Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut FBXO44 93611 broad.mit.edu 37 1 11718436 11718436 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:11718436C>T uc001asm.2 + 3 504 c.378C>T c.(376-378)TTC>TTT p.F126F FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_Silent_p.F126F|FBXO44_uc001asl.2_Silent_p.F126F|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Intron|FBXO44_uc010oas.1_Intron NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 126 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) AGAAATACTTCGTTACTTCAT 0.527 NA 28 81 0 0 0 0 LOC440563 440563 broad.mit.edu 37 1 13183780 13183780 + Silent SNP A A C rs116484938 by1000genomes TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:13183780A>C uc010obg.1 - 1 188 c.93T>G c.(91-93)TCT>TCG p.S31S NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 31 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 CCTCCACATCAGATTTCTTGA 0.468 NA 7 68 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NA 5 70 0 0 0 0 JAK1 3716 broad.mit.edu 37 1 65332750 65332750 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:65332750C>T uc001dbu.1 - 7 1038 c.789G>A c.(787-789)ACG>ACA p.T263T JAK1_uc009wam.1_Silent_p.T251T NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 263 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGGTCATGCGTGGACACGC 0.398 NA Mis ALL 4 144 0 0 0 0 CSF1 1435 broad.mit.edu 37 1 110466699 110466699 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:110466699G>A uc001dyu.2 + 6 1869 c.1456G>A c.(1456-1458)GAG>AAG p.E486K CSF1_uc001dyt.2_Missense_Mutation_p.E370K|CSF1_uc001dyv.3_Missense_Mutation_p.E188K|CSF1_uc001dyw.3_Missense_Mutation_p.E486K NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 486 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGGCAGTCCGAGGGATCCTT 0.612 NA 20 61 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152188507 152188507 + Silent SNP A A T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:152188507A>T uc001ezt.1 - 3 5674 c.5598T>A c.(5596-5598)GGT>GGA p.G1866G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1866 20 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAAGACTGACCTGAGCCAG 0.582 NA 38 667 0 0 0 0 TRIM46 80128 broad.mit.edu 37 1 155152367 155152367 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:155152367C>T uc001fhs.1 + 8 1628 c.1545C>T c.(1543-1545)GGC>GGT p.G515G RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.G515G|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G389G|TRIM46_uc001fhu.1_Silent_p.G492G|TRIM46_uc009wpg.1_Silent_p.G502G|TRIM46_uc001fhv.3_Silent_p.G502G|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 515 Fibronectin type-III. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCGGCTACGGCGAATACAGTG 0.657 NA 8 25 0 0 0 0 ISG20L2 81875 broad.mit.edu 37 1 156696882 156696882 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:156696882C>T uc001fps.1 - 1 824 c.563G>A c.(562-564)GGC>GAC p.G188D ISG20L2_uc001fpt.1_Missense_Mutation_p.G188D|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank NM_030980 NP_112242 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 188 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGTCCTGTGCCCACCATCTC 0.517 NA OREG0013885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 164 0 0 0 0 FAM58B 339521 broad.mit.edu 37 1 200183318 200183318 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:200183318C>T uc009wzi.1 + 1 663 c.627C>T c.(625-627)GTC>GTT p.V209V NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 209 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) TCTATGGAGTCGAGGTGCCCG 0.597 NA 7 39 0 0 0 0 DYDC2 84332 broad.mit.edu 37 10 82126495 82126495 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:82126495G>A uc001kca.1 + 5 702 c.322G>A c.(322-324)GAC>AAC p.D108N DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.D108N NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 108 protein binding 0 Colorectal(32;0.229) CATGCAGGAGGACACAAACCC 0.438 NA 4 147 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88277386 88277386 + Silent SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:88277386T>C uc001kdo.2 - 2 883 c.441A>G c.(439-441)ACA>ACG p.T147T WAPAL_uc001kdn.2_Silent_p.T190T|WAPAL_uc009xsw.2_Silent_p.T147T|WAPAL_uc010qmh.1_Silent_p.T147T|WAPAL_uc010qmi.1_Silent_p.T184T|WAPAL_uc010qmj.1_Silent_p.T147T NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 147 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 CAATTCGGTTTGTGCTCTTTT 0.363 NA 3 76 0 0 0 0 FAM178A 55719 broad.mit.edu 37 10 102689617 102689617 + Missense_Mutation SNP T T G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:102689617T>G uc001krt.3 + 8 2738 c.2196T>G c.(2194-2196)ATT>ATG p.I732M FAM178A_uc001krs.2_Missense_Mutation_p.I732M NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 732 0 CAGTTACAATTGATGCTATTC 0.294 NA 12 56 0 0 0 0 KNDC1 85442 broad.mit.edu 37 10 135015084 135015084 + Silent SNP C C T rs142572566 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:135015084C>T uc001llz.1 + 17 3070 c.3069C>T c.(3067-3069)GAC>GAT p.D1023D KNDC1_uc001lma.1_Silent_p.D958D|KNDC1_uc001lmb.1_Silent_p.D435D NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1023 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGGACTCGGACGCACTGTCAC 0.627 NA 13 55 0 0 0 0 C11orf46 120534 broad.mit.edu 37 11 30358279 30358279 + Missense_Mutation SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr11:30358279G>T uc001mso.1 + 4 884 c.720G>T c.(718-720)AAG>AAT p.K240N C11orf46_uc001msp.2_5'Flank NM_152316 NP_689529 Q8N8R7 CK046_HUMAN hypothetical protein LOC120534 240 0 GTGACCGCAAGTGGCTGTATG 0.443 NA 16 100 1.03e-11 1.13e-11 1 0 PRG2 5553 broad.mit.edu 37 11 57154973 57154973 + Missense_Mutation SNP C C A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr11:57154973C>A uc001njz.2 - 5 671 c.644G>T c.(643-645)AGA>ATA p.R215I PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.R215I|PRG2_uc001nkb.2_Missense_Mutation_p.R215I|PRG2_uc001nkd.2_Missense_Mutation_p.R204I|PRG2_uc001nkc.2_Missense_Mutation_p.R215I|PRG2_uc001nke.2_Missense_Mutation_p.R495I NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 215 C-type lectin. defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) GAAAGGAAGTCTTCTGAGGCA 0.602 NA 9 44 3.1e-07 3.39e-07 1 0 PRICKLE1 144165 broad.mit.edu 37 12 42866219 42866219 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:42866219C>T uc010skv.1 - 2 387 c.100G>A c.(100-102)GCC>ACC p.A34T PRICKLE1_uc001rnl.2_Missense_Mutation_p.A34T|PRICKLE1_uc010skw.1_Missense_Mutation_p.A34T|PRICKLE1_uc001rnm.2_Missense_Mutation_p.A34T|PRICKLE1_uc009zka.2_Missense_Mutation_p.A30T NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 34 PET. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GGGACCCAGGCGTACTCCTCC 0.478 NA 11 43 0 0 0 0 PA2G4 5036 broad.mit.edu 37 12 56504766 56504766 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:56504766G>C uc001sjm.2 + 10 1280 c.861G>C c.(859-861)AAG>AAC p.K287N PA2G4_uc009zol.2_Missense_Mutation_p.K287N|PA2G4_uc009zom.2_Intron NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 287 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) AAGATGAGAAGAAGGCTCGGA 0.428 NA 7 39 0 0 0 0 PA2G4 5036 broad.mit.edu 37 12 56505295 56505295 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:56505295G>C uc001sjm.2 + 12 1520 c.1101G>C c.(1099-1101)CAG>CAC p.Q367H PA2G4_uc009zol.2_Intron|PA2G4_uc009zom.2_Intron NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 367 Necessary for nucleolar localization.|Interaction with RNA (By similarity). cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GAAAAACCCAGAAAAAGAAAA 0.393 NA 22 104 0 0 0 0 CHST11 50515 broad.mit.edu 37 12 105151235 105151235 + Missense_Mutation SNP A A G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:105151235A>G uc001tkx.1 + 4 1004 c.713A>G c.(712-714)GAG>GGG p.E238G CHST11_uc001tky.2_Missense_Mutation_p.E233G|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 238 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 GTCAAATTCGAGGAGTTTGTG 0.567 NA 20 57 0 0 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:113515335T>G uc001tuk.1 + 2 702 c.366T>G c.(364-366)GAT>GAG p.D122E NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 CGGCCTACGATATGGACATCT 0.622 NA 4 46 0 0 0 0 PABPC3 5042 broad.mit.edu 37 13 25670487 25670487 + Missense_Mutation SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr13:25670487T>C uc001upy.2 + 1 212 c.151T>C c.(151-153)TCC>CCC p.S51P NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 51 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CACCAGCGGCTCCTCCAACTA 0.562 NA 12 53 0 0 0 0 NID2 22795 broad.mit.edu 37 14 52473375 52473375 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr14:52473375G>A uc001wzo.2 - 20 4118 c.3884C>T c.(3883-3885)ACC>ATC p.T1295I NID2_uc010tqs.1_Missense_Mutation_p.T1247I|NID2_uc010tqt.1_Missense_Mutation_p.T1295I NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1295 LDL-receptor class B 4. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CAGTTTTTTGGTTCCTTTTAA 0.428 NA 13 90 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 34150099 34150099 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:34150099G>A uc001zhi.2 + 99 14196 c.14126G>A c.(14125-14127)TGC>TAC p.C4709Y RYR3_uc010bar.2_Missense_Mutation_p.C4704Y NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4709 C -> R (in Ref. 6; CAA52326). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GATATGAAGTGCGACGACATG 0.592 NA 6 41 0 0 0 0 VPS18 57617 broad.mit.edu 37 15 41191580 41191580 + Silent SNP C C G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:41191580C>G uc001zne.2 + 4 903 c.564C>G c.(562-564)CTC>CTG p.L188L NM_020857 NP_065908 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 188 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding ovary(2)|large_intestine(1) 3 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CTCCGGATCTCTACTTCCGCC 0.602 NA 14 72 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43816968 43816968 + Silent SNP C C A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:43816968C>A uc001zrt.2 + 4 3764 c.3297C>A c.(3295-3297)GTC>GTA p.V1099V NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1099 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGCAATAGTCTTTGAGATTA 0.547 NA 18 76 4.54e-19 5.08e-19 1 0 LRRK1 79705 broad.mit.edu 37 15 101589973 101589973 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:101589973G>A uc002bwr.2 + 23 3743 c.3424G>A c.(3424-3426)GAT>AAT p.D1142N LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1142 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCCTTGATTGATCAGTGGTT 0.463 NA 11 43 0 0 0 0 TPSD1 23430 broad.mit.edu 37 16 1306807 1306807 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr16:1306807G>C uc002clb.1 + 3 273 c.264G>C c.(262-264)AAG>AAC p.K88N TPSD1_uc010brm.1_Intron NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 88 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) GGGACATCAAGGATCTGGCCG 0.667 NA 3 25 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18057108 18057108 + Silent SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr17:18057108G>A uc010vxh.1 + 42 8324 c.7986G>A c.(7984-7986)CTG>CTA p.L2662L MYO15A_uc010vxi.1_5'UTR|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2662 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CGCGATCGCTGGAGCCCCCTG 0.512 NA 4 33 0 0 0 0 TANC2 26115 broad.mit.edu 37 17 61391920 61391920 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr17:61391920G>A uc002jal.3 + 8 1132 c.1109G>A c.(1108-1110)GGA>GAA p.G370E TANC2_uc010wpe.1_Missense_Mutation_p.G280E NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 370 binding ovary(2) 2 GTGATTGTGGGAAACATTGGA 0.498 NA 21 90 0 0 0 0 FASN 2194 broad.mit.edu 37 17 80045301 80045301 + Silent SNP C C T rs146226779 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr17:80045301C>T uc002kdu.2 - 20 3240 c.3123G>A c.(3121-3123)TCG>TCA p.S1041S FASN_uc002kdw.1_Silent_p.S257S NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1041 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CGTGCTTGGCCGAGCCCAGGA 0.622 NA 10 50 0 0 0 0 LRRC30 339291 broad.mit.edu 37 18 7231177 7231177 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr18:7231177G>A uc010wzk.1 + 1 41 c.41G>A c.(40-42)GGC>GAC p.G14D NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 14 ovary(1)|liver(1) 2 AAGGATAAGGGCCCCAAGAGG 0.632 NA 11 73 0 0 0 0 MPPE1 65258 broad.mit.edu 37 18 11893497 11893497 + Silent SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr18:11893497G>T uc002kqf.2 - 4 1001 c.360C>A c.(358-360)ATC>ATA p.I120I MPPE1_uc002kqn.2_Silent_p.I120I|MPPE1_uc002kqg.2_RNA|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_RNA|MPPE1_uc002kqj.2_Silent_p.I120I|MPPE1_uc002kqk.2_Silent_p.I120I|MPPE1_uc002kql.2_Silent_p.I120I|MPPE1_uc002kqm.2_Silent_p.I120I|MPPE1_uc010dla.1_Silent_p.I120I NM_023075 NP_075563 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 precursor 120 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity 0 CTTCATCAAAGATATCCCCCA 0.537 NA 17 32 1.56e-12 1.74e-12 1 0 CYP4F12 66002 broad.mit.edu 37 19 15807840 15807840 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:15807840G>A uc002nbl.2 + 13 1581 c.1520G>A c.(1519-1521)CGC>CAC p.R507H NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TTGATCATGCGCGCCGAGGGC 0.562 NA 9 41 0 0 0 0 GNG8 94235 broad.mit.edu 37 19 47137457 47137457 + Nonsense_Mutation SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:47137457G>T uc010xyd.1 - 2 89 c.89C>A c.(88-90)TCG>TAG p.S30* NM_033258 NP_150283 Q9UK08 GBG8_HUMAN guanine nucleotide binding protein (G protein), 30 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325) TGCTGCCTGCGACACCTGCGA 0.677 NA 6 11 0.00198382 0.00211806 1 0 GRIN2D 2906 broad.mit.edu 37 19 48922614 48922614 + Missense_Mutation SNP A A G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:48922614A>G uc002pjc.3 + 8 1947 c.1859A>G c.(1858-1860)AAG>AGG p.K620R GRIN2D_uc010elx.2_5'UTR NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 620 Cytoplasmic (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCCACGGGCAAGCGTGAGTCC 0.597 NA 7 31 0 0 0 0 ZNF543 125919 broad.mit.edu 37 19 57838010 57838010 + Missense_Mutation SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:57838010T>C uc002qoi.1 + 3 500 c.155T>C c.(154-156)TTG>TCG p.L52S NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGCTGTCCTTTGTTCAAACCA 0.493 NA 10 51 0 0 0 0 RASGRP3 25780 broad.mit.edu 37 2 33764264 33764264 + Missense_Mutation SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr2:33764264G>T uc002rox.2 + 13 1892 c.1265G>T c.(1264-1266)AGG>ATG p.R422M RASGRP3_uc010ync.1_Missense_Mutation_p.R422M|RASGRP3_uc002roy.2_Missense_Mutation_p.R421M NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 422 EF-hand 1. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) AAGCACATAAGGAAATTAGTG 0.517 NA 3 10 0.00909568 0.00956731 1 0 LOC728819 728819 broad.mit.edu 37 2 43902588 43902588 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr2:43902588G>A uc010fav.1 - 1 874 c.874C>T c.(874-876)CGG>TGG p.R292W PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron NM_001101330 NP_001094800 C1GALT1-specific chaperone 1-like 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCCCTGAGCCGGTACAGGCCA 0.453 NA 4 51 0 0 0 0 CHODL 140578 broad.mit.edu 37 21 19628972 19628972 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr21:19628972G>C uc002ykv.2 + 2 617 c.226G>C c.(226-228)GAA>CAA p.E76Q CHODL_uc002ykr.2_Missense_Mutation_p.E35Q|CHODL_uc002yks.2_Missense_Mutation_p.E35Q|CHODL_uc002ykt.2_Missense_Mutation_p.E35Q|CHODL_uc002yku.2_Missense_Mutation_p.E35Q NM_024944 NP_079220 Q9H9P2 CHODL_HUMAN chondrolectin precursor 76 Extracellular (Potential).|C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding upper_aerodigestive_tract(1) 1 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) GAATGAAGCAGAACAGAAGTT 0.512 NA 19 79 0 0 0 0 PRODH 5625 broad.mit.edu 37 22 18906002 18906002 + Missense_Mutation SNP A A C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr22:18906002A>C uc010grl.2 - 11 1268 c.1254T>G c.(1252-1254)GAT>GAG p.D418E PRODH_uc002zoj.3_Missense_Mutation_p.D308E|PRODH_uc002zol.3_Missense_Mutation_p.D308E|PRODH_uc002zok.3_Missense_Mutation_p.D418E NM_016335 NP_057419 O43272 PROD_HUMAN proline dehydrogenase 1 418 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1) 1 L-Proline(DB00172) TGTCATAGGCATCCTGTGGGG 0.662 NA 3 21 0 0 0 0 RGL4 266747 broad.mit.edu 37 22 24038844 24038844 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr22:24038844G>A uc002zxn.2 + 7 2300 c.1130G>A c.(1129-1131)AGA>AAA p.R377K LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.R377K|RGL4_uc002zxp.1_Missense_Mutation_p.R241K|RGL4_uc002zxq.2_Missense_Mutation_p.R241K NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation 377 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 AACCCCCAGAGAGTCCAGATG 0.652 NA 7 26 0 0 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37962716 37962716 + Missense_Mutation SNP C C G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr22:37962716C>G uc003asz.3 + 2 763 c.360C>G c.(358-360)ATC>ATG p.I120M NM_152243 NP_689449 Q00587 BORG5_HUMAN CDC42 effector protein 1 120 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding 0 Melanoma(58;0.0574) AGAACGCCATCTCCCTGCCCC 0.692 NA 16 82 0 0 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115677 15115677 + Missense_Mutation SNP C C T rs147577833 byFrequency TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:15115677C>T uc003bzm.1 - 14 2581 c.1967G>A c.(1966-1968)CGC>CAC p.R656H ZFYVE20_uc010hek.1_Missense_Mutation_p.R656H NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 656 Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 TTTCAGGATGCGGGCTGAAGG 0.562 NA 4 102 0 0 0 0 UBA3 9039 broad.mit.edu 37 3 69111272 69111272 + Missense_Mutation SNP T T A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:69111272T>A uc003dno.2 - 10 772 c.752A>T c.(751-753)GAG>GTG p.E251V UBA3_uc003dnq.2_Missense_Mutation_p.E237V|UBA3_uc011bfy.1_Missense_Mutation_p.E74V|UBA3_uc011bfz.1_Missense_Mutation_p.E74V NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 251 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) CCTTACATACTCAATACAGTG 0.343 NA 20 74 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121208235 121208235 + Silent SNP A A G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:121208235A>G uc003eee.3 - 16 3672 c.3543T>C c.(3541-3543)AAT>AAC p.N1181N POLQ_uc003eed.2_Silent_p.N353N NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1181 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TCATATAAACATTCTGGTTTT 0.378 NA DNA_polymerases_(catalytic_subunits) 7 204 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124103747 124103747 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:124103747C>T uc003ehg.2 + 11 1947 c.1820C>T c.(1819-1821)ACG>ATG p.T607M KALRN_uc010hrv.1_Missense_Mutation_p.T607M|KALRN_uc003ehf.1_Missense_Mutation_p.T607M|KALRN_uc011bjy.1_Missense_Mutation_p.T607M|KALRN_uc003ehh.1_Translation_Start_Site NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 607 Spectrin 3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TTGGCTCAGACGGGGGAATGT 0.577 NA 7 53 0 0 0 0 NCK1 4690 broad.mit.edu 37 3 136664745 136664745 + Missense_Mutation SNP G G A rs149750260 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:136664745G>A uc003erh.2 + 3 654 c.547G>A c.(547-549)GTC>ATC p.V183I NCK1_uc011bme.1_Missense_Mutation_p.V119I NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 183 axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 AGCAGCAGTCGTCAATAACCT 0.428 NA 27 114 0 0 0 0 TUBB4Q 56604 broad.mit.edu 37 4 190905409 190905409 + Splice_Site SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr4:190905409C>T uc011clg.1 - 3 277 c.274_splice c.e3+1 p.R92_splice NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) CCGCAGCTCACGGGAAATGAA 0.657 NA 5 49 0 0 0 0 TAF7 6879 broad.mit.edu 37 5 140698816 140698816 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr5:140698816C>T uc003ljg.2 - 1 1536 c.796G>A c.(796-798)GAA>AAA p.E266K NM_005642 NP_005633 Q15545 TAF7_HUMAN TATA box-binding protein-associated factor 2F 266 Potential. negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGCTGTTCATCTGATTCA 0.448 NA 32 125 0 0 0 0 PCDH12 51294 broad.mit.edu 37 5 141325324 141325324 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr5:141325324C>T uc003llx.2 - 4 4388 c.3177G>A c.(3175-3177)GCG>GCA p.A1059A NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 1059 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGAGAGTCTCGCCATCCAGG 0.667 NA 20 56 0 0 0 0 GFRAL 389400 broad.mit.edu 37 6 55223938 55223938 + Splice_Site SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr6:55223938T>C uc003pcm.1 + 6 1038 c.952_splice c.e6+2 p.N318_splice NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CATGTTTCAGTAAGTTCCCCA 0.284 NA 8 41 0 0 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128262 117128262 + Silent SNP C C G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr6:117128262C>G uc003pxj.1 - 3 628 c.606G>C c.(604-606)CTG>CTC p.L202L GPRC6A_uc003pxk.1_Silent_p.L202L|GPRC6A_uc003pxl.1_Silent_p.L202L NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 202 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATTTCTGAATCAGGTGAGCCA 0.398 NA 50 171 0 0 0 0 MYB 4602 broad.mit.edu 37 6 135510957 135510957 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr6:135510957G>A uc003qfc.2 + 4 441 c.242G>A c.(241-243)CGA>CAA p.R81Q MYB_uc003qfh.2_Missense_Mutation_p.R81Q|MYB_uc003qfi.2_Missense_Mutation_p.R81Q|MYB_uc010kgi.2_Missense_Mutation_p.R81Q|MYB_uc003qfq.2_Missense_Mutation_p.R81Q|MYB_uc010kgj.2_Missense_Mutation_p.R81Q|MYB_uc003qfo.2_Missense_Mutation_p.R81Q|MYB_uc003qfu.2_Missense_Mutation_p.R81Q|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.R81Q|MYB_uc003qgd.1_5'UTR NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 81 HTH myb-type 1.|H-T-H motif (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) TGCCAGCACCGATGGCAGAAA 0.398 NA T NFIB adenoid cystic carcinoma 16 98 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138601971 138601971 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr7:138601971C>T uc011kql.1 - 2 2450 c.2401G>A c.(2401-2403)GAG>AAG p.E801K KIAA1549_uc003vuk.3_Missense_Mutation_p.E751K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E801K NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 801 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AAAGAAGACTCAGTTAAAATG 0.512 NA O BRAF pilocytic astrocytoma 5 21 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3076900 3076900 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:3076900G>A uc011kwk.1 - 29 4942 c.4552C>T c.(4552-4554)CTC>TTC p.L1518F CSMD1_uc011kwj.1_Missense_Mutation_p.L910F|CSMD1_uc003wqe.2_Missense_Mutation_p.L674F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1518 Extracellular (Potential).|CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCCCAATGAGGGGGCTGTTG 0.478 NA 3 3 0 0 0 0 ARC 23237 broad.mit.edu 37 8 143695621 143695621 + Silent SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:143695621G>A uc003ywn.1 - 1 213 c.12C>T c.(10-12)GAC>GAT p.D4D NM_015193 NP_056008 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated 4 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1) 1 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) TGGTCCGGTGGTCCAGCTCCA 0.746 NA 4 10 0 0 0 0 NRBP2 340371 broad.mit.edu 37 8 144919254 144919254 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:144919254G>A uc011lkt.1 - 14 1360 c.1220C>T c.(1219-1221)GCC>GTC p.A407V NRBP2_uc003yzv.2_Missense_Mutation_p.A164V|NRBP2_uc003yzz.1_Missense_Mutation_p.A25V|NRBP2_uc003yzw.2_Missense_Mutation_p.A199V|NRBP2_uc010mfl.2_Missense_Mutation_p.A199V|NRBP2_uc010mfm.2_Missense_Mutation_p.A164V|NRBP2_uc011lks.1_Missense_Mutation_p.A164V|NRBP2_uc003yzy.2_Missense_Mutation_p.A164V NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 407 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGGGGTCTTGGCCTTTTGGAC 0.607 NA 42 103 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144998170 144998170 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:144998170G>A uc003zaf.1 - 31 6508 c.6338C>T c.(6337-6339)GCG>GTG p.A2113V PLEC_uc003zab.1_Missense_Mutation_p.A1976V|PLEC_uc003zac.1_Missense_Mutation_p.A1980V|PLEC_uc003zad.2_Missense_Mutation_p.A1976V|PLEC_uc003zae.1_Missense_Mutation_p.A1944V|PLEC_uc003zag.1_Missense_Mutation_p.A1954V|PLEC_uc003zah.2_Missense_Mutation_p.A1962V|PLEC_uc003zaj.2_Missense_Mutation_p.A2003V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2113 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CTCCTCCGCCGCCAGCTGCCG 0.741 NA 8 7 0 0 0 0 LRSAM1 90678 broad.mit.edu 37 9 130259572 130259572 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr9:130259572G>A uc004brb.1 + 24 2216 c.1871G>A c.(1870-1872)CGG>CAG p.R624Q LRSAM1_uc010mxk.1_Missense_Mutation_p.R597Q|LRSAM1_uc004brc.1_Missense_Mutation_p.R624Q|LRSAM1_uc004brd.1_Missense_Mutation_p.R624Q|LRSAM1_uc004bre.1_Missense_Mutation_p.R204Q|uc004brf.1_5'Flank|LRSAM1_uc004brg.1_Missense_Mutation_p.R55Q NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 624 SAM. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 GAGATCCTCCGGAGAGTCCAG 0.617 NA 7 26 0 0 0 0 FIBCD1 84929 broad.mit.edu 37 9 133805083 133805083 + Silent SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr9:133805083G>A uc004bzz.2 - 2 668 c.423C>T c.(421-423)GCC>GCT p.A141A FIBCD1_uc011mcc.1_Silent_p.A141A|FIBCD1_uc011mcd.1_Silent_p.A149A NM_032843 NP_116232 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 141 Extracellular (Potential). signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding 0 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GCAGCTGGTCGGCCAGCGTGT 0.731 NA 5 9 0 0 0 0