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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MFN2 9927 broad.mit.edu 37 1 12058906 12058906 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:12058906G>A uc001atn.3 + 7 1132 c.679G>A c.(679-681)GCC>ACC p.A227T MFN2_uc009vni.2_Missense_Mutation_p.A227T NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 227 Cytoplasmic (Potential). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TGTGCTGGTGGCCAACTCAGA 0.562 NA 72 80 0 0 0.00361 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52941190 52941190 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:52941190T>A uc001ctx.2 - 13 2275 c.2041A>T c.(2041-2043)AGG>TGG p.R681W ZCCHC11_uc001cty.2_Missense_Mutation_p.R681W|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R681W|ZCCHC11_uc009vze.1_Missense_Mutation_p.R681W|ZCCHC11_uc009vzf.1_Missense_Mutation_p.R440W|ZCCHC11_uc001cub.2_Missense_Mutation_p.R681W NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 681 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GCAACATTCCTCTTGACTGAA 0.403 NA 8 16 0 0 0.004482 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684273 75684273 + Nonsense_Mutation SNP G G T rs148196192 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:75684273G>T uc001dgu.2 - 17 1575 c.1431C>A c.(1429-1431)TGC>TGA p.C477* SLC44A5_uc001dgt.2_Nonsense_Mutation_p.C477*|SLC44A5_uc001dgs.2_Nonsense_Mutation_p.C435*|SLC44A5_uc001dgr.2_Nonsense_Mutation_p.C435*|SLC44A5_uc010oqz.1_Nonsense_Mutation_p.C516*|SLC44A5_uc010ora.1_Nonsense_Mutation_p.C471*|SLC44A5_uc010orb.1_Nonsense_Mutation_p.C347* NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 477 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 CAGCAAGGGCGCACTGACCTA 0.438 NA 19 123 1.01871e-10 1.34864e-10 0.008871 1 0 FNBP1L 54874 broad.mit.edu 37 1 94014886 94014886 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:94014886C>T uc001dpw.2 + 13 1380 c.1380C>T c.(1378-1380)CCC>CCT p.P460P FNBP1L_uc001dpv.2_Silent_p.P460P|FNBP1L_uc010otk.1_Silent_p.P338P|FNBP1L_uc010otl.1_Silent_p.P88P NM_001024948 NP_001020119 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like isoform 1 518 Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) GTGGGCCACCCCAGCAGCATG 0.418 NA 14 30 0 0 0.006122 0 0 MAGI3 260425 broad.mit.edu 37 1 114189171 114189171 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:114189171A>G uc001edk.2 + 12 2243 c.2062A>G c.(2062-2064)ATG>GTG p.M688V MAGI3_uc001edh.3_Missense_Mutation_p.M713V|MAGI3_uc001edi.3_Missense_Mutation_p.M688V|MAGI3_uc010owm.1_Missense_Mutation_p.M713V|MAGI3_uc001edj.2_Missense_Mutation_p.M409V NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 713 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTCAGCCTATGCCTTTTCC 0.373 NA 34 53 0 0 0.007835 0 0 FLG 2312 broad.mit.edu 37 1 152280910 152280910 + Missense_Mutation SNP C C T rs146106776 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:152280910C>T uc001ezu.1 - 3 6488 c.6452G>A c.(6451-6453)GGG>GAG p.G2151E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2151 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGTGGGACCCCTGTCTTCC 0.582 NA Ichthyosis 293 186 0 0 0.00361 0 0 PKLR 5313 broad.mit.edu 37 1 155271116 155271116 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:155271116G>T uc001fkb.3 - 1 110 c.71C>A c.(70-72)GCA>GAA p.A24E RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_5'Flank|PKLR_uc010pga.1_5'Flank NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 24 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GATGGACTTTGCTAAGTCTCT 0.537 NA 67 36 6.20995e-33 1.04849e-32 0.00361 1 0 SPTA1 6708 broad.mit.edu 37 1 158653173 158653173 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:158653173G>A uc001fst.1 - 3 577 c.378C>T c.(376-378)CAC>CAT p.H126H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 126 Spectrin 2. Missing (in Ref. 3; AAA60575). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCGTTTCTTCGTGGGCAGAAT 0.383 NA 80 50 0 0 0.00361 0 0 IGSF8 93185 broad.mit.edu 37 1 160061724 160061724 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:160061724C>T uc001fva.2 - 6 1776 c.1731G>A c.(1729-1731)CTG>CTA p.L577L IGSF8_uc001fuz.2_Silent_p.L577L|IGSF8_uc009wtf.2_Silent_p.L577L NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 577 Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ATAGGGTGTCCAGGGCTGGGG 0.562 NA 29 25 0 0 0.00632 0 0 CASQ1 844 broad.mit.edu 37 1 160171074 160171074 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:160171074C>T uc010pja.1 + 11 1356 c.1099C>T c.(1099-1101)CTG>TTG p.L367L NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 367 Asp-rich. mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAGGAGGACCTGCCTTCTGC 0.547 NA 14 9 0 0 0.003163 0 0 F11R 50848 broad.mit.edu 37 1 160969998 160969998 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:160969998G>A uc009wtt.2 - 5 799 c.529C>T c.(529-531)CCC>TCC p.P177S F11R_uc010pjv.1_Missense_Mutation_p.P128S|F11R_uc001fxe.3_Missense_Mutation_p.P177S|F11R_uc009wtu.2_Missense_Mutation_p.P177S|F11R_uc010pjw.1_Missense_Mutation_p.P181S|F11R_uc001fxf.3_Missense_Mutation_p.P177S NM_016946 NP_058642 Q9Y624 JAM1_HUMAN F11 receptor precursor 177 Ig-like V-type 2.|Extracellular (Potential). blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction ovary(2) 2 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GTGCTTTTGGGATTCGTAGGC 0.517 NA 38 84 0 0 0.004289 0 0 DCAF6 55827 broad.mit.edu 37 1 168032861 168032861 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:168032861G>T uc001gew.2 + 15 2272 c.2030G>T c.(2029-2031)CGC>CTC p.R677L DCAF6_uc001gev.2_Missense_Mutation_p.R697L|DCAF6_uc001gex.2_Missense_Mutation_p.R768L|DCAF6_uc010plk.1_Missense_Mutation_p.R737L|DCAF6_uc001gey.2_Missense_Mutation_p.R550L|DCAF6_uc001gez.2_5'UTR NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 677 IQ. positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TCATATAGACGCTCTGCTGTT 0.294 NA 6 9 5.9392e-07 7.2452e-07 0.001168 1 0 KIFAP3 22920 broad.mit.edu 37 1 170015993 170015993 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:170015993C>A uc001ggv.2 - 3 450 c.179G>T c.(178-180)AGT>ATT p.S60I KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Missense_Mutation_p.S16I NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 60 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGCATTGAGACTCTTAAGTCG 0.308 NA 42 26 6.1244e-12 8.29643e-12 0.007835 1 0 MYOC 4653 broad.mit.edu 37 1 171621320 171621320 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:171621320G>T uc001ghu.2 - 1 454 c.432C>A c.(430-432)AAC>AAA p.N144K MYOC_uc010pmk.1_Missense_Mutation_p.N86K NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 144 Potential. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTCGGAGGAGGTTGCTGTAGG 0.582 NA 33 139 3.80469e-20 5.71931e-20 0.001786 1 0 PAPPA2 60676 broad.mit.edu 37 1 176664879 176664879 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:176664879C>A uc001gkz.2 + 7 3794 c.2630C>A c.(2629-2631)TCA>TAA p.S877* PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 877 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCCAGGGCCTCAGGCAGCTTG 0.537 NA 88 53 9.45097e-43 1.68097e-42 0.00361 1 0 ASPM 259266 broad.mit.edu 37 1 197101446 197101446 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:197101446T>C uc001gtu.2 - 7 2713 c.2456A>G c.(2455-2457)TAC>TGC p.Y819C ASPM_uc001gtv.2_Missense_Mutation_p.Y819C|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 819 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CAAAGGATTGTAGGACAACAG 0.308 NA 22 45 0 0 0.005443 0 0 KDM5B 10765 broad.mit.edu 37 1 202733256 202733256 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:202733256T>C uc001gyf.2 - 6 845 c.729A>G c.(727-729)ATA>ATG p.I243M KDM5B_uc009xag.2_Missense_Mutation_p.I279M|KDM5B_uc001gyg.1_Missense_Mutation_p.I85M NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 243 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CCTCGGGTTCTATTTTAATAT 0.333 NA 10 55 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 216062172 216062172 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:216062172C>A uc001hku.1 - 41 8206 c.7819G>T c.(7819-7821)GGA>TGA p.G2607* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2607 Fibronectin type-III 12.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGGAACATCCTTTTGAAGTG 0.473 NA HNSCC(13;0.011) 62 37 5.19286e-32 8.70458e-32 0.00361 1 0 LEFTY1 10637 broad.mit.edu 37 1 226074602 226074602 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:226074602G>A uc001hpo.2 - 4 996 c.926C>T c.(925-927)CCG>CTG p.P309L LEFTY1_uc010pvj.1_3'UTR NM_020997 NP_066277 O75610 LFTY1_HUMAN left-right determination, factor B 309 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) CCCCAGAAACGGCCACTTGAA 0.667 NA 4 35 0 0 0.000248 0 0 PCNXL2 80003 broad.mit.edu 37 1 233388166 233388166 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:233388166C>A uc001hvl.2 - 7 2297 c.2062G>T c.(2062-2064)GGG>TGG p.G688W PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_5'UTR NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 688 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GTTTCAGGCCCACTGATGACT 0.388 NA 16 81 1.99824e-07 2.45047e-07 0.00499 1 0 OR2M5 127059 broad.mit.edu 37 1 248308515 248308515 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:248308515C>A uc010pze.1 + 1 66 c.66C>A c.(64-66)CCC>CCA p.P22P NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATCACAGCCCCACCCACACCT 0.478 NA 227 141 3.87791e-117 7.00429e-117 0.00361 1 0 C10orf18 54906 broad.mit.edu 37 10 5790473 5790473 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:5790473G>T uc001iij.2 + 15 5714 c.5089G>T c.(5089-5091)GGT>TGT p.G1697C C10orf18_uc001iik.2_Missense_Mutation_p.G541C NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1697 ovary(1)|central_nervous_system(1) 2 GCTTAAGAATGGTGAGCCTGA 0.458 NA 25 37 7.87624e-14 1.11222e-13 0.00278 1 0 LOC387646 387646 broad.mit.edu 37 10 27538535 27538535 + Silent SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:27538535G>T uc001its.2 - 1 2701 c.858C>A c.(856-858)CCC>CCA p.P286P NR_003525 SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555; 0 CCTCCGTAGTGGGTTCTGGAG 0.498 NA 90 132 9.24773e-40 1.63236e-39 0.00361 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72489080 72489080 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:72489080G>C uc001jrh.2 + 5 901 c.901G>C c.(901-903)GGG>CGG p.G301R ADAMTS14_uc001jrg.2_Missense_Mutation_p.G301R|ADAMTS14_uc010qjl.1_RNA NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 301 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 TGAGTCCCTGGGGGTTCATAT 0.398 NA 26 52 0 0 0.008361 0 0 SLC29A3 55315 broad.mit.edu 37 10 73082704 73082704 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:73082704C>T uc001jrr.3 + 2 250 c.193C>T c.(193-195)CTA>TTA p.L65L SLC29A3_uc001jrs.3_Silent_p.L65L|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_Intron NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 65 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 CATTGGCAGTCTACTGCCATG 0.597 Esophageal Squamous(200;1319 2142 18949 31248 39672) NA 5 78 0 0 0.001168 0 0 PSAP 5660 broad.mit.edu 37 10 73587857 73587857 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:73587857C>G uc001jsm.2 - 6 738 c.634G>C c.(634-636)GTA>CTA p.V212L NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 212 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 TTGGTCCGTACAGCAGTCTGG 0.532 NA 31 57 0 0 0.002836 0 0 SFTPA1 653509 broad.mit.edu 37 10 81372125 81372125 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:81372125G>T uc001kap.2 + 4 351 c.230G>T c.(229-231)GGA>GTA p.G77V SFTPA1_uc001kaq.2_Missense_Mutation_p.G77V|SFTPA1_uc009xry.2_Missense_Mutation_p.G92V|SFTPA1_uc001kar.2_Missense_Mutation_p.G77V|SFTPA1_uc010qlt.1_Missense_Mutation_p.G18V|SFTPA1_uc009xrz.2_Intron|SFTPA1_uc009xsa.2_Missense_Mutation_p.G77V|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 77 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GGGCTGCCTGGAGCCCCTGGT 0.612 NA 71 130 8.13855e-26 1.32607e-25 0.00361 1 0 CRTAC1 55118 broad.mit.edu 37 10 99664469 99664469 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:99664469C>A uc001kou.1 - 7 1309 c.953G>T c.(952-954)CGC>CTC p.R318L CRTAC1_uc001kov.2_Missense_Mutation_p.R307L|CRTAC1_uc001kot.1_Missense_Mutation_p.R108L NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 318 FG-GAP 3; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CAGATAGAGGCGGTGGGGGCC 0.498 NA 39 73 1.8453e-21 2.84738e-21 0.002522 1 0 HPSE2 60495 broad.mit.edu 37 10 100481488 100481488 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:100481488C>A uc001kpn.1 - 5 942 c.882G>T c.(880-882)CGG>CGT p.R294R HPSE2_uc009xwc.1_Silent_p.R284R|HPSE2_uc001kpo.1_Silent_p.R226R|HPSE2_uc009xwd.1_Silent_p.R172R NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 294 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGGAATAAATCCGGATGGGCT 0.493 NA 28 42 1.17739e-12 1.62327e-12 0.005443 1 0 FGF8 2253 broad.mit.edu 37 10 103530295 103530295 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:103530295C>T uc001ktp.1 - 6 663 c.493G>A c.(493-495)GAG>AAG p.E165K FGF8_uc001ktq.1_Missense_Mutation_p.E176K|FGF8_uc001ktr.1_Missense_Mutation_p.E147K|FGF8_uc001kts.1_Missense_Mutation_p.E136K|FGF8_uc009xwr.1_Missense_Mutation_p.E72K NM_033164 NP_149354 P55075 FGF8_HUMAN fibroblast growth factor 8 isoform E precursor 165 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TACCAGCCCTCGTACTTGGCA 0.627 NA 15 28 0 0 0.00499 0 0 FGFR2 2263 broad.mit.edu 37 10 123279634 123279634 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:123279634G>A uc010qtk.1 - 7 1445 c.798C>T c.(796-798)GCC>GCT p.A266A FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Silent_p.A151A|FGFR2_uc010qti.1_Silent_p.A177A|FGFR2_uc010qtj.1_Silent_p.A266A|FGFR2_uc010qtl.1_Silent_p.A266A|FGFR2_uc010qtm.1_Silent_p.A151A|FGFR2_uc001lfl.3_Silent_p.A266A|FGFR2_uc001lfm.2_Silent_p.A177A|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Silent_p.A285A|FGFR2_uc010qto.1_Silent_p.A170A|FGFR2_uc001lfo.1_Silent_p.A285A|FGFR2_uc010qtp.1_Silent_p.A285A|FGFR2_uc001lfg.3_5'Flank NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 266 Ig-like C2-type 3.|Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCACTGTGGAGGCATTTGCCG 0.577 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 5 43 0 0 0.000602 0 0 DMBT1 1755 broad.mit.edu 37 10 124338238 124338238 + Missense_Mutation SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:124338238T>G uc001lgk.1 + 9 748 c.642T>G c.(640-642)AGT>AGG p.S214R DMBT1_uc001lgl.1_Missense_Mutation_p.S214R|DMBT1_uc001lgm.1_Missense_Mutation_p.S214R|DMBT1_uc009xzz.1_Missense_Mutation_p.S214R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.S66R NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 214 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 central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTACAGAAAGTTGGCCTGTCA 0.448 Ovarian(182;93 2026 18125 22222 38972) NA 7 12 0 0 0.00308 0 0 MKI67 4288 broad.mit.edu 37 10 129902508 129902508 + Silent SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:129902508G>T uc001lke.2 - 13 7791 c.7596C>A c.(7594-7596)ATC>ATA p.I2532I MKI67_uc001lkf.2_Silent_p.I2172I|MKI67_uc009yav.1_Silent_p.I2107I|MKI67_uc009yaw.1_Silent_p.I1682I NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2532 16 X 122 AA approximate repeats.|13. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGGGTCCAGGATCTGCTTTG 0.512 NA 74 107 2.08929e-35 3.60595e-35 0.00361 1 0 MUC6 4588 broad.mit.edu 37 11 1025300 1025300 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:1025300C>G uc001lsw.2 - 23 2918 c.2867G>C c.(2866-2868)GGG>GCG p.G956A NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 956 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGCGTCACCCCGAGCTGCAC 0.642 NA 10 51 0 0 0.006214 0 0 OR2D3 120775 broad.mit.edu 37 11 6942999 6942999 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:6942999C>T uc010rav.1 + 1 767 c.767C>T c.(766-768)ACC>ATC p.T256I NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCTTTTTCCACCTGTGGCTCC 0.453 NA 5 43 0 0 0.000602 0 0 CTR9 9646 broad.mit.edu 37 11 10778300 10778300 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:10778300A>C uc001mja.2 + 5 656 c.507A>C c.(505-507)AAA>AAC p.K169N NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 169 TPR 3. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTACAGGTAAAGCTTGCATTT 0.333 NA 18 49 0 0 0.007413 0 0 SOX6 55553 broad.mit.edu 37 11 16010775 16010775 + Silent SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:16010775T>G uc001mme.2 - 14 1806 c.1773A>C c.(1771-1773)GGA>GGC p.G591G SOX6_uc001mmd.2_Silent_p.G554G|SOX6_uc001mmf.2_Silent_p.G551G|SOX6_uc001mmg.2_Intron NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 578 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TTGCTTTACTTCCTGTAATGT 0.502 NA OREG0020800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 19 0 0 0.007413 0 0 PAX6 5080 broad.mit.edu 37 11 31823152 31823152 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:31823152C>A uc001mtd.3 - 5 1204 c.314G>T c.(313-315)AGA>ATA p.R105I PAX6_uc001mte.3_Missense_Mutation_p.R105I|PAX6_uc001mtg.3_Missense_Mutation_p.R119I|PAX6_uc001mtf.3_Missense_Mutation_p.R105I|PAX6_uc001mth.3_Missense_Mutation_p.R105I|PAX6_uc009yjr.2_Missense_Mutation_p.R105I NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 105 Paired. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) GGACAGTAATCTGTCTCGGAT 0.502 NA Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 15 52 2.23348e-06 2.66873e-06 0.004007 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136650 40136650 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:40136650G>T uc001mxa.1 - 2 3157 c.1193C>A c.(1192-1194)GCG>GAG p.A398E LRRC4C_uc001mxc.1_Missense_Mutation_p.A394E|LRRC4C_uc001mxd.1_Missense_Mutation_p.A394E|LRRC4C_uc001mxb.1_Missense_Mutation_p.A394E NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 398 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) CACTTTGTACGCCCCATGTGT 0.463 NA 55 87 4.32865e-36 7.52668e-36 0.00361 1 0 PACSIN3 29763 broad.mit.edu 37 11 47201066 47201066 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:47201066T>A uc001ndw.2 - 7 1013 c.675A>T c.(673-675)GAA>GAT p.E225D ARFGAP2_uc001ndt.2_5'Flank|ARFGAP2_uc010rhb.1_5'Flank|ARFGAP2_uc001ndu.2_5'Flank|ARFGAP2_uc010rhc.1_5'Flank|ARFGAP2_uc010rhd.1_5'Flank|ARFGAP2_uc001ndv.1_5'Flank|PACSIN3_uc001ndx.2_Missense_Mutation_p.E225D|PACSIN3_uc001ndy.2_Missense_Mutation_p.E225D|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA NM_016223 NP_057307 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in 225 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding 0 CAAAGGCCTGTTCCATGTCCT 0.582 NA OREG0020952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 43 0 0 0.001523 0 0 OR4C16 219428 broad.mit.edu 37 11 55340174 55340174 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:55340174T>A uc010rih.1 + 1 571 c.571T>A c.(571-573)TAT>AAT p.Y191N NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TTCAGAAACCTATGTGGTTAA 0.438 NA 42 50 0 0 0.00361 0 0 PAK1 5058 broad.mit.edu 37 11 77054934 77054934 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:77054934C>A uc001oyh.3 - 10 1461 c.928G>T c.(928-930)GAG>TAG p.E310* PAK1_uc010rso.1_Nonsense_Mutation_p.E212*|PAK1_uc001oyg.3_Nonsense_Mutation_p.E310*|PAK1_uc001oyi.1_Nonsense_Mutation_p.E310*|PAK1_uc010rsn.1_Nonsense_Mutation_p.E23* NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 310 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) ATAATCAGCTCTTTCTTGGGC 0.398 NA 18 76 1.2644e-06 1.53441e-06 0.001523 1 0 TAS2R9 50835 broad.mit.edu 37 12 10962433 10962433 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:10962433A>G uc001qyx.2 - 1 335 c.242T>C c.(241-243)CTA>CCA p.L81P TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 81 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 AATGCTTACTAGCACGCTATT 0.398 NA 52 52 0 0 0.00361 0 0 HEBP1 50865 broad.mit.edu 37 12 13140126 13140126 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:13140126C>T uc001rbd.2 - 3 531 c.358G>A c.(358-360)GTT>ATT p.V120I HEBP1_uc001rbf.2_Missense_Mutation_p.V120I NM_015987 NP_057071 Q9NRV9 HEBP1_HUMAN heme binding protein 1 120 circadian rhythm extracellular region breast(1) 1 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TCAATCTTAACGCTTTTGTCA 0.488 NA 20 142 0 0 0.001523 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 22 1.49906e-05 1.72911e-05 0.00245 1 0 ANO6 196527 broad.mit.edu 37 12 45725191 45725191 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:45725191A>C uc001roo.2 + 3 599 c.264A>C c.(262-264)ACA>ACC p.T88T ANO6_uc010sld.1_Silent_p.T88T|ANO6_uc010sle.1_Silent_p.T88T|ANO6_uc010slf.1_Silent_p.T109T|ANO6_uc010slg.1_Silent_p.T70T NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 88 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 AAAAGGGTACAAATGAAAAAC 0.299 NA 13 24 0 0 0.00245 0 0 COL2A1 1280 broad.mit.edu 37 12 48387269 48387269 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:48387269G>A uc001rqu.2 - 15 1122 c.941C>T c.(940-942)CCG>CTG p.P314L COL2A1_uc001rqv.2_Missense_Mutation_p.P245L NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 314 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GTTCTCACCCGGGGAACCACT 0.542 NA 7 35 0 0 0.001984 0 0 EIF4B 1975 broad.mit.edu 37 12 53427616 53427616 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:53427616C>G uc001sbh.3 + 9 1212 c.1006C>G c.(1006-1008)CTA>GTA p.L336V EIF4B_uc010snu.1_Missense_Mutation_p.L336V|EIF4B_uc010snv.1_Missense_Mutation_p.L297V|EIF4B_uc001sbi.2_Missense_Mutation_p.L88V NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 336 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 CAAACTGAATCTAAAGCCTCG 0.458 NA 13 40 0 0 0.001855 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041052 64041052 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:64041052G>C uc001srp.1 - 5 863 c.682C>G c.(682-684)CCT>GCT p.P228A DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 228 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCATTAAGAGGTTCTATTCTG 0.318 NA 19 39 0 0 0.001523 0 0 PTPRB 5787 broad.mit.edu 37 12 71029742 71029742 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:71029742A>G uc001swc.3 - 2 204 c.160T>C c.(160-162)TGG>CGG p.W54R PTPRB_uc001swa.3_Missense_Mutation_p.W54R|PTPRB_uc001swd.3_Missense_Mutation_p.W53R|PTPRB_uc009zrr.1_Missense_Mutation_p.W54R|PTPRB_uc001swe.2_Missense_Mutation_p.W54R NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCTCAGTCCACATCCACTGC 0.512 NA 8 14 0 0 0.004482 0 0 KCNC2 3747 broad.mit.edu 37 12 75601467 75601467 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:75601467G>C uc001sxg.1 - 2 841 c.297C>G c.(295-297)GGC>GGG p.G99G KCNC2_uc009zry.2_Silent_p.G99G|KCNC2_uc001sxe.2_Silent_p.G99G|KCNC2_uc001sxf.2_Silent_p.G99G|KCNC2_uc010stw.1_Silent_p.G99G NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 99 Gly/Pro-rich (insert).|Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 AGAACTCGCGGCCGCCACCGG 0.652 NA 4 6 0 0 0.001168 0 0 DNAH10 196385 broad.mit.edu 37 12 124414242 124414242 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:124414242C>T uc001uft.3 + 71 12219 c.12194C>T c.(12193-12195)ACG>ATG p.T4065M DNAH10_uc001ufu.3_Translation_Start_Site NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4065 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACGTACTTAACGAAAGCCTTC 0.507 NA 4 23 0 0 0.000248 0 0 CDK8 1024 broad.mit.edu 37 13 26974666 26974666 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr13:26974666A>T uc001uqr.1 + 10 1036 c.1010A>T c.(1009-1011)GAA>GTA p.E337V CDK8_uc001uqs.1_Missense_Mutation_p.E337V|CDK8_uc001uqt.1_Missense_Mutation_p.E164V NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TATTTCTTAGAAGACCCACTT 0.423 NA 47 33 0 0 0.00361 0 0 TDRD3 81550 broad.mit.edu 37 13 61103023 61103023 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr13:61103023A>G uc001via.2 + 11 2173 c.1385A>G c.(1384-1386)AAT>AGT p.N462S TDRD3_uc010aef.2_Missense_Mutation_p.N287S|TDRD3_uc001vhz.3_Missense_Mutation_p.N462S|TDRD3_uc010aeg.2_Missense_Mutation_p.N555S|TDRD3_uc001vib.3_Missense_Mutation_p.N461S NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 462 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CAAACAATAAATAATGAAGCT 0.284 Colon(36;164 906 35820 50723) NA 34 19 0 0 0.002836 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454777 84454778 + Missense_Mutation DNP GG GG AT TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr13:84454777_84454778GG>AT uc001vlk.2 - 1 1751_1752 c.865_866CC>AT c.(865-867)CCT>ATT p.P289I NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 289 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTCTTGAAAGGAGTTGGCAGG 0.54 NA 12 15 0 0 0.004672 0 0 RABGGTA 5875 broad.mit.edu 37 14 24738879 24738879 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:24738879C>T uc001wof.2 - 5 871 c.449G>A c.(448-450)CGG>CAG p.R150Q RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.R150Q|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 150 PFTA 3. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) GGCCACAAACCGCCGATAGTC 0.582 NA 11 21 0 0 0.001368 0 0 AKAP6 9472 broad.mit.edu 37 14 33291383 33291383 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:33291383G>C uc001wrq.2 + 13 4534 c.4364G>C c.(4363-4365)GGA>GCA p.G1455A NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1455 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GACTGTTTGGGAGAAGAATTA 0.363 Melanoma(49;821 1200 7288 13647 42351) NA 24 38 0 0 0.00278 0 0 MDGA2 161357 broad.mit.edu 37 14 47566205 47566205 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:47566205G>A uc001wwj.3 - 6 1036 c.840C>T c.(838-840)TCC>TCT p.S280S MDGA2_uc001wwi.3_Silent_p.S51S|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 280 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GAGTCCCAAAGGACCTGACCC 0.468 NA 30 58 0 0 0.001786 0 0 RTN1 6252 broad.mit.edu 37 14 60194383 60194384 + Missense_Mutation DNP GG GG CT TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:60194383_60194384GG>CT uc001xen.1 - 3 1227_1228 c.1018_1019CC>AG c.(1018-1020)CCA>AGA p.P340R RTN1_uc001xem.1_5'UTR NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 340 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGCAGCAGATGGTTCTGTCGTC 0.53 NA 7 11 0 0 0.004672 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274527 68274527 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:68274527C>A uc001xka.2 - 5 613 c.474G>T c.(472-474)TGG>TGT p.W158C ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.W158C|ZFYVE26_uc010tta.1_Missense_Mutation_p.W158C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 158 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCAGGAGATCCCAGAGCACAG 0.602 NA 69 62 5.80444e-35 9.94436e-35 0.00361 1 0 FLRT2 23768 broad.mit.edu 37 14 86088584 86088584 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:86088584G>C uc001xvr.2 + 2 1493 c.726G>C c.(724-726)CTG>CTC p.L242L FLRT2_uc010atd.2_Silent_p.L242L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 242 Extracellular (Potential).|LRR 8. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTAATTCGCTGTCCCACCCTC 0.502 NA 47 61 0 0 0.002522 0 0 C14orf159 80017 broad.mit.edu 37 14 91671070 91671070 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:91671070G>A uc001xzb.2 + 14 2218 c.1450G>A c.(1450-1452)GAG>AAG p.E484K C14orf159_uc001xyx.2_Intron|C14orf159_uc001xyw.2_Missense_Mutation_p.E489K|C14orf159_uc001xzc.2_Missense_Mutation_p.E484K|C14orf159_uc001xza.2_Missense_Mutation_p.E489K|C14orf159_uc001xyv.2_Intron|C14orf159_uc001xyz.2_Missense_Mutation_p.E360K|C14orf159_uc001xze.2_Missense_Mutation_p.E484K NM_001102366 NP_001095836 Q7Z3D6 CN159_HUMAN hypothetical protein LOC80017 isoform a 484 mitochondrion central_nervous_system(2)|ovary(1) 3 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGAGGCAACGAGCTTGGGAT 0.602 NA 5 11 0 0 0.000602 0 0 SERPINA3 12 broad.mit.edu 37 14 95090116 95090116 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:95090116T>C uc001ydp.2 + 5 1316 c.1237T>C c.(1237-1239)TTC>CTC p.F413L SERPINA3_uc001ydo.3_Missense_Mutation_p.F438L|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.F413L|SERPINA3_uc001yds.2_Missense_Mutation_p.F413L|SERPINA3_uc010avg.2_Missense_Mutation_p.F413L NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 413 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAACATCTTCTTCATGAGCAA 0.498 NA 4 108 0 0 0.000602 0 0 CKB 1152 broad.mit.edu 37 14 103988639 103988639 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:103988639C>T uc001ynf.1 - 2 272 c.192G>A c.(190-192)CCG>CCA p.P64P CKB_uc001yne.1_5'Flank|CKB_uc010awr.1_Intron NM_001823 NP_001814 P12277 KCRB_HUMAN brain creatine kinase 64 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity 0 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GTCGCGTACCCGGGTTGTCCA 0.577 Esophageal Squamous(186;2492 2823 49929 50127) NA 5 13 0 0 0.000602 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929215 32929215 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:32929215C>G uc001zgy.1 + 12 2963 c.2241C>G c.(2239-2241)AAC>AAG p.N747K ARHGAP11A_uc010ubw.1_Missense_Mutation_p.N558K|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.N558K NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 747 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TGGAAGGTAACTTACCGAAGT 0.383 Colon(45;757 1134 30003 36652) NA 22 36 0 0 0.001882 0 0 SLC12A1 6557 broad.mit.edu 37 15 48551450 48551450 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:48551450A>T uc001zwn.3 + 17 2312 c.2096A>T c.(2095-2097)GAC>GTC p.D699V SLC12A1_uc010uew.1_Missense_Mutation_p.D505V|SLC12A1_uc010bem.2_Missense_Mutation_p.D699V|SLC12A1_uc001zwq.3_Missense_Mutation_p.D470V|SLC12A1_uc001zwr.3_Missense_Mutation_p.D426V NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 699 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCTCTCCTGGACATAACTCAC 0.502 NA 34 89 0 0 0.004878 0 0 DENND4A 10260 broad.mit.edu 37 15 65983463 65983463 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:65983463C>A uc002aph.2 - 22 3715 c.3337G>T c.(3337-3339)GAT>TAT p.D1113Y DENND4A_uc002api.2_Missense_Mutation_p.D1156Y|DENND4A_uc002apj.3_Missense_Mutation_p.D1113Y NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TCCACTTTATCTGCCAAATAG 0.363 NA 9 22 2.74318e-10 3.57073e-10 0.006214 1 0 ARNT2 9915 broad.mit.edu 37 15 80847406 80847406 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:80847406G>C uc002bfr.2 + 11 1256 c.1090G>C c.(1090-1092)GAT>CAT p.D364H ARNT2_uc010unm.1_Missense_Mutation_p.D353H|ARNT2_uc002bfs.2_Missense_Mutation_p.D353H NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 364 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) TTTTATTTAGGATCTTCTGGG 0.398 NA 33 97 0 0 0.002836 0 0 FES 2242 broad.mit.edu 37 15 91437239 91437239 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:91437239C>T uc002bpv.2 + 18 2373 c.2277C>T c.(2275-2277)TCC>TCT p.S759S FES_uc010uqj.1_Silent_p.S631S|FES_uc010uqk.1_Silent_p.S741S|FES_uc002bpw.2_Intron|FES_uc010bny.2_Silent_p.S618S|FES_uc002bpx.2_Silent_p.S689S|FES_uc002bpy.2_Silent_p.S701S NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 759 Protein kinase. S->F: Reduced autophosphorylation and strongly reduced kinase activity. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGGGGGCCTCCCCCTATCCCA 0.607 NA 84 136 0 0 0.00361 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 3 7 0 0 0.000602 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:32890622T>G uc002edh.1 - 5 440 c.264A>C c.(262-264)AAA>AAC p.K88N SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 CGTTGGTGTTTTTGTAGACCA 0.512 NA 3 23 0 0 0.004672 0 0 HYDIN 54768 broad.mit.edu 37 16 70972618 70972618 + Silent SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:70972618A>T uc002ezr.2 - 44 7019 c.6891T>A c.(6889-6891)CGT>CGA p.R2297R NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2298 Potential. ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGTTTTGGAGACGCTCCTTCT 0.537 NA 13 17 0 0 0.003163 0 0 CBFA2T3 863 broad.mit.edu 37 16 88967957 88967957 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:88967957C>T uc002fmm.1 - 2 445 c.259G>A c.(259-261)GCA>ACA p.A87T CBFA2T3_uc002fml.1_Missense_Mutation_p.A26T|CBFA2T3_uc010cif.1_Missense_Mutation_p.A26T|CBFA2T3_uc002fmn.1_Missense_Mutation_p.A87T NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 87 Mediates localization to the nucleus (By similarity).|Pro-rich.|Mediates interaction with PDE7A (in isoform 2).|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) CCCTGGGATGCGGCAGGCGGT 0.697 NA T RUNX1 AML 12 19 0 0 0.001855 0 0 FANCA 2175 broad.mit.edu 37 16 89858414 89858414 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:89858414C>A uc002fou.1 - 13 1188 c.1146G>T c.(1144-1146)CAG>CAT p.Q382H FANCA_uc010vpn.1_Missense_Mutation_p.Q382H NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 382 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGTGAACCTCCTGCGTTTCCA 0.517 NA D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 22 36 2.70639e-06 3.21729e-06 0.002299 1 0 MYH13 8735 broad.mit.edu 37 17 10212750 10212750 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:10212750G>A uc002gmk.1 - 35 5060 c.4970C>T c.(4969-4971)TCC>TTC p.S1657F NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1657 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ATGCAGCTGGGAGTCCTGCAG 0.672 NA 3 9 0 0 0.004672 0 0 MYH4 4622 broad.mit.edu 37 17 10363356 10363356 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:10363356G>A uc002gmn.2 - 14 1440 c.1329C>T c.(1327-1329)GTC>GTT p.V443V uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 443 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TGATGCGGGTGACCATCCACA 0.473 NA 77 161 0 0 0.00361 0 0 KRT37 8688 broad.mit.edu 37 17 39579093 39579093 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:39579093G>T uc002hwp.1 - 3 716 c.669C>A c.(667-669)GAC>GAA p.D223E uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 223 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GGGCCTCCAGGTCGGCCTTGG 0.667 NA 37 30 4.00102e-26 6.61161e-26 0.00623 1 0 C17orf71 55181 broad.mit.edu 37 17 57288786 57288786 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:57288786G>A uc002ixi.2 + 1 1416 c.1374G>A c.(1372-1374)GTG>GTA p.V458V NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 458 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TGTATGAGGTGGCTATTGATG 0.433 NA 40 53 0 0 0.00874 0 0 MAP3K3 4215 broad.mit.edu 37 17 61769133 61769133 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:61769133C>A uc002jbg.2 + 14 1704 c.1385C>A c.(1384-1386)ACA>AAA p.T462K MAP3K3_uc002jbe.2_Missense_Mutation_p.T493K|MAP3K3_uc002jbf.2_Missense_Mutation_p.T493K|MAP3K3_uc002jbh.2_Missense_Mutation_p.T489K|MAP3K3_uc010wpo.1_Missense_Mutation_p.T377K|MAP3K3_uc010wpp.1_Missense_Mutation_p.T458K NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 462 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1) 6 GGTGCTCTGACAGAGAGCGTG 0.547 NA 40 157 1.32136e-16 1.93633e-16 0.00874 1 0 GGA3 23163 broad.mit.edu 37 17 73242605 73242605 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:73242605C>T uc002jni.1 - 3 195 c.186G>A c.(184-186)GCG>GCA p.A62A GGA3_uc002jnj.1_Silent_p.A62A|GGA3_uc010wrw.1_5'UTR|GGA3_uc002jnk.1_5'UTR|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_5'UTR|GGA3_uc010wrz.1_Silent_p.A62A NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 62 VHS.|Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGGCCTGGAGCGCCTCCCATT 0.627 NA 7 30 0 0 0.001984 0 0 ZNF521 25925 broad.mit.edu 37 18 22804959 22804959 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr18:22804959T>C uc002kvk.2 - 4 3170 c.2923A>G c.(2923-2925)ACT>GCT p.T975A ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T975A|ZNF521_uc002kvl.2_Missense_Mutation_p.T755A NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 975 C2H2-type 23. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGTGTTCAGTAAGAGTTAAA 0.483 NA T PAX5 ALL 41 78 0 0 0.002852 0 0 ASXL3 80816 broad.mit.edu 37 18 31226268 31226268 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr18:31226268G>T uc010dmg.1 + 4 361 c.306G>T c.(304-306)TTG>TTT p.L102F ASXL3_uc002kxq.2_5'UTR NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AATCTGAATTGGATGGTACAG 0.383 NA 26 189 2.12542e-12 2.91307e-12 0.00632 1 0 SMAD4 4089 broad.mit.edu 37 18 48581339 48581339 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr18:48581339C>T uc010xdp.1 + 5 1181 c.643C>T c.(643-645)CCC>TCC p.P215S SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Missense_Mutation_p.P60S NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 215 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(3) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGCCAACTTTCCCAACATTCC 0.463 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 49 37 0 0 0.00361 0 0 STK11 6794 broad.mit.edu 37 19 1220715 1220715 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:1220715C>T uc002lrl.1 + 5 1848 c.733C>T c.(733-735)CTC>TTC p.L245F NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 245 Protein kinase. L -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGTCACCCTGTAAGTGCC 0.706 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 17 9 0 0 0.001523 0 0 KHSRP 8570 broad.mit.edu 37 19 6420440 6420440 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:6420440C>A uc002mer.3 - 5 578 c.468G>T c.(466-468)GTG>GTT p.V156V NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 156 Gly-rich.|KH 1. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 CACTCAGGCCCACCATGCCGT 0.592 Colon(55;593 1006 2067 9135 22980) NA 12 10 1.5842e-08 1.9739e-08 0.001855 1 0 TNFSF14 8740 broad.mit.edu 37 19 6664944 6664944 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:6664944A>G uc002mfk.1 - 5 1098 c.716T>C c.(715-717)ATG>ACG p.M239T TNFSF14_uc002mfj.1_Missense_Mutation_p.M203T NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 239 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CCTTCACACCATGAAAGCCCC 0.552 NA 55 40 0 0 0.00361 0 0 ZNF560 147741 broad.mit.edu 37 19 9582050 9582050 + Nonsense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:9582050C>T uc002mlp.1 - 6 453 c.243G>A c.(241-243)TGG>TGA p.W81* ZNF560_uc010dwr.1_5'UTR NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 81 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 GTTTTATTGCCCAGTCTGAAA 0.289 NA 28 17 0 0 0.005443 0 0 ZNF653 115950 broad.mit.edu 37 19 11594670 11594670 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:11594670C>G uc002mrz.1 - 9 1728 c.1675G>C c.(1675-1677)GAG>CAG p.E559Q ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 559 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCACAGATCTCGCACCTGCCG 0.512 Pancreas(83;980 1446 4542 6441 43352) NA 3 7 0 0 0.001168 0 0 ZNF442 79973 broad.mit.edu 37 19 12461745 12461745 + Silent SNP A A G rs117398535 byFrequency TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:12461745A>G uc002mtr.1 - 6 1265 c.654T>C c.(652-654)TTT>TTC p.F218F ZNF442_uc010xmk.1_Silent_p.F149F NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 218 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 TAGGCCAAAAAAAGGCTTTCC 0.403 NA 5 107 0 0 0.000602 0 0 ZNF14 7561 broad.mit.edu 37 19 19824913 19824913 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:19824913C>A uc002nnk.1 - 3 332 c.178G>T c.(178-180)GGG>TGG p.G60W NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) CGATTTTTCCCCTGGTTTCTG 0.363 NA 27 23 3.11337e-16 4.53385e-16 0.002836 1 0 ZNF43 7594 broad.mit.edu 37 19 22018896 22018896 + Translation_Start_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:22018896G>T uc002nqj.2 - 1 75 c.-55C>A c.(-57--53)ACCTG>ACATG ZNF43_uc010ecv.2_Intron|ZNF43_uc002nql.2_Intron|ZNF43_uc002nqm.2_Intron|ZNF43_uc002nqk.2_Translation_Start_Site NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AATACCCGCAGGTCACAGAGC 0.622 NA 13 38 1.61879e-10 2.13095e-10 0.001368 1 0 SLC7A10 56301 broad.mit.edu 37 19 33699842 33699842 + Silent SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:33699842T>G uc002num.2 - 11 1674 c.1527A>C c.(1525-1527)CCA>CCC p.P509P SLC7A10_uc002nul.2_Silent_p.P356P NM_019849 NP_062823 Q9NS82 AAA1_HUMAN solute carrier family 7, member 10 509 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(110;0.137) GCAGGGAGGGTGGGCAGGGGC 0.547 NA 5 17 0 0 0.000978 0 0 SPTBN4 57731 broad.mit.edu 37 19 41019317 41019317 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:41019317G>T uc002ony.2 + 14 2707 c.2621G>T c.(2620-2622)CGC>CTC p.R874L SPTBN4_uc002onx.2_Missense_Mutation_p.R874L|SPTBN4_uc002onz.2_Missense_Mutation_p.R874L|SPTBN4_uc010egx.2_5'UTR NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 874 Spectrin 6. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGCTGAGGCGCCAGTGGCTG 0.667 NA 6 5 0.00198382 0.00226583 0.001984 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51630302 51630302 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:51630302G>T uc002pvu.2 + 4 831 c.764G>T c.(763-765)GGA>GTA p.G255V SIGLEC9_uc010yct.1_Missense_Mutation_p.G255V NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 255 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACAGTCTTGGGAAATGGCTCA 0.343 NA 22 70 5.26018e-13 7.29537e-13 0.001882 1 0 SIGLEC14 100049587 broad.mit.edu 37 19 52146834 52146834 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:52146834A>C uc002pxf.3 - 6 1224 c.1104T>G c.(1102-1104)GCT>GCG p.A368A NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 368 Helical; (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GGAGGAAGCCAGCCCCCATGA 0.597 NA 26 40 0 0 0.004656 0 0 ZNF816A 125893 broad.mit.edu 37 19 53459279 53459280 + Splice_Site DNP CC CC AA TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:53459279_53459280CC>AA uc002qal.1 - 3 364 c.63_splice c.e3+1 p.Q21_splice ZNF321_uc010eqj.2_Splice_Site_p.Q5_splice|ZNF321_uc002qak.1_Splice_Site_p.Q5_splice|ZNF816A_uc002qam.1_Splice_Site_p.Q5_splice NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) ATATCACTTACCTGAGGAAGAG 0.431 NA 36 71 0 0 0.004672 0 0 VN1R4 317703 broad.mit.edu 37 19 53770108 53770108 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:53770108C>A uc010ydu.1 - 1 811 c.811G>T c.(811-813)GCC>TCC p.A271S NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 271 Helical; Name=7; (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) CTCATTAAGGCTGAAGTGTTC 0.438 NA HNSCC(26;0.072) 23 40 3.83957e-06 4.54122e-06 0.00278 1 0 LILRB4 11006 broad.mit.edu 37 19 55175722 55175722 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:55175722G>A uc002qgp.2 + 4 803 c.441G>A c.(439-441)CGG>CGA p.R147R LILRB4_uc002qgq.2_Silent_p.R147R|LILRB4_uc010ers.1_Silent_p.R60R|LILRB4_uc002qgr.2_Silent_p.R188R|LILRB4_uc010ert.2_Silent_p.R188R|LILRB4_uc010eru.2_Silent_p.R176R NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 147 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) GTCAGTCACGGAGCCCAATGG 0.572 NA 36 71 0 0 0.003271 0 0 NLRP7 199713 broad.mit.edu 37 19 55453058 55453058 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:55453058A>T uc002qih.3 - 2 98 c.22T>A c.(22-24)TGG>AGG p.W8R NLRP7_uc002qig.3_Missense_Mutation_p.W8R|NLRP7_uc002qii.3_Missense_Mutation_p.W8R|NLRP7_uc010esk.2_Missense_Mutation_p.W8R|NLRP7_uc010esl.2_Missense_Mutation_p.W36R NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 8 DAPIN. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TGCAGAGTCCACTCTAGCTGG 0.478 NA 18 23 0 0 0.007413 0 0 GP6 51206 broad.mit.edu 37 19 55543711 55543711 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:55543711C>A uc002qik.2 - 3 149 c.121G>T c.(121-123)GAG>TAG p.E41* GP6_uc002qil.2_Nonsense_Mutation_p.E41*|GP6_uc010esq.2_Nonsense_Mutation_p.E41*|RDH13_uc010esr.1_Intron NM_016363 NP_057447 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) isoform 2 41 Ig-like C2-type 1.|Extracellular (Potential). enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) ACTGGCTTCTCCAGGGGCACC 0.682 NA 17 14 9.16793e-09 1.14846e-08 0.00499 1 0 KLF11 8462 broad.mit.edu 37 2 10186425 10186425 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:10186425G>A uc002raf.1 + 2 353 c.191G>A c.(190-192)GGT>GAT p.G64D KLF11_uc010yjc.1_Missense_Mutation_p.G47D NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 64 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TCCCAGAAAGGTGACCTGTTG 0.527 Melanoma(56;431 1507 23687 50789) NA 17 24 0 0 0.006122 0 0 XDH 7498 broad.mit.edu 37 2 31602826 31602826 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:31602826G>A uc002rnv.1 - 13 1228 c.1149C>T c.(1147-1149)GTC>GTT p.V383V NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 383 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGTCCATCTGGACAGTTCTCC 0.552 Colon(66;682 1445 30109 40147) NA 36 51 0 0 0.00623 0 0 DHX57 90957 broad.mit.edu 37 2 39088534 39088534 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:39088534C>A uc002rrf.2 - 5 1117 c.1018G>T c.(1018-1020)GAT>TAT p.D340Y DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.D340Y NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 340 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) AGATGAGAATCATCTACACTT 0.343 Melanoma(191;1090 2095 4375 23729 47341) NA 14 28 9.31168e-06 1.07941e-05 0.001855 1 0 EHBP1 23301 broad.mit.edu 37 2 62974575 62974575 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:62974575G>A uc002sby.2 + 3 632 c.150G>A c.(148-150)AGG>AGA p.R50R EHBP1_uc010fcp.2_Silent_p.R50R|EHBP1_uc010fcq.1_Silent_p.R50R|EHBP1_uc002sbx.2_Silent_p.R50R|EHBP1_uc002sbz.2_Silent_p.R50R|EHBP1_uc002scb.2_Silent_p.R50R|EHBP1_uc002sca.2_Silent_p.R50R NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 50 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GAAGCCGAAGGAAGTCTTCTA 0.299 NA Hereditary_Prostate_Cancer 18 83 0 0 0.001523 0 0 REG3G 130120 broad.mit.edu 37 2 79255050 79255050 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:79255050A>G uc002snw.2 + 5 536 c.451A>G c.(451-453)AGA>GGA p.R151G REG3G_uc002snx.2_Missense_Mutation_p.R151G|REG3G_uc010ffu.2_Missense_Mutation_p.R105G NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 151 C-type lectin. acute-phase response extracellular region sugar binding 0 GAGCCTGTCAAGAAGCACAGG 0.478 NA 37 47 0 0 0.006999 0 0 CNGA3 1261 broad.mit.edu 37 2 99012950 99012950 + Silent SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:99012950G>T uc002syt.2 + 8 1734 c.1317G>T c.(1315-1317)CGG>CGT p.R439R CNGA3_uc002syu.2_Silent_p.R421R|CNGA3_uc010fij.2_Silent_p.R443R NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 439 R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GGGTTATCCGGTGGTTTGACT 0.547 NA 16 32 1.3612e-06 1.64332e-06 0.003163 1 0 TGFBRAP1 9392 broad.mit.edu 37 2 105897176 105897176 + Missense_Mutation SNP C C A rs56016004 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:105897176C>A uc002tcq.2 - 6 1210 c.1126G>T c.(1126-1128)GGC>TGC p.G376C TGFBRAP1_uc010fjc.2_Missense_Mutation_p.G146C|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.G376C NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 376 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 TCAAGCTGGCCGCTTCTGCAA 0.542 Esophageal Squamous(183;794 2019 9730 21801 48859) NA 8 14 5.18039e-06 6.03516e-06 0.00308 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711687 155711687 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:155711687C>T uc002tyv.1 + 3 1563 c.1368C>T c.(1366-1368)ACC>ACT p.T456T KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 456 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CTAAAACCACCAAGATGTTAT 0.468 NA 30 37 0 0 0.008361 0 0 CPS1 1373 broad.mit.edu 37 2 211503873 211503873 + Splice_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:211503873G>T uc002vee.3 + 23 2962 c.2830_splice c.e23-1 p.I944_splice CPS1_uc010fur.2_Splice_Site_p.I950_splice|CPS1_uc010fus.2_Splice_Site_p.I493_splice NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCTCTTACAGATTGATACAC 0.303 NA 10 18 1.58986e-06 1.90948e-06 0.008291 1 0 SIRPG 55423 broad.mit.edu 37 20 1617082 1617082 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr20:1617082G>T uc002wfm.1 - 3 565 c.500C>A c.(499-501)ACC>AAC p.T167N SIRPG_uc002wfn.1_Missense_Mutation_p.T167N|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 167 Extracellular (Potential).|Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 GGACTCACAGGTGAAACTCAC 0.542 NA 41 81 2.66277e-13 3.71512e-13 0.006999 1 0 SEMG1 6406 broad.mit.edu 37 20 43837137 43837137 + Missense_Mutation SNP G G C rs147894843 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr20:43837137G>C uc002xni.2 + 2 1256 c.1199G>C c.(1198-1200)GGT>GCT p.G400A SEMG1_uc002xnj.2_Missense_Mutation_p.G340A|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.G340A NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 400 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) CCATGGCATGGTGAAAATGCA 0.438 NA 35 34 0 0 0.002445 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874354 31874354 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr21:31874354C>A uc011ada.1 - 1 55 c.55G>T c.(55-57)GAT>TAT p.D19Y NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 19 intermediate filament protein binding 0 CCCAGGTCATCGAAGCCTCCG 0.587 NA 47 69 1.61863e-15 2.32803e-15 0.00361 1 0 UMODL1 89766 broad.mit.edu 37 21 43491428 43491428 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr21:43491428G>A uc002zaf.1 + 1 3 c.3G>A c.(1-3)ATG>ATA p.M1I UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zag.1_Missense_Mutation_p.M1I NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 1 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 GCCGGACGATGCTCAGGACCT 0.662 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 6 10 0 0 0.001168 0 0 PHF21B 112885 broad.mit.edu 37 22 45309877 45309877 + Nonsense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr22:45309877G>T uc003bfn.2 - 5 807 c.656C>A c.(655-657)TCA>TAA p.S219* PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron|PHF21B_uc011aqm.1_Intron NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 219 zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) aggggacagtgatggggaggg 0.244 NA 24 30 1.10923e-09 1.42006e-09 0.00278 1 0 SAPS2 9701 broad.mit.edu 37 22 50832508 50832508 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr22:50832508G>A uc003blb.1 + 4 593 c.171G>A c.(169-171)CTG>CTA p.L57L SAPS2_uc003bky.1_Silent_p.L57L|SAPS2_uc003bkz.1_Silent_p.L57L|SAPS2_uc003blc.2_Silent_p.L57L|SAPS2_uc003bla.1_Silent_p.L57L NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 57 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) TGGAGGAGCTGGTGAGCCTCA 0.557 NA 22 111 0 0 0.002299 0 0 SLC4A7 9497 broad.mit.edu 37 3 27442272 27442272 + Nonsense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:27442272T>A uc003cdv.2 - 16 2454 c.2383A>T c.(2383-2385)AGA>TGA p.R795* SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Nonsense_Mutation_p.R676*|SLC4A7_uc011aww.1_Nonsense_Mutation_p.R804*|SLC4A7_uc011awx.1_Nonsense_Mutation_p.R791*|SLC4A7_uc011awy.1_Nonsense_Mutation_p.R787*|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Nonsense_Mutation_p.R676*|SLC4A7_uc011axb.1_Nonsense_Mutation_p.R791*|SLC4A7_uc010hfl.2_Nonsense_Mutation_p.R345*|SLC4A7_uc003cdw.2_Nonsense_Mutation_p.R671* NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 795 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 GTAAGATTTCTCCAGGAAATA 0.328 NA 52 49 0 0 0.00361 0 0 DHX30 22907 broad.mit.edu 37 3 47887703 47887703 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:47887703G>A uc003cru.2 + 11 1567 c.1141G>A c.(1141-1143)GAT>AAT p.D381N DHX30_uc003crt.2_Missense_Mutation_p.D342N NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 381 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTGCAGAGTGATGACATCTT 0.542 NA 28 126 0 0 0.004656 0 0 DHX30 22907 broad.mit.edu 37 3 47887817 47887817 + Missense_Mutation SNP G G C rs71328953 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:47887817G>C uc003cru.2 + 11 1681 c.1255G>C c.(1255-1257)GAA>CAA p.E419Q DHX30_uc003crt.2_Missense_Mutation_p.E380Q NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 419 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GAGTCTGCTAGAACTGTGGCG 0.632 NA 23 86 0 0 0.00278 0 0 DHX30 22907 broad.mit.edu 37 3 47887871 47887871 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:47887871G>A uc003cru.2 + 11 1735 c.1309G>A c.(1309-1311)GAC>AAC p.D437N DHX30_uc003crt.2_Missense_Mutation_p.D398N NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 437 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTACCTGTGGACCCACATCG 0.657 NA 13 60 0 0 0.00245 0 0 FLNB 2317 broad.mit.edu 37 3 58140628 58140628 + Missense_Mutation SNP G G T rs144963323 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:58140628G>T uc003djj.2 + 40 6910 c.6745G>T c.(6745-6747)GGT>TGT p.G2249C FLNB_uc010hne.2_Missense_Mutation_p.G2280C|FLNB_uc003djk.2_Missense_Mutation_p.G2238C|FLNB_uc010hnf.2_Missense_Mutation_p.G2225C|FLNB_uc003djl.2_Missense_Mutation_p.G2069C|FLNB_uc003djm.2_Missense_Mutation_p.G2056C NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2249 Interaction with INPPL1.|Filamin 21. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGGGTCGTGCGGTGTATCTTA 0.438 NA 22 34 5.35356e-11 7.16884e-11 0.00278 1 0 FOXP1 27086 broad.mit.edu 37 3 71027060 71027060 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:71027060C>A uc003dol.2 - 11 1590 c.1267G>T c.(1267-1269)GTC>TTC p.V423F FOXP1_uc003dom.2_Missense_Mutation_p.V347F|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.V423F|FOXP1_uc003dop.2_Missense_Mutation_p.V423F|FOXP1_uc003doq.1_Missense_Mutation_p.V422F|FOXP1_uc003doi.2_Missense_Mutation_p.V323F|FOXP1_uc003doj.2_Missense_Mutation_p.V323F|FOXP1_uc003dok.2_Missense_Mutation_p.V236F|FOXP1_uc003dor.1_Missense_Mutation_p.V201F NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 423 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GTTGTGATGACAGAGGGGCCT 0.577 NA T PAX5 ALL 23 74 2.21704e-12 3.02087e-12 0.00278 1 0 FAM86D 692099 broad.mit.edu 37 3 75475685 75475685 + Missense_Mutation SNP A A G rs11128433 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:75475685A>G uc003dpp.3 - 7 912 c.553T>C c.(553-555)TGG>CGG p.W185R FAM86D_uc003dpo.3_RNA|FAM86D_uc003dps.3_RNA|FAM86D_uc003dpq.3_Missense_Mutation_p.W93R|FAM86D_uc003dpr.3_RNA NR_024241 RecName: Full=Protein FAM86B1; 0 TGGTGCTCCCAGCAGGCAGCC 0.602 NA 3 48 0 0 0.000602 0 0 ROBO1 6091 broad.mit.edu 37 3 78685076 78685076 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:78685076C>A uc003dqe.2 - 23 3428 c.3220G>T c.(3220-3222)GCC>TCC p.A1074S ROBO1_uc003dqb.2_Missense_Mutation_p.A1035S|ROBO1_uc003dqc.2_Missense_Mutation_p.A974S|ROBO1_uc003dqd.2_Missense_Mutation_p.A1029S|ROBO1_uc010hoh.2_Missense_Mutation_p.A266S|ROBO1_uc011bgl.1_Missense_Mutation_p.A646S NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1074 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGAGTGGTGGCGTAAGGAGTA 0.488 NA 18 69 3.62473e-10 4.66609e-10 0.001882 1 0 ZMAT3 64393 broad.mit.edu 37 3 178785396 178785396 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:178785396C>T uc003fjg.2 - 2 404 c.145G>A c.(145-147)GGG>AGG p.G49R ZMAT3_uc010hxa.2_Missense_Mutation_p.G49R|ZMAT3_uc003fji.2_Missense_Mutation_p.G49R NM_022470 NP_071915 Q9HA38 ZMAT3_HUMAN p53 target zinc finger protein isoform 1 49 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding ovary(2) 2 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) TCTTCTTCCCCTGCAAGAGGC 0.557 NA 39 26 0 0 0.004289 0 0 C4orf42 92070 broad.mit.edu 37 4 1244578 1244578 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:1244578A>G uc003gcz.1 + 1 402 c.217A>G c.(217-219)ACT>GCT p.T73A CTBP1_uc003gcu.1_5'Flank|CTBP1_uc003gcv.1_5'Flank|C4orf42_uc003gcy.1_RNA NM_052861 NP_443093 hypothetical protein LOC92070 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0101) Colorectal(103;0.188) TAATGGAGAGACTTCTGGGGA 0.562 NA 23 30 0 0 0.002299 0 0 RHOH 399 broad.mit.edu 37 4 40245368 40245368 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:40245368G>T uc003guz.2 + 3 1086 c.362G>T c.(361-363)CGG>CTG p.R121L NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 121 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 ACTGACCAGCGGGAGATGGGG 0.567 NA 8 23 5.18039e-06 6.03516e-06 0.00308 1 0 TECRL 253017 broad.mit.edu 37 4 65188467 65188467 + Silent SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:65188467T>A uc003hcv.2 - 4 484 c.375A>T c.(373-375)GCA>GCT p.A125A TECRL_uc003hcw.2_Silent_p.A125A NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 125 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TGGAGGAAGCTGCAATACTTT 0.308 NA 7 25 0 0 0.00308 0 0 CXCL1 2919 broad.mit.edu 37 4 74735447 74735447 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:74735447C>T uc003hhh.1 + 2 241 c.162C>T c.(160-162)CCC>CCT p.P54P NM_001511 NP_001502 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 54 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAATTCACCCCAAGAACATCC 0.627 NA 31 61 0 0 0.008361 0 0 SNCA 6622 broad.mit.edu 37 4 90756779 90756779 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:90756779C>T uc003hsq.2 - 2 299 c.40G>A c.(40-42)GGA>AGA p.G14R SNCA_uc010ikt.2_Missense_Mutation_p.G14R|SNCA_uc003hso.2_Missense_Mutation_p.G14R|SNCA_uc003hsp.2_Missense_Mutation_p.G14R|SNCA_uc003hsr.2_Missense_Mutation_p.G14R|uc003hss.1_5'Flank NM_001146054 NP_001139526 P37840 SYUA_HUMAN alpha-synuclein isoform NACP140 14 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) GCCACAACTCCCTCCTTGGCC 0.423 NA 17 43 0 0 0.00499 0 0 TLL1 7092 broad.mit.edu 37 4 166935588 166935588 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:166935588G>T uc003irh.1 + 8 1565 c.918G>T c.(916-918)AGG>AGT p.R306S TLL1_uc011cjn.1_Missense_Mutation_p.R306S|TLL1_uc011cjo.1_Missense_Mutation_p.R130S NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 306 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTTTTTCAGGGGGATGTTTC 0.413 NA 29 116 2.2171e-23 3.51418e-23 0.001786 1 0 SDHA 6389 broad.mit.edu 37 5 256470 256470 + Missense_Mutation SNP G G T rs3211483 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:256470G>T uc003jao.3 + 15 2045 c.1930G>T c.(1930-1932)GTG>TTG p.V644L SDHA_uc011clw.1_Missense_Mutation_p.V596L|SDHA_uc003jap.3_Missense_Mutation_p.V563L|SDHA_uc003jaq.3_Missense_Mutation_p.V419L|SDHA_uc003jar.3_Missense_Mutation_p.V238L NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 644 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ATATAGACCCGTGATCGACAA 0.428 NA Familial_Paragangliomas 7 101 0.00307968 0.00350032 0.00308 1 0 DNAH5 1767 broad.mit.edu 37 5 13864539 13864539 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:13864539C>A uc003jfd.2 - 28 4605 c.4563G>T c.(4561-4563)GAG>GAT p.E1521D NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1521 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAAGAGGTGCCTCCATGATAT 0.408 NA Kartagener_syndrome 27 33 2.79863e-10 3.62267e-10 0.004656 1 0 PRDM9 56979 broad.mit.edu 37 5 23522875 23522875 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:23522875C>A uc003jgo.2 + 8 945 c.763C>A c.(763-765)CAG>AAG p.Q255K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 255 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGGCATCCCTCAGGCTGGGCT 0.572 NA HNSCC(3;0.000094) 19 31 2.37509e-13 3.33371e-13 0.001523 1 0 AFF4 27125 broad.mit.edu 37 5 132232907 132232907 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:132232907C>A uc003kyd.2 - 11 1823 c.1415G>T c.(1414-1416)TGG>TTG p.W472L AFF4_uc011cxk.1_Missense_Mutation_p.W150L|AFF4_uc003kye.1_Missense_Mutation_p.W472L NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 472 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCAAGTTGCCATTTGTTTGT 0.413 Ovarian(126;889 1733 2942 10745 11605) NA 29 105 3.80469e-20 5.71931e-20 0.001786 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237891 140237891 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140237891G>A uc003lhx.2 + 1 2258 c.2258G>A c.(2257-2259)CGG>CAG p.R753Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.R753Q NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 753 6 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCAGAGGCGGCAGAGGGTG 0.672 NA 14 12 0 0 0.00245 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568980 140568980 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140568980G>T uc003liw.1 + 3 2089 c.2089G>T c.(2089-2091)GTG>TTG p.V697L PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 697 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTGGCCTCGGTGTCTTCGCT 0.716 NA 25 159 3.21987e-24 5.174e-24 0.00361 1 0 PCDHB10 56126 broad.mit.edu 37 5 140574220 140574220 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140574220G>T uc003lix.2 + 1 2269 c.2095G>T c.(2095-2097)GTG>TTG p.V699L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 699 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTGGCCTCGGTGTCTTCGCT 0.716 NA 21 62 3.86903e-22 6.05023e-22 0.002836 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755487 140755487 + Nonsense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140755487G>T uc003ljy.1 + 1 1837 c.1837G>T c.(1837-1839)GAG>TAG p.E613* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.E613* NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 613 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGGCCAGCGAGCCAGGACT 0.687 NA 28 34 8.58068e-18 1.26538e-17 0.007291 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140798727 140798727 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140798727C>T uc003lkn.1 + 1 1446 c.1301C>T c.(1300-1302)TCC>TTC p.S434F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.S434F|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 434 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTTATCCTCCAGCAAAACC 0.552 NA 5 41 0 0 0.001168 0 0 FAT2 2196 broad.mit.edu 37 5 150911504 150911504 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:150911504A>C uc003lue.3 - 13 9468 c.9455T>G c.(9454-9456)CTG>CGG p.L3152R GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'UTR NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3152 Extracellular (Potential).|Cadherin 28. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAATCCGGCAGAGAGTAAAC 0.642 NA 16 50 0 0 0.00499 0 0 SOX30 11063 broad.mit.edu 37 5 157078524 157078524 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:157078524G>T uc003lxb.1 - 1 905 c.563C>A c.(562-564)GCG>GAG p.A188E SOX30_uc003lxc.1_Missense_Mutation_p.A188E|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 188 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACCTCCTCCGCCTCCAGCTT 0.642 Esophageal Squamous(31;525 799 19355 21125 41744) NA 77 50 3.76054e-38 6.58801e-38 0.00361 1 0 GABRA6 2559 broad.mit.edu 37 5 161116287 161116287 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:161116287G>T uc003lyu.2 + 5 812 c.474G>T c.(472-474)ATG>ATT p.M158I GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 158 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTGTCCCATGAGGCTGGTTA 0.408 NA TCGA Ovarian(5;0.080) 40 39 2.35958e-20 3.59335e-20 0.002222 1 0 BOD1 91272 broad.mit.edu 37 5 173036425 173036425 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:173036425C>A uc003mcq.2 - 3 602 c.375G>T c.(373-375)TTG>TTT p.L125F BOD1_uc003mcr.2_Intron NM_138369 NP_612378 Q96IK1 BOD1_HUMAN biorientation of chromosomes in cell division 1 125 cell division|mitosis condensed chromosome kinetochore|microtubule organizing center ovary(2) 2 CTCCAGCTTCCAACATCCCTG 0.448 NA 23 102 1.96895e-08 2.44024e-08 0.00278 1 0 SNCB 6620 broad.mit.edu 37 5 176056582 176056582 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:176056582C>A uc003mep.2 - 3 517 c.74G>T c.(73-75)GGG>GTG p.G25V SNCB_uc003meq.2_Missense_Mutation_p.G25V|SNCB_uc010jke.1_Missense_Mutation_p.G25V|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein 25 1.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCGGTGACCCCCTGCTTGGT 0.672 NA 7 14 0.00448238 0.00506988 0.004482 1 0 HK3 3101 broad.mit.edu 37 5 176309050 176309050 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:176309050A>T uc003mfa.2 - 16 2224 c.2132T>A c.(2131-2133)ATC>AAC p.I711N HK3_uc003mez.2_Missense_Mutation_p.I267N NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 711 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCATGTTGATGCACATGCG 0.627 NA 36 35 0 0 0.003271 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178634557 178634557 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:178634557C>A uc003mjw.2 - 4 848 c.848G>T c.(847-849)GGG>GTG p.G283V ADAMTS2_uc011dgm.1_Missense_Mutation_p.G283V NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 283 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTGCTCCTTCCCGTGGAACTG 0.632 NA 45 61 1.21353e-23 1.93667e-23 0.00361 1 0 HIST1H3B 8358 broad.mit.edu 37 6 26032019 26032019 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:26032019C>T uc003nfs.1 - 1 270 c.270G>A c.(268-270)GTG>GTA p.V90V NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 90 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 GCAGCGCCATCACCGCAGAGC 0.557 NA 21 70 0 0 0.001882 0 0 GCM1 8521 broad.mit.edu 37 6 52993452 52993452 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:52993452T>A uc003pbp.2 - 6 1072 c.863A>T c.(862-864)TAC>TTC p.Y288F NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 288 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) ATGATCAGAGTAGACTCCGGA 0.473 NA 21 36 0 0 0.001523 0 0 PRIM2 5558 broad.mit.edu 37 6 57512612 57512612 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:57512612C>A uc003pdx.2 + 15 1527 c.1440C>A c.(1438-1440)ACC>ACA p.T480T NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 480 DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TCCAGAAAACCAAGGATGCAT 0.403 NA 63 317 3.86002e-21 5.917e-21 0.00361 1 0 TTK 7272 broad.mit.edu 37 6 80715587 80715587 + Silent SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:80715587A>G uc003pjc.2 + 2 101 c.27A>G c.(25-27)AGA>AGG p.R9R TTK_uc003pjb.3_Silent_p.R9R NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 9 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TAAGTGGCAGAGAATTGACAA 0.299 NA 15 14 0 0 0.003163 0 0 RFX6 222546 broad.mit.edu 37 6 117248302 117248302 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:117248302A>C uc003pxm.2 + 17 2061 c.1998A>C c.(1996-1998)CCA>CCC p.P666P NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 666 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GGAGGCCCCCAAGTGTGGGCC 0.522 NA 59 42 0 0 0.00361 0 0 TXLNB 167838 broad.mit.edu 37 6 139591688 139591688 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:139591688C>A uc011eds.1 - 4 757 c.592G>T c.(592-594)GAC>TAC p.D198Y NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 198 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TGTAACTGGTCCTTTTCTTTT 0.443 NA 28 18 8.24728e-16 1.19355e-15 0.004656 1 0 C6orf70 55780 broad.mit.edu 37 6 170169675 170169675 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:170169675C>G uc003qxg.1 + 12 1132 c.1099C>G c.(1099-1101)CGC>GGC p.R367G C6orf70_uc011ehb.1_Missense_Mutation_p.R241G|C6orf70_uc003qxh.1_Missense_Mutation_p.R367G|C6orf70_uc010kky.1_Missense_Mutation_p.R241G|C6orf70_uc003qxi.1_Missense_Mutation_p.R15G NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 367 integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GGAGGGTCCCCGCATAAGAGA 0.408 NA 12 6 0 0 0.001368 0 0 HOXA13 3209 broad.mit.edu 37 7 27238817 27238817 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:27238817C>A uc003szb.1 - 1 909 c.880G>T c.(880-882)GAG>TAG p.E294* uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 294 skeletal system development nucleus sequence-specific DNA binding breast(1) 1 TGCGCCTGCTCTTTGGGGCAG 0.637 NA T NUP98 AML 15 31 4.7546e-09 6.02078e-09 0.004007 1 0 INMT 11185 broad.mit.edu 37 7 30793497 30793497 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:30793497C>A uc003tbs.1 + 2 321 c.305C>A c.(304-306)CCG>CAG p.P102Q FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.P101Q NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 102 cytoplasm amine N-methyltransferase activity 0 AAGAAGGAGCCGGGGGCCTAT 0.572 NA 56 93 1.39843e-22 2.20158e-22 0.00361 1 0 CAMK2B 816 broad.mit.edu 37 7 44283039 44283039 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:44283039G>T uc003tkq.2 - 7 712 c.502C>A c.(502-504)CAG>AAG p.Q168K CAMK2B_uc003tkp.2_Missense_Mutation_p.Q168K|CAMK2B_uc003tkx.2_Missense_Mutation_p.Q168K|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.Q168K|CAMK2B_uc003tks.2_Missense_Mutation_p.Q168K|CAMK2B_uc003tku.2_Missense_Mutation_p.Q168K|CAMK2B_uc003tkv.2_Missense_Mutation_p.Q168K|CAMK2B_uc003tkt.2_Missense_Mutation_p.Q168K|CAMK2B_uc003tkw.2_Missense_Mutation_p.Q168K|CAMK2B_uc010kyc.2_Missense_Mutation_p.Q168K NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 168 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 CATGCCTGCTGGTCCCCCTGC 0.632 NA 20 51 1.33834e-09 1.704e-09 0.007413 1 0 MYO1G 64005 broad.mit.edu 37 7 45010484 45010484 + Nonsense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:45010484T>A uc003tmh.2 - 8 1165 c.1021A>T c.(1021-1023)AAG>TAG p.K341* MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Nonsense_Mutation_p.K103*|MYO1G_uc010kym.2_Nonsense_Mutation_p.K226*|MYO1G_uc003tmi.1_Nonsense_Mutation_p.K253*|MYO1G_uc003tmj.2_Nonsense_Mutation_p.K103* NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 341 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 GTGTGGCCCTTCTCTATGAGT 0.662 NA 12 28 0 0 0.001855 0 0 ASNS 440 broad.mit.edu 37 7 97488526 97488526 + Silent SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:97488526T>G uc003uot.3 - 5 1178 c.672A>C c.(670-672)CCA>CCC p.P224P ASNS_uc011kin.1_Silent_p.P141P|ASNS_uc003uou.3_Silent_p.P224P|ASNS_uc003uov.3_Silent_p.P224P|ASNS_uc011kio.1_Silent_p.P203P|ASNS_uc003uow.3_Silent_p.P203P|ASNS_uc003uox.3_Silent_p.P141P NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 224 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTCTGCTACCTGGAAAGAGTT 0.433 Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738) NA 11 64 0 0 0.001855 0 0 MUC17 140453 broad.mit.edu 37 7 100676675 100676675 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:100676675G>T uc003uxp.1 + 3 2031 c.1978G>T c.(1978-1980)GTG>TTG p.V660L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 660 Extracellular (Potential).|9.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAACACTCCTGTGACCACTTC 0.468 NA 106 491 4.10028e-47 7.34896e-47 0.00361 1 0 LAMB1 3912 broad.mit.edu 37 7 107615715 107615715 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:107615715A>G uc003vew.2 - 11 1668 c.1333T>C c.(1333-1335)TAT>CAT p.Y445H LAMB1_uc003vev.2_Missense_Mutation_p.Y469H|LAMB1_uc003vex.2_Missense_Mutation_p.Y445H|LAMB1_uc010ljn.1_Missense_Mutation_p.Y531H NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 445 Laminin EGF-like 3. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTAAATCATAGAAGCCTTCT 0.363 NA 36 58 0 0 0.002522 0 0 FAM3C 10447 broad.mit.edu 37 7 120991230 120991230 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:120991230C>A uc003vjx.2 - 9 809 c.561G>T c.(559-561)GGG>GGT p.G187G FAM3C_uc010lkm.2_Silent_p.G187G NM_014888 NP_055703 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 187 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity 0 all_neural(327;0.117) TAATGCCCTTCCCACCACAGA 0.418 NA 26 64 2.16457e-27 3.60247e-27 0.008361 1 0 FAM3C 10447 broad.mit.edu 37 7 120991242 120991242 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:120991242G>C uc003vjx.2 - 9 797 c.549C>G c.(547-549)GTC>GTG p.V183V FAM3C_uc010lkm.2_Silent_p.V183V NM_014888 NP_055703 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 183 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity 0 all_neural(327;0.117) CACCACAGAAGACCCAGTTGT 0.428 NA 24 60 0 0 0.00278 0 0 GRM8 2918 broad.mit.edu 37 7 126746607 126746607 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:126746607C>G uc003vlr.2 - 2 981 c.670G>C c.(670-672)GAG>CAG p.E224Q GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E224Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 224 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TAGTTCCCCTCAGAAGCCAGT 0.498 NA HNSCC(24;0.065) 22 29 0 0 0.00278 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217516 150217516 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:150217516G>A uc003whk.2 + 2 584 c.454G>A c.(454-456)GGC>AGC p.G152S NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 152 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCGGATGTGGGCCTAAAAAG 0.502 NA 14 23 0 0 0.001855 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269373 150269373 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:150269373G>T uc003whl.2 + 3 297 c.215G>T c.(214-216)CGC>CTC p.R72L GIMAP4_uc011kuu.1_Intron|GIMAP4_uc011kuv.1_Missense_Mutation_p.R86L NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 72 GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTGAGAAACGCAGCAGCTCA 0.483 NA 14 32 6.72482e-11 8.95362e-11 0.003163 1 0 COPS5 10987 broad.mit.edu 37 8 67974210 67974210 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr8:67974210T>C uc003xxe.2 - 1 353 c.22A>G c.(22-24)ATG>GTG p.M8V CSPP1_uc003xxg.1_5'Flank|CSPP1_uc003xxh.1_5'Flank|CSPP1_uc003xxi.2_5'Flank|CSPP1_uc003xxj.2_5'Flank|COPS5_uc003xxd.2_5'UTR|COPS5_uc003xxf.2_Silent_p.V36V|COPS5_uc010lyv.1_Missense_Mutation_p.M8V NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 8 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) TTCTGGGCCATACCGCTCCCG 0.537 NA 46 163 0 0 0.003214 0 0 LRRCC1 85444 broad.mit.edu 37 8 86035739 86035739 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr8:86035739A>C uc003ycw.2 + 7 1176 c.1022A>C c.(1021-1023)AAA>ACA p.K341T LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.K42T|LRRCC1_uc003ycx.2_Missense_Mutation_p.K248T|LRRCC1_uc003ycy.2_Missense_Mutation_p.K321T NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 341 cell division|mitosis centriole|nucleus 0 GGAAACAGAAAAGAATGCAAT 0.323 NA 20 144 0 0 0.008871 0 0 GDF6 392255 broad.mit.edu 37 8 97157010 97157010 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr8:97157010G>A uc003yhp.2 - 2 1249 c.1149C>T c.(1147-1149)TGC>TGT p.C383C NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 383 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) ATACACCCTCGCAGTGATAGG 0.637 NA 8 27 0 0 0.004482 0 0 TYRP1 7306 broad.mit.edu 37 9 12695518 12695518 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:12695518G>T uc003zkv.3 + 3 567 c.389G>T c.(388-390)AGG>ATG p.R130M NM_000550 NP_000541 P17643 TYRP1_HUMAN tyrosinase-related protein 1 precursor 130 Lumenal, melanosome (Potential). melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity lung(1) 1 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) CCTAAAGTCAGGAGAAATCTT 0.433 NA Oculocutaneous_Albinism 29 18 8.88839e-20 1.32756e-19 0.002096 1 0 Unknown 0 broad.mit.edu 37 9 78965780 78965780 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:78965780G>T uc004akc.1 + 8 1398 c.1178G>T c.(1177-1179)AGT>ATT p.S393I Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B. NA TGTGTGTGGAGTTACCACCTC 0.483 NA 25 78 5.24475e-26 8.60582e-26 0.004656 1 0 CRB2 286204 broad.mit.edu 37 9 126125191 126125191 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:126125191G>A uc004bnx.1 + 2 234 c.142G>A c.(142-144)GCT>ACT p.A48T CRB2_uc004bnw.1_Missense_Mutation_p.A48T NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 48 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 AGACCCGTGCGCTCCAGGGAC 0.647 NA 92 21 0 0 0.00361 0 0 MED27 9442 broad.mit.edu 37 9 134738450 134738450 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:134738450C>A uc004cbe.1 - 7 823 c.801G>T c.(799-801)ATG>ATT p.M267I MED27_uc004cbf.1_Missense_Mutation_p.M231I NM_004269 NP_004260 Q6P2C8 MED27_HUMAN mediator complex subunit 27 267 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity skin(1) 1 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) AGCCACTTACCATGAAGGATC 0.537 Colon(41;784 923 6932 42329 52483) NA 24 8 4.72057e-08 5.81954e-08 0.003954 1 0 GTF3C4 9329 broad.mit.edu 37 9 135553983 135553983 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:135553983G>A uc010mzv.2 + 2 1235 c.977G>A c.(976-978)CGA>CAA p.R326Q GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 326 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) CACAATAATCGAAAAATGAGT 0.413 Pancreas(142;417 1875 11086 31973 47667) NA 98 34 0 0 0.00361 0 0 FAM47B 170062 broad.mit.edu 37 X 34962130 34962130 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chrX:34962130G>T uc004ddi.1 + 1 1200 c.1182G>T c.(1180-1182)ATG>ATT p.M394I NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 394 ovary(3)|breast(1) 4 AGAGTCGGATGCCCCATCTCC 0.582 NA 24 5 1.1804e-14 1.67703e-14 0.003954 1 0 NAP1L2 4674 broad.mit.edu 37 X 72434052 72434052 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chrX:72434052C>A uc004ebi.2 - 1 633 c.277G>T c.(277-279)GGT>TGT p.G93C NAP1L2_uc011mqj.1_Intron NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 93 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) AAAACATAACCGATAAGTCCT 0.448 NA 42 19 2.54354e-34 4.32587e-34 0.002222 1 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + Frame_Shift_Ins INS - - AGCT rs141324796 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:17034125_17034126insAGCT uc001azn.1 - 3 478_479 c.364_365insAGCT c.(364-366)TGGfs p.W122fs ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 CAGCAGCAGCCAGCTGAGCACC 0.663 NA 4 3 --- --- --- --- NA NA NA NA NA SLIT1 6585 broad.mit.edu 37 10 98799774 98799774 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:98799774delG uc001kmw.2 - 21 2520 c.2268delC c.(2266-2268)CCCfs p.P756fs SLIT1_uc009xvh.1_Frame_Shift_Del_p.P766fs NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 756 LRRNT 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GAATGCCCTTGGGCAGGGCCC 0.652 NA 17 41 --- --- --- --- NA NA NA NA NA ZNF592 9640 broad.mit.edu 37 15 85341834 85341834 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:85341834delC uc002bld.2 + 8 3088 c.2752delC c.(2752-2754)CCCfs p.P918fs ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 918 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACGGTGTTCCCCGAAATGT 0.607 NA 23 42 --- --- --- --- NA NA NA NA NA HYDIN 54768 broad.mit.edu 37 16 70975590 70975590 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:70975590delG uc002ezr.2 - 43 6927 c.6799delC c.(6799-6801)CAGfs p.Q2267fs NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2268 Potential. ovary(1)|skin(1) 2 Ovarian(137;0.0654) GCGTAATCCTGGGCCATGTTG 0.527 NA 15 196 --- --- --- --- NA NA NA NA NA KIAA1267 284058 broad.mit.edu 37 17 44172067 44172067 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:44172067delC uc002ikb.2 - 2 1375 c.1290delG c.(1288-1290)CTGfs p.L430fs KIAA1267_uc002ikc.2_Frame_Shift_Del_p.L430fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.L430fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.L430fs NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 430 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) ACCTGCGTCTCCTAAAAGGAA 0.463 NA 42 112 --- --- --- --- NA NA NA NA NA ZNF331 55422 broad.mit.edu 37 19 54080642 54080653 + In_Frame_Del DEL TGGGAAGGCTTT TGGGAAGGCTTT - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 TGGGAAGGCTTT TGGGAAGGCTTT - - TGGGAAGGCTTT TGGGAAGGCTTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:54080642_54080653delTGGGAAGGCTTT uc002qbx.1 + 7 2262_2273 c.828_839delTGGGAAGGCTTT c.(826-840)TGTGGGAAGGCTTTT>TGT p.GKAF277del ZNF331_uc002qby.1_In_Frame_Del_p.GKAF277del|ZNF331_uc002qbz.1_In_Frame_Del_p.GKAF277del|ZNF331_uc002qca.1_In_Frame_Del_p.GKAF277del|ZNF331_uc010eqr.1_In_Frame_Del_p.GKAF277del|ZNF331_uc002qcb.1_In_Frame_Del_p.GKAF277del|ZNF331_uc002qcc.1_In_Frame_Del_p.GKAF277del|ZNF331_uc002qcd.1_In_Frame_Del_p.GKAF277del NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 277_280 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) GTAAAGACTGTGGGAAGGCTTTTATTTGTGGT 0.42 NA T ? follicular thyroid adenoma 18 48 --- --- --- --- NA NA NA NA NA REG3G 130120 broad.mit.edu 37 2 79255038 79255038 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:79255038delG uc002snw.2 + 5 524 c.439delG c.(439-441)GGGfs p.G147fs REG3G_uc002snx.2_Frame_Shift_Del_p.G147fs|REG3G_uc010ffu.2_Frame_Shift_Del_p.G101fs NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 147 C-type lectin. acute-phase response extracellular region sugar binding 0 TGGCCACTGTGGGAGCCTGTC 0.488 NA 30 74 --- --- --- --- NA NA NA NA NA XRN1 54464 broad.mit.edu 37 3 142123826 142123826 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:142123826delC uc003eus.2 - 16 1873 c.1806delG c.(1804-1806)TGGfs p.W602fs XRN1_uc010huu.2_Frame_Shift_Del_p.W68fs|XRN1_uc003eut.2_Frame_Shift_Del_p.W602fs|XRN1_uc003euu.2_Frame_Shift_Del_p.W602fs|XRN1_uc003euv.1_Frame_Shift_Del_p.W463fs NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 602 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 CTCTATCATACCAGCACATTA 0.403 NA 38 19 --- --- --- --- NA NA NA NA NA KIAA1045 23349 broad.mit.edu 37 9 34972519 34972519 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:34972519delC uc003zvq.2 + 3 733 c.555delC c.(553-555)TGCfs p.C185fs KIAA1045_uc003zvr.2_Frame_Shift_Del_p.C185fs NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 185 PHD-type. calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) GCTGGAGCTGCCACTACTGTG 0.557 NA 23 18 --- --- --- --- NA NA NA NA NA