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 ARHGEF16 27237 broad.mit.edu 37 1 3389688 3389688 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:3389688G>A uc001akg.4 + 6 1317 c.1069G>A c.(1069-1071)Gag>Aag p.E357K ARHGEF16_uc001aki.3_Missense_Mutation_p.E69K|ARHGEF16_uc001akj.3_Missense_Mutation_p.E69K|ARHGEF16_uc009vli.1_Missense_Mutation_p.E61K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.E61K NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA. 357 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GGTGCTGGTCGAGGACATCAG 0.632 MAST2 23139 broad.mit.edu 37 1 46500629 46500629 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:46500629C>T uc001cov.3 + 28 4571 c.4288C>T c.(4288-4290)Ctt>Ttt p.L1430F MAST2_uc001cow.3_Missense_Mutation_p.L1429F|MAST2_uc001cpa.3_Non-coding_Transcript NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 1430 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CAAGCACAGCCTTGACCTGCC 0.592 CC2D1B 200014 broad.mit.edu 37 1 52820329 52820329 + Missense_Mutation SNP A A G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:52820329A>G uc001ctq.2 - 22 2550 c.2399T>C c.(2398-2400)cTg>cCg p.L800P CC2D1B_uc001ctr.3_Missense_Mutation_p.L340P|CC2D1B_uc001cts.3_Missense_Mutation_p.L485P NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA. 800 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 CTCCAGTTTCAGGTGTGCTGT 0.567 PIAS3 10401 broad.mit.edu 37 1 145584562 145584562 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:145584562G>A uc001eoc.1 + 11 1620 c.1529G>A c.(1528-1530)aGt>aAt p.S510N PIAS3_uc001eod.1_Missense_Mutation_p.S179N NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA. 510 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCTGTCCAGTCTCCCACTA 0.592 FLG 2312 broad.mit.edu 37 1 152286200 152286200 + Missense_Mutation SNP G G T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:152286200G>T uc001ezu.1 - 2 1198 c.1162C>A c.(1162-1164)Cac>Aac p.H388N AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 388 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G387D(1)|p.G387R(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGCTGGTGGCCGGATCCA 0.577 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152323312 152323312 + Missense_Mutation SNP T T G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:152323312T>G uc001ezw.4 - 2 7023 c.6950A>C c.(6949-6951)cAg>cCg p.Q2317P AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2317 calcium ion binding|structural molecule activity p.Q2317K(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAACCTGTCTGTGTGGATTG 0.463 LCE3E 353145 broad.mit.edu 37 1 152538509 152538509 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:152538509C>T uc021oyz.1 - 0 176 c.176G>A c.(175-177)cGc>cAc p.R59H LCE3E_uc001faa.3_Missense_Mutation_p.R59H NM_178435 NP_848522 Q5T5B0 LCE3E_HUMAN Homo sapiens late cornified envelope 3E (LCE3E), mRNA. 59 keratinization lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) TCGGTGGTGGCGCCTGTGGTG 0.682 CD5L 922 broad.mit.edu 37 1 157805716 157805716 + Silent SNP A A G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:157805716A>G uc001frk.4 - 2 428 c.285T>C c.(283-285)agT>agC p.S95S NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 95 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTCCTGTGCAACTGACTGATT 0.493 ZNF124 7678 broad.mit.edu 37 1 247320190 247320190 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:247320190C>T uc001ick.3 - 3 873 c.734G>A c.(733-735)tGt>tAt p.C245Y ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.C183Y NM_003431 NP_003422 Q15973 ZN124_HUMAN Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA. 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R244C(1) biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) GGAACTGAGACAACTGAAAGC 0.458 PGBD2 267002 broad.mit.edu 37 1 249212440 249212440 + Missense_Mutation SNP T T A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr1:249212440T>A uc001ifh.3 + 2 1804 c.1657T>A c.(1657-1659)Tgg>Agg p.W553R PGBD2_uc001ifg.3_Missense_Mutation_p.W302R|PGBD2_uc009xhd.3_Missense_Mutation_p.W550R|PGBD2_uc021pmh.1_Missense_Mutation_p.W302R NM_170725 NP_001017434 Q6P3X8 PGBD2_HUMAN Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA. 553 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GATTGGGCACTGGATTATCCA 0.547 LRIT1 26103 broad.mit.edu 37 10 85992166 85992166 + Silent SNP G G A rs142074653 byFrequency TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:85992166G>A uc001kcz.1 - 3 1411 c.1389C>T c.(1387-1389)taC>taT p.Y463Y NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA. 463 Fibronectin type-III. integral to endoplasmic reticulum membrane p.Y463Y(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 CAAAGACCGCGTAGAGGACAC 0.582 PTEN 5728 broad.mit.edu 37 10 89692785 89692785 + Missense_Mutation SNP T T C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:89692785T>C uc001kfb.3 + 4 1301 c.269T>C c.(268-270)tTt>tCt p.F90S PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 90 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.F90fs*9(4)|p.Y27fs*1(2)|p.F90S(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90_P95>L(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAATATCCTTTTGAAGACCAT 0.338 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PTEN 5728 broad.mit.edu 37 10 89720847 89720847 + Frame_Shift_Del DEL C C - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:89720847delC uc001kfb.3 + 7 2030 c.998delC c.(997-999)gccfs p.A333fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 333 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAAGACAAAGCCAACCGATAC 0.328 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) SORCS1 114815 broad.mit.edu 37 10 108923743 108923743 + Missense_Mutation SNP G G C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:108923743G>C uc001kyl.3 - 0 724 c.542C>G c.(541-543)tCt>tGt p.S181C SORCS1_uc021pxw.1_Missense_Mutation_p.S181C|SORCS1_uc009xxs.3_Missense_Mutation_p.S181C|SORCS1_uc001kym.3_Missense_Mutation_p.S181C|SORCS1_uc001kyn.2_Missense_Mutation_p.S181C|SORCS1_uc001kyo.3_Missense_Mutation_p.S181C NM_001013031 NP_001013049 Q8WY21 SORC1_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA. 181 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTTGTGGCCAGACCAGTGGAC 0.562 SMC3 9126 broad.mit.edu 37 10 112344031 112344031 + Missense_Mutation SNP G G T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:112344031G>T uc001kze.3 + 12 1308 c.1182G>T c.(1180-1182)tgG>tgT p.W394C NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA. 394 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GGGATAAGTGGATTAAAAAGG 0.383 DMBT1 1755 broad.mit.edu 37 10 124399762 124399762 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr10:124399762C>T uc001lgk.1 + 51 6868 c.6762C>T c.(6760-6762)gaC>gaT p.D2254D DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc021qaf.1_Silent_p.D2254D|DMBT1_uc021qag.1_Silent_p.D2244D|DMBT1_uc021qah.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2254 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAATTTTGACGTGAACATTT 0.463 MUC5B 727897 broad.mit.edu 37 11 1267425 1267425 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:1267425C>T uc001lta.3 + 30 9374 c.9315C>T c.(9313-9315)acC>acT p.T3105T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3105 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACCCACACCTCCACAGTGC 0.637 MUC5B 727897 broad.mit.edu 37 11 1267929 1267929 + Silent SNP T T C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:1267929T>C uc001lta.3 + 30 9878 c.9819T>C c.(9817-9819)acT>acC p.T3273T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3273 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCAGAGACTGTCCACACCT 0.642 MUC5B 727897 broad.mit.edu 37 11 1271196 1271196 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:1271196C>T uc001lta.3 + 30 13145 c.13086C>T c.(13084-13086)acC>acT p.T4362T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4362 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACCCACACCTCCACAGTGC 0.652 PAMR1 25891 broad.mit.edu 37 11 35454286 35454286 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:35454286G>A uc001mwf.3 - 11 1875 c.1832C>T c.(1831-1833)tCc>tTc p.S611F PAMR1_uc001mwg.3_Missense_Mutation_p.S594F|PAMR1_uc010rew.2_Missense_Mutation_p.S483F|PAMR1_uc010rex.2_Missense_Mutation_p.S554F NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 594 Peptidase S1. 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 AGTGATGTGGGACTCCTGGAA 0.607 LRP4 4038 broad.mit.edu 37 11 46880763 46880763 + Missense_Mutation SNP C C T rs146864522 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:46880763C>T uc001ndn.4 - 37 5732 c.5489G>A c.(5488-5490)cGa>cAa p.R1830Q LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Missense_Mutation_p.R72Q NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 1830 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|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) CCGTGAGCTTCGCAGTTGCTT 0.572 UNC93B1 81622 broad.mit.edu 37 11 67765211 67765211 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:67765211C>T uc001omw.1 - 6 920 c.840G>A c.(838-840)ccG>ccA p.P280P NM_030930 NP_112192 Q9H1C4 UN93B_HUMAN Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA. 280 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome TTCCGCTCCGCGGGAGCGTCC 0.647 CNTN5 53942 broad.mit.edu 37 11 100126601 100126601 + Missense_Mutation SNP C C A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr11:100126601C>A uc001pga.3 + 16 2619 c.2115C>A c.(2113-2115)aaC>aaA p.N705K CNTN5_uc001pfz.3_Missense_Mutation_p.N705K|CNTN5_uc021qpb.1_Missense_Mutation_p.N705K|CNTN5_uc021qpc.1_Missense_Mutation_p.N631K|CNTN5_uc010ruk.2_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 705 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCTCCTACAACCTTCAAGCTC 0.507 CACNA2D4 93589 broad.mit.edu 37 12 1992139 1992139 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:1992139G>A uc021qsx.1 - 12 1610 c.1379C>T c.(1378-1380)gCg>gTg p.A460V CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A348V NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 460 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CTGGGTGTCCGCCAGCGTTGA 0.632 PTPRO 5800 broad.mit.edu 37 12 15654855 15654855 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:15654855C>T uc001rcv.2 + 4 1433 c.963C>T c.(961-963)taC>taT p.Y321Y PTPRO_uc001rcw.2_Silent_p.Y321Y|PTPRO_uc001rcu.2_Silent_p.Y321Y NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 321 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CCATGGAATACGAAAATAACA 0.448 MLL2 8085 broad.mit.edu 37 12 49416373 49416373 + Missense_Mutation SNP C C G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:49416373C>G uc001rta.4 - 51 16338 c.16338_splice c.e51+1 p.Q5446_splice NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 5446 SET. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CAGCTCATACCTGCTCTTCGT 0.542 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) MLL2 8085 broad.mit.edu 37 12 49432216 49432216 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:49432216G>A uc001rta.4 - 33 8923 c.8923C>T c.(8923-8925)Cgc>Tgc p.R2975C NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2975 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGATTGGGGCGGCCAAGCTCA 0.577 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) KCNH3 23416 broad.mit.edu 37 12 49935518 49935518 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:49935518G>A uc001ruh.1 + 2 676 c.416G>A c.(415-417)cGa>cAa p.R139Q KCNH3_uc010smj.1_Missense_Mutation_p.R79Q NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 139 PAC. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 ACCAAGAACCGAGGGGGCCCC 0.592 CRADD 8738 broad.mit.edu 37 12 94243772 94243772 + Missense_Mutation SNP C C A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:94243772C>A uc001tda.3 + 2 429 c.325C>A c.(325-327)Cac>Aac p.H109N CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron NM_003805 NP_003796 P78560 CRADD_HUMAN Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA. 109 apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 GATCCCCTCGCACATCCTCAA 0.562 CUX2 23316 broad.mit.edu 37 12 111748245 111748245 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:111748245G>A uc001tsa.2 + 14 1813 c.1659G>A c.(1657-1659)ctG>ctA p.L553L NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 553 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGGAGCAGCTGGACACGGCAG 0.701 GPR133 283383 broad.mit.edu 37 12 131487822 131487822 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr12:131487822C>T uc010tbm.2 + 10 1774 c.1215C>T c.(1213-1215)acC>acT p.T405T GPR133_uc001uit.4_Silent_p.T373T NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 373 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G404W(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCCAGGTCACCGTGGAGGGCT 0.612 TPTE2 93492 broad.mit.edu 37 13 20039688 20039688 + Nonsense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr13:20039688G>A uc001umd.3 - 8 740 c.529C>T c.(529-531)Cga>Tga p.R177* TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 177 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CGTAGAAGTCGAACTAAATGT 0.313 SPERT 220082 broad.mit.edu 37 13 46287387 46287387 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr13:46287387C>T uc001van.1 + 2 307 c.227C>T c.(226-228)gCc>gTc p.A76V SPERT_uc001vao.2_Missense_Mutation_p.A40V NM_152719 NP_689932 Q8NA61 SPERT_HUMAN Homo sapiens spermatid associated (SPERT), mRNA. 76 cytoplasmic membrane-bounded vesicle p.A76T(1) NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CAGCAGGCCGCCCTGCCCCGG 0.662 CTAGE11P 647288 broad.mit.edu 37 13 75814354 75814354 + Missense_Mutation SNP C C G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr13:75814354C>G uc010ths.2 - 0 164 c.123G>C c.(121-123)tgG>tgC p.W41C Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA. CCACCAGTTCCCATGGAAAAC 0.488 STRN3 29966 broad.mit.edu 37 14 31425409 31425409 + Nonsense_Mutation SNP C C A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr14:31425409C>A uc001wqu.2 - 1 538 c.322G>T c.(322-324)Gag>Tag p.E108* STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_Non-coding_Transcript NM_001083893 NP_001077362 Q13033 STRN3_HUMAN Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA. 108 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity p.Q107E(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTCAGGTTCTCTTGACCTTTT 0.328 MAX 4149 broad.mit.edu 37 14 65543330 65543330 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr14:65543330G>A uc001xif.1 - 4 517 c.347C>T c.(346-348)cCc>cTc p.P116L MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_Non-coding_Transcript NM_002382 NP_002373 P61244 MAX_HUMAN Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA. 116 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GTCTGAGGAGGGGTAGTTGGT 0.587 OR4N3P 390539 broad.mit.edu 37 15 22414006 22414006 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr15:22414006G>A uc001yuf.3 + 0 545 c.305G>A c.(304-306)cGa>cAa p.R102Q abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TGTGATGTCCGACAGGTCATC 0.512 PIF1 80119 broad.mit.edu 37 15 65114493 65114493 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr15:65114493G>A uc002ant.2 - 3 855 c.789C>T c.(787-789)atC>atT p.I263I PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.I263I|PIF1_uc002anu.3_3'UTR NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 263 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 TGGTGCCCCCGATGTGGCAGG 0.612 PPL 5493 broad.mit.edu 37 16 4937215 4937215 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr16:4937215G>A uc002cyd.1 - 20 2618 c.2528C>T c.(2527-2529)gCc>gTc p.A843V NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 843 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.A843V(2) breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GAACTTGGCGGCAAGTGCTGC 0.483 GLG1 2734 broad.mit.edu 37 16 74542799 74542799 + Missense_Mutation SNP G G C rs142819854 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr16:74542799G>C uc002fcx.3 - 2 546 c.496C>G c.(496-498)Cta>Gta p.L166V GLG1_uc002fcw.4_Missense_Mutation_p.L155V|GLG1_uc002fcy.4_Missense_Mutation_p.L166V|GLG1_uc002fcz.4_5'UTR NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 166 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TCTGTAGTTAGGTTCAGCTTA 0.328 CBFA2T3 863 broad.mit.edu 37 16 88945844 88945844 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr16:88945844C>T uc002fmm.2 - 10 1785 c.1496G>A c.(1495-1497)cGg>cAg p.R499Q CBFA2T3_uc002fml.2_Missense_Mutation_p.R413Q|CBFA2T3_uc002fmk.2_5'UTR NM_005187 NP_005178 O75081 MTG16_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA. 499 Mediates interaction with PRKAR2A. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CATGGCCTGCCGCTTCACCTC 0.647 T RUNX1 AML P2RX5 5026 broad.mit.edu 37 17 3582918 3582918 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:3582918C>T uc002fwi.3 - 10 1624 c.1225G>A c.(1225-1227)Gga>Aga p.G409R P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.G349R|P2RX5_uc002fwk.3_Missense_Mutation_p.G408R|P2RX5_uc002fwj.3_Missense_Mutation_p.G384R|P2RX5_uc002fwl.3_Missense_Mutation_p.G385R NM_002561 NP_002552 Q93086 P2RX5_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA. 409 nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 CACACAGATCCGTTCCCCTTC 0.672 RABEP1 9135 broad.mit.edu 37 17 5238607 5238607 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:5238607G>A uc002gbm.4 + 3 720 c.496G>A c.(496-498)Gag>Aag p.E166K RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.4_Missense_Mutation_p.E166K|RABEP1_uc002gbj.3_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K NM_004703 NP_004694 Q15276 RABE1_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA. 166 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 TGAAGGTCAAGAGGAGGAAAA 0.383 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:7578394T>C uc002gim.2 - 4 730 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCTCATGGTGGGGGCA 0.642 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) PEX12 5193 broad.mit.edu 37 17 33904306 33904306 + Missense_Mutation SNP G G C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:33904306G>C uc002hjp.3 - 1 1047 c.431C>G c.(430-432)tCt>tGt p.S144C NM_000286 NP_000277 O00623 PEX12_HUMAN Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. 144 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding p.S144C(2) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGATGAATAGAATATTCATC 0.453 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:39274206C>T uc002hvz.3 - 0 401 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(10)|p.R121R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.652 KRT38 8687 broad.mit.edu 37 17 39593757 39593757 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:39593757G>A uc002hwq.1 - 6 1701 c.1278C>T c.(1276-1278)tgC>tgT p.C426C NM_006771 NP_006762 O76015 KRT38_HUMAN Homo sapiens keratin 38 (KRT38), mRNA. 426 Tail. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GGGCAGTCACGCAGGAGGGAG 0.617 ARL17A 51326 broad.mit.edu 37 17 44594545 44594545 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr17:44594545C>T uc002iko.4 - 3 453 c.314G>A c.(313-315)gGc>gAc p.G105D LRRC37A2_uc002ikn.1_Intron NM_016632 NP_057716 Q8IVW1 ARL17_HUMAN Homo sapiens ADP-ribosylation factor-like 17A (ARL17A), transcript variant 2, mRNA. 0 protein transport|vesicle-mediated transport Golgi apparatus GTP binding lung(1) 1 ATCATTTGTGCCGGTGACCCC 0.403 CCBE1 147372 broad.mit.edu 37 18 57106776 57106776 + Missense_Mutation SNP T T G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr18:57106776T>G uc002lib.3 - 9 1021 c.951_splice c.e9+1 p.K317_splice CCBE1_uc010dpq.3_Splice_Site_p.K46_splice|CCBE1_uc002lia.3_Splice_Site_p.K170_splice NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 317 Collagen-like 2. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) AAGGCTTACCTTAGAACCATC 0.423 ADNP2 22850 broad.mit.edu 37 18 77896514 77896514 + Missense_Mutation SNP T T C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr18:77896514T>C uc002lnw.3 + 3 3673 c.3218T>C c.(3217-3219)aTa>aCa p.I1073T NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 1073 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 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) AAAAAGGAAATAGAACTGTTG 0.313 ADNP2 22850 broad.mit.edu 37 18 77896534 77896534 + Missense_Mutation SNP T T C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr18:77896534T>C uc002lnw.3 + 3 3693 c.3238T>C c.(3238-3240)Ttt>Ctt p.F1080L NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 1080 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 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) GTCCTCACTCTTTTGGGTGTG 0.328 GCDH 2639 broad.mit.edu 37 19 13008135 13008135 + Silent SNP A A T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:13008135A>T uc002mvq.3 + 9 1052 c.975A>T c.(973-975)ccA>ccT p.P325P GCDH_uc010xms.2_Silent_p.P292P|GCDH_uc002mvp.3_Silent_p.P325P|GCDH_uc010xmt.2_Silent_p.P159P|GCDH_uc010xmu.2_Silent_p.P281P NM_000159 NP_000150 Q92947 GCDH_HUMAN Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 325 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 TTGGTGTCCCACTGGCCAGGA 0.627 OR10H1 26539 broad.mit.edu 37 19 15917903 15917903 + Frame_Shift_Del DEL A A - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:15917903delA uc002nbq.2 - 0 1034 c.945delT c.(943-945)aatfs p.N315fs NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 ACATCATTACATTTTTTTCTG 0.438 PDE4C 5143 broad.mit.edu 37 19 18327614 18327614 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:18327614G>A uc010xqc.2 - 11 1902 c.1422C>T c.(1420-1422)tgC>tgT p.C474C PDE4C_uc002nik.4_Silent_p.C474C|PDE4C_uc002nil.4_Silent_p.C474C|PDE4C_uc002nig.4_Silent_p.C189C|PDE4C_uc002nih.4_Silent_p.C244C|PDE4C_uc010ebk.3_Silent_p.C368C|PDE4C_uc002nii.4_Silent_p.C442C|PDE4C_uc002nif.4_Silent_p.C243C|PDE4C_uc010ebl.3_Silent_p.C188C NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 474 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GGAAGATATCGCAGTTCTCTG 0.602 CILP2 148113 broad.mit.edu 37 19 19653191 19653191 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:19653191C>T uc002nmw.4 + 4 703 c.618C>T c.(616-618)agC>agT p.S206S CILP2_uc002nmv.4_Silent_p.S200S NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 200 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CAGGGTGCAGCCTTGACACCT 0.582 ZNF208 7757 broad.mit.edu 37 19 22154854 22154854 + Silent SNP A A T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:22154854A>T uc021urr.1 - 3 3131 c.2982T>A c.(2980-2982)atT>atA p.I994I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CTCCAGTATGAATTACCTTAT 0.348 MLL2 9757 broad.mit.edu 37 19 36222840 36222840 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:36222840C>T uc021usv.1 + 26 5469 c.5469C>T c.(5467-5469)gaC>gaT p.D1823D MLL2_uc021usu.1_Silent_p.D637D NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 440 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CCCCACTGGACACAGATGTTC 0.627 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) MEGF8 1954 broad.mit.edu 37 19 42873137 42873137 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:42873137C>T uc002otl.4 + 35 7058 c.6423C>T c.(6421-6423)acC>acT p.T2141T MEGF8_uc002otm.4_Silent_p.T1749T|MEGF8_uc002otn.4_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 2208 PSI 7. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GCTGCAAGACCGGCTATACCA 0.637 ZNF813 126017 broad.mit.edu 37 19 53994332 53994332 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr19:53994332G>A uc021uzf.1 + 0 122 c.26G>A c.(25-27)aGa>aAa p.R9K ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Silent_p.Q282Q NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN Homo sapiens zinc finger protein 813 (ZNF813), mRNA. 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CTTTCAGTCAGACGTATTCCC 0.418 IL36B 27177 broad.mit.edu 37 2 113780342 113780342 + Nonsense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:113780342C>T uc002tiq.1 - 5 508 c.404G>A c.(403-405)tGg>tAg p.W135* NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 135 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 GGAACTCTTCCACTTCTTTCT 0.438 GALNT5 11227 broad.mit.edu 37 2 158165160 158165160 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:158165160G>A uc002tzg.3 + 8 2857 c.2602G>A c.(2602-2604)Gta>Ata p.V868I GALNT5_uc010zci.2_Non-coding_Transcript NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 868 Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TAAAGGAGCCGTAAGGCTGCA 0.408 TTN 7273 broad.mit.edu 37 2 179553840 179553840 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:179553840C>T uc021vsy.1 - 121 28528 c.28303G>A c.(28303-28305)Gtc>Atc p.V9435I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10362 Ig-like 77. 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) TCCTCTGGGACGGGTTTCTTA 0.428 CCDC108 255101 broad.mit.edu 37 2 219892442 219892442 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:219892442C>T uc002vjl.1 - 12 2225 c.2141G>A c.(2140-2142)cGc>cAc p.R714H CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 714 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAGTGCAGGCGCATGGCCAT 0.597 COL6A3 1293 broad.mit.edu 37 2 238289831 238289831 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:238289831C>T uc002vwl.2 - 4 1909 c.1624G>A c.(1624-1626)Ggc>Agc p.G542S COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.3_Missense_Mutation_p.G336S|COL6A3_uc002vwr.3_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 542 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.A541A(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCCCGGTAGCCGGCTGAACTC 0.557 PER2 8864 broad.mit.edu 37 2 239161798 239161798 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:239161798G>A uc002vyc.3 - 18 3103 c.2866C>T c.(2866-2868)Ccc>Tcc p.P956S PER2_uc010znv.1_Missense_Mutation_p.P956S NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 956 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGCTGTCTGGGGATCGAGGTC 0.667 AQP12A 375318 broad.mit.edu 37 2 241631371 241631371 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr2:241631371C>T uc002vzu.3 + 0 110 c.41C>T c.(40-42)aCc>aTc p.T14I AQP12A_uc002vzv.3_Intron NM_198998 NP_945349 Q8IXF9 AQ12A_HUMAN Homo sapiens aquaporin 12A (AQP12A), mRNA. 14 integral to membrane transporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TTCTTTGCCACCTTCGCCCTC 0.677 SRXN1 140809 broad.mit.edu 37 20 629466 629466 + Silent SNP G G A rs140166119 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:629466G>A uc002wea.3 - 1 367 c.306C>T c.(304-306)taC>taT p.Y102Y SRXN1_uc002web.3_Non-coding_Transcript NM_080725 NP_542763 Q9BYN0 SRXN1_HUMAN Homo sapiens sulfiredoxin 1 (SRXN1), mRNA. 102 response to oxidative stress cytosol antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 GGTAGGCCGCGTAGCGGTGGC 0.617 PROKR2 128674 broad.mit.edu 37 20 5282783 5282783 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:5282783C>T uc010zqw.2 - 1 1066 c.1058G>A c.(1057-1059)cGt>cAt p.R353H PROKR2_uc010zqx.2_Missense_Mutation_p.R353H|PROKR2_uc010zqy.2_Missense_Mutation_p.R353H NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 353 integral to membrane|plasma membrane neuropeptide Y receptor activity p.R353H(2) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CTGGGAGGGACGCCAGTGCAG 0.557 HNSCC(71;0.22) SEL1L2 80343 broad.mit.edu 37 20 13899669 13899669 + Missense_Mutation SNP T T A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:13899669T>A uc010gcf.3 - 3 466 c.384A>T c.(382-384)gaA>gaT p.E128D SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Missense_Mutation_p.E128D|SEL1L2_uc002wor.3_Non-coding_Transcript NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA. 128 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AGACTTACTCTTCTTTTTGTT 0.343 SPAG4 6676 broad.mit.edu 37 20 34206899 34206899 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:34206899G>A uc002xdb.1 + 7 889 c.772G>A c.(772-774)Gac>Aac p.D258N SPAG4_uc010zvi.1_Missense_Mutation_p.D181N NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN Homo sapiens sperm associated antigen 4 (SPAG4), mRNA. 258 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GCGGAAGCCCGACTATGCTTT 0.592 PLCG1 5335 broad.mit.edu 37 20 39795447 39795447 + Missense_Mutation SNP T T G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:39795447T>G uc002xjp.1 + 18 2370 c.2249T>G c.(2248-2250)aTg>aGg p.M750R PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.3_Missense_Mutation_p.M100R NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 750 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TACCGCAAGATGAAGCTGCGC 0.572 PLCG1 5335 broad.mit.edu 37 20 39795453 39795453 + Missense_Mutation SNP T T A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr20:39795453T>A uc002xjp.1 + 18 2376 c.2255T>A c.(2254-2256)cTg>cAg p.L752Q PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.3_Missense_Mutation_p.L102Q NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 752 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) AAGATGAAGCTGCGCTATCCC 0.567 ERG 2078 broad.mit.edu 37 21 39795357 39795357 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr21:39795357G>A uc010gnw.3 - 4 679 c.384C>T c.(382-384)aaC>aaT p.N128N ERG_uc021wjd.1_Silent_p.N128N|ERG_uc002yxa.3_Silent_p.N121N|ERG_uc011aek.2_Silent_p.N29N|ERG_uc010gnv.3_Silent_p.N29N|ERG_uc010gnx.3_Silent_p.N128N|ERG_uc011ael.2_Silent_p.N128N|ERG_uc002yxb.3_Silent_p.N128N|ERG_uc011aem.1_Silent_p.N121N|ERG_uc002yxc.4_Silent_p.N128N NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 128 PNT. 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) CTCTGCGCTCGTTCGTGGTCA 0.602 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" UBASH3A 53347 broad.mit.edu 37 21 43867265 43867265 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr21:43867265C>T uc002zbe.3 + 14 2031 c.1947C>T c.(1945-1947)aaC>aaT p.N649N UBASH3A_uc002zbf.3_Silent_p.N611N|UBASH3A_uc010gpe.3_3'UTR|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 649 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ACGGGGCGAACGCAGCATTTA 0.527 GAL3ST1 9514 broad.mit.edu 37 22 30951882 30951882 + Silent SNP G G A rs112070427 byFrequency TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr22:30951882G>A uc003aig.1 - 3 470 c.330C>T c.(328-330)aaC>aaT p.N110N GAL3ST1_uc003aih.1_Silent_p.N110N|GAL3ST1_uc003aii.1_Silent_p.N110N|GAL3ST1_uc010gvz.1_Silent_p.N110N NM_004861 NP_004852 Q99999 G3ST1_HUMAN Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA. 110 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CATTGCGGCCGTTAGGGAAGG 0.597 LINC00207 388910 broad.mit.edu 37 22 44966379 44966379 + Splice_Site SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr22:44966379G>A uc011aqg.2 + 3 c.170_splice c.e3-1 LINC00207_uc021wre.1_Splice_Site|LINC00207_uc011aqh.2_Splice_Site Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA. lung(3) 3 CAACAAAACAGGTTCTGTTTA 0.488 PLCD1 5333 broad.mit.edu 37 3 38050824 38050824 + Missense_Mutation SNP C C A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:38050824C>A uc003chm.3 - 9 1962 c.1608G>T c.(1606-1608)caG>caT p.Q536H PLCD1_uc003chn.3_Missense_Mutation_p.Q515H NM_001130964 NP_001124436 P51178 PLCD1_HUMAN Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA. 515 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CGTAGAAGGCCTGTCCAGGGG 0.577 SCN10A 6336 broad.mit.edu 37 3 38783979 38783979 + Missense_Mutation SNP T T A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:38783979T>A uc003ciq.3 - 12 1909 c.1909A>T c.(1909-1911)Agc>Tgc p.S637C NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 637 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAGACAAGCTGGTCAAGCAG 0.512 ITIH3 3699 broad.mit.edu 37 3 52842629 52842629 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:52842629G>A uc003dfv.2 + 21 2641 c.2605G>A c.(2605-2607)Gtc>Atc p.V869I ITIH3_uc011bek.1_Missense_Mutation_p.V677I NM_002217 NP_002208 Q06033 ITIH3_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA. 869 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.V869I(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTGCTGGTTCGTCCACAACAA 0.537 ALG1L 200810 broad.mit.edu 37 3 125651539 125651539 + Silent SNP A A C rs147593769 by1000genomes TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:125651539A>C uc021xdh.1 - 3 394 c.174T>G c.(172-174)ctT>ctG p.L58L ALG1L_uc003eig.2_Silent_p.L38L NM_001195223 NP_001182152 Q6GMV1 ALG1L_HUMAN Homo sapiens asparagine-linked glycosylation 1-like (ALG1L), transcript variant 1, mRNA. 38 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 CATCAAGAGTAAGTTGTTCAA 0.423 NAALADL2 254827 broad.mit.edu 37 3 174951943 174951943 + Missense_Mutation SNP C C G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:174951943C>G uc003fit.3 + 2 855 c.768C>G c.(766-768)agC>agG p.S256R NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 256 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AAGATAGCAGCCAAGACCTGC 0.463 YEATS2 55689 broad.mit.edu 37 3 183470006 183470006 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:183470006C>T uc003fly.2 + 9 1310 c.1115C>T c.(1114-1116)tCa>tTa p.S372L NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 372 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATAAAGCAGTCACATGAGCCA 0.478 VPS8 23355 broad.mit.edu 37 3 184714255 184714255 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr3:184714255C>T uc021xik.1 + 42 3890 c.3802C>T c.(3802-3804)Cgc>Tgc p.R1268C VPS8_uc003fpb.1_Missense_Mutation_p.R1266C|VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C NM_001009921 NP_001009921 Q8N3P4 VPS8_HUMAN Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA. 1268 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GTACAAGAGACGCCAAGAAAT 0.413 DGKQ 1609 broad.mit.edu 37 4 956607 956607 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:956607C>T uc003gbw.3 - 16 2062 c.1988G>A c.(1987-1989)cGa>cAa p.R663Q DGKQ_uc010ibn.3_Missense_Mutation_p.R650Q NM_001347 NP_001338 P52824 DGKQ_HUMAN Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA. 663 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCAGGCCAGTCGGTACCGTGT 0.687 KLHL5 51088 broad.mit.edu 37 4 39116882 39116882 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:39116882G>A uc003gtr.2 + 9 2426 c.2143G>A c.(2143-2145)Ggg>Agg p.G715R KLHL5_uc003gtp.3_Missense_Mutation_p.G669R|KLHL5_uc003gtq.3_Missense_Mutation_p.G528R|KLHL5_uc003gts.3_Missense_Mutation_p.G715R|KLHL5_uc003gtt.3_Missense_Mutation_p.G654R NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA. 715 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TGCTGTTGGGGGGTATGATGG 0.458 IGJ 3512 broad.mit.edu 37 4 71527860 71527860 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:71527860C>T uc010ihz.3 - 2 326 c.185G>A c.(184-186)cGt>cAt p.R62H IGJ_uc003hfn.4_Missense_Mutation_p.R46H NM_144646 NP_653247 P01591 IGJ_HUMAN Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA. 46 immune response extracellular region antigen binding p.R61Q(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) TTCGGAAGAACGGATGATCCT 0.383 CXXC4 80319 broad.mit.edu 37 4 105412449 105412449 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr4:105412449G>A uc003hxg.3 - 0 19 c.4C>T c.(4-6)Cac>Tac p.H2Y AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN Homo sapiens CXXC finger protein 4 (CXXC4), mRNA. 2 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TTTCGGTGGTGCATGCTGGTC 0.687 CDH18 1016 broad.mit.edu 37 5 19747216 19747216 + Missense_Mutation SNP G G T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:19747216G>T uc003jgd.3 - 3 892 c.358C>A c.(358-360)Cag>Aag p.Q120K CDH18_uc011cnm.2_Missense_Mutation_p.Q120K|CDH18_uc003jgc.3_Missense_Mutation_p.Q120K|CDH18_uc021xwu.1_Missense_Mutation_p.Q120K NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 120 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGGGTCTTCTGCTCTCTGTCT 0.433 PRDM9 56979 broad.mit.edu 37 5 23523414 23523414 + Silent SNP A A G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:23523414A>G uc003jgo.3 + 8 1079 c.897A>G c.(895-897)agA>agG p.R299R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 299 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCAAGGGGAGAAACTGCTATG 0.428 HNSCC(3;0.000094) ADAMTS12 81792 broad.mit.edu 37 5 33615934 33615934 + Missense_Mutation SNP T T C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:33615934T>C uc003jia.1 - 15 2551 c.2388_splice c.e15+1 p.Q796_splice ADAMTS12_uc010iuq.1_Splice_Site_p.Q711_splice NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 796 Spacer 1. 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 CTGCATTACCTGGATCCACAC 0.473 HNSCC(64;0.19) MAP3K1 4214 broad.mit.edu 37 5 56168509 56168509 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:56168509C>T uc003jqw.4 + 7 1966 c.1465C>T c.(1465-1467)Ccc>Tcc p.P489S NM_005921 NP_005912 Q13233 M3K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA. 489 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding p.Y488Y(1) NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TTTAATATGTCCCCTTTGTAG 0.279 NAIP 4671 broad.mit.edu 37 5 70308329 70308329 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:70308329G>A uc003kar.1 - 3 1132 c.414C>T c.(412-414)taC>taT p.Y138Y NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA. 138 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding p.Y138Y(2) central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCCTTATGTCGTACTTGGCAA 0.483 FAM81B 153643 broad.mit.edu 37 5 94749771 94749771 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:94749771C>T uc003kla.1 + 3 460 c.414C>T c.(412-414)gaC>gaT p.D138D FAM81B_uc010jbe.1_5'UTR NM_152548 NP_689761 Q96LP2 FA81B_HUMAN Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA. 138 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) TCAAGGAGGACATCTCTGCTT 0.522 PCDHAC2 56141 broad.mit.edu 37 5 140215715 140215715 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:140215715C>T uc003lhq.2 + 0 1747 c.1747C>T c.(1747-1749)Cgg>Tgg p.R583W 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_uc011dac.2_Missense_Mutation_p.R583W NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 596 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) GCTTGTGCCGCGGTCTGTGGG 0.657 NMUR2 56923 broad.mit.edu 37 5 151784353 151784353 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:151784353G>A uc003luv.2 - 0 488 c.322C>T c.(322-324)Cgc>Tgc p.R108C NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 108 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GGGTAGTTGCGCCACATCTCA 0.587 TIMD4 91937 broad.mit.edu 37 5 156349123 156349123 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr5:156349123C>T uc003lwh.2 - 6 1056 c.999G>A c.(997-999)gcG>gcA p.A333A TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 333 integral to membrane p.A333A(2) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAGGAGAAACGCCACAAACA 0.517 MYLIP 29116 broad.mit.edu 37 6 16143302 16143302 + Missense_Mutation SNP A A C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:16143302A>C uc003nbq.3 + 3 753 c.516A>C c.(514-516)gaA>gaC p.E172D MYLIP_uc003nbr.3_5'UTR NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA. 172 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) CTTCAGCTGAATACCAAGTTT 0.463 VN1R10P 83954 broad.mit.edu 37 6 27293586 27293586 + Silent SNP A A G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:27293586A>G uc010jqt.3 + 0 1047 c.525A>G c.(523-525)agA>agG p.R175R NM_032030 NP_114419 SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b; TGCATCAAAGAAATCCTGATA 0.333 SLC22A7 10864 broad.mit.edu 37 6 43267438 43267438 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:43267438G>A uc021yzt.1 + 3 676 c.577G>A c.(577-579)Gtc>Atc p.V193I SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.3_Missense_Mutation_p.V191I|SLC22A7_uc003out.3_Missense_Mutation_p.V191I NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 193 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TGCAGCCTCCGTCAGCTATGT 0.587 AARS2 57505 broad.mit.edu 37 6 44270876 44270876 + Frame_Shift_Del DEL C C - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:44270876delC uc010jza.1 - 15 2185 c.2182delG c.(2182-2184)gtgfs p.V728fs TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 728 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GCCACGGGCACCCCCACTGAT 0.602 MEP1A 4224 broad.mit.edu 37 6 46806843 46806843 + Silent SNP C C T rs139598232 byFrequency TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:46806843C>T uc011dwh.1 + 12 2303 c.2295C>T c.(2293-2295)atC>atT p.I765I MEP1A_uc010jzh.1_Silent_p.I737I|MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwi.1_Silent_p.I637I NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 737 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TCTCCATCATCGCCATCCTTT 0.602 C6orf221 154288 broad.mit.edu 37 6 74073290 74073290 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr6:74073290G>A uc003pgt.4 + 2 414 c.361G>A c.(361-363)Gcc>Acc p.A121T NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA. 121 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1) 19 CTCAGGAAAGGCCCTCGCCCA 0.617 MACC1 346389 broad.mit.edu 37 7 20198221 20198221 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:20198221G>A uc003sus.4 - 4 2072 c.1763C>T c.(1762-1764)gCt>gTt p.A588V MACC1_uc010kug.3_Missense_Mutation_p.A588V NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 588 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CTGACCAATAGCTTTTACCTT 0.418 Unknown 0 broad.mit.edu 37 7 39873998 39873998 + Missense_Mutation SNP A A G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:39873998A>G LINC00265 (39776 upstream) : CDK13 (115961 downstream) GCCCTCCAGGAACACCCATTA 0.567 EGFR 1956 broad.mit.edu 37 7 55214352 55214352 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:55214352G>A uc003tqk.3 + 3 724 c.478G>A c.(478-480)Gag>Aag p.E160K EGFR_uc003tqh.3_Missense_Mutation_p.E160K|EGFR_uc003tqi.3_Missense_Mutation_p.E160K|EGFR_uc003tqj.3_Missense_Mutation_p.E160K|EGFR_uc022adm.1_Missense_Mutation_p.E160K|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.E107K NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 160 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity 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) GTGCAACGTGGAGAGCATCCA 0.552 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C T rs149840192 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:55221822C>T uc003tqk.3 + 6 1112 c.866C>T c.(865-867)gCc>gTc p.A289V EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3) 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) AGCTTTGGTGCCACCTGCGTG 0.592 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) COL1A2 1278 broad.mit.edu 37 7 94056341 94056341 + Missense_Mutation SNP G G C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:94056341G>C uc003ung.1 + 46 3598 c.3127G>C c.(3127-3129)Gct>Cct p.A1043P COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 1043 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGATCAAGGTGCTCCTGGCTC 0.458 HNSCC(75;0.22) NPTX2 4885 broad.mit.edu 37 7 98254262 98254262 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:98254262G>A uc003upl.2 + 2 849 c.672G>A c.(670-672)gcG>gcA p.A224A NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 224 synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CACCAGATGCGTTCAAGGTGT 0.602 TRRAP 8295 broad.mit.edu 37 7 98528341 98528341 + Missense_Mutation SNP G G T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:98528341G>T uc003upp.3 + 24 3688 c.3479G>T c.(3478-3480)gGt>gTt p.G1160V TRRAP_uc011kis.2_Missense_Mutation_p.G1160V|TRRAP_uc003upr.3_Missense_Mutation_p.G852V NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 1160 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAGCTGGGGGGTGTGGTGTCT 0.517 IFRD1 3475 broad.mit.edu 37 7 112112859 112112859 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:112112859C>T uc003vgh.3 + 11 1679 c.1209C>T c.(1207-1209)ccC>ccT p.P403P IFRD1_uc011kmn.2_Silent_p.P353P|IFRD1_uc003vgj.3_Silent_p.P403P|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Silent_p.P353P|IFRD1_uc003vgk.3_Silent_p.P120P NM_001007245 NP_001184009 O00458 IFRD1_HUMAN Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA. 403 LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 AACTTGGACCCCCAGTGATGC 0.353 GIMAP6 474344 broad.mit.edu 37 7 150324938 150324938 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:150324938C>T uc022apv.1 - 2 1438 c.958G>A c.(958-960)Gaa>Aaa p.E320K GIMAP6_uc003whn.3_Missense_Mutation_p.E250K|GIMAP6_uc003whm.3_3'UTR NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 250 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTTGCCTTTCCTGTAGTTCT 0.493 ABP1 26 broad.mit.edu 37 7 150558161 150558161 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr7:150558161C>T uc003why.1 + 5 6338 c.2120C>T c.(2119-2121)tCc>tTc p.S707F ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 707 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GAGGACCCCTCCCTGGCATCC 0.622 ZMAT4 79698 broad.mit.edu 37 8 40554861 40554861 + Missense_Mutation SNP G G T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:40554861G>T uc003xnr.3 - 3 398 c.252C>A c.(250-252)ttC>ttA p.F84L ZMAT4_uc003xns.3_Missense_Mutation_p.F84L NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA. 84 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CCGCTGAAGTGAATGACATGT 0.498 MCM4 4173 broad.mit.edu 37 8 48874694 48874694 + Missense_Mutation SNP G G C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:48874694G>C uc003xqk.2 + 3 1143 c.317G>C c.(316-318)gGt>gCt p.G106A PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.G106A|MCM4_uc011ldi.2_Missense_Mutation_p.G93A|MCM4_uc010lxw.2_Intron NM_182746 NP_877423 P33991 MCM4_HUMAN Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA. 106 cell cycle checkpoint|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 MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCAAGAAGTGGTGTTAGGGGC 0.527 RPL7 6129 broad.mit.edu 37 8 74205020 74205022 + In_Frame_Del DEL CTT CTT - rs151181576 TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:74205020_74205022delCTT uc003xzg.3 - 1 47_49 c.25_27delAAG c.(25-27)aagdel p.K9del RDH10_uc003xzi.3_5'Flank NM_000971 NP_000962 P18124 RL7_HUMAN Homo sapiens ribosomal protein L7 (RPL7), mRNA. 9 4 X 12 AA tandem repeats. endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) CAGGAACCTCCTTCTTCTTCTCT 0.414 VPS13B 157680 broad.mit.edu 37 8 100568723 100568723 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:100568723C>T uc003yiv.3 + 30 4977 c.4866C>T c.(4864-4866)atC>atT p.I1622I VPS13B_uc003yiw.3_Silent_p.I1597I NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1622 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GATCAGAAATCGAAGACAGAC 0.398 CSMD3 114788 broad.mit.edu 37 8 113702122 113702122 + Nonsense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr8:113702122C>T uc003ynu.3 - 13 2289 c.2130G>A c.(2128-2130)tgG>tgA p.W710* CSMD3_uc003yns.3_5'UTR|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W606* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 710 Sushi 3. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTTTGCAGACCATTGGTTAT 0.358 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) DENND4C 55667 broad.mit.edu 37 9 19360386 19360386 + Missense_Mutation SNP A A G TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr9:19360386A>G uc003znq.3 + 23 4530 c.4450A>G c.(4450-4452)Atc>Gtc p.I1484V DENND4C_uc011lnc.2_Missense_Mutation_p.I814V|DENND4C_uc011lnd.2_Missense_Mutation_p.I772V|DENND4C_uc003znr.3_Missense_Mutation_p.I772V|DENND4C_uc003zns.3_Missense_Mutation_p.I666V NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA. 1484 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TCAACATCCAATCATTTTCTG 0.388 C9orf84 158401 broad.mit.edu 37 9 114462255 114462255 + Silent SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chr9:114462255G>A uc004bfr.3 - 21 3105 c.2970C>T c.(2968-2970)aaC>aaT p.N990N C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.N951N|C9orf84_uc010mug.3_Silent_p.N901N NM_173521 NP_775792 Q5VXU9 CI084_HUMAN Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA. 990 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GTTCTTCAGAGTTTAGCCCAA 0.313 P2RY8 286530 broad.mit.edu 37 X 1584686 1584686 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:1584686C>T uc022brv.1 - 0 766 c.766G>A c.(766-768)Gtg>Atg p.V256M CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.V256M NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA. 256 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 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) GCCAGGAGCACGAAGTTGTTG 0.647 T CRLF2 """B-ALL, Downs associated ALL""" FOXR2 139628 broad.mit.edu 37 X 55650462 55650462 + Silent SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:55650462C>T uc004duo.3 + 0 630 c.318C>T c.(316-318)aaC>aaT p.N106N NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 106 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 ATCTGACAAACATTTCTCCTT 0.542 MUM1L1 139221 broad.mit.edu 37 X 105450617 105450617 + Frame_Shift_Del DEL T T - TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:105450617delT uc022cca.1 + 0 1192 c.1192delT c.(1192-1194)tttfs p.F398fs MUM1L1_uc004emg.2_Frame_Shift_Del_p.F398fs|MUM1L1_uc004emf.2_Frame_Shift_Del_p.F398fs NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 398 PWWP. 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 GATAGTCTGGTTTAAATATCA 0.358 AGTR2 186 broad.mit.edu 37 X 115304521 115304521 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:115304521C>T uc022cdd.1 + 0 988 c.988C>T c.(988-990)Cgc>Tgc p.R330C AGTR2_uc004eqh.4_Missense_Mutation_p.R330C NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 330 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity p.R330L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 ACAGAAGCTCCGCAGTGTGTT 0.463 MAGEC3 139081 broad.mit.edu 37 X 140966989 140966989 + Missense_Mutation SNP G G C TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:140966989G>C uc011mwp.2 + 2 287 c.287G>C c.(286-288)gGt>gCt p.G96A NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 96 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GGGTCCCCAGGTTTACAACTT 0.582 FLNA 2316 broad.mit.edu 37 X 153588445 153588445 + Missense_Mutation SNP C C T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrX:153588445C>T uc004fkk.2 - 21 3967 c.3718G>A c.(3718-3720)Gtg>Atg p.V1240M FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 1240 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) AAGTTGGGCACGGGCTGGCCG 0.627 PCDH11Y 83259 broad.mit.edu 37 Y 5605460 5605460 + Missense_Mutation SNP G G T TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 430e6ca1-d678-4373-8d8d-9d93412c8012 0c87c515-10e3-4b7d-8adb-6c88f04c6a22 g.chrY:5605460G>T uc004fqo.3 + 4 4234 c.3500G>T c.(3499-3501)aGc>aTc p.S1167I PCDH11Y_uc022ciy.1_5'Flank NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 1167 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTATGCCACAGCCCACCACTG 0.552