VP3 PACS2_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA. 415 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) ACCAAGACAGAGTCCCTTGTC 0.697000 28 26 0 0 1 0 0 MDFI 4188 broad.mit.edu 37 6 41613917 41613917 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:41613917C>T uc003oqq.4 + 2 337 c.130C>T c.(130-132)Cct>Tct p.P44S MDFI_uc010jxn.3_Missense_Mutation_p.P44S NM_005586 NP_005577 Q99750 MDFI_HUMAN Homo sapiens MyoD family inhibitor (MDFI), mRNA. 44 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ATCCACTCACCCTGCGGAGGC 0.622000 109 37 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189425 124189425 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:124189425A>G uc010sah.2 - 0 669 c.669T>C c.(667-669)tcT>tcC p.S223S NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) CAAGGATACTAGAGAAAATGA 0.438000 85 59 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826630 46826630 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:46826630G>A uc003oyo.3 - 16 3299 c.3010C>T c.(3010-3012)Cct>Tct p.P1004S GPR116_uc011dwj.1_Missense_Mutation_p.P559S|GPR116_uc011dwk.1_Missense_Mutation_p.P433S|GPR116_uc003oyp.3_Missense_Mutation_p.P862S|GPR116_uc003oyq.3_Missense_Mutation_p.P1004S|GPR116_uc010jzi.1_Missense_Mutation_p.P676S NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 1004 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P1004L(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGAGAACTAGGATCTGGGGAG 0.488000 144 45 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107007009 107007009 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:107007009C>T uc001kyi.1 + 21 3252 c.3025C>T c.(3025-3027)Cct>Tct p.P1009S SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1009 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ATCATTCTCTCCTAATCTGGA 0.438000 8 36 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325069 31325069 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:31325069T>C uc010dmg.1 + 11 5312 c.5257T>C c.(5257-5259)Tta>Cta p.L1753L ASXL3_uc002kxq.2_Silent_p.L1460L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1753 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 GGTGACGCAGTTACTACAGGG 0.532000 26 31 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19501449 19501449 + Splice_Site SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:19501449A>G uc001bbi.3 - 21 2857 c.2853_splice c.e21+1 p.V951_splice UBR4_uc001bbm.1_Splice_Site_p.V162_splice NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 951 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) TCCTAGTACCACAGAATCAAG 0.433000 94 63 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744849 81744849 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:81744849G>A uc010tvu.2 - 3 1004 c.806C>T c.(805-807)tCa>tTa p.S269L STON2_uc001xvk.1_Missense_Mutation_p.S269L|STON2_uc010tvt.2_Missense_Mutation_p.S66L NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 269 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding p.N268S(1) 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) TGATCCCATTGAATTATAAGG 0.453000 106 57 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5630351 5630351 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:5630351G>A uc003gij.3 - 11 1875 c.1821C>T c.(1819-1821)acC>acT p.T607T EVC2_uc003gik.3_Silent_p.T527T|EVC2_uc011bwb.2_Silent_p.T47T NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 607 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CCTGCACACGGGTCTCTGATG 0.502000 84 55 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921187 24921187 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:24921187G>A uc001ywo.3 + 0 647 c.173G>A c.(172-174)aGg>aAg p.R58K NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 58 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCCCGTCGCAGGCCTTCAGCA 0.746000 48 34 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28830607 28830607 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:28830607C>T uc001urz.3 + 6 1331 c.1179C>T c.(1177-1179)atC>atT p.I393I PAN3_uc010tdo.1_Silent_p.I393I|PAN3_uc001ury.3_Silent_p.I81I|PAN3_uc001urx.3_Silent_p.I193I NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 393 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GTCAGGTGATCCAAAAGGAAA 0.423000 54 51 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111640356 111640356 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:111640356G>A uc004bdm.4 - 34 4294 c.3774C>T c.(3772-3774)gcC>gcT p.A1258A IKBKAP_uc004bdl.3_Silent_p.A909A|IKBKAP_uc011lwc.2_Silent_p.A1144A|IKBKAP_uc010mtq.3_Silent_p.A909A|IKBKAP_uc004bdk.3_Silent_p.A262A|IKBKAP_uc010mtp.3_Non-coding_Transcript NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 1258 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TATCTTCAAAGGCCTTCTGTA 0.398000 11 53 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108188969 108188969 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:108188969C>T uc003dxa.1 - 14 1591 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 512 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCTTATATTCCTCTTGCTCC 0.338000 48 33 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466505 56466505 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:56466505G>A uc002qmh.3 + 2 1152 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K NLRP8_uc010etg.3_Missense_Mutation_p.E361K NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 361 NACHT. 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) TAATACGATGGAAAAAATCAA 0.463000 112 84 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101374903 101374903 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:101374903G>A uc001pgk.4 - 1 1222 c.797C>T c.(796-798)tCg>tTg p.S266L TRPC6_uc009ywy.3_Missense_Mutation_p.S266L|TRPC6_uc009ywz.1_Missense_Mutation_p.S266L NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 266 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GTGGCTAAACGAGTCATGCTT 0.468000 150 116 0 0 1 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142250914 142250914 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:142250914C>T uc011ksf.2 - 1 148 c.133G>A c.(133-135)Gat>Aat p.D45N TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; TGTCTCATATCCTGGGTACAT 0.498000 59 33 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28578206 28578206 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:28578206G>A uc001urw.3 - 23 3047 c.2965C>T c.(2965-2967)Cag>Tag p.Q989* FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Nonsense_Mutation_p.Q948* NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 989 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TCTTCGACCTGAGCCTGCGGA 0.458000 """Mis, O""" """AML, ALL""" 86 46 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112300 154112300 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:154112300C>T uc001fdw.3 - 4 767 c.695G>A c.(694-696)cGa>cAa p.R232Q NUP210L_uc010peh.2_Missense_Mutation_p.R232Q NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 232 integral to membrane p.R232*(1) 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) TTCATGAATTCGAACTTTTAC 0.368000 289 199 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886157 55886157 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:55886157C>T uc010spo.2 + 0 11 c.11C>T c.(10-12)tCa>tTa p.S4L NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 ATGCAGAAGTCAGTAATGAGA 0.368000 73 70 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2622040 2622040 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:2622040A>T uc009zdu.1 + 8 1593 c.1280A>T c.(1279-1281)aAg>aTg p.K427M CACNA1C_uc001qkc.2_Missense_Mutation_p.K427M|CACNA1C_uc001qjz.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkd.2_Missense_Mutation_p.K427M|CACNA1C_uc001qke.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkf.2_Missense_Mutation_p.K427M|CACNA1C_uc009zdw.1_Missense_Mutation_p.K427M|CACNA1C_uc001qkg.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkh.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkl.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkj.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkk.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkn.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkm.2_Missense_Mutation_p.K427M|CACNA1C_uc001qko.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkp.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkq.2_Missense_Mutation_p.K427M|CACNA1C_uc001qku.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkr.2_Missense_Mutation_p.K427M|CACNA1C_uc001qks.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkt.2_Missense_Mutation_p.K427M|CACNA1C_uc009zdv.1_Missense_Mutation_p.K424M|CACNA1C_uc001qkb.2_Missense_Mutation_p.K427M|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.K163M|CACNA1C_uc009zdy.1_Missense_Mutation_p.K52M|CACNA1C_uc001qkv.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 427 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTGCGGGAGAAGCAGCAGCTA 0.557000 19 20 0 0 1 0 0 ZNF280C 55609 broad.mit.edu 37 X 129370283 129370283 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:129370283A>G uc004evm.3 - 7 879 c.676T>C c.(676-678)Tca>Cca p.S226P ZNF280C_uc010nrf.2_Missense_Mutation_p.S226P NM_017666 NP_060136 Q8ND82 Z280C_HUMAN Homo sapiens zinc finger protein 280C (ZNF280C), mRNA. 226 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TATGGAGATGAGGTATTTGTA 0.318000 71 54 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108112888 108112888 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:108112888G>A uc003dxa.1 - 36 5366 c.5309C>T c.(5308-5310)gCa>gTa p.A1770V NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1770 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTCAATGGCTGCCTTCTTGGC 0.547000 99 58 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36608580 36608580 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:36608580C>T uc003jkj.4 + 1 531 c.55C>T c.(55-57)Cag>Tag p.Q19* SLC1A3_uc021xxn.1_Nonsense_Mutation_p.Q19*|SLC1A3_uc011cox.2_5'UTR|SLC1A3_uc010iuy.3_Nonsense_Mutation_p.Q19* NM_004172 NP_004163 P43003 EAA1_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA. 19 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GGAGAGATTCCAGCAGGGAGT 0.448000 106 74 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117311323 117311323 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:117311323G>A uc001egu.4 + 4 1003 c.974G>A c.(973-975)gGc>gAc p.G325D NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 325 Pro-rich. T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CAGCAGAAAGGCCCGCCCCTC 0.567000 132 78 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671339 39671339 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:39671339A>G uc021wjc.1 + 0 156 c.156A>G c.(154-156)caA>caG p.Q52Q KCNJ15_uc002ywv.3_Silent_p.Q52Q|KCNJ15_uc002yww.3_Silent_p.Q52Q|KCNJ15_uc002ywx.3_Silent_p.Q52Q NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 52 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 TCTACCTGCAAGACCTGTGGA 0.507000 177 13 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237851 56237851 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:56237851G>A uc010rjk.2 - 0 164 c.123C>T c.(121-123)atC>atT p.I41I OR8U8_uc001nit.2_Intron NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA. 41 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) CCATCATGCCGATATTGCCCA 0.438000 110 80 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154558739 154558739 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:154558739G>A uc001ffh.3 - 11 3362 c.3120C>T c.(3118-3120)atC>atT p.I1040I ADAR_uc021pag.1_Silent_p.I745I|ADAR_uc001ffj.3_Silent_p.I995I|ADAR_uc001ffi.3_Silent_p.I1014I|ADAR_uc001ffk.3_Silent_p.I745I NM_001111 NP_001180424 P55265 DSRAD_HUMAN Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA. 1040 A to I editase. 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.K1039R(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) TCCAGCGTAGGATTTTGTCAC 0.552000 87 81 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105176039 105176039 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:105176039C>T uc001ypb.2 + 11 2278 c.2135C>T c.(2134-2136)cCc>cTc p.P712L INF2_uc001ypc.2_Missense_Mutation_p.P712L|INF2_uc010awz.1_Non-coding_Transcript NM_022489 NP_071934 Q27J81 INF2_HUMAN Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA. 712 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm Rho GTPase binding|actin 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) CTGGCCATTCCCTGGTGAGCA 0.652000 96 72 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10298450 10298450 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:10298450C>T uc002gmm.2 - 34 5057 c.4962_splice c.e34+1 p.K1654_splice AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1654 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 ACCCGTTTACCTTCAGGATTC 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 199 139 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33916138 33916138 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:33916138G>A uc001zhi.3 + 19 2558 c.2488G>A c.(2488-2490)Gat>Aat p.D830N RYR3_uc010bar.3_Missense_Mutation_p.D830N NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 830 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R829H(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATATAAACGTGATGCTGATGG 0.478000 146 64 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110790880 110790880 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:110790880T>C uc003hzx.4 + 2 1033 c.840T>C c.(838-840)gaT>gaC p.D280D LRIT3_uc003hzw.4_Silent_p.D142D NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA. 280 Ig-like. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) ACGCTGGGGATTACAAATGTA 0.438000 69 61 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561905 11561905 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:11561905G>A uc001ash.4 + 1 994 c.856G>A c.(856-858)Gag>Aag p.E286K PTCHD2_uc001asi.1_Missense_Mutation_p.E286K NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 286 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity 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) CGGCGACGCGGAGCGCAACAT 0.637000 17 14 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796437 69796437 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:69796437C>T uc003hef.2 - 4 1162 c.1131G>A c.(1129-1131)ggG>ggA p.G377G UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 377 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTTCATAGATCCCATTCATTC 0.393000 35 35 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66102394 66102394 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:66102394G>A uc001dci.3 + 19 3583 c.3194G>A c.(3193-3195)gGa>gAa p.G1065E LEPR_uc009waq.3_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 1065 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AAATTGGAGGGAAATTTCCCT 0.373000 133 77 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304939 10304939 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:10304939G>A uc002gmm.2 - 22 2947 c.2852C>T c.(2851-2853)tCa>tTa p.S951L AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 951 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin 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 CTTGAGTTCTGAACATTCATC 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 307 220 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56073659 56073659 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:56073659C>T uc010giw.1 - 10 2050 c.1939G>A c.(1939-1941)Gaa>Aaa p.E647K CTCFL_uc010gix.1_Missense_Mutation_p.E647K|CTCFL_uc002xym.2_Missense_Mutation_p.E647K|CTCFL_uc010gjb.1_Missense_Mutation_p.E647K|CTCFL_uc010gja.1_Missense_Mutation_p.E597K|CTCFL_uc010gjc.1_Missense_Mutation_p.E647K|CTCFL_uc010gjd.1_Missense_Mutation_p.E647K|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Intron NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 647 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.E646Q(1) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TCATCCACTTCCTCTTTGACT 0.527000 127 91 0 0 1 0 0 OR4D9 390199 broad.mit.edu 37 11 59282982 59282982 + Missense_Mutation SNP G T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:59282982G>T uc010rkv.2 + 0 597 c.597G>T c.(595-597)atG>atT p.M199I NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA. 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 AGCTCCTGATGATTTCAAATA 0.468000 117 113 2.73796e-65 2.77392e-65 1 1 0 ADRA2B 151 broad.mit.edu 37 2 96781075 96781075 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:96781075G>A uc021vlh.1 - 0 814 c.814C>T c.(814-816)Ccc>Tcc p.P272S NM_000682 NP_000673 P18089 ADA2B_HUMAN Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA. 272 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GCCCAACTGGGTGGCAAGGCC 0.617000 20 11 0 0 1 0 0 CMBL 134147 broad.mit.edu 37 5 10282332 10282332 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:10282332C>T uc003jes.3 - 4 986 c.535G>A c.(535-537)Gat>Aat p.D179N NM_138809 NP_620164 Q96DG6 CMBL_HUMAN Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA. 179 cytosol hydrolase activity|protein binding endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1) 13 ATCACAACATCATTTTCAGCA 0.403000 56 47 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145427372 145427372 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:145427372A>C uc003lnt.3 + 5 1335 c.1097A>C c.(1096-1098)cAt>cCt p.H366P SH3RF2_uc011dbl.1_Missense_Mutation_p.H366P|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 366 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTCCAGGACATTCCACAGCC 0.557000 94 62 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28963443 28963443 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:28963443G>A uc003nlu.2 - 6 1847 c.1336C>T c.(1336-1338)Ccc>Tcc p.P446S ZNF311_uc011dlk.1_Missense_Mutation_p.P354S|ZNF311_uc003nlv.2_Missense_Mutation_p.P354S NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN Homo sapiens zinc finger protein 311 (ZNF311), mRNA. 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 CCACACTGGGGACACCCATAG 0.498000 150 60 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113470398 113470398 + Splice_Site SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:113470398T>C uc001vsj.4 + 6 530 c.442_splice c.e6-1 p.V148_splice ATP11A_uc001vsi.4_Splice_Site_p.V148_splice|ATP11A_uc001vsm.1_Splice_Site_p.V24_splice NM_032189 NP_115565 P98196 AT11A_HUMAN Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA. 148 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 p.V148A(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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) all_lung(25;0.134)|all_epithelial(44;0.141) GTCCTGTAGGTTGGGGACATT 0.557000 83 64 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51171035 51171035 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:51171035G>A uc021tif.1 - 2 3994 c.3672C>T c.(3670-3672)atC>atT p.I1224I SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.I173I NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1321 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I1321I(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AACTCGTGACGATCTCCTTGC 0.592000 61 43 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604735 13604735 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:13604735T>C uc003gmz.1 - 9 3906 c.3789A>G c.(3787-3789)gaA>gaG p.E1263E BOD1L1_uc010idr.1_Silent_p.E600E NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 1263 DNA binding GAGCAACATGTTCTTCAGCAG 0.403000 25 13 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158041767 158041767 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:158041767A>G uc003ipj.2 + 2 384 c.182A>G c.(181-183)aAc>aGc p.N61S GLRB_uc021xtp.1_Missense_Mutation_p.N61S|GLRB_uc021xtq.1_Missense_Mutation_p.N61S NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 61 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity p.N61I(2) central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AATATCTTGAACAGGTTATTG 0.358000 138 79 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040339 103040339 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:103040339G>A uc002tbx.3 + 3 623 c.139G>A c.(139-141)Gat>Aat p.D47N IL18RAP_uc010fiz.3_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 47 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CTTATTTTGTGATTTACCAGA 0.398000 33 26 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101188810 101188810 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:101188810T>C uc001dti.3 + 2 796 c.575T>C c.(574-576)gTt>gCt p.V192A VCAM1_uc010ouj.2_Missense_Mutation_p.V130A|VCAM1_uc001dtj.3_Missense_Mutation_p.V192A NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 192 Ig-like C2-type 2. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATTGGAAAAGTTCTTGTTTGC 0.418000 77 49 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513943 99513943 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:99513943C>T uc003dti.1 + 2 1329 c.1201C>T c.(1201-1203)Cct>Tct p.P401S MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P400S|COL8A1_uc003dth.1_Missense_Mutation_p.P400S NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 400 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AATCCCAGGTCCTATGGGCCC 0.612000 16 18 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39008006 39008006 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:39008006G>A uc002oit.3 + 65 9823 c.9693G>A c.(9691-9693)ggG>ggA p.G3231G RYR1_uc002oiu.3_Silent_p.G3231G|RYR1_uc002oiv.1_Silent_p.G151G|RYR1_uc010xuf.1_Silent_p.G151G NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3231 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|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) CAGTCCTGGGGCTCCCCAACA 0.637000 59 58 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94376999 94376999 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:94376999C>T uc011cdt.2 + 10 1990 c.1732C>T c.(1732-1734)Ctt>Ttt p.L578F GRID2_uc011cdu.2_Missense_Mutation_p.L483F NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 578 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGGCACAGTCCTTCTGGTGGG 0.478000 132 104 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642884 104642884 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:104642884G>A uc001yos.4 + 11 3759 c.3759G>A c.(3757-3759)caG>caA p.Q1253Q NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 1253 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GTGATACCCAGGCAGCTTCTG 0.692000 63 54 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 X 129629232 129629232 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:129629232T>A uc010nrh.3 + 0 318 c.100T>A c.(100-102)Tcc>Acc p.S34T BC043223_uc004evu.3_Intron NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA. 34 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) GTGTTATCCTTCCACGACAGC 0.498000 85 59 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48632654 48632654 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:48632654C>T uc002ird.3 + 15 2360 c.2219C>T c.(2218-2220)tCt>tTt p.S740F SPATA20_uc002irc.3_Missense_Mutation_p.S391F|SPATA20_uc002ire.3_Missense_Mutation_p.S680F|SPATA20_uc002irf.3_Missense_Mutation_p.S724F|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 724 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding p.H739Q(1) 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) TGCGTCCACTCTGTCTACATT 0.587000 45 34 0 0 1 0 0 CCRL2 9034 broad.mit.edu 37 3 46449977 46449977 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:46449977G>A uc010hjg.3 + 1 556 c.443G>A c.(442-444)gGa>gAa p.G148E CCRL2_uc003cpp.4_Missense_Mutation_p.G136E|CCRL2_uc010hjf.3_Missense_Mutation_p.G136E|CCRL2_uc021wxc.1_Missense_Mutation_p.G136E NM_001130910 NP_003956 O00421 CCRL2_HUMAN Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA. 136 chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity lung(3)|ovary(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) TTGCACAAGGGAAACTTTTTC 0.468000 23 81 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20696554 20696554 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:20696554G>A uc002dhm.1 - 1 432 c.364C>T c.(364-366)Cct>Tct p.P122S ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P122S NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 122 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CACCACTCAGGAACTCGAGGC 0.587000 100 57 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52928427 52928427 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:52928427G>A uc003gzl.3 + 3 629 c.351G>A c.(349-351)cgG>cgA p.R117R SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.R117R|SPATA18_uc003gzk.1_Silent_p.R117R NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA. 117 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) CCAGTCCTCGGGATCGGGATA 0.393000 119 70 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349588 150349588 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:150349588C>T uc010ntg.2 + 1 1671 c.1533C>T c.(1531-1533)agC>agT p.S511S NM_004224 NP_004215 Q13585 MTR1L_HUMAN Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. 511 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CAGCTACCAGCCATGCTGAGC 0.612000 160 199 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48190730 48190730 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:48190730C>T uc002lev.3 + 1 1402 c.402C>T c.(400-402)ctC>ctT p.L134L MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.L134L NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 134 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) ACCAGCTGCTCCGCGGGCTCA 0.602000 61 55 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42508004 42508004 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:42508004A>G uc002rsi.3 + 6 944 c.682A>G c.(682-684)Aaa>Gaa p.K228E EML4_uc010fap.3_Missense_Mutation_p.K170E NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA. 228 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 AGAATATATTAAAATGTTTAT 0.358000 T ALK NSCLC 26 23 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262668 39262668 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:39262668G>A uc003awl.3 - 4 848 c.785C>T c.(784-786)gCc>gTc p.A262V NM_014292 NP_055107 O95503 CBX6_HUMAN Homo sapiens chromobox homolog 6 (CBX6), mRNA. 262 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GGCGGGGGCGGCCAGAAGTAG 0.741000 3 31 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26864179 26864179 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:26864179C>T uc010crm.3 + 8 1870 c.1672C>T c.(1672-1674)Ccc>Tcc p.P558S FOXN1_uc002hbj.3_Missense_Mutation_p.P558S NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 558 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GGCCCTCGACCCCCTGGTACT 0.602000 116 97 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42330613 42330614 + Missense_Mutation DNP GG AA AA rs150858709 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:42330613_42330614GG>AA uc002igf.4 - 16 2332_2333 c.2183_2184CC>TT c.(2182-2184)acc>aTT p.T728I SLC4A1_uc021tyc.1_Missense_Mutation_p.T362I NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 728 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity p.T728T(2) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CGGAACGCACGGTGGTGGCACT 0.639000 62 52 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34209054 34209054 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:34209054G>A uc001bxm.1 - 13 2177 c.2000C>T c.(1999-2001)cCt>cTt p.P667L CSMD2_uc001bxn.1_Missense_Mutation_p.P627L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 627 CUB 4. 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) ATCAAACTGAGGCTCCACGTC 0.597000 113 74 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159572931 159572931 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:159572931G>A uc003ipz.3 + 17 2261 c.1998G>A c.(1996-1998)gtG>gtA p.V666V RXFP1_uc010iqk.3_Silent_p.V534V|RXFP1_uc011cja.2_Silent_p.V561V|RXFP1_uc010iqo.3_Silent_p.V618V|RXFP1_uc011cjb.2_Silent_p.V564V|RXFP1_uc011cjc.2_Silent_p.V585V|RXFP1_uc011cjd.2_Silent_p.V585V|RXFP1_uc010iql.3_Silent_p.V510V|RXFP1_uc011cje.2_Silent_p.V693V|RXFP1_uc010iqm.3_Silent_p.V633V|RXFP1_uc011cjf.2_Silent_p.V535V|RXFP1_uc010iqn.3_Silent_p.V611V NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 666 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CTTGGGTAGTGATTTTTATTC 0.328000 48 39 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170229 58170229 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:58170229G>A uc010rkf.2 - 0 654 c.654C>T c.(652-654)ttC>ttT p.F218F NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGATAAAAATGAATGTGTAGG 0.398000 37 28 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21141554 21141554 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:21141554C>T uc001iqi.3 - 9 1325 c.928G>A c.(928-930)Gaa>Aaa p.E310K NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 310 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 CCTTTGTTTTCCTCAAAGAGC 0.383000 29 18 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107418389 107418389 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:107418389T>A uc004enw.4 - 29 2993 c.2890A>T c.(2890-2892)Aac>Tac p.N964Y COL4A6_uc004env.4_Missense_Mutation_p.N963Y|COL4A6_uc011msn.2_Missense_Mutation_p.N963Y|COL4A6_uc010npk.3_Missense_Mutation_p.N963Y NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 964 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 AGCCAAAGGTTTGACATTGGA 0.542000 Alport syndrome with Diffuse Leiomyomatosis 223 181 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111342456 111342456 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:111342456G>A uc001trv.1 + 10 1602 c.1407G>A c.(1405-1407)gtG>gtA p.V469V CCDC63_uc010sye.1_Silent_p.V429V|CCDC63_uc001trw.1_Silent_p.V384V NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 469 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TCCTGGAAGTGGAAGGGGCAG 0.577000 102 56 0 0 1 0 0 ELOVL7 79993 broad.mit.edu 37 5 60060118 60060118 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:60060118G>A uc003jsi.4 - 6 635 c.435C>T c.(433-435)ttC>ttT p.F145F ELOVL7_uc011cqo.2_Silent_p.F58F|ELOVL7_uc010iwk.3_Silent_p.F145F|ELOVL7_uc003jsj.4_Silent_p.F132F NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA. 145 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) ATACATGAAGGAAAGTCACTT 0.358000 54 35 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101647 168101647 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:168101647G>A uc002udx.3 + 8 3834 c.3745G>A c.(3745-3747)Gat>Aat p.D1249N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D1074N|XIRP2_uc010fpq.3_Missense_Mutation_p.D1027N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1074 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 CCAACCAATTGATAAGATAAA 0.343000 55 45 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519873 69519873 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:69519873C>T uc021xow.1 - 4 1353 c.1195G>A c.(1195-1197)Gat>Aat p.D399N NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 399 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TCATGTTGATCCGCAAACAAG 0.463000 272 57 0 0 1 0 0 RHEBL1 121268 broad.mit.edu 37 12 49460443 49460443 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:49460443G>A uc001rtc.1 - 3 441 c.234C>T c.(232-234)gtC>gtT p.V78V RHEBL1_uc001rtd.1_Silent_p.V74V|RHEBL1_uc009zlc.1_Non-coding_Transcript NM_144593 NP_653194 Q8TAI7 REBL1_HUMAN Homo sapiens Ras homolog enriched in brain like 1 (RHEBL1), mRNA. 78 TOR signaling cascade|positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|large_intestine(2)|lung(5) 9 CATAACCATGGACCCCAATGA 0.463000 67 48 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61565017 61565017 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:61565017C>T uc010xeu.2 + 5 807 c.474C>T c.(472-474)ttC>ttT p.F158F SERPINB2_uc002ljo.3_Silent_p.F158F|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 158 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CAGTAGACTTCCTAGAATGTG 0.343000 72 32 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38343365 38343365 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:38343365G>A uc010qev.2 + 3 435 c.331G>A c.(331-333)Gaa>Aaa p.E111K ZNF33A_uc001izg.3_Missense_Mutation_p.E105K|ZNF33A_uc001izh.3_Missense_Mutation_p.E104K|ZNF33A_uc001izi.1_Missense_Mutation_p.E105K|ZNF33A_uc021ppe.1_Missense_Mutation_p.E105K NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 104 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 ACATTTGTGGGAAGTTGTATT 0.348000 63 56 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48270008 48270008 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:48270008C>T uc002iqm.3 - 27 2048 c.1922G>A c.(1921-1923)gGa>gAa p.G641E NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 641 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 p.P640P(1)|p.P640T(1) 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) CACCTGGAATCCGGGGGAGCC 0.602000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 149 107 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39342193 39342193 + Splice_Site SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:39342193C>A uc003jlv.4 - 2 272 c.183_splice c.e2+1 p.M61_splice NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 61 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GAACACTTACCATTTGTCTGA 0.493000 81 63 1.17597e-53 1.1903e-53 1 1 0 GPR64 10149 broad.mit.edu 37 X 19014270 19014270 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:19014270C>T uc004cyx.3 - 27 2857 c.2615_splice c.e27-1 p.G872_splice GPR64_uc004cze.3_Splice_Site_p.G842_splice|GPR64_uc004cza.3_Splice_Site_p.G850_splice|GPR64_uc004czf.3_Splice_Site_p.G834_splice|GPR64_uc004cyy.3_Splice_Site_p.G869_splice|GPR64_uc004czc.3_Splice_Site_p.G856_splice|GPR64_uc004cyz.3_Splice_Site_p.G858_splice|GPR64_uc004czb.3_Splice_Site_p.G872_splice|GPR64_uc004czd.3_Splice_Site_p.G848_splice|GPR64_uc004cyw.3_Splice_Site_p.G856_splice|GPR64_uc010nfj.3_Splice_Site_p.G753_splice NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA. 872 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TATGAAAAATCCTAAGGAGGG 0.368000 66 58 0 0 1 0 0 MPP5 64398 broad.mit.edu 37 14 67799544 67799544 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:67799544G>A uc001xjc.3 + 14 2365 c.1899G>A c.(1897-1899)caG>caA p.Q633Q MPP5_uc001xjd.3_Silent_p.Q599Q NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN Homo sapiens membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) (MPP5), mRNA. 633 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) AGATGGAGCAGAACAATGGCC 0.368000 106 3 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171244613 171244613 + Silent SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:171244613T>A uc009wvz.3 + 3 586 c.450T>A c.(448-450)ctT>ctA p.L150L FMO1_uc010pme.2_Silent_p.L87L|FMO1_uc001ghl.3_Silent_p.L150L|FMO1_uc001ghm.3_Silent_p.L150L NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 150 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTGGCTTTCTTACTAATCCTT 0.448000 115 86 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39243877 39243878 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:39243877_39243878CC>TT uc003thb.2 + 3 377_378 c.234_235CC>TT c.(232-237)gaccaa>gaTTaa p.Q79* POU6F2_uc022acb.1_Nonsense_Mutation_p.Q79*|POU6F2_uc010kxo.3_Nonsense_Mutation_p.Q71* NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 79 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GCACTCCTGACCAACACCAGGC 0.495000 54 29 0 0 1 0 0 ENTPD6 955 broad.mit.edu 37 20 25197351 25197351 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:25197351C>T uc002wuj.2 + 7 957 c.777C>T c.(775-777)atC>atT p.I259I ENTPD6_uc010zsy.1_Silent_p.I259I|ENTPD6_uc010gdj.1_Silent_p.I231I|ENTPD6_uc002wum.2_Silent_p.I242I|ENTPD6_uc010zta.1_Silent_p.I259I|ENTPD6_uc002wuk.2_Silent_p.I258I|ENTPD6_uc002wul.2_Silent_p.I258I|ENTPD6_uc010ztb.1_Silent_p.I231I|ENTPD6_uc010ztc.1_Silent_p.I231I|ENTPD6_uc002wuo.2_Silent_p.I11I|ENTPD6_uc010zsz.1_Silent_p.I41I|ENTPD6_uc010ztd.1_Silent_p.I41I NM_001247 NP_001238 O75354 ENTP6_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA. 259 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CCACTCAGATCGCCTTCCTGC 0.642000 16 11 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113563001 113563001 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:113563001G>A uc003ynu.3 - 26 4622 c.4463C>T c.(4462-4464)tCt>tTt p.S1488F CSMD3_uc003yns.3_Missense_Mutation_p.S760F|CSMD3_uc003ynt.3_Missense_Mutation_p.S1448F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1384F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1488 CUB 8. integral to membrane|plasma membrane p.G1487V(1) 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 AGGAATAAGAGATCCACTAAT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 104 35 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10169537 10169537 + RNA SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:10169537C>T uc010dwx.2 + 17 c.2172C>T Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA. endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 GAGAAAACTTCCCGACATTCA 0.572000 75 68 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220494117 220494117 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:220494117C>T uc002vmo.4 + 3 678 c.469C>T c.(469-471)Cac>Tac p.H157Y SLC4A3_uc002vmn.2_Missense_Mutation_p.H157Y|SLC4A3_uc002vmp.4_Missense_Mutation_p.H157Y|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'Flank NM_201574 NP_963868 P48751 B3A3_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA. 157 Pro-rich. H -> P (in dbSNP:rs597306). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGCCCCCCCACTCAGGGAC 0.627000 6 6 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25766040 25766040 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:25766040G>A uc003xes.2 - 6 848 c.583C>T c.(583-585)Cag>Tag p.Q195* DOCK5_uc003xek.3_Intron NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 195 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AAACAATTCTGATTGCACTTG 0.378000 8 29 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53086575 53086575 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:53086575C>T uc001saw.3 - 5 1199 c.1170G>A c.(1168-1170)caG>caA p.Q390Q KRT77_uc009zmi.3_Silent_p.Q148Q NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN Homo sapiens keratin 77 (KRT77), mRNA. 390 Coil 2.|Rod. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCTGCAGCCTCTGGACGGTGC 0.592000 66 43 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126136 8126136 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:8126136C>T uc003srk.3 + 7 2171 c.1612C>T c.(1612-1614)Cac>Tac p.H538Y NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA. 538 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GGGTGAGGACCACATCTCTGC 0.542000 135 103 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111893168 111893168 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:111893168T>C uc001kyu.3 + 14 2069 c.1913T>C c.(1912-1914)gTt>gCt p.V638A ADD3_uc001kyt.4_Missense_Mutation_p.V638A|ADD3_uc001kys.4_Missense_Mutation_p.V606A|ADD3_uc001kyv.3_Missense_Mutation_p.V638A|ADD3_uc001kyw.3_Missense_Mutation_p.V606A|ADD3_uc001kyx.3_Missense_Mutation_p.V211A NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA. 638 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) ATGCATGATGTTGAAGATGAG 0.423000 27 114 0 0 1 0 0 GNB2L1 10399 broad.mit.edu 37 5 180665212 180665212 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:180665212T>C uc003mni.1 - 5 770 c.664A>G c.(664-666)Aac>Gac p.N222D GNB2L1_uc003mnj.1_Missense_Mutation_p.N176D|GNB2L1_uc011dhk.1_3'UTR NM_006098 NP_006089 P63244 GBLP_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA. 222 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) TTGCCTTCGTTGAGATCCCAT 0.527000 121 112 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77666801 77666801 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:77666801C>T uc011bgk.2 + 22 4086 c.3443C>T c.(3442-3444)tCc>tTc p.S1148F ROBO2_uc021xat.1_Missense_Mutation_p.S1160F|ROBO2_uc003dpy.4_Missense_Mutation_p.S1144F|ROBO2_uc003dpz.3_Missense_Mutation_p.S1148F|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.S271F NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1144 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 p.Q1147H(1) 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) CCTGCTATCTCCTTTGGACAG 0.512000 84 57 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4789836 4789836 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:4789836C>T uc010vsl.2 + 9 1108 c.864C>T c.(862-864)ttC>ttT p.F288F MINK1_uc010vsk.2_Silent_p.F288F|MINK1_uc010vsm.2_Silent_p.F288F|MINK1_uc010vsn.2_Silent_p.F288F|MINK1_uc010vso.2_Silent_p.F233F|MINK1_uc010vsp.2_5'UTR NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 288 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 AGTTTCCCTTCATCCGGGACC 0.557000 108 81 0 0 1 0 0 H1FOO 132243 broad.mit.edu 37 3 129267943 129267943 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:129267943C>T uc003emu.3 + 2 483 c.478C>T c.(478-480)Cca>Tca p.P160S H1FOO_uc003emv.3_Missense_Mutation_p.P21S NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA. 160 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CCCCAAGAAACCAAGTGAGGC 0.617000 11 5 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70514088 70514088 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:70514088C>T uc004dzo.3 + 5 1070 c.360C>T c.(358-360)acC>acT p.T120T BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Silent_p.T120T|NONO_uc004dzp.3_Silent_p.T120T|NONO_uc011mpv.2_Silent_p.T31T|NONO_uc004dzq.3_5'UTR NM_001145408 NP_001138882 Q15233 NONO_HUMAN Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA. 120 DBHS.|RRM 1. DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|RNA binding|identical protein binding|nucleotide binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AAACCCGAACCCTAGCGGAGA 0.473000 T TFE3 papillary renal cancer 72 42 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764324 77764324 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:77764324C>T uc003yau.2 + 9 5554 c.5167C>T c.(5167-5169)Cct>Tct p.P1723S ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1678 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1723T(2) 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) GCCTCATTTTCCTATGACCCC 0.473000 HNSCC(33;0.089) 113 39 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81207634 81207634 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:81207634G>A uc003hmd.3 + 2 852 c.615G>A c.(613-615)cgG>cgA p.R205R FGF5_uc003hme.3_3'UTR NM_004464 NP_004455 P12034 FGF5_HUMAN Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA. 205 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity p.R205Q(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GCAGCCCCCGGGTTAAACCCC 0.473000 82 64 0 0 1 0 0 BPHL 670 broad.mit.edu 37 6 3137609 3137609 + Silent SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:3137609T>A uc003mva.3 + 4 595 c.546T>A c.(544-546)gtT>gtA p.V182V BPHL_uc003muz.3_Non-coding_Transcript|BPHL_uc011dht.2_Non-coding_Transcript|BPHL_uc003muy.3_Silent_p.V165V NM_004332 NP_004323 Q86WA6 BPHL_HUMAN Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA. 182 V -> R (in Ref. 6; CAA40859). cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) TCCGAGATGTTTCCAAATGGA 0.418000 225 102 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25925026 25925026 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:25925026G>A uc010ayu.3 - 20 4068 c.3962C>T c.(3961-3963)cCc>cTc p.P1321L NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 1321 ATP biosynthetic process|regulation of cell shape 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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGTCTCTTTGGGAGCACTGCA 0.572000 114 85 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545171 82545171 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:82545171C>T uc003uhx.2 - 6 12420 c.12131G>A c.(12130-12132)cGa>cAa p.R4044Q PCLO_uc003uhv.2_Missense_Mutation_p.R4044Q|PCLO_uc010lec.3_Missense_Mutation_p.R1009Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3975 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R4044Q(3) 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 GACATAATTTCGTGGAGTATG 0.408000 29 15 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41863308 41863308 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:41863308T>G uc001zof.2 + 12 1888 c.1652T>G c.(1651-1653)aTg>aGg p.M551R NM_006293 NP_006284 Q06418 TYRO3_HUMAN Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA. 551 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCTGTGAAGATGCTGAAAGGT 0.542000 105 104 0 0 1 0 0 LHFPL4 375323 broad.mit.edu 37 3 9594070 9594070 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:9594070G>A uc003bry.3 - 1 580 c.294C>T c.(292-294)ttC>ttT p.F98F NM_198560 NP_940962 Q7Z7J7 LHPL4_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA. 98 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) AGAGCAGCACGAAGAAGGCGG 0.637000 5 33 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600837 29600837 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:29600837C>T uc001usl.4 + 0 2090 c.2032C>T c.(2032-2034)Cca>Tca p.P678S NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 668 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGTGGGGCTTCCATATGCCCC 0.592000 32 22 0 0 1 0 0 SLC30A4 7782 broad.mit.edu 37 15 45779808 45779808 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:45779808G>A uc001zvj.3 - 5 1229 c.917C>T c.(916-918)cCc>cTc p.P306L NM_013309 NP_037441 O14863 ZNT4_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA. 306 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TGTACAGATGGGGTCAGCAAT 0.318000 63 68 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156315 150156315 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:150156315G>A uc004fep.3 + 4 623 c.531G>A c.(529-531)cgG>cgA p.R177R HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.R177R NM_005342 NP_005333 O15347 HMGB3_HUMAN Homo sapiens high mobility group box 3 (HMGB3), mRNA. 177 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) AAGTTGCCCGGAAAAaggtgg 0.448000 57 48 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366629 40366629 + Silent SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:40366629T>G uc002rrx.3 - 8 2481 c.2457A>C c.(2455-2457)ggA>ggC p.G819G LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.G814G|SLC8A1_uc002rsb.2_Silent_p.G811G|SLC8A1_uc002rrz.3_Silent_p.G806G|SLC8A1_uc002rsa.3_Silent_p.G783G|SLC8A1_uc002rsd.4_Silent_p.G783G NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 819 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAGCCAGGTCTCCAATGAAAG 0.507000 39 27 0 0 1 0 0 LOC392232 392232 broad.mit.edu 37 8 73157235 73157235 + RNA SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:73157235C>T uc022avu.1 - 2 c.367G>A Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA. AGGGCTATTCCATAATCATCC 0.398000 25 11 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946437 16946437 + RNA SNP C T T rs2262202 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:16946437C>T uc010ocf.2 - 2 c.461G>A CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. AGCCTTCCGCCGGGCCAGCAG 0.672000 46 7 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71188216 71188216 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:71188216C>T uc010ukf.2 + 2 455 c.149C>T c.(148-150)tCg>tTg p.S50L LRRC49_uc002asu.3_Missense_Mutation_p.S35L|LRRC49_uc002asx.3_5'UTR|LRRC49_uc002asw.3_Missense_Mutation_p.S45L|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_5'UTR NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 45 cytoplasm|microtubule p.S45L(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 AAAGACACATCGTCATTCCCC 0.323000 63 16 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41089548 41089548 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:41089548C>T uc002oob.3 + 11 1139 c.1090C>T c.(1090-1092)Ctt>Ttt p.L364F SHKBP1_uc002ooc.3_Missense_Mutation_p.L339F|SHKBP1_uc010xvl.1_Missense_Mutation_p.L287F|SHKBP1_uc002ooe.3_Missense_Mutation_p.L201F|SHKBP1_uc010xvm.2_Missense_Mutation_p.L201F|SHKBP1_uc010xvn.2_Missense_Mutation_p.L242F NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA. 364 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAACGACCTCCTTGTCAGCGA 0.617000 173 118 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644259 20644259 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:20644259C>T uc001ytg.3 - 21 3324 c.2615G>A c.(2614-2616)tGg>tAg p.W872* HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Nonsense_Mutation_p.W872* Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GAGCCCATTCCACTGAGTCAG 0.607000 47 37 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886412 24886412 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:24886412G>A uc001wpf.4 + 8 5775 c.5457G>A c.(5455-5457)cgG>cgA p.R1819R NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1819 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GTTTCAAGCGGGAGAGCCAGG 0.592000 76 39 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926975 130926975 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:130926975C>T uc001uil.2 - 7 1087 c.871G>A c.(871-873)Gac>Aac p.D291N RIMBP2_uc001uim.3_Missense_Mutation_p.D199N NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 291 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) TCTCCGATGTCGTCGATGTTC 0.587000 127 128 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128641929 128641929 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:128641929C>T uc011muk.1 - 6 1068 c.955G>A c.(955-957)Gaa>Aaa p.E319K SMARCA1_uc004eun.4_Missense_Mutation_p.E319K|SMARCA1_uc004eup.4_Missense_Mutation_p.E319K|SMARCA1_uc011mul.1_Missense_Mutation_p.E319K NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 319 Helicase ATP-binding. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTAGATTTTTCATTCTTTATT 0.289000 36 23 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769966 112769966 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:112769966G>A uc003kqm.2 - 0 763 c.571C>T c.(571-573)Ccc>Tcc p.P191S MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 191 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GGCTGGTAGGGAATGCCCTGC 0.577000 34 29 0 0 1 0 0 SLC1A2 6506 broad.mit.edu 37 11 35338930 35338930 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:35338930C>T uc001mwd.3 - 1 743 c.151G>A c.(151-153)Gtg>Atg p.V51M SLC1A2_uc021qfx.1_Missense_Mutation_p.V42M|SLC1A2_uc001mwe.3_Missense_Mutation_p.V42M|SLC1A2_uc010rev.1_Missense_Mutation_p.V51M|SLC1A2_uc021qfy.1_Missense_Mutation_p.V96M NM_004171 NP_001239581 P43004 EAA2_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA. 51 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) CTACCAAACACCGTCAGGGTG 0.622000 42 25 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210334237 210334237 + Nonsense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:210334237T>A uc001hhs.4 + 9 1768 c.1710T>A c.(1708-1710)taT>taA p.Y570* SYT14_uc001hht.4_Nonsense_Mutation_p.Y525*|SYT14_uc010psn.2_Nonsense_Mutation_p.Y551*|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Nonsense_Mutation_p.Y468*|SYT14_uc009xcv.3_Nonsense_Mutation_p.Y506*|SYT14_uc010psp.2_Nonsense_Mutation_p.Y44* NM_001146261 NP_001139733 Q8NB59 SYT14_HUMAN Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA. 506 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TGTCTGTGTATAACAAACGCA 0.418000 197 76 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47251946 47251946 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:47251946G>A uc003oyv.3 - 2 1404 c.971C>T c.(970-972)tCc>tTc p.S324F NM_014452 NP_055267 O75509 TNR21_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA. 324 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) GGGCGTGCTGGACTTCTCGCC 0.557000 270 101 0 0 1 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482823 152482823 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:152482823G>A uc022chs.1 - 0 188 c.188C>T c.(187-189)gCc>gTc p.A63V MAGEA1_uc004fhf.2_Missense_Mutation_p.A63V NM_004988 NP_004979 P43355 MAGA1_HUMAN Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA. 63 A -> T (in dbSNP:rs2233044). cytoplasm|plasma membrane p.A63P(1) 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) AGTGGGAAAGGCGGAGGCTCC 0.622000 131 86 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56388294 56388294 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:56388294G>A uc002ivx.4 - 18 4233 c.3362C>T c.(3361-3363)cCc>cTc p.P1121L BZRAP1_uc010dcs.3_Missense_Mutation_p.P1061L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1121L NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1121 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) AGTTCCAAGGGGAGCAGGGTG 0.657000 15 9 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851361 43851361 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:43851361A>C uc010ggz.3 + 1 1145 c.1088A>C c.(1087-1089)aAg>aCg p.K363T SEMG2_uc002xnk.3_Missense_Mutation_p.K363T|SEMG2_uc002xnl.3_Missense_Mutation_p.K363T NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. 363 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TGTGGAGAAAAGGGCATCCAG 0.383000 58 51 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92734352 92734352 + Silent SNP C T T rs145911444 byFrequency TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:92734352C>T uc003umf.3 - 2 1329 c.1059G>A c.(1057-1059)acG>acA p.T353T SAMD9_uc003umg.3_Silent_p.T353T|SAMD9_uc022ahg.1_Silent_p.T353T NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 353 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTTATTTTTCGTAATGTCCT 0.318000 61 36 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157031522 157031522 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:157031522G>A uc003fbj.2 - 10 2317 c.1898C>T c.(1897-1899)tCc>tTc p.S633F VEPH1_uc003fbk.2_Missense_Mutation_p.S633F|VEPH1_uc010hvu.2_Intron NM_024621 NP_078897 Q14D04 MELT_HUMAN Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA. 633 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACTCTGAATGGACAGGGGTTC 0.458000 87 53 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170077059 170077059 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:170077059G>C uc002ues.3 - 33 5766 c.5553C>G c.(5551-5553)caC>caG p.H1851Q NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1851 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity p.H1851Y(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGATATCTCCGTGGAGTGTCA 0.403000 26 16 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117815030 117815030 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:117815030C>T uc004eqp.2 + 49 5744 c.5681C>T c.(5680-5682)tCg>tTg p.S1894L DOCK11_uc004eqq.2_Missense_Mutation_p.S1673L NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1894 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 GCTTCAAACTCGTTTCCTTAC 0.299000 85 45 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123742432 123742432 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:123742432G>A uc004bkv.3 - 27 3617 c.3587C>T c.(3586-3588)tCc>tTc p.S1196F NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1196 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ATCTCCCAGGGAAAGAGCATA 0.403000 15 62 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45869047 45869047 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:45869047G>A uc010rgn.2 + 0 91 c.69G>A c.(67-69)gcG>gcA p.A23A CRY2_uc009ykw.3_Intron NM_021117 NP_066940 Q49AN0 CRY2_HUMAN Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA. 2 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 CAGTCATggcggcgactgtgg 0.721000 14 20 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65448155 65448155 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:65448155G>A uc002aom.3 - 9 1258 c.1186C>T c.(1186-1188)Cca>Tca p.P396S CLPX_uc010uiu.2_Non-coding_Transcript NM_006660 NP_006651 O76031 CLPX_HUMAN Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA. 396 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 TTCTTTTCTGGAACATTGACT 0.338000 83 56 0 0 1 0 0 PRSS21 10942 broad.mit.edu 37 16 2870993 2870993 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:2870993C>T uc002crt.3 + 4 694 c.588C>T c.(586-588)gtC>gtT p.V196V PRSS21_uc002crr.3_Silent_p.V196V|PRSS21_uc002crs.3_Silent_p.V194V NM_006799 NP_006790 Q9Y6M0 TEST_HUMAN Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA. 196 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 AAGTTCAGGTCGCCATCATAA 0.547000 304 236 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36230727 36230727 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:36230727C>T uc003gsq.2 - 1 720 c.382G>A c.(382-384)Gaa>Aaa p.E128K ARAP2_uc003gsr.1_Missense_Mutation_p.E128K NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 128 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 TCACTGTCTTCAAGATTTTTT 0.448000 71 53 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49013730 49013730 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:49013730C>T uc002pjk.3 - 2 283 c.283G>A c.(283-285)Gat>Aat p.D95N NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. 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) AAGCCGACATCGCCCCGTTTG 0.602000 9 9 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132349375 132349375 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:132349375G>A uc003eov.4 - 6 1249 c.869C>T c.(868-870)tCa>tTa p.S290L NM_032169 NP_115545 Q7Z494 NPHP3_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA. 0 Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCAATATATTGAAATCAGTTC 0.323000 40 31 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120673835 120673835 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:120673835C>T uc003eec.4 + 2 378 c.238C>T c.(238-240)Cca>Tca p.P80S STXBP5L_uc011bji.2_Missense_Mutation_p.P80S NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 80 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) AGCCTTTGATCCAGTTCAGAA 0.378000 69 47 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43321188 43321188 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:43321188C>T uc002iin.3 + 17 2444 c.2244C>T c.(2242-2244)ttC>ttT p.F748F FMNL1_uc002iiq.3_Silent_p.F326F|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.F75F NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 748 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GCCTGGACTTCCTGGAGCTGC 0.632000 36 26 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049375 175049375 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:175049375G>A uc001gkl.1 + 3 974 c.861G>A c.(859-861)caG>caA p.Q287Q TNN_uc010pmx.1_Silent_p.Q287Q NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 287 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) CCTCCAGCCAGGTGGATCACT 0.592000 60 31 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55396831 55396831 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:55396831C>T uc002qhr.1 + 2 452 c.255C>T c.(253-255)ttC>ttT p.F85F FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Silent_p.F85F|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.F58F|FCAR_uc010esi.1_Silent_p.F58F|FCAR_uc002qhu.1_Silent_p.F85F|FCAR_uc002qhv.1_Silent_p.F85F|FCAR_uc002qhw.1_Silent_p.F73F|FCAR_uc002qhx.1_Silent_p.F73F|FCAR_uc002qhy.1_Silent_p.F73F|FCAR_uc002qhz.1_Silent_p.F73F|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 85 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) ATCCTGAGTTCGTCATTGACC 0.488000 59 45 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179555479 179555479 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:179555479G>A uc003mlq.3 - 3 867 c.570C>T c.(568-570)atC>atT p.I190I RASGEF1C_uc003mlr.3_Silent_p.I190I|RASGEF1C_uc003mlp.4_Silent_p.I39I NM_175062 NP_778232 Q8N431 RGF1C_HUMAN Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA. 190 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-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;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTCCCTGTGGATGGAGGCTG 0.647000 80 58 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585756 7585756 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:7585756G>A uc003mxp.1 + 23 8540 c.8261G>A c.(8260-8262)gGg>gAg p.G2754E DSP_uc003mxq.1_Missense_Mutation_p.G2155E|DSP_uc021yle.1_Missense_Mutation_p.G2311E NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2754 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) ATCCGGAAGGGGTTCATAGAT 0.542000 109 53 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23708982 23708982 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:23708982G>A uc003xdw.1 - 2 608 c.324C>T c.(322-324)ttC>ttT p.F108F NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 108 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GAATGGCGAGGAAGACCTTGG 0.527000 10 49 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461483 76461483 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:76461483C>T uc002fex.1 + 2 673 c.534C>T c.(532-534)ttC>ttT p.F178F CNTNAP4_uc002feu.1_Silent_p.F174F|CNTNAP4_uc002fev.1_Silent_p.F87F|CNTNAP4_uc010chb.1_Silent_p.F150F|CNTNAP4_uc002few.2_Silent_p.F150F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 175 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TCGAAGTGTTCGGATGTGCAT 0.393000 30 18 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115401232 115401232 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:115401232G>A uc001efr.3 + 5 565 c.356G>A c.(355-357)tGg>tAg p.W119* SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Nonsense_Mutation_p.W119*|SYCP1_uc009wgw.3_Nonsense_Mutation_p.W119* NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 119 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAAAAAATGGAAAGTAAGT 0.328000 70 41 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50882336 50882336 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:50882336C>T uc010enw.3 + 6 1294 c.825C>T c.(823-825)atC>atT p.I275I NR1H2_uc002prv.4_Intron|NR1H2_uc002psa.4_Silent_p.I178I NM_007121 NP_009052 P55055 NR1H2_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA. 275 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) AGCTGGCCATCATCTCAGTCC 0.642000 115 127 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140630564 140630564 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:140630564G>A uc003yvf.1 - 1 1126 c.1062C>T c.(1060-1062)atC>atT p.I354I KCNK9_uc003yvg.1_Silent_p.I354I|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 354 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) ACCCAGGAGAGATGGAGCTAA 0.502000 128 174 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531060 42531060 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:42531060G>A uc010dni.3 + 3 2051 c.1755G>A c.(1753-1755)aaG>aaA p.K585K NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 585 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAGTCAAAAAGAAGCGGGGAC 0.537000 Schinzel-Giedion syndrome 105 75 0 0 1 0 0 LOC100288778 100288778 broad.mit.edu 37 12 88651 88651 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:88651A>G uc010scy.2 + 5 715 c.160A>G c.(160-162)Agc>Ggc p.S54G LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdb.1_Non-coding_Transcript|LOC100288778_uc010sdc.1_Non-coding_Transcript|LOC100288778_uc010sdd.2_Missense_Mutation_p.S54G|LOC100288778_uc010sde.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdf.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdg.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdh.2_Non-coding_Transcript Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA. TGACCTGCCCAGCATTGCCAA 0.587000 49 3 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77332334 77332334 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:77332334C>T uc001xsx.2 + 11 1389 c.1275C>T c.(1273-1275)atC>atT p.I425I C14orf166B_uc010asn.1_Silent_p.I185I|C14orf166B_uc001xsw.2_Non-coding_Transcript NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA. 425 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AACACAAAATCACGATCGTGG 0.502000 15 6 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77910323 77910323 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:77910323G>A uc002ffg.1 + 4 876 c.779G>A c.(778-780)gGa>gAa p.G260E NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 260 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 GACAACACTGGAAAAGGTCTC 0.463000 146 95 0 0 1 0 0 L32131 0 broad.mit.edu 37 17 58511558 58511558 + RNA SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:58511558C>T uc002iyr.1 - 0 c.1800G>A Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. TCGTTGGGGTCGAACTTTGGC 0.577000 16 9 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142651298 142651298 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:142651298G>A uc003wcb.3 - 7 1107 c.897C>T c.(895-897)ttC>ttT p.F299F NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 299 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TGACCATCTGGAAGAGCTTGC 0.552000 24 22 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219018 134219018 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:134219018C>T uc001lll.4 + 1 1043 c.1014C>T c.(1012-1014)caC>caT p.H338H PWWP2B_uc009ybe.3_Silent_p.H338H NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA. 338 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) TGAAGCCCCACCGTCTGGGGG 0.726000 13 29 0 0 1 0 0 WNT8B 7479 broad.mit.edu 37 10 102242085 102242085 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:102242085A>C uc001krb.3 + 5 682 c.568A>C c.(568-570)Acc>Ccc p.T190P NM_003393 NP_003384 Q93098 WNT8B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA. 190 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) TGGCAGCTGCACCACGCAGAC 0.647000 OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 25 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437341 120437341 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:120437341C>T uc001eij.3 - 0 1807 c.1619G>A c.(1618-1620)gGa>gAa p.G540E NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 540 Cys-rich. 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) ATTTCGAATTCCTGTAATCTC 0.393000 62 51 0 0 1 0 0 GSTA1 2938 broad.mit.edu 37 6 52657657 52657657 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:52657657C>T uc003paz.3 - 5 655 c.543G>A c.(541-543)ctG>ctA p.L181L GSTA1_uc021zan.1_Silent_p.L181L NM_145740 NP_665683 P08263 GSTA1_HUMAN Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA. 181 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GGGTCACCTTCAGCAGAGGGA 0.542000 269 114 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40241392 40241392 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:40241392C>T uc001zkm.1 + 3 486 c.436C>T c.(436-438)Cat>Tat p.H146Y EIF2AK4_uc001zkl.3_Missense_Mutation_p.H146Y NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA. 146 translation cytosolic ribosome ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CAAGTCTTTTCATGAAGAAAT 0.498000 99 96 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36722679 36722679 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:36722679C>T uc003apg.3 - 4 777 c.546G>A c.(544-546)gaG>gaA p.E182E MYH9_uc003aph.1_Silent_p.E46E|MYH9_uc003api.1_Silent_p.E182E NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 182 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCTTGGTGTTCTCCGTCTTGC 0.587000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 29 164 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67410242 67410242 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:67410242C>T uc001omq.3 - 7 1084 c.913G>A c.(913-915)Gtg>Atg p.V305M NM_080658 NP_542389 Q96HD9 ACY3_HUMAN Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA. 305 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) ATGGCAGGCACGGTGAATGTG 0.577000 113 89 0 0 1 0 0 GNAI3 2773 broad.mit.edu 37 1 110091367 110091367 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:110091367G>A uc001dxz.2 + 0 182 c.25G>A c.(25-27)Gac>Aac p.D9N NM_006496 NP_006487 P08754 GNAI3_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA. 9 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) GAGCGCCGAAGACAAGGCGGC 0.647000 24 11 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739279 55739279 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:55739279A>G uc003pcq.3 - 0 1097 c.385T>C c.(385-387)Tta>Cta p.L129L BMP5_uc011dxf.2_Silent_p.L129L NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 129 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GTCCGAGATAACTGTATGCGA 0.522000 118 58 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15067485 15067485 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:15067485C>T uc002naa.1 - 5 979 c.972G>A c.(970-972)ggG>ggA p.G324G SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.G260G NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 324 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CCAGAATCTTCCCAGCAATCA 0.597000 83 41 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154561270 154561270 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:154561270C>T uc003wlk.3 + 8 1156 c.1027C>T c.(1027-1029)Cac>Tac p.H343Y DPP6_uc003wli.3_Missense_Mutation_p.H279Y|DPP6_uc003wlm.3_Missense_Mutation_p.H281Y|DPP6_uc011kvq.2_Missense_Mutation_p.H236Y NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 343 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.I343V(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAAGCCCTACCACTATCCCAA 0.537000 17 9 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30702970 30702970 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:30702970T>A uc003xil.3 - 0 3564 c.3564A>T c.(3562-3564)gaA>gaT p.E1188D NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1188 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CAATTTGATTTTCTTTTTCTA 0.313000 8 14 0 0 1 0 0 TBPL2 387332 broad.mit.edu 37 14 55903566 55903566 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:55903566G>A uc001xby.3 - 1 321 c.321C>T c.(319-321)acC>acT p.T107T NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA. 107 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 TATTTTCCTGGGTAACTTCAT 0.428000 61 29 0 0 1 0 0 PUS10 150962 broad.mit.edu 37 2 61238962 61238962 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:61238962G>A uc010fci.3 - 1 124 c.64C>T c.(64-66)Cca>Tca p.P22S PUS10_uc002sao.3_Missense_Mutation_p.P22S|PUS10_uc010ypk.2_5'UTR|PUS10_uc002sap.1_Non-coding_Transcript|PUS10_uc002saq.1_Non-coding_Transcript NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA. 22 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) ATACATCTTGGACAAGTACCA 0.328000 48 29 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919060 52919060 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:52919060C>T uc002pzh.3 + 6 1381 c.955C>T c.(955-957)Cat>Tat p.H319Y ZNF528_uc002pzi.3_Missense_Mutation_p.H86Y NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN Homo sapiens zinc finger protein 528 (ZNF528), mRNA. 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAAAAAATTCATACTGGAGA 0.378000 60 36 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146256182 146256182 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:146256182T>C uc003qlf.3 - 12 3250 c.2851A>G c.(2851-2853)Aag>Gag p.K951E SHPRH_uc003qle.3_Missense_Mutation_p.K951E|SHPRH_uc003qlg.1_Missense_Mutation_p.K507E|SHPRH_uc003qlj.1_Missense_Mutation_p.K840E|SHPRH_uc003qlh.3_5'Flank NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 951 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TCAGAAATCTTCCTGAGTTTT 0.512000 17 43 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564602 176564602 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:176564602G>A uc001gkz.3 + 2 3026 c.1862G>A c.(1861-1863)tGg>tAg p.W621* PAPPA2_uc001gky.1_Nonsense_Mutation_p.W621*|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 621 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.W621*(1)|p.S620F(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGCTACTCCTGGAACCGCAGG 0.602000 64 35 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92734676 92734676 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:92734676C>T uc003umf.3 - 2 1005 c.735G>A c.(733-735)ggG>ggA p.G245G SAMD9_uc003umg.3_Silent_p.G245G|SAMD9_uc022ahg.1_Silent_p.G245G NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 245 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CAACAATTTTCCCATGGGGTT 0.378000 122 62 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8465627 8465627 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:8465627C>T uc003zkk.3 - 31 4296 c.3553G>A c.(3553-3555)Gaa>Aaa p.E1185K PTPRD_uc003zkp.3_Missense_Mutation_p.E774K|PTPRD_uc003zkq.3_Missense_Mutation_p.E774K|PTPRD_uc003zkr.3_Missense_Mutation_p.E769K|PTPRD_uc003zks.3_Missense_Mutation_p.E764K|PTPRD_uc022bdj.1_Missense_Mutation_p.E771K NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1185 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATTCAACTTCTCTCCCATAA 0.418000 TSP Lung(15;0.13) 17 45 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732610 92732610 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:92732610G>A uc003umf.3 - 2 3071 c.2801C>T c.(2800-2802)tCa>tTa p.S934L SAMD9_uc003umg.3_Missense_Mutation_p.S934L|SAMD9_uc022ahg.1_Missense_Mutation_p.S934L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 934 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGTGATAGTGAAATGGTGGT 0.398000 21 13 0 0 1 0 0 INSM2 84684 broad.mit.edu 37 14 36004978 36004978 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:36004978C>T uc001wth.1 + 0 1731 c.1520C>T c.(1519-1521)cCt>cTt p.P507L NM_032594 NP_115983 Q96T92 INSM2_HUMAN Homo sapiens insulinoma-associated 2 (INSM2), mRNA. 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) GCGGGGGCTCCTCCCGAAACG 0.627000 21 16 0 0 1 0 0 GAB3 139716 broad.mit.edu 37 X 153944425 153944425 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:153944425G>A uc004fmk.1 - 1 300 c.252C>T c.(250-252)ttC>ttT p.F84F GAB3_uc004fmj.1_Silent_p.F84F|GAB3_uc010nve.1_Silent_p.F84F|GAB3_uc004fml.1_5'UTR NM_001081573 NP_001075042 Q8WWW8 GAB3_HUMAN Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA. 84 PH. NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAATGAACACGAAATTATTCT 0.512000 233 152 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433974 179433974 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:179433974C>T uc021vsy.1 - 274 69406 c.69181G>A c.(69181-69183)Ggg>Agg p.G23061R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16756R|TTN_uc021vta.1_Missense_Mutation_p.G16689R|TTN_uc021vtb.1_Missense_Mutation_p.G16564R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23988 Fibronectin type-III 67. 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) TTGGATCCCCCATCCAACAAA 0.393000 207 125 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55889910 55889910 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55889910C>T uc001nii.1 + 0 62 c.62C>T c.(61-63)tCt>tTt p.S21F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 21 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) CTGTCAGACTCTGAAGAGGTC 0.443000 163 121 0 0 1 0 0 FAM3A 60343 broad.mit.edu 37 X 153735629 153735629 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:153735629C>T uc004flt.2 - 8 1070 c.544G>A c.(544-546)Gag>Aag p.E182K FAM3A_uc011mzp.2_Missense_Mutation_p.E151K|FAM3A_uc022cih.1_Missense_Mutation_p.E130K|FAM3A_uc004flw.2_Missense_Mutation_p.E168K|FAM3A_uc004fls.2_Missense_Mutation_p.E168K NM_001171133 NP_001164604 P98173 FAM3A_HUMAN Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA. 168 extracellular region kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCCCAGCTCACTGAAGAGC 0.597000 50 27 0 0 1 0 0 FGF19 9965 broad.mit.edu 37 11 69514186 69514186 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:69514186G>A uc001opf.3 - 2 957 c.495C>T c.(493-495)ttC>ttT p.F165F NM_005117 NP_005108 O95750 FGF19_HUMAN Homo sapiens fibroblast growth factor 19 (FGF19), mRNA. 165 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GCATGGGCAGGAAATGAGAGA 0.587000 117 66 0 0 1 0 0 RBMS1 5937 broad.mit.edu 37 2 161143509 161143509 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:161143509G>C uc002ubo.3 - 6 1171 c.727C>G c.(727-729)Cca>Gca p.P243A RBMS1_uc002ubn.3_Missense_Mutation_p.P243A|RBMS1_uc002ubi.4_Missense_Mutation_p.P243A|RBMS1_uc002ubm.3_Missense_Mutation_p.P210A|RBMS1_uc002ubp.3_Missense_Mutation_p.P243A|RBMS1_uc010fox.2_Missense_Mutation_p.P243A NM_016836 NP_058520 P29558 RBMS1_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA. 243 DNA replication|RNA processing nucleus RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding PLA2R1/RBMS1(2) CTATGCCATGGTCTTCCATTA 0.453000 157 115 0 0 1 0 0 SLC39A7 7922 broad.mit.edu 37 6 33169894 33169894 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:33169894C>T uc003odf.3 + 3 743 c.626C>T c.(625-627)tCc>tTc p.S209F RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.S209F|SLC39A7_uc011dqv.2_Missense_Mutation_p.S84F|HSD17B8_uc003odi.1_5'Flank NM_001077516 NP_008910 Q92504 S39A7_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA. 209 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CATGGACACTCCCACAGTGGT 0.547000 120 46 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96178734 96178734 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:96178734C>T uc001yfc.4 - 2 251 c.121_splice c.e2-1 p.I41_splice TCL1A_uc001yfb.4_Splice_Site_p.I41_splice NM_001098725 NP_068801 P56279 TCL1A_HUMAN Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA. 41 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TATCCTTTATCTGAGGAGAAG 0.577000 T TRA@ T-CLL 34 35 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46847149 46847149 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:46847149C>T uc021tzm.1 - 13 2386 c.2351G>A c.(2350-2352)gGg>gAg p.G784E TTLL6_uc002iob.3_Missense_Mutation_p.G477E|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.G537E|TTLL6_uc002iod.3_Intron NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA. 736 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GGAGAGCTTCCCACTCAGTTG 0.498000 70 37 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29837973 29837973 + Silent SNP T C C rs61731583 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:29837973T>C uc003afn.3 + 1 1025 c.816T>C c.(814-816)agT>agC p.S272S RFPL1-AS1_uc003afm.2_Non-coding_Transcript NM_021026 NP_066306 O75677 RFPL1_HUMAN Homo sapiens ret finger protein-like 1 (RFPL1), mRNA. 272 B30.2/SPRY. zinc ion binding p.S272S(2) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CATTCAGGAGTGTCTCTGCTG 0.473000 98 5 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121653046 121653046 + Missense_Mutation SNP G T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:121653046G>T uc003vjy.3 + 11 4341 c.3946G>T c.(3946-3948)Gtt>Ttt p.V1316F PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 1316 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 TGCTACACCTGTTTTATCAAT 0.368000 58 3 1 1 1 1 0 PGR 5241 broad.mit.edu 37 11 100920673 100920673 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:100920673T>C uc001pgh.2 - 5 3218 c.2475A>G c.(2473-2475)ttA>ttG p.L825L PGR_uc001pgg.2_Silent_p.L206L|PGR_uc001pgi.2_Silent_p.L723L|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 825 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.L825L(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TATTAAGAAGTAACAATACTT 0.328000 43 32 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790085 248790085 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:248790085C>T uc001ier.1 - 0 345 c.345G>A c.(343-345)atG>atA p.M115I NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA. 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) AGTCATAGGCCATGAGGCCCA 0.512000 90 37 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69416513 69416513 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:69416513C>T uc021xov.1 - 4 1238 c.1195G>A c.(1195-1197)Gat>Aat p.D399N NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 399 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.A398A(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TCATGTTGATCCGCAAACAAG 0.458000 147 48 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 556900 556900 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:556900C>T uc001lpx.3 - 7 974 c.911G>A c.(910-912)cGg>cAg p.R304Q AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA. 304 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCGGTGGTCCCGGGGCGGGTG 0.687000 5 6 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147094285 147094285 + Missense_Mutation SNP C G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:147094285C>G uc001epq.3 + 8 3856 c.3116C>G c.(3115-3117)tCc>tGc p.S1039C BCL9_uc010ozr.1_Missense_Mutation_p.S965C NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 1039 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GATGACGACTCCCCTCCAGCT 0.473000 T """IGH@, IGL@""" B-ALL 129 75 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107048104 107048104 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:107048104C>T uc001tlt.3 + 3 457 c.317C>T c.(316-318)cCt>cTt p.P106L LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.P97L|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.P106L NM_001206691 NP_001193620 Q33E94 RFX4_HUMAN Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA. 97 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GATACCCAACCTGTCAATGCT 0.483000 59 50 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70964873 70964873 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:70964873G>A uc003pfg.4 - 22 1750 c.1591C>T c.(1591-1593)Cct>Tct p.P531S COL9A1_uc003pfe.4_Missense_Mutation_p.P104S|COL9A1_uc003pff.4_Missense_Mutation_p.P288S NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 531 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TTGGGCCCAGGGAGACCAGGA 0.433000 204 131 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399748 10399748 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:10399748C>T uc002gmo.3 - 33 4869 c.4775G>A c.(4774-4776)aGa>aAa p.R1592K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1592 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.R1592K(2) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AATGTGGTTTCTCTTCATCTG 0.463000 152 94 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128706573 128706573 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:128706573G>A uc003elj.4 - 3 749 c.553C>T c.(553-555)Cac>Tac p.H185Y KIAA1257_uc003elg.1_Missense_Mutation_p.H185Y|KIAA1257_uc003eli.4_Missense_Mutation_p.H73Y NM_020741 NP_065792 Q9ULG3 K1257_HUMAN Homo sapiens KIAA1257 (KIAA1257), mRNA. 185 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GTGATTTTGTGGAAATTTATT 0.438000 35 24 0 0 1 0 0 SPIN3 169981 broad.mit.edu 37 X 57021158 57021158 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:57021158G>A uc022bxv.1 - 0 223 c.223C>T c.(223-225)Cag>Tag p.Q75* SPIN3_uc004duu.4_Non-coding_Transcript|SPIN3_uc004duw.4_Non-coding_Transcript|SPIN3_uc004duv.4_Non-coding_Transcript|SPIN3_uc010nkj.2_Nonsense_Mutation_p.Q75*|SPIN3_uc004dux.1_Nonsense_Mutation_p.Q75* NM_001010862 NP_001010862 Q5JUX0 SPIN3_HUMAN Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA. 75 gamete generation central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 ACAGGTACCTGATCCAGAACG 0.458000 187 141 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656143 167656143 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:167656143C>T uc011cjq.1 - 9 1324 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K SPOCK3_uc021xuf.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E294K|SPOCK3_uc003iri.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E363K|SPOCK3_uc003irj.1_Missense_Mutation_p.E411K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E322K|SPOCK3_uc011cjp.2_Missense_Mutation_p.E371K|SPOCK3_uc011cju.1_Missense_Mutation_p.E318K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E316K NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 414 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.D423N(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) tcttcaatttcatcttcatca 0.353000 19 10 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980842 121980842 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:121980842C>T uc003eew.4 + 3 1398 c.960C>T c.(958-960)ttC>ttT p.F320F CASR_uc003eev.4_Silent_p.F320F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 320 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) CCATTGGATTCGCTCTGAAGG 0.577000 56 39 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322305 55322305 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55322305C>T uc010rig.2 + 0 523 c.523C>T c.(523-525)Cgt>Tgt p.R175C NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GGCCTATGATCGTTATGTGGC 0.507000 HNSCC(20;0.049) 112 72 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54971083 54971083 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:54971083G>A uc001sgd.2 + 14 1975 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K PDE1B_uc010soz.2_Missense_Mutation_p.E391K|PDE1B_uc010spa.1_Missense_Mutation_p.E487K|PDE1B_uc001sge.3_Missense_Mutation_p.E508K|PDE1B_uc001sgf.3_Missense_Mutation_p.E391K|PDE1B_uc009znq.3_Missense_Mutation_p.E324K NM_000924 NP_000915 Q01064 PDE1B_HUMAN Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA. 528 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGCCGAAGATGAACACAACCA 0.562000 170 108 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70782757 70782757 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:70782757G>A uc004eaa.2 + 15 2276 c.2038G>A c.(2038-2040)Gat>Aat p.D680N BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.D670N|OGT_uc004eac.3_Missense_Mutation_p.D541N|OGT_uc004ead.3_Missense_Mutation_p.D299N NM_181672 NP_858058 O15294 OGT1_HUMAN Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA. 680 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction MLL5-L complex|cytosol enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TATTATCACTGATCAGGAAAC 0.398000 142 81 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66479530 66479530 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:66479530C>T uc003juy.2 - 2 1289 c.1141G>A c.(1141-1143)Gac>Aac p.D381N NM_005582 NP_005573 Q99467 CD180_HUMAN Homo sapiens CD180 molecule (CD180), mRNA. 381 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GCCTCTATGTCATTATGGCTT 0.463000 96 64 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23064935 23064935 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:23064935G>A uc002wsv.3 - 0 2043 c.1895C>T c.(1894-1896)cCa>cTa p.P632L NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 632 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGCTCGCTCTGGAACCCAGGA 0.612000 141 118 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819512 17819512 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:17819512G>A uc022btm.1 - 0 619 c.619C>T c.(619-621)Cct>Tct p.P207S RAI2_uc004cyf.3_Missense_Mutation_p.P207S|RAI2_uc004cyg.3_Missense_Mutation_p.P207S|RAI2_uc011miy.2_Missense_Mutation_p.P157S|RAI2_uc022btl.1_Missense_Mutation_p.P207S|RAI2_uc004cyh.4_Missense_Mutation_p.P207S|RAI2_uc010nfa.3_Missense_Mutation_p.P207S NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 207 Pro-rich. embryo development p.P206S(1) 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) GCATAGCCAGGAGGAGGCTGA 0.632000 41 30 0 0 1 0 0 AL117485 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:18844888A>G uc002zoe.3 + 3 c.2142A>G AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. GCTCACGGAAATACAGCTTCA 0.587000 53 4 0 0 1 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34499220 34499220 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:34499220C>T uc002hky.2 - 6 641 c.491G>A c.(490-492)gGa>gAa p.G164E DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank NM_001001417 NP_001001417 A6NDS4 TBC3B_HUMAN Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA. 164 Rab-GAP TBC. intracellular Rab GTPase activator activity p.G164*(1) endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTACTTGGTTCCGTATCGATC 0.572000 415 106 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233954 84233954 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:84233954G>A uc003pjz.3 + 1 1034 c.794G>A c.(793-795)cGa>cAa p.R265Q PRSS35_uc010kbm.3_Missense_Mutation_p.R265Q|PRSS35_uc021zce.1_Missense_Mutation_p.R265Q NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 265 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.A264T(1) 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) GGCTGGGCACGAGGAGGCATG 0.532000 10 39 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150714950 150714950 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:150714950G>A uc003lty.3 - 5 814 c.684C>T c.(682-684)tcC>tcT p.S228S SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.S30S|SLC36A2_uc010jhv.2_Silent_p.S228S NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 228 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCCAGCATGGAGAAGATGG 0.567000 59 44 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71895921 71895921 + Splice_Site SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:71895921T>G uc004eax.4 - 6 919 c.618_splice c.e6+1 p.K206_splice PHKA1_uc004eay.4_Splice_Site_p.K206_splice|PHKA1_uc011mqi.2_Splice_Site_p.K206_splice NM_002637 NP_002628 P46020 KPB1_HUMAN Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. 206 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) GAAAATTACCTTTGCCATTCC 0.408000 86 59 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55625271 55625271 + Missense_Mutation SNP C T T rs142884641 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:55625271C>T uc003pcq.3 - 4 1800 c.1088G>A c.(1087-1089)cGg>cAg p.R363Q BMP5_uc011dxf.2_Missense_Mutation_p.R363Q NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 363 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R363W(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TCCCAGATCCCGGAAGCTCAC 0.363000 98 43 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156626809 156626809 + Silent SNP G A A rs151238031 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:156626809G>A uc001fpp.3 + 9 2466 c.2130G>A c.(2128-2130)gaG>gaA p.E710E NM_021948 NP_068767 Q96GW7 PGCB_HUMAN Homo sapiens brevican (BCAN), transcript variant 1, mRNA. 710 C-type lectin. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAGCTGGGAGGAGGCAGAGA 0.652000 119 3 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106523592 106523592 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:106523592C>T uc003vdv.4 + 7 2829 c.2744C>T c.(2743-2745)tCc>tTc p.S915F PIK3CG_uc003vdu.3_Missense_Mutation_p.S915F|PIK3CG_uc003vdw.3_Missense_Mutation_p.S915F NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 915 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AAAGAAAAATCCCCTACTGAA 0.423000 17 44 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799764 45799764 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:45799764G>A uc001jcc.1 - 3 416 c.107C>T c.(106-108)tCg>tTg p.S36L OR13A1_uc001jcd.1_Missense_Mutation_p.S32L|OR13A1_uc021ppq.1_Missense_Mutation_p.S36L NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA. 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S36S(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TGGGTGCTCCGAAAAGCCCTG 0.532000 11 46 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113067660 113067660 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:113067660G>A uc002thq.1 + 3 929 c.535G>A c.(535-537)Gaa>Aaa p.E179K NM_198581 NP_940983 P61129 ZC3H6_HUMAN Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA. 179 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 GCAAGCTAAAGAAACCTCAAA 0.373000 18 15 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41514563 41514563 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:41514563G>A uc002xkg.3 - 1 282 c.98C>T c.(97-99)tCc>tTc p.S33F PTPRT_uc010ggj.3_Missense_Mutation_p.S33F NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 33 MAM. 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) CTCATCAAAGGAACAGCCACC 0.478000 75 40 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8138105 8138105 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:8138105G>C uc002mjf.3 - 60 7796 c.7779C>G c.(7777-7779)tgC>tgG p.C2593W FBN3_uc002mje.3_Missense_Mutation_p.C389W NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2593 EGF-like 43; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent 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 AGGGGCAGACGCAGCGGAAGC 0.647000 52 34 0 0 1 0 0 ZNF18 7566 broad.mit.edu 37 17 11886657 11886657 + Silent SNP T G G rs140979549 by1000genomes TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:11886657T>G uc002gng.1 - 7 1424 c.819A>C c.(817-819)atA>atC p.I273I ZNF18_uc002gnh.1_Silent_p.I273I|ZNF18_uc002gni.1_Silent_p.I272I NM_144680 NP_653281 P17022 ZNF18_HUMAN Homo sapiens zinc finger protein 18 (ZNF18), mRNA. 273 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) CATGAAGGTATATTCCTGCCA 0.433000 123 79 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220804420 220804420 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:220804420A>C uc009xdw.3 + 9 1550 c.953A>C c.(952-954)gAa>gCa p.E318A MARK1_uc001hmn.4_Missense_Mutation_p.E318A|MARK1_uc010pun.2_Missense_Mutation_p.E318A|MARK1_uc001hmm.4_Missense_Mutation_p.E296A NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 318 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.E317K(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) CATGAAGAGGAAGAACTAAAG 0.363000 110 56 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114516050 114516050 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:114516050C>T uc001eem.3 + 15 3710 c.3549C>T c.(3547-3549)tcC>tcT p.S1183S HIPK1_uc001een.3_Silent_p.S1183S|HIPK1_uc001eeo.3_Silent_p.S809S|HIPK1_uc001eep.3_Silent_p.S789S|HIPK1_uc001eeq.3_Silent_p.S475S NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 1183 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) CCACCCAATCCTACATTGGGT 0.547000 187 115 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 407684 407684 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:407684A>C uc003bot.3 + 14 2279 c.1637A>C c.(1636-1638)cAt>cCt p.H546P CHL1_uc003bou.3_Missense_Mutation_p.H530P|CHL1_uc003bow.2_Missense_Mutation_p.H530P|CHL1_uc011asi.2_Missense_Mutation_p.H546P|BC065754_uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 530 Ig-like C2-type 6. 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) CCCAAATTGCATATGCTTGAA 0.348000 9 34 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50381252 50381252 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:50381252C>T uc004dpe.2 - 2 352 c.326G>A c.(325-327)gGa>gAa p.G109E SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_5'UTR NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA. 109 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TTCAGGGCATCCCTCCAGCAG 0.582000 32 25 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085743 42085743 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:42085743C>T uc002ore.4 + 2 558 c.462C>T c.(460-462)acC>acT p.T154T CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.T154T NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA. 154 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 CCAGCAGCACCACAGTCACAG 0.537000 74 67 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103121867 103121867 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:103121867C>T uc002tbz.4 + 3 1592 c.1135C>T c.(1135-1137)Cac>Tac p.H379Y NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 379 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GGGCAAGAATCACGAGTGGAA 0.537000 80 54 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057582 9057582 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:9057582G>A uc002mkp.3 - 2 30068 c.29864C>T c.(29863-29865)aCc>aTc p.T9955I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9957 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 GGTGGTGATGGTCATTTGTGT 0.498000 273 168 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69093103 69093103 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:69093103G>A uc002sez.1 - 1 1094 c.935C>T c.(934-936)gCc>gTc p.A312V NM_014482 NP_055297 O95393 BMP10_HUMAN Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA. 312 BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis Z disc|cell surface|extracellular space cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 TCTGATTCGGGCAGTGGAGTC 0.522000 35 31 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234106796 234106796 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:234106796G>A uc010zmo.2 + 23 2815 c.2662G>A c.(2662-2664)Gga>Aga p.G888R INPP5D_uc010zmp.2_Missense_Mutation_p.G887R NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 917 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAACTACATGGGAGTGGGGCC 0.622000 25 23 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962589 73962589 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:73962589G>A uc004eby.3 - 2 2420 c.1803C>T c.(1801-1803)tcC>tcT p.S601S NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 601 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTGTCTTGATGGAGTCCGTGT 0.443000 19 16 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28233311 28233311 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:28233311C>T uc009xky.3 - 11 1681 c.1583G>A c.(1582-1584)aGa>aAa p.R528K ARMC4_uc010qds.2_Missense_Mutation_p.R53K|ARMC4_uc010qdt.2_Missense_Mutation_p.R220K|ARMC4_uc001itz.3_Missense_Mutation_p.R528K|ARMC4_uc010qdu.1_Missense_Mutation_p.R220K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 528 binding p.R528R(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 AATATTCTGTCTGATTTGAGG 0.378000 65 40 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26526455 26526455 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:26526455G>A uc010oez.2 + 6 893 c.893G>A c.(892-894)gGc>gAc p.G298D CATSPER4_uc010oey.1_Missense_Mutation_p.G120D|CATSPER4_uc009vsf.3_Non-coding_Transcript NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA. 298 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GCCTTCATTGGCATCAACCTG 0.517000 36 33 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53072387 53072387 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:53072387G>A uc001sau.1 - 1 804 c.745C>T c.(745-747)Caa>Taa p.Q249* KRT1_uc001sav.1_Nonsense_Mutation_p.Q249* NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 249 Coil 1B.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.D248N(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 AACCGAGATTGATCACTCTTC 0.468000 133 97 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31595823 31595823 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:31595823C>T uc003nvb.4 + 11 1821 c.1572C>T c.(1570-1572)gtC>gtT p.V524V PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.V524V NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 524 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 CACCTGCAGTCCCTAAAGAAC 0.602000 277 48 0 0 1 0 0 TIPRL 261726 broad.mit.edu 37 1 168160618 168160618 + Silent SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:168160618A>C uc001gfg.3 + 3 541 c.396A>C c.(394-396)acA>acC p.T132T TIPRL_uc001gff.3_Silent_p.T132T NM_152902 NP_690866 O75663 TIPRL_HUMAN Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA. 132 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) TTGTACCTACAACAGATCATA 0.323000 61 48 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91572281 91572281 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:91572281C>T uc001tbt.3 - 1 303 c.49G>A c.(49-51)Gga>Aga p.G17R DCN_uc001tbo.3_Missense_Mutation_p.G17R|DCN_uc001tbp.3_Missense_Mutation_p.G17R|DCN_uc001tbq.3_Missense_Mutation_p.G17R|DCN_uc001tbr.3_Missense_Mutation_p.G17R|DCN_uc001tbu.3_Missense_Mutation_p.G17R NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 17 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 TGAAACGGTCCAGCCCAGGAA 0.473000 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 48 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11087497 11087497 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:11087497C>T uc001aru.3 - 10 1538 c.1506G>A c.(1504-1506)ctG>ctA p.L502L NM_006610 NP_006601 O00187 MASP2_HUMAN Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA. 502 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-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) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) ATAGTCTTTTCAGGGTGCCCA 0.443000 178 123 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21792827 21792827 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:21792827G>A uc001wag.3 + 13 1813 c.1813G>A c.(1813-1815)Gaa>Aaa p.E605K RPGRIP1_uc001wah.3_Missense_Mutation_p.E247K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.E70K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E80K|RPGRIP1_uc010aim.3_Intron|RPGRIP1_uc001wal.3_Nonsense_Mutation_p.W13*|RPGRIP1_uc001wam.3_5'UTR NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 605 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GTTATGTTTGGAAACACTGCC 0.483000 107 63 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45744164 45744164 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:45744164C>T uc003tne.4 + 16 2784 c.2766C>T c.(2764-2766)atC>atT p.I922I NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 922 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCAAGACCATCGGGAGCACCT 0.502000 71 45 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367230 234367230 + Silent SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:234367230C>A uc001hvy.1 + 2 496 c.351C>A c.(349-351)ggC>ggA p.G117G SLC35F3_uc001hwa.1_Silent_p.G48G NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 48 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGGAGGCCGGCGGGAGAGCGA 0.746000 85 51 8.28887e-21 8.35852e-21 1 1 0 CSRNP3 80034 broad.mit.edu 37 2 166535621 166535621 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:166535621G>A uc002udf.3 + 6 1492 c.1116G>A c.(1114-1116)gaG>gaA p.E372E CSRNP3_uc002udg.3_Silent_p.E372E NM_001172173 NP_079245 Q8WYN3 CSRN3_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA. 372 Glu-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E371D(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 CAGACgaggaggaggaggaag 0.542000 61 54 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3019250 3019250 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:3019250G>A uc022brz.1 + 7 1226 c.1090G>A c.(1090-1092)Gga>Aga p.G364R ARSF_uc004cre.2_Missense_Mutation_p.G364R|ARSF_uc004crf.2_Missense_Mutation_p.G364R NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 364 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) TGGATGGAATGGAATATACAA 0.438000 146 80 0 0 1 0 0 USE1 55850 broad.mit.edu 37 19 17330493 17330493 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:17330493G>A uc002nfo.2 + 7 711 c.651G>A c.(649-651)acG>acA p.T217T USE1_uc010eal.1_3'UTR NM_018467 NP_060937 Q9NZ43 USE1_HUMAN Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA. 217 lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|endometrium(1)|lung(3) 6 AACTGAAGACGGAGTCAGAGC 0.532000 48 50 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168369 36168369 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:36168369C>T uc003olv.4 + 1 494 c.270C>T c.(268-270)tcC>tcT p.S90S BRPF3_uc010jwb.3_Silent_p.S90S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.S90S NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 90 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CTGGCAAGTCCAAGAAACCCT 0.483000 121 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179635288 179635288 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:179635288C>T uc021vsy.1 - 34 8456 c.8231G>A c.(8230-8232)gGa>gAa p.G2744E TTN_uc021vsz.1_Missense_Mutation_p.G2698E|TTN_uc021vta.1_Missense_Mutation_p.G2698E|TTN_uc021vtb.1_Missense_Mutation_p.G2698E|TTN_uc002unb.2_Missense_Mutation_p.G2744E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2744 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) CAGCACAACTCCATTTTTGAT 0.413000 119 89 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123184124 123184124 + Missense_Mutation SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:123184124C>A uc003ieh.3 + 40 7013 c.6968C>A c.(6967-6969)tCc>tAc p.S2323Y KIAA1109_uc003iel.1_Missense_Mutation_p.S258Y|KIAA1109_uc003iek.2_Missense_Mutation_p.S942Y NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 2323 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 AAAAGTAGCTCCCTAACGAGA 0.438000 30 22 1.28384e-07 1.28742e-07 1 1 0 MUM1L1 139221 broad.mit.edu 37 X 105449808 105449808 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:105449808C>T uc022cca.1 + 0 383 c.383C>T c.(382-384)tCa>tTa p.S128L MUM1L1_uc004emg.2_Missense_Mutation_p.S128L|MUM1L1_uc004emf.2_Missense_Mutation_p.S128L NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 128 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CAGTCCGATTCACCCCCTCAT 0.423000 43 31 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32367214 32367214 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:32367214G>A uc001utt.3 + 15 1846 c.1775G>A c.(1774-1776)gGa>gAa p.G592E RXFP2_uc010aba.3_Missense_Mutation_p.G568E NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 592 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TATTCTCTTGGAATTTTCCTA 0.294000 55 30 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54537566 54537566 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:54537566G>A uc003dhf.3 + 4 477 c.429G>A c.(427-429)ggG>ggA p.G143G CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.G49G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 143 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G143G(2)|p.D142D(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACAAAGACGGGAATTTTTTGG 0.398000 24 64 0 0 1 0 0 RPL2B 0 broad.mit.edu 37 16 436904 436904 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:436904C>T uc002cgx.3 + 0 242 c.214C>T c.(214-216)Cgg>Tgg p.R72W LOC100134368_uc002cgw.1_Intron SubName: Full=Putative uncharacterized protein; CACCTTCCAGCGGCCCAAGAC 0.552000 80 3 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44839107 44839107 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:44839107G>A uc002xrm.2 - 5 1524 c.1125C>T c.(1123-1125)ttC>ttT p.F375F CDH22_uc010ghk.1_Silent_p.F375F|CDH22_uc002xrn.2_Silent_p.F126F NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 375 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CCTGGTCGCGGAACGTGCCCA 0.711000 21 20 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45548195 45548195 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:45548195C>T uc002zeb.3 + 18 2517 c.2427C>T c.(2425-2427)tcC>tcT p.S809S NM_005049 NP_005040 Q15269 PWP2_HUMAN Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA. 809 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TAGCTTCCTCCTTTGAAGTGT 0.493000 96 67 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407696 148407696 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:148407696G>A uc003lpu.3 - 10 1751 c.1599C>T c.(1597-1599)ctC>ctT p.L533L SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.L177L|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.L80L|SH3TC2_uc010jgx.3_Silent_p.L526L|SH3TC2_uc003lpv.1_Silent_p.L80L|SH3TC2_uc011dbz.1_Silent_p.L418L NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 533 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGGCCCAGGAGGAAGCAGA 0.562000 156 90 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55211104 55211104 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:55211104C>T uc003tqk.3 + 2 593 c.347C>T c.(346-348)tCc>tTc p.S116F EGFR_uc003tqh.3_Missense_Mutation_p.S116F|EGFR_uc003tqi.3_Missense_Mutation_p.S116F|EGFR_uc003tqj.3_Missense_Mutation_p.S116F|EGFR_uc022adm.1_Missense_Mutation_p.S116F|EGFR_uc010kzg.2_Missense_Mutation_p.S116F|EGFR_uc022adn.1_Missense_Mutation_p.S116F|EGFR_uc011kco.2_Missense_Mutation_p.S63F NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 116 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 MAP kinase activity|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 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 UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) 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) TACGAAAATTCCTATGCCTTA 0.463000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 73 57 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81934290 81934290 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:81934290G>A uc002fgt.3 + 13 1445 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K PLCG2_uc010chg.1_Missense_Mutation_p.E423K NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 423 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GGCCTTCAAGGAAGTATTTGG 0.607000 68 34 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037355 148037355 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:148037355G>A uc004fcp.3 + 10 2259 c.1780G>A c.(1780-1782)Gag>Aag p.E594K AFF2_uc004fcq.3_Missense_Mutation_p.E584K|AFF2_uc004fcr.3_Missense_Mutation_p.E555K|AFF2_uc011mxb.2_Missense_Mutation_p.E559K|AFF2_uc004fcs.3_Missense_Mutation_p.E561K|AFF2_uc011mxc.2_Missense_Mutation_p.E235K NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 594 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TCTCATTAGGGAGAAAGCCCG 0.473000 124 96 0 0 1 0 0 SULT1C4 27233 broad.mit.edu 37 2 108998302 108998302 + Missense_Mutation SNP G A A rs137946991 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:108998302G>A uc002tea.1 + 1 627 c.254G>A c.(253-255)cGa>cAa p.R85Q SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.R85Q NM_006588 NP_006579 O75897 ST1C4_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA. 85 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity p.R85Q(4)|p.R85L(2) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 ACTCATCAACGATTTCCTTTC 0.398000 66 45 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58206728 58206728 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:58206728C>T uc001vhq.1 + 0 940 c.48C>T c.(46-48)ctC>ctT p.L16L PCDH17_uc010aec.1_Silent_p.L16L NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 16 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.A15V(1) 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) CCCCTGCCCTCACTCTCAAGA 0.612000 15 16 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089189 220089189 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:220089189G>A uc001hlw.3 - 3 1271 c.1060C>T c.(1060-1062)Cct>Tct p.P354S RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.P109S|SLC30A10_uc001hlx.3_Missense_Mutation_p.P129S NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA. 354 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) CTGTCCTTAGGATACTTGATG 0.443000 115 177 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2936599 2936599 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:2936599C>T uc011mhj.2 + 4 789 c.789C>T c.(787-789)ctC>ctT p.L263L NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 263 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTTTTCTCCTCTTTTTTTCCT 0.393000 81 52 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 219000374 219000374 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:219000374G>A uc002vgz.2 + 3 1060 c.850G>A c.(850-852)Gag>Aag p.E284K CXCR2_uc002vha.2_Missense_Mutation_p.E284K|CXCR2_uc002vhb.2_Missense_Mutation_p.E284K|CXCR2_uc021vwp.1_Missense_Mutation_p.E284K NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 284 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GGTGATCCAGGAGACCTGTGA 0.597000 56 50 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890053 55890053 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55890053T>A uc001nii.1 + 0 205 c.205T>A c.(205-207)Ttt>Att p.F69I NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F69C(1)|p.S68*(1) 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) TCACCTGTCATTTATTGACCT 0.438000 479 67 0 0 1 0 0 LOC442132 442132 broad.mit.edu 37 5 7304358 7304358 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:7304358G>A uc003jdy.2 - 2 c.353C>T Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA. TTTCAGCTGAGCTCGGTTCTG 0.557000 9 11 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81196149 81196150 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:81196149_81196150GG>AA uc003hmd.3 + 1 679_680 c.442_443GG>AA c.(442-444)gga>AAa p.G148K FGF5_uc003hme.3_Intron NM_004464 NP_004455 P12034 FGF5_HUMAN Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA. 148 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GTCAAAAAAAGGAAAACTCCAT 0.327000 34 16 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649781 136649781 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:136649781G>A uc004fak.3 + 0 1436 c.931G>A c.(931-933)Gcg>Acg p.A311T NM_003413 NP_003404 O60481 ZIC3_HUMAN Homo sapiens Zic family member 3 (ZIC3), mRNA. 311 Nuclear localization signal. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) GTCTTTCAAGGCGAAGTACAA 0.607000 176 106 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45132920 45132920 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:45132920C>T uc002xsa.3 - 2 705 c.243G>A c.(241-243)gtG>gtA p.V81V ZNF334_uc002xsb.3_Silent_p.V20V|ZNF334_uc002xsd.3_Silent_p.V20V|ZNF334_uc002xsc.3_Silent_p.V58V|ZNF334_uc010ghl.3_Silent_p.V57V Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ATTTGAAAATCACATCTGGTT 0.403000 42 25 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6190746 6190746 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:6190746G>A uc010qzy.2 - 0 811 c.811C>T c.(811-813)Cct>Tct p.P271S NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA. 271 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) ACATGTTGAGGAATATTACGC 0.463000 48 30 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52941587 52941587 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:52941587C>T uc002pzk.3 + 3 980 c.913C>T c.(913-915)Cat>Tat p.H305Y ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H292Y NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA. 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 34 30 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553440 140553440 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140553440G>A uc003lit.3 + 0 1198 c.1024G>A c.(1024-1026)Gat>Aat p.D342N NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 342 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGATATAAACGATAATCGACC 0.448000 45 41 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34105144 34105144 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:34105144G>A uc001zhi.3 + 72 10408 c.10338G>A c.(10336-10338)aaG>aaA p.K3446K RYR3_uc010bar.3_Silent_p.K3441K NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3446 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATCCGGAAAAGACAGTGGAGC 0.483000 56 30 0 0 1 0 0 NOL10 79954 broad.mit.edu 37 2 10729252 10729252 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:10729252G>A uc002raq.2 - 18 1886 c.1761C>T c.(1759-1761)gtC>gtT p.V587V NOL10_uc010yje.1_Silent_p.V561V|NOL10_uc010yjf.1_Silent_p.V537V|NOL10_uc002rap.2_Silent_p.V537V NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN Homo sapiens nucleolar protein 10 (NOL10), mRNA. 587 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) GGGGCTTTAGGACTGTCTGCT 0.483000 77 47 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 527770 527770 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:527770C>T uc001qig.3 + 4 561 c.381C>T c.(379-381)cgC>cgT p.R127R CCDC77_uc009zdk.3_Silent_p.R95R|CCDC77_uc010sdp.2_Silent_p.R95R|CCDC77_uc010sdq.2_Silent_p.R95R NM_032358 NP_001123620 Q9BR77 CCD77_HUMAN Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA. 127 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) ATGTTTTACGCCTCTACTCAG 0.403000 112 80 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79350013 79350013 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:79350013C>T uc010ysd.2 + 3 435 c.368C>T c.(367-369)tCc>tTc p.S123F REG1A_uc002snz.3_Missense_Mutation_p.S123F NM_002909 NP_002900 P05451 REG1A_HUMAN Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA. 123 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.K122T(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TCCTACAAGTCCTGGGGCATT 0.547000 129 81 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119035981 119035981 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:119035981G>A uc003ibx.3 + 3 1493 c.1090G>A c.(1090-1092)Gga>Aga p.G364R NDST3_uc011cgf.1_Intron NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 364 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.G364A(1) NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GGAAGATGAAGGAGATGACTG 0.418000 73 36 0 0 1 0 0 SNX24 28966 broad.mit.edu 37 5 122343405 122343405 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:122343405C>T uc011cwo.2 + 6 640 c.471C>T c.(469-471)gtC>gtT p.V157V SNX24_uc010jcy.3_3'UTR NM_014035 NP_054754 Q9Y343 SNX24_HUMAN Homo sapiens sorting nexin 24 (SNX24), mRNA. 157 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) TTGAAGGAGTCCTCCATGGGA 0.328000 133 85 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68046546 68046546 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:68046546G>A uc001xjl.1 + 21 3278 c.3136G>A c.(3136-3138)Gat>Aat p.D1046N PLEKHH1_uc010tsw.1_Missense_Mutation_p.D614N|PLEKHH1_uc001xjn.1_Missense_Mutation_p.D561N|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA. 1046 FERM. 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) CTTCACGGACGATCCCTCGGG 0.587000 25 7 0 0 1 0 0 C17orf82 388407 broad.mit.edu 37 17 59489531 59489531 + Missense_Mutation SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:59489531C>A uc002izh.1 + 0 420 c.195C>A c.(193-195)gaC>gaA p.D65E NM_203425 NP_982249 Q86X59 CQ082_HUMAN Homo sapiens chromosome 17 open reading frame 82 (C17orf82), mRNA. 65 cervix(1)|lung(1) 2 GCTCGCAGGACAGGGCGGCAG 0.746000 OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 7 8.12818e-05 8.14326e-05 1 1 0 GCOM1 145781 broad.mit.edu 37 15 57929945 57929945 + Missense_Mutation SNP G T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:57929945G>T uc002aei.3 + 8 1117 c.986G>T c.(985-987)gGg>gTg p.G329V GCOM1_uc002aej.3_Missense_Mutation_p.G329V|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.G329V|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.G329V NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA. 329 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GAAATGTCTGGGGAGTTAACT 0.378000 16 17 6.94344e-10 6.96926e-10 1 1 0 ST18 9705 broad.mit.edu 37 8 53045802 53045802 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:53045802C>T uc003xqz.2 - 14 2516 c.2360G>A c.(2359-2361)aGa>aAa p.R787K ST18_uc011ldq.1_Missense_Mutation_p.R434K|ST18_uc011ldr.1_Missense_Mutation_p.R752K|ST18_uc011lds.1_Missense_Mutation_p.R692K|ST18_uc003xra.2_Missense_Mutation_p.R787K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 787 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H786H(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ATCCTACCTTCTGTGGGAAGC 0.498000 122 49 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20665813 20665813 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:20665813T>C uc010tlb.2 + 0 319 c.319T>C c.(319-321)Ttg>Ctg p.L107L NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTTCTCCTTCTTGGAGATATG 0.537000 88 68 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157691385 157691385 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:157691385G>A uc003wno.3 - 11 1889 c.1768C>T c.(1768-1770)Ctt>Ttt p.L590F PTPRN2_uc003wnp.3_Missense_Mutation_p.L573F|PTPRN2_uc003wnq.3_Missense_Mutation_p.L561F|PTPRN2_uc003wnr.3_Missense_Mutation_p.L552F|PTPRN2_uc011kwa.2_Missense_Mutation_p.L613F NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 590 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CCGGTTTGAAGAATTTTCAGT 0.522000 257 162 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554316 20554316 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:20554316C>T uc002dhj.4 - 12 1639 c.1429G>A c.(1429-1431)Gag>Aag p.E477K ACSM2B_uc002dhk.4_Missense_Mutation_p.E477K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E477K NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 477 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.E477D(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TTCTCTACCTCCGAGGGTCCA 0.572000 97 62 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13679062 13679062 + Splice_Site SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:13679062G>A uc011avc.2 + 18 3721 c.3339_splice c.e18-1 p.T1113_splice FBLN2_uc011auz.2_Splice_Site_p.T1092_splice|FBLN2_uc011avb.2_Splice_Site_p.T1066_splice|FBLN2_uc011ava.2_Splice_Site_p.T1113_splice NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 1066 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.T532T(1)|p.T1113T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CTCCCTGCAGGAAGTGCGAGC 0.657000 12 23 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21129779 21129779 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:21129779C>T uc001iqi.3 - 13 1625 c.1228_splice c.e13-1 p.K410_splice NEBL_uc001iqj.3_Splice_Site|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 410 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 TATATTCTTTCTATGAGACAA 0.318000 12 14 0 0 1 0 0 TGFB1 7040 broad.mit.edu 37 19 41848150 41848150 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:41848150C>T uc002oqh.2 - 3 1519 c.637G>A c.(637-639)Gaa>Aaa p.E213K NM_000660 NP_000651 P01137 TGFB1_HUMAN Homo sapiens transforming growth factor, beta 1 (TGFB1), mRNA. 213 ATP biosynthetic process|SMAD protein complex assembly|SMAD protein import into nucleus|active induction of host immune response by virus|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of DNA replication|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of SMAD protein import into nucleus|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway|viral infectious cycle Golgi lumen|extracellular space|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) CCCTCAATTTCCCCTGTAGGA 0.602000 13 11 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33386084 33386084 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:33386084G>A uc003zst.3 - 5 688 c.516C>T c.(514-516)ttC>ttT p.F172F AQP7_uc003zsu.1_Silent_p.F115F|AQP7_uc010mjs.2_Silent_p.F80F|AQP7_uc010mjt.2_Silent_p.F80F|AQP7_uc011lny.1_Silent_p.F171F|AQP7_uc003zss.3_Silent_p.F80F|AQP7_uc011lnz.1_Silent_p.F80F|AQP7_uc011loa.1_Intron|AQP7_uc011lnx.1_Silent_p.F172F NM_001170 NP_001161 O14520 AQP7_HUMAN Homo sapiens aquaporin 7 (AQP7), mRNA. 172 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCTCATTCAGGAAGCCCCGCC 0.587000 61 3 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235416 3235416 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:3235416G>A uc004crg.4 - 5 6463 c.6306C>T c.(6304-6306)ttC>ttT p.F2102F NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2102 Ig-like C2-type 5. 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) TCCCGTTGGGGAAAACAAACA 0.682000 13 14 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80654688 80654688 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:80654688C>T uc002ffs.3 - 3 1084 c.979G>A c.(979-981)Gag>Aag p.E327K NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 327 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CGAGTGCTCTCCTTTCGCCGG 0.562000 67 41 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72694588 72694588 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:72694588G>A uc002jlg.3 - 3 582 c.479C>T c.(478-480)cCc>cTc p.P160L RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.P163L|CD300LF_uc010dfw.3_Intron|CD300LF_uc002jlh.3_Silent_p.A175A|CD300LF_uc002jli.3_Intron|CD300LF_uc010wra.2_Missense_Mutation_p.P175L|CD300LF_uc002jlj.1_Missense_Mutation_p.P178L NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA. 160 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GAAGATGAGGGGCAGGAGGAC 0.572000 35 30 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76752552 76752552 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:76752552G>A uc002lmt.3 + 1 561 c.561G>A c.(559-561)gcG>gcA p.A187A SALL3_uc010dra.3_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCGCGCGCGCGGCAGGCGGCT 0.721000 6 6 0 0 1 0 0 SFTPC 6440 broad.mit.edu 37 8 22020245 22020245 + Splice_Site SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:22020245G>A uc003xaw.4 + 5 1051 c.348_splice c.e5+1 p.M116_splice SFTPC_uc003xax.4_Splice_Site_p.M67_splice|SFTPC_uc003xay.4_Splice_Site_p.M67_splice|SFTPC_uc003xaz.3_Splice_Site_p.M67_splice|SFTPC_uc011kza.1_Splice_Site_p.M67_splice|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank NM_001172357 NP_001165828 P11686 PSPC_HUMAN Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA. 67 BRICHOS. A -> D (in SMDP2). respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) ACACGGAGATGGTGAGAGGTG 0.592000 21 70 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14947797 14947797 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:14947797C>T uc002dcv.3 + 8 943 c.877C>T c.(877-879)Ccg>Tcg p.P293S NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 293 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CTTCCAGATTCCGTTCTATCG 0.438000 274 121 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912712 77912712 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:77912712C>T uc022bzi.1 - 0 1206 c.1206G>A c.(1204-1206)ggG>ggA p.G402G ZCCHC5_uc004edc.1_Silent_p.G402G NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 402 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 AGGAACTTTTCCCTAATGGAT 0.502000 98 62 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99312215 99312215 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:99312215T>G uc003uru.3 - 7 864 c.761A>C c.(760-762)aAa>aCa p.K254T ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA. 254 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TTTTATCTGTTTTACAGATTT 0.308000 50 43 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113286421 113286421 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:113286421C>T uc021xcn.1 + 2 1030 c.379C>T c.(379-381)Cgc>Tgc p.R127C SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.R127C|SIDT1_uc011big.2_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 127 integral to membrane p.R127C(2) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AGAAGTGAGCCGCACCTTATG 0.478000 111 66 0 0 1 0 0 IFT43 112752 broad.mit.edu 37 14 76548655 76548655 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:76548655G>A uc001xsg.2 + 4 362 c.328G>A c.(328-330)Gat>Aat p.D110N IFT43_uc001xsf.2_Non-coding_Transcript|IFT43_uc010asl.1_Missense_Mutation_p.D105N|IFT43_uc010asm.1_Missense_Mutation_p.D105N|IFT43_uc010tve.2_Non-coding_Transcript NM_052873 NP_443105 Q96FT9 IFT43_HUMAN Homo sapiens intraflagellar transport 43 homolog (Chlamydomonas) (IFT43), transcript variant 1, mRNA. 105 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TATCATTCCGGATCTGGAGGA 0.483000 310 257 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45555371 45555371 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:45555371G>A uc001zva.2 + 4 440 c.375G>A c.(373-375)aaG>aaA p.K125K NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 125 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity p.K125N(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TTTTGAAAAAGCTCCTGGGCA 0.458000 36 23 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330095 125330095 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:125330095C>T uc004bmp.1 - 0 662 c.662G>A c.(661-663)cGa>cAa p.R221Q NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R221*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGTGAGGATTCGTATATAAGA 0.428000 7 12 0 0 1 0 0 PLAUR 5329 broad.mit.edu 37 19 44153050 44153050 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:44153050A>C uc002oxf.2 - 6 1226 c.1000T>G c.(1000-1002)Tgg>Ggg p.W334G PLAUR_uc002oxd.2_Intron|PLAUR_uc002oxg.2_Missense_Mutation_p.W289G NM_002659 NP_002650 Q03405 UPAR_HUMAN Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA. 334 C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane U-plasminogen activator receptor activity|enzyme binding p.L333F(1) endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GTTTAGGTCCAGAGGAGAGTG 0.632000 109 79 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294762 109294762 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:109294762C>T uc021qqf.1 + 0 403 c.403C>T c.(403-405)Ccc>Tcc p.P135S C11orf87_uc010rwb.2_Missense_Mutation_p.P135S NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA. 135 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGAGAGGCAGCCCCGGGACTC 0.716000 75 64 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48794651 48794651 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:48794651G>A uc003xqi.3 - 37 4838 c.4781C>T c.(4780-4782)gCc>gTc p.A1594V PRKDC_uc003xqj.3_Missense_Mutation_p.A1594V NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 1595 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTTCAAAACGGCACTCACCTG 0.393000 Non-homologous end-joining 67 144 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33684053 33684053 + Missense_Mutation SNP C T T rs150194397 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:33684053C>T uc003jia.1 - 3 905 c.742G>A c.(742-744)Gtg>Atg p.V248M ADAMTS12_uc010iuq.1_Missense_Mutation_p.V248M NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 248 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AGTGTCTCCACCCATCTCTCC 0.522000 HNSCC(64;0.19) 116 90 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50146156 50146156 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:50146156C>T uc010njr.2 - 6 1255 c.1211G>A c.(1210-1212)gGa>gAa p.G404E NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA. 404 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGGCATGTTTCCTTCTACCCA 0.468000 17 12 0 0 1 0 0 C3orf15 89876 broad.mit.edu 37 3 119463002 119463002 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:119463002G>A uc003ede.4 + 13 1938 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K C3orf15_uc010hqz.3_Missense_Mutation_p.E559K|C3orf15_uc011bjd.2_Missense_Mutation_p.E495K|C3orf15_uc011bje.2_Missense_Mutation_p.E601K NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 457 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) GCGCCAGGTGGAAAAACAGCG 0.592000 40 24 0 0 1 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179360349 179360349 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:179360349C>T uc002umn.3 + 4 975 c.577C>T c.(577-579)Ccc>Tcc p.P193S MIR548N_uc021vsx.1_Intron NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA. 193 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) CCATCCGGATCCCTTAGTTTC 0.418000 153 116 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41029487 41029487 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:41029487C>T uc004dfb.3 + 19 3510 c.2877_splice c.e19+1 p.S959_splice USP9X_uc004dfc.3_Splice_Site_p.S959_splice NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 959 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 AAAGATAAATCGGTATGTATG 0.333000 24 21 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35478401 35478401 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:35478401C>T uc002hnm.3 - 49 6230 c.6039G>A c.(6037-6039)caG>caA p.Q2013Q ACACA_uc002hnk.3_Silent_p.Q1935Q|ACACA_uc002hnl.3_Silent_p.Q1955Q|ACACA_uc002hnn.3_Silent_p.Q2013Q|ACACA_uc002hno.3_Silent_p.Q2050Q|ACACA_uc010cuy.3_Silent_p.Q658Q|ACACA_uc010wdb.2_Silent_p.Q51Q|ACACA_uc010wdc.2_Silent_p.Q139Q NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 2013 Carboxyltransferase. Q -> H (in Ref. 1; AAC50139). acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCTGGCCAGCCTGCTGGATTA 0.443000 97 94 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958874 51958874 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:51958874A>G uc002pwt.3 - 3 916 c.849T>C c.(847-849)tgT>tgC p.C283C SIGLEC8_uc010yda.2_Silent_p.C174C|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Silent_p.C190C NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 283 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.V282L(1) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGTTGACAGCACAGACCAGGC 0.612000 150 4 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47667088 47667088 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:47667088T>G uc003gxm.3 - 10 1643 c.1550A>C c.(1549-1551)aAa>aCa p.K517T CORIN_uc011bzf.2_Missense_Mutation_p.K378T|CORIN_uc011bzg.2_Missense_Mutation_p.K450T|CORIN_uc011bzh.1_Missense_Mutation_p.K480T|CORIN_uc011bzi.1_Missense_Mutation_p.K480T NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 517 FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.K517T(2) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CACATCACATTTTGGTACCAA 0.443000 75 53 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58525003 58525003 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:58525003G>A uc002iys.1 - 12 1985 c.1697C>T c.(1696-1698)tCc>tTc p.S566F APPBP2_uc010ddl.1_Missense_Mutation_p.S495F NM_006380 NP_006371 Q92624 APBP2_HUMAN Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA. 566 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TTCTTCAGTGGACTGGGGGCT 0.493000 236 151 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935766 151935766 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:151935766T>G uc022chl.1 - 0 401 c.401A>C c.(400-402)gAa>gCa p.E134A MAGEA3_uc004fgp.3_Missense_Mutation_p.E134A NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 134 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CCCCAGCATTTCTGCCTTTGT 0.522000 164 98 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159277647 159277647 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:159277647C>T uc001ftq.3 + 5 796 c.699C>T c.(697-699)ctC>ctT p.L233L NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 233 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) TCACATTTCTCTTGAAGATTA 0.388000 69 35 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100187673 100187673 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:100187673C>T uc011kjz.1 + 1 295 c.227C>T c.(226-228)tCc>tTc p.S76F FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.S38F|FBXO24_uc003uvm.1_Missense_Mutation_p.S38F|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.S26F NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 38 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AATCCGATTTCCATCCAGTTG 0.567000 89 71 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160389128 160389128 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:160389128C>T uc001fwb.2 + 4 828 c.529C>T c.(529-531)Cgc>Tgc p.R177C VANGL2_uc001fwc.2_Missense_Mutation_p.R177C NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA. 177 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.R177H(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCGCTGCCCCGCGTCTTTGT 0.627000 93 82 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52564870 52564870 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:52564870C>T uc010bff.3 - 5 819 c.657G>A c.(655-657)ggG>ggA p.G219G MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Silent_p.G182G NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 219 Myosin head-like. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CTGTGTATTTCCCAAACCGAC 0.363000 47 19 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50384470 50384470 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:50384470G>A uc001rvt.2 - 17 2130 c.1820C>T c.(1819-1821)cCt>cTt p.P607L RACGAP1_uc009zlm.1_Missense_Mutation_p.P607L|RACGAP1_uc001rvs.2_Missense_Mutation_p.P607L|RACGAP1_uc001rvu.2_Missense_Mutation_p.P607L NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA. 607 blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TGCATACCTAGGAGTGTTCTT 0.403000 99 63 0 0 1 0 0 C12orf63 374467 broad.mit.edu 37 12 97137214 97137214 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:97137214T>A uc021rcc.1 + 19 2607 c.2529T>A c.(2527-2529)aaT>aaA p.N843K Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 843 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 GCCTCATCAATGAAGTGTGTA 0.398000 55 35 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31178565 31178565 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:31178565C>T uc002rns.3 - 6 1228 c.588G>A c.(586-588)caG>caA p.Q196Q GALNT14_uc002rnq.3_Silent_p.Q171Q|GALNT14_uc010ymr.2_Silent_p.Q156Q|GALNT14_uc002rnr.3_Silent_p.Q191Q|GALNT14_uc010ezo.2_Silent_p.Q158Q|GALNT14_uc010ezp.1_Silent_p.Q162Q NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 191 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GAGTGGTGCCCTGGGCGATGT 0.602000 56 37 0 0 1 0 0 C12orf12 196477 broad.mit.edu 37 12 91347590 91347590 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:91347590C>T uc001tbj.3 - 0 1364 c.930G>A c.(928-930)gaG>gaA p.E310E NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 310 Glu-rich. NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 cctcttcctcctcatcttcga 0.522000 17 23 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88140778 88140778 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:88140778G>A uc003plv.3 + 9 1310 c.1187G>A c.(1186-1188)aGa>aAa p.R396K C6orf165_uc003plu.2_Missense_Mutation_p.R396K|C6orf165_uc003plw.3_Missense_Mutation_p.R208K|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 396 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) GCAGATTTCAGAAAACTAGAA 0.343000 8 21 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764005 77764005 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:77764005C>T uc003yau.2 + 9 5235 c.4848C>T c.(4846-4848)ctC>ctT p.L1616L ZFHX4_uc003yaw.1_Silent_p.L1571L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1571 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) GGTCTGTGCTCCACCAGACAA 0.517000 HNSCC(33;0.089) 52 70 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66638663 66638663 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:66638663G>A uc001ojn.1 - 4 542 c.493C>T c.(493-495)Ccc>Tcc p.P165S PC_uc001ojo.1_Missense_Mutation_p.P165S|PC_uc001ojp.1_Missense_Mutation_p.P165S NM_022172 NP_071504 P11498 PYC_HUMAN Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 165 ATP-grasp.|Biotin carboxylation. 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) GGGACAACGGGAACACCTGTT 0.632000 81 66 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36069774 36069774 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:36069774G>A uc003gsq.2 - 32 5208 c.4870C>T c.(4870-4872)Cga>Tga p.R1624* ARAP2_uc003gso.3_Intron NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1624 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 GGTCGATTTCGAAGTTTATCG 0.512000 81 58 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11732266 11732266 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:11732266G>A uc003jfa.1 - 1 301 c.156C>T c.(154-156)ctC>ctT p.L52L CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 52 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.L52L(2) 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 TGACTGAGGCGAGGATGGCAG 0.443000 117 95 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40540121 40540121 + Silent SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:40540121A>T uc004dex.4 - 19 2639 c.2499T>A c.(2497-2499)atT>atA p.I833I NM_004229 NP_004220 O60244 MED14_HUMAN Homo sapiens mediator complex subunit 14 (MED14), mRNA. 833 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCCCAAAGAAATGTGGAATT 0.358000 47 32 0 0 1 0 0 VPS36 51028 broad.mit.edu 37 13 53016526 53016526 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:53016526C>T uc001vgs.3 - 1 185 c.151G>A c.(151-153)Gat>Aat p.D51N VPS36_uc001vgq.3_5'UTR NM_016075 NP_057159 Q86VN1 VPS36_HUMAN Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA. 51 GLUE N-terminal. cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) TTTTTCTGATCTCTCCAAATC 0.333000 46 26 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835398 172835398 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:172835398C>T uc003fin.4 - 1 308 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 42 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGTGACATTTCCAGGATGTTA 0.378000 228 135 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106849374 106849374 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:106849374C>T uc009yxn.1 - 2 848 c.458G>A c.(457-459)gGa>gAa p.G153E GUCY1A2_uc001pjg.1_Missense_Mutation_p.G153E|GUCY1A2_uc010rvo.1_Missense_Mutation_p.G153E NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 153 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTGAAGAATTCCTGAGACATC 0.363000 36 29 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91763741 91763741 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:91763741C>T uc010aty.3 - 21 4028 c.3874G>A c.(3874-3876)Gag>Aag p.E1292K NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1292 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CGGTTGAGCTCCAGCTGCGCG 0.607000 26 22 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228155475 228155475 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:228155475A>G uc002vom.2 + 36 3245 c.3083A>G c.(3082-3084)aAa>aGa p.K1028R BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1028 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) TCTAAAGGAAAAAGGGGAACT 0.428000 25 27 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26660710 26660710 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:26660710T>G uc001mqt.4 + 20 2208 c.2063T>G c.(2062-2064)tTg>tGg p.L688W ANO3_uc010rdr.2_Missense_Mutation_p.L672W|ANO3_uc010rds.2_Missense_Mutation_p.L527W|ANO3_uc010rdt.2_Missense_Mutation_p.L542W NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 688 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AGTGGCTGTTTGATAGACCTC 0.408000 69 78 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107811990 107811990 + Splice_Site SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:107811990G>A uc022ccg.1 + 6 524 c.322_splice c.e6-1 p.G108_splice COL4A5_uc004enz.1_Splice_Site_p.G108_splice NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 108 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTTTCAAAGGGAATGCCAGGC 0.423000 Alport syndrome with Diffuse Leiomyomatosis 156 91 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016354 23016354 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:23016354G>A uc002wsr.2 + 0 298 c.234G>A c.(232-234)atG>atA p.M78I NM_001052 NP_001043 P31391 SSR4_HUMAN Homo sapiens somatostatin receptor 4 (SSTR4), mRNA. 78 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) ACGCCAAGATGAAGACGGCTA 0.632000 162 107 0 0 1 0 0 POLR2E 5434 broad.mit.edu 37 19 1095392 1095392 + Splice_Site SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:1095392G>A uc002lre.4 - 1 1 c.-76_splice c.e1-1 POLR2E_uc010xgf.2_Splice_Site NM_002695 NP_002686 P19388 RPAB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA. 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) CGCCGAATCCGAATCAGGCCC 0.716000 14 18 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649896 136649896 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:136649896A>G uc004fak.3 + 0 1551 c.1046A>G c.(1045-1047)aAg>aGg p.K349R NM_003413 NP_003404 O60481 ZIC3_HUMAN Homo sapiens Zic family member 3 (ZIC3), mRNA. 349 Nuclear localization signal. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H348R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) AAGATCCACAAGAGGACCCAC 0.617000 114 90 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996488 140996488 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:140996488C>T uc004fbt.3 + 3 3622 c.3298C>T c.(3298-3300)Cca>Tca p.P1100S MAGEC1_uc010nsl.2_Missense_Mutation_p.P167S|MAGEC1_uc022cfi.1_Missense_Mutation_p.P759S NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 1100 MAGE. protein binding p.P1100P(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TATTACCTTTCCATCCTCTTA 0.448000 HNSCC(15;0.026) 167 117 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52761180 52761180 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:52761180G>A uc001sag.3 - 0 130 c.10C>T c.(10-12)Cgc>Tgc p.R4C NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 4 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CTGTAGGAGCGGCACGACATC 0.627000 43 15 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635291 7635291 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:7635291G>A uc001qsz.3 - 13 3323 c.3195C>T c.(3193-3195)ttC>ttT p.F1065F CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1065 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 ATAATGCGACGAAAATGGCCA 0.423000 99 71 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11666863 11666863 + Missense_Mutation SNP G A A rs140313224 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:11666863G>A uc002gne.3 + 35 7170 c.7102G>A c.(7102-7104)Gaa>Aaa p.E2368K DNAH9_uc010coo.3_Missense_Mutation_p.E1662K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2368 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2368K(2) 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) CTGCCCTAAGGAAATTTATGA 0.493000 73 60 0 0 1 0 0 OR4F15 390649 broad.mit.edu 37 15 102359037 102359037 + Silent SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:102359037T>A uc010uts.2 + 0 648 c.648T>A c.(646-648)atT>atA p.I216I NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGCTGGTAATTTCCTACATCT 0.478000 113 47 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124253093 124253093 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:124253093G>A uc010sai.2 - 0 147 c.147C>T c.(145-147)ttC>ttT p.F49F OR8B2_uc001qab.3_Non-coding_Transcript NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AATTTAGACCGAAAAGAGTGA 0.423000 203 82 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167167187 167167187 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:167167187G>A uc003fes.1 - 6 1069 c.998C>T c.(997-999)tCa>tTa p.S333L SERPINI2_uc003fer.1_Missense_Mutation_p.S323L|SERPINI2_uc003fet.1_Missense_Mutation_p.S323L NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 323 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CACTTCAGATGAATCTGGTTA 0.294000 24 18 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 107003646 107003646 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:107003646G>A uc003prh.3 + 14 5277 c.4365G>A c.(4363-4365)tgG>tgA p.W1455* AIM1_uc003pri.3_Nonsense_Mutation_p.W259* NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 1455 Beta/gamma crystallin 'Greek key' 10. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ATTGTAGCTGGGTTGTATATG 0.418000 40 102 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164502 26164502 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:26164502G>A uc003abz.1 + 3 869 c.619G>A c.(619-621)Gag>Aag p.E207K MYO18B_uc003aca.1_Missense_Mutation_p.E88K|MYO18B_uc010guy.1_Missense_Mutation_p.E88K|MYO18B_uc010guz.1_Missense_Mutation_p.E88K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 207 nucleus|sarcomere|unconventional myosin complex ATP binding|actin 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 GGCCAGCACCGAGATCTTGGC 0.597000 0 27 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69033155 69033155 + Splice_Site SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:69033155G>A uc003xxv.1 + 30 3623 c.3596_splice c.e30-1 p.E1199_splice NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1199 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGTTTATTTAGAATTTCAACA 0.398000 24 13 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901387 13901387 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:13901387G>A uc003jfd.2 - 13 2068 c.2026C>T c.(2026-2028)Ctc>Ttc p.L676F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 676 Stem (By similarity). 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) CTGTGGAAGAGGACCTCAAAC 0.498000 Kartagener syndrome 45 31 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214625207 214625207 + Silent SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:214625207A>C uc001hkk.2 - 2 938 c.285T>G c.(283-285)ctT>ctG p.L95L PTPN14_uc021piy.1_5'UTR|PTPN14_uc010pty.2_5'UTR NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 95 FERM. 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) CTCCAAAGAAAAGCAAAGGCT 0.478000 46 88 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121028698 121028698 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:121028698C>T uc010rzo.2 + 12 4454 c.4454C>T c.(4453-4455)tCc>tTc p.S1485F NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1485 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) ACCAAGACCTCCTACTGCCTG 0.667000 35 20 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715352 92715352 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:92715352G>A uc001pdk.1 + 1 1066 c.963G>A c.(961-963)agG>agA p.R321R NM_005959 NP_005950 P49286 MTR1B_HUMAN Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. 321 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity p.R321S(2) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AATACAAGAGGATCCTCTTGG 0.532000 198 137 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66459117 66459117 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:66459117C>T uc021xzk.1 + 28 4418 c.4110C>T c.(4108-4110)tcC>tcT p.S1370S MAST4_uc003jut.2_Silent_p.S1181S|MAST4_uc003juw.3_Silent_p.S1109S|MAST4_uc003jux.3_5'Flank NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 1373 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGCGAAAGTCCGCCGGCAACA 0.687000 105 92 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51215327 51215327 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:51215327C>T uc002psx.1 - 5 856 c.837G>A c.(835-837)cgG>cgA p.R279R NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 279 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GGGTCAGCCCCCGACGGTCCT 0.592000 61 41 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50054000 50054000 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:50054000C>T uc004dox.4 + 5 3129 c.2831C>T c.(2830-2832)tCc>tTc p.S944F CCNB3_uc004doy.3_Missense_Mutation_p.S944F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 944 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding p.S944Y(6) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AAGGAGTTGTCCTTCAAGGAG 0.463000 103 72 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118227657 118227657 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:118227657C>T uc004era.4 - 9 1456 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 486 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGCTTCTTTTCGTTGATTTCT 0.433000 49 30 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102632434 102632434 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:102632434C>T uc002tbm.3 + 3 663 c.434C>T c.(433-435)tCa>tTa p.S145L IL1R2_uc002tbn.3_Missense_Mutation_p.S145L|IL1R2_uc002tbo.1_Missense_Mutation_p.S145L NM_004633 NP_775465 P27930 IL1R2_HUMAN Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA. 145 Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) TTAACCTTGTCAACCTCTGGG 0.418000 55 44 0 0 1 0 0 C5orf58 133874 broad.mit.edu 37 5 169661144 169661144 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:169661144G>A uc010jjn.3 + 1 88 c.5G>A c.(4-6)aGa>aAa p.R2K C5orf58_uc003mal.2_Non-coding_Transcript NM_001102609 NP_001096079 C9J3I9 CE058_HUMAN Homo sapiens chromosome 5 open reading frame 58 (C5orf58), mRNA. 2 large_intestine(1)|lung(4)|urinary_tract(1) 6 TCTGAAATGAGAGAAATTGCA 0.403000 32 27 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307350 140307350 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140307350G>A uc003lih.2 + 0 1049 c.873G>A c.(871-873)ggG>ggA p.G291G PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.G291G NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 315 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAAAAGTGGGGAGGTGCAAG 0.547000 51 47 0 0 1 0 0 ENO2 2026 broad.mit.edu 37 12 7025601 7025601 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:7025601C>T uc001qru.1 + 2 328 c.106C>T c.(106-108)Ccc>Tcc p.P36S ENO2_uc009zfi.1_Missense_Mutation_p.P36S|ENO2_uc010sfq.1_Missense_Mutation_p.P36S|ENO2_uc001qrv.1_Missense_Mutation_p.P36S NM_001975 NP_001966 P09104 ENOG_HUMAN Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA. 36 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GGCTGCAGTGCCCAGTGGAGC 0.552000 23 10 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698856 113698856 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:113698856C>T uc003kqo.3 + 0 841 c.384C>T c.(382-384)ttC>ttT p.F128F NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA. 128 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GCGCCCTGTTCGAAAAGCGCA 0.627000 22 27 0 0 1 0 0 SMYD5 10322 broad.mit.edu 37 2 73450573 73450573 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:73450573C>T uc002siw.2 + 8 825 c.796C>T c.(796-798)Cat>Tat p.H266Y SMYD5_uc010yre.1_Missense_Mutation_p.H150Y NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN Homo sapiens SMYD family member 5 (SMYD5), mRNA. 266 SET. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 CCAGTGGGTCCATGCCTGTGA 0.592000 113 83 0 0 1 0 0 LIMD1 8994 broad.mit.edu 37 3 45714242 45714242 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:45714242G>A uc003coq.3 + 4 1751 c.1702G>A c.(1702-1704)Gag>Aag p.E568K NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN Homo sapiens LIM domains containing 1 (LIMD1), mRNA. 568 LIM zinc-binding 2.|Necessary for nuclear localization. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CATCTGTAATGAGTGTTTGGA 0.537000 20 69 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433107 55433107 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55433107G>A uc010rik.2 + 0 465 c.465G>A c.(463-465)atG>atA p.M155I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGCACGCAATGATACAACTTC 0.468000 112 96 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325440 31325440 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:31325440A>G uc010dmg.1 + 11 5683 c.5628A>G c.(5626-5628)caA>caG p.Q1876Q ASXL3_uc002kxq.2_Silent_p.Q1583Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1876 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 CATTTAAGCAAGAATGGCTAA 0.507000 222 183 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46969249 46969249 + Splice_Site SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:46969249C>T uc001jea.3 - 2 365 c.212_splice c.e2+1 p.R71_splice SYT15_uc001jdz.2_Splice_Site_p.R71_splice|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 71 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCTGCCTCACCTGCTCAGTTG 0.612000 56 20 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134125787 134125787 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:134125787C>T uc003ytw.3 + 43 7735 c.7694C>T c.(7693-7695)tCt>tTt p.S2565F TG_uc010mdw.3_Missense_Mutation_p.S1324F|TG_uc011ljb.2_Missense_Mutation_p.S934F|TG_uc011ljc.2_Missense_Mutation_p.S698F NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2565 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) TGGTATTACTCTCTGGAGCAC 0.562000 43 56 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166892933 166892933 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:166892933C>T uc002udo.4 - 17 3281 c.3054G>A c.(3052-3054)agG>agA p.R1018R SCN1A_uc010fpk.3_Silent_p.R990R|SCN1A_uc021vsb.1_Silent_p.R1007R NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1018 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) CTTTGTGCATCCTATCCACAG 0.348000 28 26 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96178727 96178727 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:96178727C>T uc001yfc.4 - 1 257 c.127G>A c.(127-129)Gat>Aat p.D43N TCL1A_uc001yfb.4_Missense_Mutation_p.D43N NM_001098725 NP_068801 P56279 TCL1A_HUMAN Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA. 43 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TGTAACCTATCCTTTATCTGA 0.572000 T TRA@ T-CLL 52 34 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128922436 128922436 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:128922436C>T uc004euu.3 + 2 365 c.183C>T c.(181-183)acC>acT p.T61T SASH3_uc011muo.1_5'UTR NM_018990 NP_061863 O75995 SASH3_HUMAN Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA. 61 breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 GTGTCCCCACCCCAGAAGATG 0.542000 56 48 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164761879 164761879 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:164761879G>A uc001gct.3 + 2 877 c.414G>A c.(412-414)ggG>ggA p.G138G PBX1_uc010pku.2_Silent_p.G138G|PBX1_uc001gcs.3_Silent_p.G138G|PBX1_uc010pkv.2_Silent_p.G55G|PBX1_uc010pkw.1_Silent_p.G28G NM_002585 NP_002576 P40424 PBX1_HUMAN Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA. 138 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 cTTCTGGAGGGGCAGGTTCAG 0.592000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 52 37 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490650 65490650 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:65490650G>A uc002aon.2 - 8 2155 c.1974C>T c.(1972-1974)ggC>ggT p.G658G NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 658 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CAGAGAACATGCCATACGTCC 0.532000 71 56 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53045673 53045673 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:53045673C>T uc003xqz.2 - 15 2544 c.2388G>A c.(2386-2388)agG>agA p.R796R ST18_uc011ldq.1_Silent_p.R443R|ST18_uc011ldr.1_Silent_p.R761R|ST18_uc011lds.1_Silent_p.R701R|ST18_uc003xra.2_Silent_p.R796R NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 796 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CACCACCTTTCCTTGCACGAG 0.478000 164 65 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14649168 14649168 + Missense_Mutation SNP T C C rs137897287 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:14649168T>C uc001rbw.3 + 13 3442 c.3284T>C c.(3283-3285)gTt>gCt p.V1095A ATF7IP_uc001rbx.3_Missense_Mutation_p.V1094A|ATF7IP_uc001rby.4_Missense_Mutation_p.V1095A|ATF7IP_uc001rca.3_Missense_Mutation_p.V1095A NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 1095 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TTTGTAGGTGTTACAGTTCGA 0.373000 41 38 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963783 73963783 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:73963783C>T uc004eby.3 - 2 1226 c.609G>A c.(607-609)caG>caA p.Q203Q NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 203 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGCCTAGGAGCTGGTCTGAGA 0.448000 51 41 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121763 50121763 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:50121763G>A uc001jhd.3 - 0 518 c.438C>T c.(436-438)ctC>ctT p.L146L WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.L146L NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 146 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CTACCTCGTGGAGCTCCTTCA 0.567000 7 33 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131195655 131195655 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:131195655G>A uc003vqw.4 - 1 896 c.638C>T c.(637-639)tCa>tTa p.S213L PODXL_uc003vqx.4_Missense_Mutation_p.S213L NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 213 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) TGAACTGCTTGAAATTTTCAT 0.532000 44 38 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166795172 166795172 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:166795172G>A uc003irh.2 + 0 763 c.116G>A c.(115-117)gGg>gAg p.G39E TLL1_uc021xud.1_Missense_Mutation_p.G39E|TLL1_uc011cjn.2_Missense_Mutation_p.G39E|TLL1_uc011cjo.2_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 39 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ACTTTTGATGGGAACGAAGAG 0.567000 212 150 0 0 1 0 0 CST9L 128821 broad.mit.edu 37 20 23548955 23548955 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:23548955G>A uc002wtk.4 - 0 432 c.133C>T c.(133-135)Cgt>Tgt p.R45C NM_080610 NP_542177 Q9H4G1 CST9L_HUMAN Homo sapiens cystatin 9-like (CST9L), mRNA. 45 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) GGGAGGTAACGAGCCATGACA 0.522000 55 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076820 9076820 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:9076820G>A uc002mkp.3 - 2 10830 c.10626C>T c.(10624-10626)atC>atT p.I3542I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3543 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 CCATGGTGGTGATGGTGGTGG 0.547000 228 106 0 0 1 0 0 ACTG2 72 broad.mit.edu 37 2 74143732 74143732 + Missense_Mutation SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:74143732A>C uc002sjw.3 + 7 949 c.827A>C c.(826-828)cAt>cCt p.H276P ACTG2_uc010yrn.2_Missense_Mutation_p.H233P|ACTG2_uc010fey.3_Missense_Mutation_p.H276P NM_001615 NP_001606 P63267 ACTH_HUMAN Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA. 276 muscle contraction cytoskeleton|cytosol ATP binding p.H276Y(1) large_intestine(3)|lung(14)|skin(1) 18 GCTGGAATTCATGAGACAACC 0.488000 33 31 0 0 1 0 0 RGPD2 729857 broad.mit.edu 37 2 88125213 88125213 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:88125213G>A uc010fhc.2 - 0 74 c.36C>T c.(34-36)ctC>ctT p.L12L RGPD2_uc021vkn.1_Intron NM_001078170 NP_001071638 Q68DN6 RGPD1_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA. 0 intracellular transport binding breast(1)|pancreas(1) 2 GCACCGAGGCGAGGTACCGCT 0.701000 26 13 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48156850 48156850 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:48156850C>T uc010dbm.3 + 20 3099 c.2635C>T c.(2635-2637)Cca>Tca p.P879S ITGA3_uc010dbl.3_Missense_Mutation_p.P879S NM_005501 NP_005492 P26006 ITA3_HUMAN Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA. 879 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 ACAGCTGGATCCAGGGGGAGG 0.627000 53 41 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113346507 113346507 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:113346507G>A uc021xcn.1 + 25 3102 c.2451G>A c.(2449-2451)ttG>ttA p.L817L SIDT1_uc003eak.3_Silent_p.L812L|SIDT1_uc011big.2_Silent_p.L565L|SIDT1_uc021xcq.1_Silent_p.L271L|SIDT1_uc011bii.2_Silent_p.L265L NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 812 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TGTTAACTTTGGATGATGACC 0.463000 102 59 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19629125 19629125 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:19629125T>C uc002ykv.3 + 1 770 c.379T>C c.(379-381)Tcc>Ccc p.S127P CHODL_uc002ykr.3_Missense_Mutation_p.S86P|CHODL_uc002yks.3_Missense_Mutation_p.S86P|CHODL_uc021whr.1_Missense_Mutation_p.S86P|CHODL_uc002ykt.3_Missense_Mutation_p.S86P|CHODL_uc002yku.3_Missense_Mutation_p.S86P|CHODL_uc021whs.1_Missense_Mutation_p.S108P NM_024944 NP_001191105 Q9H9P2 CHODL_HUMAN Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA. 127 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding 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) TGGAAGCAATTCCCAGTACCG 0.502000 96 57 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17417917 17417917 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:17417917C>T uc011kye.2 + 8 1547 c.1499C>T c.(1498-1500)tCg>tTg p.S500L SLC7A2_uc011kyc.2_Missense_Mutation_p.S460L|SLC7A2_uc011kyd.2_Missense_Mutation_p.S499L NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 460 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) AGGGTAACCTCGAAGAGTGAG 0.537000 14 62 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108110643 108110643 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:108110643C>T uc003dxa.1 - 37 5511 c.5454G>A c.(5452-5454)atG>atA p.M1818I NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1818 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCTACTCCCCATCAGGGCCA 0.463000 172 96 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144077078 144077078 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:144077078C>T uc003wel.3 + 14 4841 c.4723C>T c.(4723-4725)Cgt>Tgt p.R1575C ARHGEF5_uc003wem.3_Missense_Mutation_p.R376C NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 1575 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding p.V1574F(1) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CCCAGAGGTCCGTGCACAGAA 0.577000 119 77 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41530090 41530090 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:41530090C>T uc003xok.3 - 37 4962 c.4878G>A c.(4876-4878)gtG>gtA p.V1626V NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.V1626V|ANK1_uc003xoj.3_Silent_p.V1626V|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.V1667V NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1626 55 kDa regulatory 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) CATCTGAATCCACTGTGTCGT 0.562000 43 180 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 6046307 6046307 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:6046307G>A uc001alq.2 - 1 311 c.43C>T c.(43-45)Cct>Tct p.P15S NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Intron NM_015102 NP_055917 O75161 NPHP4_HUMAN Homo sapiens nephronophthisis 4 (NPHP4), mRNA. 15 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GGGTGGGGAGGGACAAGCACG 0.577000 32 20 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581982 40581982 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:40581982C>T uc010xvh.2 - 5 518 c.370G>A c.(370-372)Gaa>Aaa p.E124K ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.E123K|ZNF780A_uc002omz.3_Missense_Mutation_p.E123K NM_001142577 NP_001136049 O75290 Z780A_HUMAN Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGTCTATATTCTGAGTCATTT 0.348000 56 30 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153070217 153070217 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:153070217C>T uc004fja.1 - 7 1169 c.919G>A c.(919-921)Gaa>Aaa p.E307K PDZD4_uc004fiy.1_Missense_Mutation_p.E226K|PDZD4_uc004fiz.1_Missense_Mutation_p.E301K|PDZD4_uc004fix.2_Missense_Mutation_p.E205K|PDZD4_uc011mze.1_Missense_Mutation_p.E192K|PDZD4_uc022chy.1_5'Flank NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 301 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCGGGGGTTCGTCCCCCAGC 0.657000 72 69 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407169 55407169 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:55407169C>T uc003jqu.3 - 9 1558 c.1406G>A c.(1405-1407)cGa>cAa p.R469Q ANKRD55_uc003jqt.3_Missense_Mutation_p.R181Q NM_024669 NP_078945 Q3KP44 ANR55_HUMAN Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA. 468 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TTTCTGAGATCGCTGGGCCAT 0.483000 99 88 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43833462 43833462 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:43833462G>A uc010skx.2 - 17 2556 c.2556C>T c.(2554-2556)ccC>ccT p.P852P ADAMTS20_uc001rno.1_Silent_p.P6P|ADAMTS20_uc001rnp.1_Silent_p.P6P NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 852 TSP type-1 2. 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) ATGGTCCATAGGGGTCCCATG 0.433000 98 64 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180486781 180486781 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:180486781G>A uc003mmt.3 + 10 1758 c.1527G>A c.(1525-1527)ggG>ggA p.G509G NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN Homo sapiens butyrophilin-like 9 (BTNL9), mRNA. 509 B30.2/SPRY. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGTTAGAGGGACGGGCGTCC 0.697000 14 17 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5786501 5786501 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:5786501A>G uc002mdc.3 - 9 1636 c.1539T>C c.(1537-1539)ggT>ggC p.G513G PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Silent_p.G271G NM_020175 NP_064560 Q96G46 DUS3L_HUMAN Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA. 513 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TCCCGGTGACACCAGTCTGCA 0.587000 70 30 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184710 72184710 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:72184710C>T uc002fcc.4 - 4 605 c.433G>A c.(433-435)Gaa>Aaa p.E145K PMFBP1_uc002fcd.3_Missense_Mutation_p.E145K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 145 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) TTTCCCATTTCCTCCTCATAG 0.507000 72 40 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515335 102515335 + Missense_Mutation SNP C G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:102515335C>G uc002cdi.3 + 8 1979 c.559C>G c.(559-561)Ctg>Gtg p.L187V WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.L386V(3) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGAGCGAAAGCTGGAGAAGAA 0.652000 52 7 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2408599 2408599 + Silent SNP G A A rs150600366 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:2408599G>A uc022brx.1 - 0 162 c.162C>T c.(160-162)atC>atT p.I54I DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.I54I|ZBED1_uc004cqg.2_Silent_p.I54I|ZBED1_uc022brw.1_Silent_p.I54I NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 54 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 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) CGGAGTAGGCGATCTGGGCCA 0.557000 124 79 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447847 24447847 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:24447847G>A uc001biq.2 - 6 1376 c.1173C>T c.(1171-1173)gcC>gcT p.A391A IL22RA1_uc010oeg.1_Silent_p.A323A|IL22RA1_uc009vrb.2_Silent_p.A255A|IL22RA1_uc010oeh.2_Intron NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA. 391 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TGGCTTGAGGGGCATAGGAGG 0.587000 108 70 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634386 180634386 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:180634386A>T uc002unn.4 - 2 701 c.97T>A c.(97-99)Ttc>Atc p.F33I NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 33 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CAGAAGGAGAAAAGAATTTTC 0.473000 65 65 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43911206 43911206 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:43911206A>T uc010dap.3 + 11 1408 c.1143A>T c.(1141-1143)gaA>gaT p.E381D CRHR1_uc010wjx.2_Missense_Mutation_p.E177D|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Missense_Mutation_p.E352D|CRHR1_uc002ijn.3_Missense_Mutation_p.E312D|CRHR1_uc010dar.3_Missense_Mutation_p.E352D|CRHR1_uc010dao.3_Missense_Mutation_p.E251D|CRHR1_uc010daq.3_Missense_Mutation_p.E177D|CRHR1_uc021tyu.1_Missense_Mutation_p.E177D NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 381 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCTTCCTGGAATCCTTCCAGG 0.597000 118 70 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101736074 101736074 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:101736074G>A uc001vox.1 - 30 3760 c.3571C>T c.(3571-3573)Ccg>Tcg p.P1191S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1191 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) GGGCGAGGCGGAAGATGAAGA 0.473000 49 31 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140793859 140793859 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140793859T>A uc003lkl.2 + 0 1117 c.1117T>A c.(1117-1119)Tta>Ata p.L373I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.L373I NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 372 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTAGCCCTTTTAAATGTGCA 0.398000 34 30 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140108750 140108750 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:140108750C>T uc004clx.3 + 5 718 c.607C>T c.(607-609)Ccg>Tcg p.P203S NDOR1_uc004clw.3_Missense_Mutation_p.P203S|NDOR1_uc011mes.2_Missense_Mutation_p.P203S|NDOR1_uc004cly.3_Missense_Mutation_p.P169S NM_001144026 NP_001137498 Q9UHB4 NDOR1_HUMAN Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA. 203 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TCAGGAGCCCCCGTCAGAGTC 0.622000 11 50 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197098447 197098447 + Splice_Site SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:197098447C>A uc001gtu.3 - 9 2887 c.2630_splice c.e9-1 p.G877_splice ASPM_uc001gtv.3_Splice_Site_p.G877_splice|ASPM_uc001gtw.4_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 877 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCTTCATGACCTTAAATAAA 0.279000 45 62 5.02462e-34 5.07633e-34 1 1 0 ZNF518B 85460 broad.mit.edu 37 4 10447782 10447782 + Silent SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:10447782A>G uc003gmn.3 - 2 658 c.171T>C c.(169-171)atT>atC p.I57I ZNF518B_uc021xme.1_Silent_p.I57I NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN Homo sapiens zinc finger protein 518B (ZNF518B), mRNA. 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CACATGTAGCAATGGTCATCA 0.483000 173 123 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71010324 71010324 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:71010324C>T uc001jpf.4 + 11 1885 c.1752C>T c.(1750-1752)ttC>ttT p.F584F HKDC1_uc010qje.2_Silent_p.F447F NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 584 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCGCCGACTTCCTGGACTACA 0.562000 35 126 0 0 1 0 0 SPDYE7P 441251 broad.mit.edu 37 7 72336983 72336983 + RNA SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:72336983G>A uc010lal.1 - 0 c.2673C>T Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. AGGGGAGGCCGGCCCGGCTGA 0.522000 255 194 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206225374 206225374 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:206225374G>A uc001hds.2 + 0 1092 c.934G>A c.(934-936)Gat>Aat p.D312N NM_000707 NP_000698 P47901 V1BR_HUMAN Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA. 312 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GAATGCCCCTGATGAAGGCAA 0.562000 133 72 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945503 55945503 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:55945503G>A uc010spp.2 + 0 493 c.493G>A c.(493-495)Gat>Aat p.D165N NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 GACCCAGGTAGATTTCTGTGT 0.473000 149 106 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36081023 36081023 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:36081023C>T uc010gmt.1 + 4 1690 c.1690C>T c.(1690-1692)Ccc>Tcc p.P564S CLIC6_uc002yuf.1_Missense_Mutation_p.P546S NM_053277 NP_444507 Q96NY7 CLIC6_HUMAN Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA. 564 GST C-terminal. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GACCCAACATCCCGAATCTAA 0.403000 40 30 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538735 4538735 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:4538735G>A uc002mau.3 - 1 272 c.261C>T c.(259-261)ctC>ctT p.L87L PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 87 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) CGCCCTGGAGGAGGTTGGCTG 0.627000 38 40 0 0 1 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12266803 12266803 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:12266803C>T uc001att.3 + 9 1201 c.1112C>T c.(1111-1113)tCc>tTc p.S371F TNFRSF1B_uc001atu.3_Missense_Mutation_p.S176F|TNFRSF1B_uc009vnk.3_Non-coding_Transcript NM_001066 NP_001057 P20333 TNR1B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA. 371 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GCAGATTCTTCCCCTGGTGGC 0.602000 105 76 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255687 16255687 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:16255687G>A uc001axk.1 + 10 3156 c.2952G>A c.(2950-2952)agG>agA p.R984R SPEN_uc010obp.1_Silent_p.R943R NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 984 Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein 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) TGGAAGCCAGGAAAAGGCGCT 0.498000 36 28 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175311 133175311 + Silent SNP C T T rs144877200 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:133175311C>T uc002ttl.3 + 0 1165 c.696C>T c.(694-696)ctC>ctT p.L232L NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 232 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGTCTACCTCGTGGTCCTGC 0.617000 60 56 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119750786 119750786 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:119750786T>G uc002tln.1 + 15 1471 c.1339T>G c.(1339-1341)Tgc>Ggc p.C447G MARCO_uc010yyf.1_Missense_Mutation_p.C369G NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 447 SRCR. 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 GGGGACAATTTGCGATGACGA 0.517000 168 103 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20344831 20344831 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:20344831C>T uc001vwh.1 + 0 405 c.405C>T c.(403-405)gtC>gtT p.V135V NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGCTTCTGTCATTAGTCCCC 0.453000 212 102 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43796763 43796763 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:43796763C>T uc002zbb.2 - 10 1282 c.1081G>A c.(1081-1083)Gcc>Acc p.A361T TMPRSS3_uc002zay.2_Missense_Mutation_p.A118T|TMPRSS3_uc002zaz.2_Missense_Mutation_p.A234T|TMPRSS3_uc002zba.2_Missense_Mutation_p.A234T|TMPRSS3_uc002zbc.2_Missense_Mutation_p.A360T NM_024022 NP_076927 P57727 TMPS3_HUMAN Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. 361 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 AAAGGGACGGCCGCGTGGTTC 0.597000 231 140 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56558150 56558150 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:56558150G>A uc001skb.3 - 26 3611 c.3505C>T c.(3505-3507)Caa>Taa p.Q1169* SMARCC2_uc001skd.3_Nonsense_Mutation_p.Q1107*|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Nonsense_Mutation_p.Q1106*|SMARCC2_uc010sqf.2_Intron NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA. 1169 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GCAGGGCTTTGGGCTGCGGCG 0.652000 98 82 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145560240 145560240 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:145560240G>A uc001eob.1 + 7 834 c.726G>A c.(724-726)ctG>ctA p.L242L ANKRD35_uc010oyx.1_Silent_p.L85L NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 242 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGCAGGCCCTGAGCCGGCGGC 0.557000 67 61 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214171380 214171380 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:214171380C>T uc001hkh.3 + 1 1774 c.1502C>T c.(1501-1503)tCc>tTc p.S501F PROX1_uc001hkg.1_Missense_Mutation_p.S501F NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 501 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding p.S501S(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GGTGCTCCCTCCGGCTCCTTC 0.562000 70 121 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159683778 159683778 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:159683778G>A uc001ftw.3 - 1 316 c.212C>T c.(211-213)tCg>tTg p.S71L CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 71 Pentaxin. YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671). acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GGTGGCATACGAGAAAATACT 0.448000 70 56 0 0 1 0 0 SLC25A33 84275 broad.mit.edu 37 1 9633421 9633421 + Silent SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:9633421T>C uc001apw.3 + 4 656 c.433T>C c.(433-435)Tta>Cta p.L145L NM_032315 NP_115691 Q9BSK2 S2533_HUMAN Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA. 145 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CACAAATTCCTTAATGAATCC 0.284000 24 26 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585807 82585807 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:82585807G>A uc003uhx.2 - 4 4751 c.4462C>T c.(4462-4464)Cct>Tct p.P1488S PCLO_uc003uhv.2_Missense_Mutation_p.P1488S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1419 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 TTGCTGGAAGGAATATCTTGT 0.348000 27 17 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107590 168107590 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:168107590C>T uc002udx.3 + 8 9777 c.9688C>T c.(9688-9690)Cgt>Tgt p.R3230C XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3055C|XIRP2_uc010fpq.3_Missense_Mutation_p.R3008C|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3055 actin cytoskeleton organization cell junction actin binding p.R3230P(1) 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 GATAGAAACTCGTGGTAGGGA 0.448000 46 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498297 179498297 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:179498297G>A uc021vsy.1 - 180 35310 c.35085C>T c.(35083-35085)ttC>ttT p.F11695F MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5390F|TTN_uc021vta.1_Silent_p.F5323F|TTN_uc021vtb.1_Silent_p.F5198F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12622 Glu-rich.|Pro-rich. 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) CACCATCTTTGAACCATTTCA 0.408000 42 25 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196642283 196642283 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:196642283G>A uc001gtj.4 + 1 474 c.234G>A c.(232-234)agG>agA p.R78R CFH_uc001gti.4_Silent_p.R78R|CFH_uc009wyw.3_Silent_p.R78R|CFH_uc009wyx.3_Silent_p.R78R NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 78 Sushi 1. R -> G (in AHUS1). complement activation, alternative pathway extracellular space p.L77S(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ATCCATTAAGGAAATGTCAGA 0.333000 79 112 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101476917 101476917 + Silent SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:101476917A>T uc003dvk.1 + 8 1494 c.1467A>T c.(1465-1467)atA>atT p.I489I CEP97_uc010hpm.1_Silent_p.I455I|CEP97_uc011bhf.1_Silent_p.I430I|CEP97_uc003dvl.1_Silent_p.I185I|CEP97_uc003dvm.1_Silent_p.I327I NM_024548 NP_078824 Q8IW35 CEP97_HUMAN Homo sapiens centrosomal protein 97kDa (CEP97), mRNA. 489 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 AGCCAACAATAATCAGTGCTA 0.368000 99 58 0 0 1 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159781843 159781843 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:159781843C>T uc003lyd.3 - 1 315 c.311G>A c.(310-312)cGa>cAa p.R104Q NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA. 59 Collagen-like. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 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) AAAGCCCATTCGTCCCATCAT 0.662000 20 25 0 0 1 0 0 NOP58 51602 broad.mit.edu 37 2 203142701 203142701 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:203142701C>T uc002uzb.3 + 2 301 c.151C>T c.(151-153)Cag>Tag p.Q51* NOP58_uc010zhv.1_Nonsense_Mutation_p.Q51*|SNORD70_uc021vvh.1_5'Flank NM_015934 NP_057018 Q9Y2X3 NOP58_HUMAN Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA. 51 cell growth|rRNA processing|snRNP protein import into nucleus Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 TGAGAAATTTCAGGATACAGC 0.308000 100 54 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348541 140348541 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:140348541G>A uc003lii.3 + 0 2795 c.2190G>A c.(2188-2190)aaG>aaA p.K730K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.K730K NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 730 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCATCAAGTGCTACCGCT 0.423000 62 51 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 30072639 30072639 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:30072639G>A uc001usl.4 + 11 3851 c.3793G>A c.(3793-3795)Gag>Aag p.E1265K MTUS2_uc001usm.4_Missense_Mutation_p.E234K|MTUS2_uc010aau.3_Missense_Mutation_p.E144K|MTUS2_uc010tdq.2_Missense_Mutation_p.E17K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 1255 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GCAAATACACGAGCAAGAAAA 0.443000 53 33 0 0 1 0 0 ARAF 369 broad.mit.edu 37 X 47426121 47426121 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:47426121C>T uc011mlp.2 + 6 835 c.641C>T c.(640-642)tCc>tTc p.S214F ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Missense_Mutation_p.S80F|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA. 214 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S214F(2) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CGCTCCACGTCCACTCCCAAC 0.662000 48 40 0 0 1 0 0 HMOX2 3163 broad.mit.edu 37 16 4557778 4557778 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:4557778A>G uc002cwr.4 + 4 576 c.269A>G c.(268-270)gAc>gGc p.D90G HMOX2_uc010bts.3_Missense_Mutation_p.D90G|HMOX2_uc002cwq.4_Missense_Mutation_p.D90G|HMOX2_uc010btt.3_Missense_Mutation_p.D90G|HMOX2_uc002cwt.3_Missense_Mutation_p.D90G NM_001127204 NP_002125 P30519 HMOX2_HUMAN Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA. 90 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) CGCAACAAGGACCATCCAGCC 0.562000 74 40 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6851122 6851122 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:6851122C>T uc002knc.3 + 3 3688 c.477C>T c.(475-477)tcC>tcT p.S159S ARHGAP28_uc002kne.3_Silent_p.S52S|ARHGAP28_uc010wzi.2_Missense_Mutation_p.P42L|ARHGAP28_uc002knf.3_Silent_p.S43S NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 0 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CAAGTGGTTCCATGGTAAGTT 0.428000 51 41 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31091618 31091618 + Nonsense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:31091618C>T uc002eap.3 + 1 4262 c.3973C>T c.(3973-3975)Cag>Tag p.Q1325* ZNF646_uc021tgu.1_Nonsense_Mutation_p.Q1325* NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 1325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CGAGACGGGCCAGTACAGCTG 0.692000 22 28 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245849093 245849093 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:245849093C>T uc001ibf.1 + 11 3248 c.2808C>T c.(2806-2808)atC>atT p.I936I KIF26B_uc001ibg.1_Silent_p.I554I|KIF26B_uc001ibh.1_Silent_p.I178I NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 936 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) TGGACTGCATCGACGGCAGCG 0.637000 43 36 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7774673 7774673 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:7774673C>T uc011bwk.1 - 15 2400 c.2127G>A c.(2125-2127)aaG>aaA p.K709K AFAP1_uc003gkg.1_Silent_p.K625K|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript NM_001134647 NP_001128119 Q8N556 AFAP1_HUMAN Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA. 646 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 GCTCCGCCTCCTTCTGCCGGC 0.657000 43 23 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834437 125834438 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:125834437_125834438CC>AT uc001uhe.1 + 1 500_501 c.492_493CC>AT c.(490-495)ttccct>ttATct p.164_165FP>LS TMEM132B_uc021rgl.1_Missense_Mutation_p.54_55FP>LS NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 164 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) TGTTTGCTTTCCCTGAGGCCAG 0.584000 96 42 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68419072 68419072 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:68419072G>A uc003xxq.4 - 5 842 c.586C>T c.(586-588)Cat>Tat p.H196Y CPA6_uc003xxr.4_Missense_Mutation_p.H48Y|CPA6_uc003xxs.2_Missense_Mutation_p.H196Y NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 196 Substrate binding (By similarity). proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TCTCTTGCATGAATACCACAG 0.423000 72 126 0 0 1 0 0 ZNF410 57862 broad.mit.edu 37 14 74364873 74364873 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:74364873C>T uc010arz.2 + 5 989 c.539C>T c.(538-540)cCa>cTa p.P180L ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.P163L|ZNF410_uc001xpb.2_Missense_Mutation_p.P163L|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.P90L|ZNF410_uc010tuj.2_5'UTR NM_001242924 NP_001229853 Q86VK4 ZN410_HUMAN Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA. 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.00369) AGTAGCATTCCATGGTTCCTC 0.507000 119 80 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451472 138451472 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:138451472G>A uc003ihe.4 - 0 2158 c.1771C>T c.(1771-1773)Ccc>Tcc p.P591S PCDH18_uc003ihf.4_Missense_Mutation_p.P584S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P371S|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 591 Cadherin 6. 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) GCCCCTTTGGGAATGGTGATT 0.458000 247 148 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58570951 58570951 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:58570951T>A uc002ybe.3 + 11 2041 c.1730T>A c.(1729-1731)tTc>tAc p.F577Y CDH26_uc002ybf.1_Missense_Mutation_p.F157Y|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA. 577 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GTGCCACTCTTCATTGGAGAC 0.478000 53 39 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539800 56539800 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:56539800G>A uc002qmj.3 + 6 2201 c.2201G>A c.(2200-2202)cGg>cAg p.R734Q NLRP5_uc002qmi.3_Missense_Mutation_p.R715Q NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 734 mitochondrion|nucleolus ATP binding p.R734P(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCGTATTTGCGGAAAATTCGG 0.507000 217 141 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855816 79855816 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr5:79855816G>A uc010jam.3 - 3 373 c.23C>T c.(22-24)tCa>tTa p.S8L ANKRD34B_uc003kgw.3_Missense_Mutation_p.S8L|ANKRD34B_uc010jan.3_Missense_Mutation_p.S8L|ANKRD34B_uc021yax.1_Missense_Mutation_p.S8L NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA. 8 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TCCTTCACTTGAAATTTCCAT 0.443000 46 18 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37111138 37111138 + Missense_Mutation SNP C A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:37111138C>A uc002rpn.3 - 8 1132 c.1123G>T c.(1123-1125)Ggt>Tgt p.G375C STRN_uc010ezx.3_Missense_Mutation_p.G338C NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 375 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) GAAGGTGAACCCACAGATGGC 0.443000 32 35 7.53189e-24 7.60229e-24 1 1 0 DOCK8 81704 broad.mit.edu 37 9 339064 339064 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:339064C>T uc003zgf.2 + 12 1593 c.1481C>T c.(1480-1482)tCa>tTa p.S494L DOCK8_uc011lls.1_Missense_Mutation_p.S494L|DOCK8_uc022bcu.1_Missense_Mutation_p.S426L|DOCK8_uc010mgv.3_Missense_Mutation_p.S426L|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.S426L|DOCK8_uc022bct.1_Non-coding_Transcript NM_203447 NP_001180465 Q8NF50 DOCK8_HUMAN Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA. 494 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TACAAAAGATCATCATCCTTA 0.398000 13 28 0 0 1 0 0 TNNT2 7139 broad.mit.edu 37 1 201331115 201331115 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:201331115C>T uc001gwf.3 - 12 705 c.636G>A c.(634-636)cgG>cgA p.R212R TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_Silent_p.R205R|TNNT2_uc001gwg.3_Silent_p.R202R|TNNT2_uc001gwh.3_Silent_p.R193R|TNNT2_uc001gwi.3_Silent_p.R172R|TNNT2_uc009wzr.3_Silent_p.R143R NM_000364 NP_000355 P45379 TNNT2_HUMAN Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA. 215 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 TCTTCTTTTCCCGCTCAGTCT 0.577000 OREG0014076 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 194 181 0 0 1 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206904533 206904533 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:206904533C>T uc001hem.2 + 6 1028 c.818C>T c.(817-819)cCg>cTg p.P273L MAPKAPK2_uc001hel.2_Missense_Mutation_p.P273L NM_032960 NP_116584 P49137 MAPK2_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA. 273 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|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|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GCCATCTCTCCGGGCATGAAG 0.527000 225 96 0 0 1 0 0 JHDM1D 80853 broad.mit.edu 37 7 139820289 139820289 + Silent SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:139820289A>C uc003vvm.3 - 7 1096 c.1092T>G c.(1090-1092)gcT>gcG p.A364A JHDM1D_uc010lng.3_5'Flank NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 364 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TCCCCCCAAAAGCCATACAGT 0.378000 112 63 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21526238 21526238 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:21526238G>A uc002kuq.3 + 69 9427 c.9341G>A c.(9340-9342)gGg>gAg p.G3114E LAMA3_uc002kur.3_Missense_Mutation_p.G3058E|LAMA3_uc002kus.4_Missense_Mutation_p.G1505E|LAMA3_uc002kut.4_Missense_Mutation_p.G1449E NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 3114 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTCCATCAGGGAAACCAAAG 0.448000 60 39 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31139282 31139282 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:31139282G>A uc010qdz.2 - 6 487 c.52C>T c.(52-54)Cct>Tct p.P18S ZNF438_uc001ivn.3_5'UTR|ZNF438_uc010qdy.2_Missense_Mutation_p.P8S|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.P18S|ZNF438_uc001ivp.4_Missense_Mutation_p.P8S|ZNF438_uc010qea.2_Missense_Mutation_p.P18S|ZNF438_uc010qeb.2_Missense_Mutation_p.P18S|ZNF438_uc010qec.1_5'UTR NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GTTCCAGAAGGGATGTTTGAT 0.368000 42 44 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546107 11546107 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:11546107C>T uc010shk.1 - 2 940 c.905G>A c.(904-906)gGa>gAa p.G302E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGAGA 0.597000 350 240 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938507 14938507 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:14938507G>A uc002mzw.3 - 0 770 c.547C>T c.(547-549)Cag>Tag p.Q183* OR7A5_uc010xoa.2_Nonsense_Mutation_p.Q183* NM_017506 NP_059976 Q15622 OR7A5_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TGGATGACCTGATTAAGTTCA 0.443000 68 53 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876092 2876092 + Missense_Mutation SNP A T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:2876092A>T uc022aqr.1 - 51 8326 c.7936T>A c.(7936-7938)Ttt>Att p.F2646I CSMD1_uc011kwj.2_Missense_Mutation_p.F1976I|CSMD1_uc010lrg.3_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2647 Sushi 17. 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) TTGCACGTAAATATAGCTGTG 0.478000 39 150 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872723 55872723 + Missense_Mutation SNP T A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:55872723T>A uc010riy.2 + 0 205 c.205T>A c.(205-207)Ttt>Att p.F69I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S68P(1) 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) TCACCTGTCATTTATTGACCT 0.428000 HNSCC(53;0.14) 281 110 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104176327 104176327 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:104176327C>T uc001kvg.1 - 1 996 c.469G>A c.(469-471)Gac>Aac p.D157N PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D157N|PSD_uc001kvi.1_Missense_Mutation_p.D157N|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 157 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGGAGTGGGTCTGATGTGGAT 0.657000 7 24 0 0 1 0 0 MCM9 254394 broad.mit.edu 37 6 119245226 119245226 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr6:119245226A>G uc021zeh.1 - 1 386 c.371T>C c.(370-372)tTa>tCa p.L124S MCM9_uc003pyh.3_Missense_Mutation_p.L124S NM_017696 NP_060166 Q9NXL9 MCM9_HUMAN Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA. 124 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) AGTGACAGATAAAAAGTGTCC 0.438000 63 235 0 0 1 0 0 OR2T5 401993 broad.mit.edu 37 1 248652000 248652000 + Silent SNP G A A rs143666885 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:248652000G>A uc001iem.1 + 0 111 c.111G>A c.(109-111)gtG>gtA p.V37V NM_001004697 NP_001004697 Q6IEZ7 OR2T5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2) 9 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) TCATCTTTGTGGTTTTCCTGA 0.478000 211 84 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321802 52321802 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:52321802G>A uc003xqu.4 - 16 2483 c.2382C>T c.(2380-2382)acC>acT p.T794T PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 794 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity 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) TGTGGTCGGGGGTGACGGCCG 0.731000 12 6 0 0 1 0 0 APOOL 139322 broad.mit.edu 37 X 84306435 84306435 + Missense_Mutation SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:84306435T>C uc004eem.3 + 2 182 c.161T>C c.(160-162)gTt>gCt p.V54A APOOL_uc010nmp.3_Intron NM_198450 NP_940852 Q6UXV4 APOOL_HUMAN Homo sapiens apolipoprotein O-like (APOOL), mRNA. 54 extracellular region central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTAAATATGTTGAAGAGCAG 0.443000 106 77 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149191301 149191301 + Silent SNP G A A rs139163284 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:149191301G>A uc010lpi.2 - 1 589 c.318C>T c.(316-318)tcC>tcT p.S106S ZNF746_uc003wfw.2_Silent_p.S106S NM_001163474 NP_001156946 Q6NUN9 ZN746_HUMAN Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA. 106 KRAB. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CTACCTTAGGGGACTCCCCCT 0.657000 126 64 0 0 1 0 0 GABRR3 200959 broad.mit.edu 37 3 97711708 97711708 + RNA SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:97711708C>T uc021xbo.1 - 8 c.1209G>A NM_001105580 A8MPY1 GBRR3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA. gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity large_intestine(2)|lung(1) 3 TTCCTGTCTTCTTGAATTGTT 0.473000 207 115 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173108 5173108 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:5173108C>T uc010qyy.2 - 0 492 c.492G>A c.(490-492)ctG>ctA p.L164L NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 164 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCACTTTATCAGTACTAGGC 0.453000 76 72 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44091429 44091429 + Splice_Site SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:44091429A>G uc003tjp.4 + 3 238 c.140_splice c.e3-1 p.E47_splice DBNL_uc003tjo.4_Splice_Site_p.E47_splice|DBNL_uc003tjq.4_Splice_Site_p.E47_splice|DBNL_uc011kbm.2_Splice_Site_p.E47_splice|DBNL_uc011kbo.2_Intron|DBNL_uc011kbp.2_Splice_Site_p.E47_splice|DBNL_uc011kbq.2_Intron|DBNL_uc011kbn.2_Intron|DBNL_uc011kbr.2_Splice_Site|DBNL_uc011kbs.2_5'Flank NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA. 47 ADF-H. Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 TCTGCTGCAGAGGGTGGCCTG 0.597000 48 52 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712502 218712502 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:218712502G>A uc002vgt.2 - 16 2761 c.2363C>T c.(2362-2364)cCt>cTt p.P788L TNS1_uc002vgr.2_Missense_Mutation_p.P788L|TNS1_uc002vgs.2_Missense_Mutation_p.P788L|TNS1_uc010zjv.1_Missense_Mutation_p.P788L|TNS1_uc010fvj.1_Missense_Mutation_p.P856L|TNS1_uc010fvk.1_Missense_Mutation_p.P913L|TNS1_uc010fvi.1_Missense_Mutation_p.P475L NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 788 cytoplasm|cytoskeleton|focal adhesion actin binding p.P788S(1) 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) CCTGCCAGGAGGGACAGACTC 0.577000 79 49 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229568468 229568468 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:229568468G>A uc001htm.3 - 2 394 c.289C>T c.(289-291)Cgc>Tgc p.R97C NM_001100 NP_001091 P68133 ACTS_HUMAN Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA. 97 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGAGCCACGCGAAGCTCGTTG 0.572000 241 113 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9001894 9001894 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:9001894G>A uc002mkp.3 - 52 40558 c.40354C>T c.(40354-40356)Cct>Tct p.P13452S MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P269S|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13454 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 GAGGTATCAGGAGCTGAGGAG 0.507000 25 22 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119589 3119589 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:3119589C>T uc010vrc.2 + 0 675 c.675C>T c.(673-675)ttC>ttT p.F225F NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA. 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CCACAGTCTTCCAGGTTCCTT 0.478000 152 119 0 0 1 0 0 PPTC7 160760 broad.mit.edu 37 12 110983803 110983804 + Silent DNP GG AA AA TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:110983803_110983804GG>AA uc001trh.1 - 2 711_712 c.483_484CC>TT c.(481-486)ttcctg>ttTTtg p.161_162FL>FL NM_139283 NP_644812 Q8NI37 PPTC7_HUMAN Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA. 161 PP2C-like. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 CTGACAACCAGGAAGCCTGAAT 0.550000 62 42 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141629994 141629994 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:141629994G>A uc003vwv.1 - 6 674 c.477C>T c.(475-477)ttC>ttT p.F159F CLEC5A_uc011krm.1_Missense_Mutation_p.S135L|CLEC5A_uc003vww.1_Silent_p.F158F|CLEC5A_uc010lnq.1_Silent_p.F136F|CLEC5A_uc010lnr.1_Non-coding_Transcript NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 159 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TCGCACAGTTGAAATTCTGAT 0.393000 75 58 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960001 73960001 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:73960001C>T uc004eby.3 - 2 5008 c.4391G>A c.(4390-4392)gGa>gAa p.G1464E NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1464 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CATGTGCTTTCCCTTACATTT 0.453000 90 74 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462785 224462785 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:224462785G>A uc021vxk.1 - 0 1216 c.1216C>T c.(1216-1218)Caa>Taa p.Q406* SCG2_uc002vnm.3_Nonsense_Mutation_p.Q406* NM_003469 NP_003460 P13521 SCG2_HUMAN Homo sapiens secretogranin II (SCG2), mRNA. 406 MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ATCCTATTTTGGAACAGGTCT 0.517000 70 50 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6693046 6693046 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:6693046G>A uc002mfm.3 - 25 3341 c.3279C>T c.(3277-3279)atC>atT p.I1093I NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1093 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AGTCGATGGCGATGAGGTTGA 0.597000 141 109 0 0 1 0 0 SDAD1 55153 broad.mit.edu 37 4 76902587 76902587 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr4:76902587G>A uc003hje.4 - 2 351 c.232C>T c.(232-234)Cct>Tct p.P78S SDAD1_uc003hjf.4_5'UTR|SDAD1_uc011cbr.2_Missense_Mutation_p.P78S NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA. 78 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACCTCTTGAGGAAAATTACTT 0.408000 99 47 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9560890 9560890 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr20:9560890G>A uc002wnl.2 - 4 1437 c.892C>T c.(892-894)Cca>Tca p.P298S PAK7_uc002wnk.2_Missense_Mutation_p.P298S|PAK7_uc002wnj.2_Missense_Mutation_p.P298S|PAK7_uc010gby.1_Missense_Mutation_p.P298S NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 298 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCTCCAAATGGCATCATCGGT 0.547000 178 123 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084811 248084811 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:248084811C>T uc010pzc.2 + 0 492 c.492C>T c.(490-492)ttC>ttT p.F164F NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA. 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCTGAGCTTCCCATATTGCG 0.577000 29 14 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184299160 184299160 + Missense_Mutation SNP T G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:184299160T>G uc003foz.3 + 14 3289 c.2852T>G c.(2851-2853)tTt>tGt p.F951C NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 951 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGTGCGGGGTTTGCATCTTTT 0.587000 67 59 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152370931 152370931 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:152370931C>T uc021vrb.1 - 129 17954 c.17925G>A c.(17923-17925)agG>agA p.R5975R NEB_uc002txr.3_Silent_p.R2441R|NEB_uc002txu.3_Silent_p.R7676R|NEB_uc021vrc.1_Silent_p.R7676R|NEB_uc010fnx.3_Silent_p.R5963R|NEB_uc021vrd.1_Silent_p.R5975R|NEB_uc002txt.4_Silent_p.R480R NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 5975 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol 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) CTAGATCTTTCCTGTACTCTT 0.393000 142 105 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50102853 50102853 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:50102853C>T uc002poo.4 + 4 4003 c.4003C>T c.(4003-4005)Ccc>Tcc p.P1335S NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 514 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGTGCCACATCCCCCACCTTC 0.697000 8 9 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124390507 124390507 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:124390507C>T uc001lgk.1 + 45 5775 c.5669C>T c.(5668-5670)tCa>tTa p.S1890L DMBT1_uc001lgl.1_Missense_Mutation_p.S1880L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1262L|DMBT1_uc021qaf.1_Missense_Mutation_p.S1890L|DMBT1_uc021qag.1_Missense_Mutation_p.S1880L|DMBT1_uc021qah.1_Missense_Mutation_p.S1262L|DMBT1_uc009xzz.1_Missense_Mutation_p.S1890L|DMBT1_uc010qtx.1_Missense_Mutation_p.S610L|DMBT1_uc009yab.1_Missense_Mutation_p.S593L|DMBT1_uc009yac.1_Missense_Mutation_p.S184L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1890 SRCR 14. 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 Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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) AATTTAAATTCATCCTATGGT 0.478000 13 29 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32502582 32502582 + Nonsense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr21:32502582G>A uc002yow.1 - 25 4466 c.3994C>T c.(3994-3996)Cga>Tga p.R1332* TIAM1_uc011adk.1_Nonsense_Mutation_p.R1332*|TIAM1_uc011adl.1_Nonsense_Mutation_p.R1272* NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 1332 PH 2. 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 Rho guanyl-nucleotide exchange factor activity|receptor signaling protein 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 ATCATGTGTCGAAATCTGAAG 0.507000 188 129 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6876188 6876188 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:6876188G>A uc002knc.3 + 9 4326 c.1115G>A c.(1114-1116)gGa>gAa p.G372E ARHGAP28_uc002kne.3_Missense_Mutation_p.G265E|ARHGAP28_uc010wzi.2_Missense_Mutation_p.G247E|ARHGAP28_uc002knf.3_Missense_Mutation_p.G256E NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 247 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CGACTTTCAGGATGTACTGCT 0.388000 68 53 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33562347 33562347 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:33562347C>T uc009vug.3 + 5 865 c.793C>T c.(793-795)Cca>Tca p.P265S ADC_uc001bwr.3_Missense_Mutation_p.P265S|ADC_uc001bws.3_Missense_Mutation_p.P265S|ADC_uc009vue.3_Missense_Mutation_p.P265S|ADC_uc001bwt.1_Missense_Mutation_p.P170S|ADC_uc001bwu.3_Missense_Mutation_p.P170S|ADC_uc001bwv.3_Missense_Mutation_p.P170S|ADC_uc001bwx.1_Missense_Mutation_p.P242S|ADC_uc009vuf.1_Missense_Mutation_p.P107S|ADC_uc001bwy.1_Missense_Mutation_p.P114S|ADC_uc001bwz.1_Missense_Mutation_p.P265S NM_052998 NP_443724 Q96A70 ADC_HUMAN Homo sapiens arginine decarboxylase (ADC), mRNA. 265 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CCTGTACTTCCCAGAGGGCTG 0.522000 113 85 0 0 1 0 0 BC101079 0 broad.mit.edu 37 15 102292770 102292770 + Nonsense_Mutation SNP C T T rs149751844 by1000genomes TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr15:102292770C>T uc010usj.2 + 3 417 c.358C>T c.(358-360)Cga>Tga p.R120* DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank Homo sapiens cDNA clone IMAGE:40009338. AGCGGCGCGACGAGATGCTGC 0.597000 28 3 0 0 1 0 0 RPL39 6170 broad.mit.edu 37 X 118923891 118923891 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:118923891C>T uc004erx.1 - 1 154 c.87G>A c.(85-87)atG>atA p.M29I SNORA69_uc004ery.1_5'Flank NM_001000 NP_000991 P62891 RL39_HUMAN Homo sapiens ribosomal protein L39 (RPL39), mRNA. 29 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 TTCCAGTTTTCATCCGAATCC 0.408000 82 42 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9051556 9051556 + Missense_Mutation SNP G C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:9051556G>C uc001mhi.2 - 17 2282 c.2207C>G c.(2206-2208)aCt>aGt p.T736S SCUBE2_uc021qdk.1_Missense_Mutation_p.T212S|SCUBE2_uc001mhj.2_Missense_Mutation_p.T638S NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA. 764 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) ACATCGGTGAGTGGTGGTGTT 0.403000 50 32 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54694330 54694330 + Silent SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:54694330G>A uc002lgk.1 + 27 4576 c.4365G>A c.(4363-4365)gcG>gcA p.A1455A WDR7_uc002lgl.1_Silent_p.A1422A NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 1455 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TGCAGCCCGCGTCCCCCGGCT 0.617000 61 32 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55179210 55179210 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:55179210G>A uc002qgp.3 + 10 1528 c.1166G>A c.(1165-1167)aGa>aAa p.R389K LILRB4_uc002qgq.3_Missense_Mutation_p.R388K|LILRB4_uc010ert.3_Missense_Mutation_p.R430K|LILRB4_uc010eru.3_Missense_Mutation_p.R419K NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 389 integral to membrane|plasma membrane antigen binding|receptor activity p.R389R(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ACAAAGGACAGACAGGCAGAA 0.587000 69 39 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136344106 136344106 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:136344106C>T uc004cee.3 - 0 171 c.76G>A c.(76-78)Gac>Aac p.D26N SLC2A6_uc004cef.3_Missense_Mutation_p.D26N|SLC2A6_uc004ceg.3_Missense_Mutation_p.D26N|SLC2A6_uc011mdj.1_Missense_Mutation_p.D26N NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA. 26 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CGCGCCCTGTCCCCTGGCGAC 0.761000 1 13 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122625501 122625501 + Splice_Site SNP T C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr12:122625501T>C uc001ubq.3 + 16 2617 c.2509_splice c.e16-1 p.F837_splice MLXIP_uc001ubt.3_Splice_Site_p.F444_splice NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN Homo sapiens MLX interacting protein (MLXIP), mRNA. 837 Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CACACTGCAGTTCAGCATCAT 0.602000 107 82 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197639610 197639610 + Missense_Mutation SNP A G G TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:197639610A>G uc003fyo.3 - 7 1045 c.899T>C c.(898-900)aTg>aCg p.M300T IQCG_uc003fyn.3_Missense_Mutation_p.M202T|IQCG_uc003fyp.3_Missense_Mutation_p.M300T NM_001134435 NP_115639 Q9H095 IQCG_HUMAN Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA. 300 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TTCGGTTTTCATCCTGAGTTT 0.483000 177 126 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115168055 115168055 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:115168055G>A uc001efd.1 - 3 1253 c.551C>T c.(550-552)tCa>tTa p.S184L DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.S184L NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 184 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TATTCCGTATGAACTATCCAG 0.383000 48 35 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77298181 77298181 + Silent SNP A C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:77298181A>C uc004ecx.4 + 19 4060 c.3900A>C c.(3898-3900)ggA>ggC p.G1300G NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 1300 G -> E (in MNKD). ATP biosynthetic process|T-helper cell differentiation|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|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 CAATGGTGGGAGATGGAATCA 0.473000 251 157 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141631620 141631620 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr7:141631620G>A uc003vwv.1 - 5 549 c.352C>T c.(352-354)Ctt>Ttt p.L118F CLEC5A_uc011krm.1_Missense_Mutation_p.L95F|CLEC5A_uc003vww.1_Missense_Mutation_p.L117F|CLEC5A_uc010lnq.1_Missense_Mutation_p.L95F|CLEC5A_uc010lnr.1_Non-coding_Transcript NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 118 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity p.L118V(2) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) ATGTCCTGAAGAAACTTCTGG 0.373000 54 42 0 0 1 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43283949 43283949 + RNA SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:43283949C>T uc001mxe.1 - 1 c.987G>A Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA. CTCTGTGGTTCATAAGCCATC 0.443000 20 18 0 0 1 0 0 CENPI 2491 broad.mit.edu 37 X 100402952 100402952 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:100402952C>T uc004egx.3 + 18 2166 c.1896C>T c.(1894-1896)ttC>ttT p.F632F CENPI_uc011mrg.2_Silent_p.F632F NM_006733 NP_006724 Q92674 CENPI_HUMAN Homo sapiens centromere protein I (CENPI), mRNA. 632 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AGTTCAATTTCAGCAGCAAGA 0.363000 93 53 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56233203 56233203 + Missense_Mutation SNP G A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:56233203G>A uc010wno.2 + 0 689 c.689G>A c.(688-690)gGa>gAa p.G230E MSX2P1_uc002ivn.3_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCCCACTCGGGAAAGGCAAGG 0.507000 54 30 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52741658 52741658 + Silent SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:52741658C>T uc001wzq.3 + 1 1158 c.1056C>T c.(1054-1056)tcC>tcT p.S352S NM_000953 NP_000944 Q13258 PD2R_HUMAN Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA. 352 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GCAGCAATTCCACTAACATGG 0.368000 17 10 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197172734 197172734 + Missense_Mutation SNP C T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:197172734C>T uc002utm.1 - 10 2693 c.2510G>A c.(2509-2511)cGa>cAa p.R837Q HECW2_uc002utl.1_Missense_Mutation_p.R481Q NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 837 Interaction with TP73.|WW 1. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGCTGTCGGTCGCTGCCACGT 0.567000 57 46 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813782 123813782 + Missense_Mutation SNP G A A rs76969055 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:123813782G>A uc010sab.2 - 0 764 c.764C>T c.(763-765)tCc>tTc p.S255F NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S255Y(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGAAAGATGGAACTGCCATA 0.522000 91 57 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:120612003_120612004delGG uc001eik.3 - 0 314_315 c.17_18delCC c.(16-18)cccfs p.P6fs NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 6 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(4) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome --- 47 --- --- 7 --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:147091501delC uc001epq.3 + 7 2280 c.1540delC c.(1540-1542)cccfs p.P514fs BCL9_uc010ozr.1_Frame_Shift_Del_p.P440fs NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 514 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL --- 339 --- --- 10 --- CDC42BPA 8476 broad.mit.edu 37 1 227288840 227288857 + In_Frame_Del DEL TCATAAAAGATACTTTTC - - rs67804260 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr1:227288840_227288857delTCATAAAAGATACTTTTC uc001hqr.3 - 14 3028_3045 c.2085_2102delGAAAAGTATCTTTTATGA c.(2083-2103)aagaaaagtatcttttatgaa>aaa p.KSIFYE696del CDC42BPA_uc001hqq.3_5'UTR|CDC42BPA_uc001hqs.3_In_Frame_Del_p.KSIFYE615del|CDC42BPA_uc009xes.3_In_Frame_Del_p.KSIFYE696del|CDC42BPA_uc010pvs.2_In_Frame_Del_p.KSIFYE696del NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 696 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.K697fs*2(2) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TAATTCTTCTTCATAAAAGATACTTTTCTTTTCCAAAT 0.307 --- 78 --- --- 17 --- MYT1L 23040 broad.mit.edu 37 2 1907023 1907023 + Frame_Shift_Del DEL A - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr2:1907023delA uc002qxe.3 - 13 2688 c.1861delT c.(1861-1863)tacfs p.Y621fs MYT1L_uc002qxd.3_Frame_Shift_Del_p.Y619fs|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 621 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTGTTTCTGTAGCCATACTGA 0.468 --- 38 --- --- 29 --- GPX1 2876 broad.mit.edu 37 3 49395674 49395676 + In_Frame_Del DEL GCC - - rs56041243 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:49395674_49395676delGCC uc021wxw.1 - 0 116_118 c.36_38delGGC c.(34-39)gcggcc>gcc p.12_13AA>A GPX1_uc021wxx.1_In_Frame_Del_p.12_13AA>A NM_000581 NP_000572 P07203 GPX1_HUMAN Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA. 12 UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion cytosol|mitochondrion SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity p.A12_A13delAA(2) breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCGACTGGgccgccgccgccg 0.690 --- 4 --- --- 2 --- CCDC80 151887 broad.mit.edu 37 3 112358682 112358682 + Frame_Shift_Del DEL T - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:112358682delT uc003dzf.3 - 1 289 c.71delA c.(70-72)cacfs p.H24fs CCDC80_uc011bhv.2_Frame_Shift_Del_p.H24fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.H24fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.H24fs NM_199512 NP_955806 Q76M96 CCD80_HUMAN Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA. 24 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GGCATGGGGGTGGGGTTCTGA 0.557 --- 153 --- --- 7 --- BCHE 590 broad.mit.edu 37 3 165548196 165548196 + Frame_Shift_Del DEL T - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:165548196delT uc003fem.4 - 1 786 c.626delA c.(625-627)aatfs p.N209fs BCHE_uc003fen.4_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN Homo sapiens butyrylcholinesterase (BCHE), mRNA. 209 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding p.N209Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GGCTGCTATATTTTTTTGAAC 0.458 --- 181 --- --- 7 --- TRA2B 6434 broad.mit.edu 37 3 185637260 185637262 + In_Frame_Del DEL TCC - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr3:185637260_185637262delTCC uc003fpv.3 - 6 1021_1023 c.745_747delGGA c.(745-747)ggadel p.G249del TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_In_Frame_Del_p.G149del NM_004593 NP_001230808 P62995 TRA2B_HUMAN Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA. 249 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus RNA binding|nucleotide binding|protein binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 CAGCTCTCCAtcctcctcctcct 0.404 --- 127 --- --- 7 --- ATAD2 29028 broad.mit.edu 37 8 124384893 124384893 + Frame_Shift_Del DEL T - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr8:124384893delT uc003yqh.4 - 2 462 c.354delA c.(352-354)aaafs p.K118fs ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.K118fs NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.E119fs*8(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TGTGCTCTTCTTTTTTTTTAT 0.269 --- 332 --- --- 12 --- FAM22F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr9:97080945_97080947delAGA uc004aup.1 - 6 2092_2094 c.2071_2073delTCT c.(2071-2073)tctdel p.S691del NM_017561 NP_060031 A1L443 FA22F_HUMAN Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA. 691 Missing (in Ref. 2; AAI30391 and 3; CAB61394). p.S557delS(1) central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1) 19 Acute lymphoblastic leukemia(62;0.136) TGCTGGCAGGAGAAGGTGATGGG 0.611 --- 2 --- --- 6 --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr10:81070787_81070789delCTC uc001kaf.2 + 23 3514_3516 c.2942_2944delCTC c.(2941-2946)gctcct>gct p.P986del ZMIZ1_uc001kag.2_In_Frame_Del_p.P862del|ZMIZ1_uc010qlq.1_Intron NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 986 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 --- 192 --- --- 8 --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:281553_281555delGAG uc010qvs.2 + 3 1819_1821 c.1819_1821delGAG c.(1819-1821)gagdel p.E611del NLRP6_uc010qvt.2_In_Frame_Del_p.E611del NM_138329 NP_612202 P59044 NALP6_HUMAN Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA. 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 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;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 --- 287 --- --- 9 --- HRAS 3265 broad.mit.edu 37 11 533880 533881 + Frame_Shift_Del DEL GC - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:533880_533881delGC uc001lpv.3 - 2 363_364 c.175_176delGC c.(175-177)gccfs p.A59fs HRAS_uc010qvw.2_Frame_Shift_Del_p.A59fs|HRAS_uc010qvx.2_Frame_Shift_Del_p.A59fs|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 59 Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.A59T(2)|p.A59A(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTCCTGGCCGGCGGTATCCAGG 0.604 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) --- 183 --- --- 119 --- LRP4 4038 broad.mit.edu 37 11 46921521 46921522 + Frame_Shift_Ins INS - G G rs35014453 TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr11:46921521_46921522insG uc001ndn.4 - 3 565_566 c.322_323insC c.(322-324)cggfs p.R108fs LRP4_uc009ylh.2_Frame_Shift_Ins_p.R59fs NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 108 Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CTCACACTCCCGGGGGGCTGTG 0.609 --- 108 --- --- 47 --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - T T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr13:79918806_79918807insT uc001vkz.2 - 14 2201_2202 c.2187_2188insA c.(2185-2190)aaacagfs p.K729fs RBM26_uc001vky.2_Frame_Shift_Ins_p.K700fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.K703fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.K439fs|RBM26_uc010tia.2_Frame_Shift_Ins_p.K84fs NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN Homo sapiens RNA binding motif protein 26 (RBM26), mRNA. 727 mRNA processing RNA binding|nucleotide binding|protein binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 --- 45 --- --- 8 --- abParts 0 broad.mit.edu 37 14 106573362 106573364 + RNA DEL ACC - - rs2003432 by1000genomes TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr14:106573362_106573364delACC uc021ser.1 - 1890 c.35331_35333delGGT Parts of antibodies, mostly variable regions. ATATGGTACTACCACTACTACTA 0.522 --- 481 --- --- 9 --- DNAJA3 9093 broad.mit.edu 37 16 4475962 4475962 + Frame_Shift_Del DEL C - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:4475962delC uc002cwk.3 + 0 157 c.80delC c.(79-81)gccfs p.A27fs DNAJA3_uc002cwl.3_Frame_Shift_Del_p.A27fs|DNAJA3_uc010uxk.2_5'UTR NM_005147 NP_005138 Q96EY1 DNJA3_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 27 activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 GGTAGAGGGGCCCGGCCGCCC 0.721 --- 7 --- --- 5 --- IL27 246778 broad.mit.edu 37 16 28511201 28511201 + Frame_Shift_Del DEL T - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr16:28511201delT uc002dqc.3 - 4 526 c.503delA c.(502-504)gagfs p.E168fs NPIPL1_uc010vct.2_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN Homo sapiens interleukin 27 (IL27), mRNA. 168 Glu-rich. inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 ctcctcttcctcctcctcctc 0.672 --- 4 --- --- 2 --- KPNB1 3837 broad.mit.edu 37 17 45755530 45755530 + Frame_Shift_Del DEL A - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr17:45755530delA uc002ilt.1 + 17 2558 c.2222delA c.(2221-2223)cagfs p.Q741fs KPNB1_uc010wkw.1_Frame_Shift_Del_p.Q596fs|KPNB1_uc010wkx.1_Frame_Shift_Del_p.Q525fs NM_002265 NP_002256 Q14974 IMB1_HUMAN Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA. 741 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 ACTCTTCAGCAGGCCTCCCAA 0.428 --- 111 --- --- 94 --- ADNP2 22850 broad.mit.edu 37 18 77894260 77894261 + Frame_Shift_Ins INS - C C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr18:77894260_77894261insC uc002lnw.3 + 3 1419_1420 c.964_965insC c.(964-966)tccfs p.S322fs NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 322 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A325fs*59(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CCTCACTCATTCCCCCCCTGCT 0.644 --- 180 --- --- 7 --- NWD1 284434 broad.mit.edu 37 19 16908642 16908642 + Frame_Shift_Del DEL T - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:16908642delT uc002neu.4 + 15 3826 c.3404delT c.(3403-3405)gttfs p.V1135fs NWD1_uc002net.4_Frame_Shift_Del_p.V1000fs|NWD1_uc002nev.4_Frame_Shift_Del_p.V929fs|NWD1_uc021uqg.1_Frame_Shift_Del_p.V1000fs NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1135 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 GAGACGGCTGTTTTTGGTACT 0.552 --- 699 --- --- 9 --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr19:19136394delT uc002nkz.1 - 2 825 c.805delA c.(805-807)atafs p.I269fs SUGP2_uc002nkx.2_Frame_Shift_Del_p.I255fs|SUGP2_uc002nla.1_Frame_Shift_Del_p.I255fs|SUGP2_uc002nlb.2_Frame_Shift_Del_p.I255fs|SUGP2_uc010xqk.1_Intron NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 255 RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGGTGGGTATTTTTTTTGTG 0.502 --- 345 --- --- 8 --- MED15 51586 broad.mit.edu 37 22 20918793 20918795 + In_Frame_Del DEL CAG - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:20918793_20918795delCAG uc002zsp.3 + 5 588_590 c.508_510delCAG c.(508-510)cagdel p.Q174del MED15_uc002zsn.1_In_Frame_Del_p.Q93del|MED15_uc002zso.2_In_Frame_Del_p.Q103del|MED15_uc002zsq.3_In_Frame_Del_p.Q174del|MED15_uc010gso.3_In_Frame_Del_p.Q174del|MED15_uc002zsr.3_In_Frame_Del_p.Q148del|MED15_uc011ahs.2_In_Frame_Del_p.Q148del|MED15_uc011aht.1_In_Frame_Del_p.Q148del|MED15_uc002zss.3_In_Frame_Del_p.Q93del|MED15_uc011ahu.2_5'Flank NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA. 174 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209) gcagcagttccagcagcagcagc 0.616 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 44 --- --- 8 --- LGALS1 3956 broad.mit.edu 37 22 38074623 38074624 + Frame_Shift_Ins INS - A A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chr22:38074623_38074624insA uc003atn.3 + 2 320_321 c.223_224insA c.(223-225)gagfs p.E75fs NM_002305 NP_002296 P09382 LEG1_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 1 (LGALS1), mRNA. 75 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity endometrium(1)|large_intestine(1)|lung(1) 3 Melanoma(58;0.0574) CGAGCAGCGGGAGGCTGTCTTT 0.688 --- 6 --- --- 35 --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T - - TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f9d1e6c-a778-45f7-ba1f-e5a654682a0f ba23b700-550d-41b6-ac36-91ab1dd5df41 g.chrX:154157686delT uc004fmt.3 - 13 4550 c.4379delA c.(4378-4380)aatfs p.N1460fs NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1460 B. N -> K (in HEMA). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(3)|p.N1460fs*2(3) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 --- 147 --- --- 8 ---