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 C1orf168 199920 broad.mit.edu 37 1 57252852 57252852 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr1:57252852C>T uc001cym.3 - 4 1355 c.949G>A c.(949-951)GAG>AAG p.E317K C1orf168_uc009vzu.1_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 317 ovary(3)|skin(2) 5 ACTTACCTCTCTGGAGACAGG 0.488 NA 35 42 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 NA 3 49 0 0 0 0 TCHH 7062 broad.mit.edu 37 1 152080007 152080007 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr1:152080007G>A uc001ezp.2 - 2 5686 c.5686C>T c.(5686-5688)CGC>TGC p.R1896C TCHH_uc009wne.1_Missense_Mutation_p.R1896C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1896 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGACTTGGCGGTGCCTCTGT 0.582 NA 72 63 0 0 0 0 RPTN 126638 broad.mit.edu 37 1 152128845 152128845 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr1:152128845C>G uc001ezs.1 - 3 795 c.730G>C c.(730-732)GAA>CAA p.E244Q NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 244 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GTATGTCTTTCAGACTGACCA 0.423 NA 100 115 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152285143 152285143 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr1:152285143C>T uc001ezu.1 - 3 2255 c.2219G>A c.(2218-2220)CGA>CAA p.R740Q uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 740 Filaggrin 4.|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) ACTGGACCCTCGGTGTCCACT 0.577 NA Ichthyosis 250 325 0 0 0 0 C1orf9 51430 broad.mit.edu 37 1 172558719 172558719 + Silent SNP A A G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr1:172558719A>G uc001giq.3 + 18 2794 c.2478A>G c.(2476-2478)CCA>CCG p.P826P C1orf9_uc010pmm.1_Silent_p.P826P|C1orf9_uc009wwd.2_Silent_p.P782P|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 826 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) CAATAGTGCCACCAATAAATA 0.348 NA 4 20 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197069707 197069707 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr1:197069707G>A uc001gtu.2 - 18 8931 c.8674C>T c.(8674-8676)CAC>TAC p.H2892Y ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H740Y NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2892 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GCTCTGTAGTGATTTTGTAAA 0.343 NA 24 26 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 56138640 56138640 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr10:56138640C>T uc001jju.1 - 4 615 c.220G>A c.(220-222)GAA>AAA p.E74K PCDH15_uc010qhq.1_Missense_Mutation_p.E79K|PCDH15_uc010qhr.1_Missense_Mutation_p.E74K|PCDH15_uc010qhs.1_Missense_Mutation_p.E79K|PCDH15_uc010qht.1_Missense_Mutation_p.E74K|PCDH15_uc010qhu.1_Missense_Mutation_p.E74K|PCDH15_uc001jjv.1_Missense_Mutation_p.E52K|PCDH15_uc010qhv.1_Missense_Mutation_p.E74K|PCDH15_uc010qhw.1_Missense_Mutation_p.E74K|PCDH15_uc010qhx.1_Missense_Mutation_p.E74K|PCDH15_uc010qhy.1_Missense_Mutation_p.E79K|PCDH15_uc010qhz.1_Missense_Mutation_p.E74K|PCDH15_uc010qia.1_Missense_Mutation_p.E52K|PCDH15_uc010qib.1_Missense_Mutation_p.E52K|PCDH15_uc001jjw.2_Missense_Mutation_p.E74K NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 74 Cadherin 1.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AAAGAAAGTTCTATGGTGGGG 0.428 NA HNSCC(58;0.16) 53 108 0 0 0 0 TTC18 118491 broad.mit.edu 37 10 75035242 75035242 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr10:75035242C>G uc009xrc.2 - 23 2966 c.2845G>C c.(2845-2847)GAG>CAG p.E949Q TTC18_uc001jty.2_Missense_Mutation_p.E949Q|TTC18_uc001jtv.3_Missense_Mutation_p.E53Q|TTC18_uc001jtw.3_Missense_Mutation_p.E53Q|TTC18_uc001jtx.2_Missense_Mutation_p.E330Q NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 949 TPR 4. binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) AGGTATTCCTCTGCCTTGGCA 0.473 NA 76 76 0 0 0 0 CWF19L1 55280 broad.mit.edu 37 10 101997927 101997927 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr10:101997927C>T uc001kqq.1 - 11 1193 c.1106G>A c.(1105-1107)GGA>GAA p.G369E CWF19L1_uc001kqs.1_Missense_Mutation_p.G121E|CWF19L1_uc001kqr.1_Missense_Mutation_p.G369E|CWF19L1_uc001kqt.1_Missense_Mutation_p.G73E|CWF19L1_uc010qpn.1_Missense_Mutation_p.G232E|SNORA12_uc001kqu.1_5'Flank NM_018294 NP_060764 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control 369 catalytic activity 0 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) CTGGTAGTGTCCAATAGGCAG 0.498 NA 64 120 0 0 0 0 CNNM2 54805 broad.mit.edu 37 10 104678631 104678631 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr10:104678631G>C uc001kwm.2 + 1 518 c.394G>C c.(394-396)GAG>CAG p.E132Q CNNM2_uc001kwn.2_Missense_Mutation_p.E132Q|CNNM2_uc001kwl.2_Missense_Mutation_p.E132Q NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 132 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAgcccgggggagcgcgggct 0.517 NA 20 19 0 0 0 0 DMBT1 1755 broad.mit.edu 37 10 124380632 124380632 + Missense_Mutation SNP G G T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr10:124380632G>T uc001lgk.1 + 41 5063 c.4957G>T c.(4957-4959)GTG>TTG p.V1653L DMBT1_uc001lgl.1_Missense_Mutation_p.V1643L|DMBT1_uc001lgm.1_Missense_Mutation_p.V1025L|DMBT1_uc009xzz.1_Missense_Mutation_p.V1653L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.V356L|DMBT1_uc009yac.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1653 SRCR 13. 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) TCGAGGCCGAGTGGAGGTCCT 0.562 NA 130 207 4.56e-48 5.05e-48 1 0 OR52B2 255725 broad.mit.edu 37 11 6190885 6190885 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr11:6190885G>A uc010qzy.1 - 1 672 c.672C>T c.(670-672)CTC>CTT p.L224L NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACACTGCTCGGAGGATCAGTG 0.498 NA 15 21 0 0 0 0 PSMA1 5682 broad.mit.edu 37 11 14632514 14632514 + Nonsense_Mutation SNP T T A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr11:14632514T>A uc001mll.2 - 2 364 c.19A>T c.(19-21)AAG>TAG p.K7* NM_148976 NP_683877 P25786 PSA1_HUMAN proteasome alpha 1 subunit isoform 1 Error:Variant_position_missing_in_P25786_after_alignment anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity upper_aerodigestive_tract(1)|skin(1) 2 ATTCTCACCTTCACCTTGCTG 0.418 NA 7 17 0 0 0 0 KCNC1 3746 broad.mit.edu 37 11 17793798 17793798 + Missense_Mutation SNP A A G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr11:17793798A>G uc001mnk.3 + 2 1212 c.1157A>G c.(1156-1158)AAC>AGC p.N386S KCNC1_uc009yhc.1_Missense_Mutation_p.N386S NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 386 voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 CACTTTAAGAACATCCCCATC 0.617 NA 29 50 0 0 0 0 GTF2H1 2965 broad.mit.edu 37 11 18359808 18359808 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr11:18359808C>G uc001moi.2 + 5 1194 c.500C>G c.(499-501)TCT>TGT p.S167C GTF2H1_uc001moh.2_Missense_Mutation_p.S167C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S51C NM_001142307 NP_001135779 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 167 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding 0 GTTGGCATTTCTGCTGCATTT 0.368 NA NER 52 64 0 0 0 0 NPAS4 266743 broad.mit.edu 37 11 66191925 66191925 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr11:66191925C>T uc001ohx.1 + 7 1740 c.1564C>T c.(1564-1566)CCT>TCT p.P522S NPAS4_uc010rpc.1_Missense_Mutation_p.P312S NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 522 transcription, DNA-dependent DNA binding|signal transducer activity 0 CTTCCCAGAGCCTCTGGGCAG 0.597 NA 6 216 0 0 0 0 PGR 5241 broad.mit.edu 37 11 100999748 100999748 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr11:100999748C>T uc001pgh.2 - 1 797 c.54G>A c.(52-54)CCG>CCA p.P18P PGR_uc001pgi.2_Silent_p.P18P|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 18 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CGGGGGAGGGCGGGCCGCCCG 0.682 NA 6 0 0 0 0 0 KCNA6 3742 broad.mit.edu 37 12 4919430 4919430 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr12:4919430C>T uc001qng.2 + 1 1089 c.223C>T c.(223-225)CGC>TGC p.R75C NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 75 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CCGGCGAGTCCGCTTCTTCGA 0.632 NA HNSCC(72;0.22) 30 29 0 0 0 0 BICD1 636 broad.mit.edu 37 12 32458713 32458713 + Missense_Mutation SNP T T A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr12:32458713T>A uc001rku.2 + 4 743 c.662T>A c.(661-663)ATC>AAC p.I221N BICD1_uc001rkv.2_Missense_Mutation_p.I221N|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 221 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GAAGATGCCATCCGATTGAAA 0.463 NA 16 27 0 0 0 0 PPHLN1 51535 broad.mit.edu 37 12 42745801 42745801 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr12:42745801G>A uc001rng.1 + 3 292 c.187G>A c.(187-189)GAG>AAG p.E63K PPHLN1_uc001rmy.2_Missense_Mutation_p.E81K|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Missense_Mutation_p.E70K|PPHLN1_uc001rnb.2_Missense_Mutation_p.E70K|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Missense_Mutation_p.E63K|PPHLN1_uc001rnf.2_Missense_Mutation_p.E63K|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN periphilin 1 isoform 1 63 keratinization cytoplasm|nucleus ovary(1)|breast(1) 2 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) AGACTATGACGAGGGCCGCAG 0.393 NA 23 18 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49436602 49436602 + Nonsense_Mutation SNP C C A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr12:49436602C>A uc001rta.3 - 26 5704 c.5704G>T c.(5704-5706)GAA>TAA p.E1902* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1902 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TGTTCTCGTTCAGAGCCCAGA 0.547 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 36 37 1.37e-20 1.5e-20 1 0 KRT73 319101 broad.mit.edu 37 12 53005099 53005099 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr12:53005099C>G uc001sas.2 - 6 1034 c.999G>C c.(997-999)CAG>CAC p.Q333H NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 333 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CGGCTGCTAGCTGCAGCTCCT 0.547 NA 25 27 0 0 0 0 ACADS 35 broad.mit.edu 37 12 121175211 121175211 + Missense_Mutation SNP C C T rs17848085 TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr12:121175211C>T uc001tza.3 + 4 531 c.413C>T c.(412-414)GCG>GTG p.A138V ACADS_uc010szl.1_Missense_Mutation_p.A138V|ACADS_uc001tzb.3_Missense_Mutation_p.A65V NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 138 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CAGAAGCAGGCGTGGGTCACG 0.622 NA 18 31 0 0 0 0 PSPC1 55269 broad.mit.edu 37 13 20277482 20277482 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr13:20277482G>C uc001uml.2 - 9 1591 c.1405C>G c.(1405-1407)CAA>GAA p.Q469E PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 469 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GGTGGTCCTTGAGGAAATCTG 0.438 NA 11 21 0 0 0 0 BRCA2 675 broad.mit.edu 37 13 32972674 32972674 + Missense_Mutation SNP G G A rs28897761 TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr13:32972674G>A uc001uub.1 + 27 10251 c.10024G>A c.(10024-10026)GAA>AAA p.E3342K NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3342 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AATAGCTGACGAAGAACTTGC 0.358 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 10 27 0 0 0 0 ZIC2 7546 broad.mit.edu 37 13 100635350 100635350 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr13:100635350C>T uc001von.2 + 1 1032 c.1032C>T c.(1030-1032)TTC>TTT p.F344F NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 344 C2H2-type 3. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCAAAGTCTTCGCGCGCTCCG 0.617 NA 27 41 0 0 0 0 EDDM3A 10876 broad.mit.edu 37 14 21216174 21216174 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr14:21216174C>T uc001vyb.2 + 2 502 c.435C>T c.(433-435)ATC>ATT p.I145I EDDM3A_uc001vyc.2_Silent_p.I145I NM_006683 NP_006674 Q14507 EP3A_HUMAN human epididymis-specific 3 alpha precursor 145 sperm displacement extracellular space 0 TAGAACCTATCAGCAACTAGA 0.453 NA 22 24 0 0 0 0 FSCB 84075 broad.mit.edu 37 14 44975037 44975037 + Missense_Mutation SNP C C T rs138964489 TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr14:44975037C>T uc001wvn.2 - 1 1463 c.1154G>A c.(1153-1155)CGG>CAG p.R385Q NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 385 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TGAGGGAGACCGAATTTCACC 0.527 NA 44 77 0 0 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267584 71267584 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr14:71267584C>T uc001xmm.2 - 2 620 c.620G>A c.(619-621)AGA>AAA p.R207K MAP3K9_uc001xml.2_Missense_Mutation_p.R207K NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 207 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) ACATACCCCTCTTAGGGCAAT 0.532 NA 41 49 0 0 0 0 DNAL1 83544 broad.mit.edu 37 14 74125657 74125657 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr14:74125657C>T uc001xoq.3 + 3 315 c.150C>T c.(148-150)TGC>TGT p.C50C DNAL1_uc010aru.2_Silent_p.C11C|DNAL1_uc010arv.2_Intron NM_031427 NP_113615 Q4LDG9 DNAL1_HUMAN axonemal dynein light chain 1 50 LRR 1. 0 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) TTGCTAATTGCGAGTAAGTTC 0.403 NA 122 183 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102509067 102509067 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr14:102509067C>T uc001yks.2 + 69 12659 c.12495C>T c.(12493-12495)CCC>CCT p.P4165P NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4165 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GCAGCATTCCCGTCTCACGGA 0.557 NA 13 14 0 0 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259747 40259747 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr15:40259747C>T uc001zkm.1 + 9 1270 c.1220C>T c.(1219-1221)GCT>GTT p.A407V EIF2AK4_uc001zkl.2_Missense_Mutation_p.A407V|EIF2AK4_uc010bbj.1_Missense_Mutation_p.A136V NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 407 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AGGTACACAGCTCAGCTCCTG 0.532 NA 26 36 0 0 0 0 C15orf59 388135 broad.mit.edu 37 15 74043429 74043429 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr15:74043429C>T uc002avy.2 - 1 388 c.43G>A c.(43-45)GAC>AAC p.D15N NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 15 pancreas(1) 1 CTGCTGGGGTCGTCACTGGGC 0.652 NA 34 49 0 0 0 0 SOX8 30812 broad.mit.edu 37 16 1035131 1035131 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr16:1035131C>T uc002ckn.2 + 3 1201 c.1086C>T c.(1084-1086)AGC>AGT p.S362S NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 362 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) GTTCCTGCAGCGGCCAGTCCA 0.622 NA 4 1 0 0 0 0 NLRC5 84166 broad.mit.edu 37 16 57063689 57063689 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr16:57063689C>T uc002ekk.1 + 9 2473 c.2248C>T c.(2248-2250)CGG>TGG p.R750W NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.R555W|NLRC5_uc002ekm.2_Missense_Mutation_p.R555W|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 750 LRR 3. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) TCGCAGTTTTCGGGACAACCA 0.582 NA 8 8 0 0 0 0 GFOD2 81577 broad.mit.edu 37 16 67709163 67709163 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr16:67709163G>C uc002eub.2 - 3 1348 c.1053C>G c.(1051-1053)ATC>ATG p.I351M GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.I246M NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 351 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TCGACCTCTTGATGGCATCCA 0.657 NA 35 15 0 0 0 0 MBTPS1 8720 broad.mit.edu 37 16 84132744 84132744 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr16:84132744G>A uc002fhi.2 - 3 837 c.335C>T c.(334-336)GCG>GTG p.A112V NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 112 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TAGCAGCCCCGCTTTCTGTTT 0.423 NA 9 53 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10424679 10424679 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr17:10424679C>T uc010coi.2 - 40 5872 c.5744G>A c.(5743-5745)CGG>CAG p.R1915Q uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1915Q|MYH2_uc010coj.2_Missense_Mutation_p.R682Q NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1915 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AATGTCAGCCCGTTCCTCGGC 0.488 NA 56 115 0 0 0 0 PIPOX 51268 broad.mit.edu 37 17 27382170 27382170 + Missense_Mutation SNP C C A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr17:27382170C>A uc002hdr.1 + 6 1223 c.897C>A c.(895-897)AGC>AGA p.S299R NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 299 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity 0 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) AGATCCTGAGCAGCTTTGTCA 0.602 NA 17 138 2.38e-13 2.58e-13 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274150 39274150 + Missense_Mutation SNP T T A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr17:39274150T>A uc002hvz.2 - 1 457 c.418A>T c.(418-420)AGC>TGC p.S140C NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 140 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgctgcagctgggg 0.129 NA 4 37 0 0 0 0 ABCA10 10349 broad.mit.edu 37 17 67153022 67153022 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr17:67153022G>C uc010dfa.1 - 29 4285 c.3406C>G c.(3406-3408)CTG>GTG p.L1136V ABCA10_uc010wqs.1_Missense_Mutation_p.L128V|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1136 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TTCATTTCCAGACACCTTATG 0.289 NA 16 12 0 0 0 0 ABCA10 10349 broad.mit.edu 37 17 67171572 67171572 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr17:67171572C>T uc010dfa.1 - 24 3731 c.2852G>A c.(2851-2853)GGC>GAC p.G951D ABCA10_uc010wqs.1_5'UTR|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 951 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) GCTGCTCATGCCGATAAAAGG 0.343 NA 4 84 0 0 0 0 RECQL5 9400 broad.mit.edu 37 17 73661241 73661241 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr17:73661241C>T uc010dgl.2 - 3 298 c.142G>A c.(142-144)GTC>ATC p.V48I RECQL5_uc010dgk.2_Intron|RECQL5_uc002jpb.1_Missense_Mutation_p.V48I|RECQL5_uc002joz.3_Missense_Mutation_p.V48I|RECQL5_uc002jpa.3_Missense_Mutation_p.V48I NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 48 Helicase ATP-binding. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CACACAAAGACGTCCTTGTTA 0.378 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 45 145 0 0 0 0 MC5R 4161 broad.mit.edu 37 18 13826656 13826656 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr18:13826656C>T uc010xaf.1 + 1 892 c.892C>T c.(892-894)CGC>TGC p.R298C NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 298 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 ATATGCCTTCCGCAGCCAAGA 0.483 NA 60 73 0 0 0 0 FEM1A 55527 broad.mit.edu 37 19 4793183 4793183 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:4793183G>A uc002mbf.2 + 1 1456 c.1317G>A c.(1315-1317)GCG>GCA p.A439A uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 439 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TCTCCTTCGCGGAACTCTTCT 0.622 NA 49 83 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9083519 9083519 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9083519C>T uc002mkp.2 - 1 8500 c.8296G>A c.(8296-8298)GAA>AAA p.E2766K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2766 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTGAGTTTTCAGAACTCTGA 0.502 NA 27 39 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9084696 9084696 + Silent SNP C C T rs151239264 by1000genomes TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9084696C>T uc002mkp.2 - 1 7323 c.7119G>A c.(7117-7119)CTG>CTA p.L2373L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2373 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGGTGTTGATCAGATCAGAAG 0.443 NA 23 27 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9085596 9085596 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9085596C>T uc002mkp.2 - 1 6423 c.6219G>A c.(6217-6219)CTG>CTA p.L2073L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2073 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCCTGAGGACAGTGCCTCAG 0.473 NA 63 101 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9085982 9085982 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9085982C>T uc002mkp.2 - 1 6037 c.5833G>A c.(5833-5835)GAA>AAA p.E1945K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1945 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAAATGACTTCTTCCACTGGA 0.488 NA 30 39 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9086220 9086220 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9086220C>G uc002mkp.2 - 1 5799 c.5595G>C c.(5593-5595)TTG>TTC p.L1865F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1865 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CACCAGTATTCAATGACCTGT 0.502 NA 20 28 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9086743 9086743 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9086743C>T uc002mkp.2 - 1 5276 c.5072G>A c.(5071-5073)AGA>AAA p.R1691K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1691 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTGATGCTTCTTCCTGGAGC 0.483 NA 53 56 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9086890 9086890 + Missense_Mutation SNP C C A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9086890C>A uc002mkp.2 - 1 5129 c.4925G>T c.(4924-4926)GGA>GTA p.G1642V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1642 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGGGTGACTCCACTACTACT 0.512 NA 59 99 1.01e-23 1.11e-23 1 0 MUC16 94025 broad.mit.edu 37 19 9087590 9087590 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:9087590C>G uc002mkp.2 - 1 4429 c.4225G>C c.(4225-4227)GAG>CAG p.E1409Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1409 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACTGTGTCTCAAATCCAGAT 0.473 NA 54 78 0 0 0 0 TYK2 7297 broad.mit.edu 37 19 10473005 10473005 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:10473005C>T uc002moc.3 - 11 1982 c.1604G>A c.(1603-1605)GGC>GAC p.G535D TYK2_uc010dxe.2_Missense_Mutation_p.G350D|TYK2_uc002mod.2_Missense_Mutation_p.G535D NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 535 intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CAGCAAGCAGCCCTGCAAGGC 0.652 NA 3 40 0 0 0 0 CNN1 1264 broad.mit.edu 37 19 11657661 11657661 + Silent SNP C C A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:11657661C>A uc002msc.1 + 4 431 c.267C>A c.(265-267)GGC>GGA p.G89G CNN1_uc010xmb.1_Silent_p.G39G|CNN1_uc010xmc.1_Silent_p.G39G NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 89 CH. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 AGAACATCGGCAACTTCATCA 0.572 NA 8 75 5.18e-06 5.48e-06 1 0 GRAMD1A 57655 broad.mit.edu 37 19 35512474 35512474 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:35512474C>T uc010xse.1 + 14 1681 c.1544C>T c.(1543-1545)TCG>TTG p.S515L GRAMD1A_uc002nxk.2_Missense_Mutation_p.S508L|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S281L|GRAMD1A_uc010xsf.1_Missense_Mutation_p.S520L|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.S130L NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 515 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAGAAGAACTCGTGGAGCGGC 0.582 NA 31 46 0 0 0 0 LIN37 55957 broad.mit.edu 37 19 36245020 36245020 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:36245020C>T uc002obm.2 + 8 661 c.547C>T c.(547-549)CCA>TCA p.P183S uc002obl.2_5'Flank NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog 183 Pro-rich. protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CATCCCATCTCCACTGCAGCC 0.627 NA 24 28 0 0 0 0 HNRNPL 3191 broad.mit.edu 37 19 39330892 39330892 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:39330892G>A uc010xul.1 - 8 1088 c.1077C>T c.(1075-1077)TAC>TAT p.Y359Y HNRNPL_uc010ege.1_Silent_p.Y15Y|HNRNPL_uc002ojj.1_Silent_p.Y15Y|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.Y15Y|HNRNPL_uc002ojl.2_Silent_p.Y15Y|HNRNPL_uc010xum.1_Silent_p.Y226Y|HNRNPL_uc002ojp.1_Silent_p.Y15Y|HNRNPL_uc010xun.1_Missense_Mutation_p.T67M NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 359 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) ACTGGGGGCCGTAGCGACTTG 0.652 NA 5 6 0 0 0 0 PSG9 5678 broad.mit.edu 37 19 43763286 43763286 + Silent SNP C C T rs4028446 TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:43763286C>T uc002owd.3 - 4 810 c.711G>A c.(709-711)CCG>CCA p.P237P PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.S144S|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 237 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TGGGCAGCTTCGCTGTGTGGA 0.493 NA 74 146 0 0 0 0 ZNF667 63934 broad.mit.edu 37 19 56969527 56969527 + Missense_Mutation SNP G G T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr19:56969527G>T uc002qnd.2 - 4 412 c.250C>A c.(250-252)CCT>ACT p.P84T ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.P84T|ZNF667_uc010etm.2_5'UTR NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 84 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CACTCACCAGGAGCCCGGCGT 0.333 NA 6 73 3.6e-05 3.79e-05 1 0 TPO 7173 broad.mit.edu 37 2 1459985 1459985 + Silent SNP A A G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:1459985A>G uc002qww.2 + 7 841 c.750A>G c.(748-750)AAA>AAG p.K250K TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.K250K|TPO_uc002qwr.2_Silent_p.K250K|TPO_uc002qwx.2_Silent_p.K250K|TPO_uc010yio.1_Silent_p.K250K|TPO_uc010yip.1_Silent_p.K250K NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 250 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCACCAGCAAAGCTGCCTTCG 0.483 NA 11 20 0 0 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43871918 43871918 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:43871918G>A uc010yny.1 + 2 189 c.106G>A c.(106-108)GAG>AAG p.E36K PLEKHH2_uc002rte.3_Missense_Mutation_p.E36K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E36K NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 36 Potential. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAAGATACGAGAGCTTTTAGC 0.398 NA 20 27 0 0 0 0 KIAA1310 55683 broad.mit.edu 37 2 97274403 97274403 + Splice_Site SNP T T C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:97274403T>C uc002swn.3 - 14 1731 c.1585_splice c.e14-1 p.D529_splice KIAA1310_uc002swh.3_Splice_Site_p.D417_splice|KIAA1310_uc002swi.3_Splice_Site_p.D430_splice|KIAA1310_uc002swj.3_Splice_Site|KIAA1310_uc002swk.3_Splice_Site_p.D442_splice|KIAA1310_uc010fhz.2_Splice_Site_p.D323_splice|KIAA1310_uc002swl.3_Splice_Site_p.D430_splice|KIAA1310_uc002swm.3_Splice_Site|KIAA1310_uc010yur.1_Splice_Site_p.D323_splice|KIAA1310_uc002swp.1_Splice_Site_p.D430_splice NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 0 GGAGAGATCCTGAGTAAGGTG 0.522 NA 25 35 0 0 0 0 TSGA10 80705 broad.mit.edu 37 2 99721848 99721848 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:99721848C>G uc002szg.3 - 7 1061 c.433G>C c.(433-435)GAG>CAG p.E145Q TSGA10_uc002szh.3_Missense_Mutation_p.E145Q|TSGA10_uc002szi.3_Missense_Mutation_p.E145Q|TSGA10_uc010fin.1_Missense_Mutation_p.E145Q|TSGA10_uc010yvn.1_Missense_Mutation_p.E145Q NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 145 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 TCCAGCTCCTCTATCCTTTGT 0.338 NA 25 42 0 0 0 0 R3HDM1 23518 broad.mit.edu 37 2 136399147 136399147 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:136399147C>G uc002tuo.2 + 15 1631 c.1261C>G c.(1261-1263)CTT>GTT p.L421V R3HDM1_uc010fni.2_Missense_Mutation_p.L419V|R3HDM1_uc002tup.2_Missense_Mutation_p.L365V|R3HDM1_uc010zbh.1_Intron NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 421 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) TACAGGCTCTCTTTCTCACAT 0.438 NA 46 65 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167143021 167143021 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:167143021C>T uc010fpl.2 - 11 1768 c.1427G>A c.(1426-1428)AGA>AAA p.R476K uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R347K|SCN9A_uc002uds.1_Missense_Mutation_p.R347K|SCN9A_uc002udt.1_Missense_Mutation_p.R347K NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 476 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTGTTTCTTCTTTCTTTAGC 0.408 NA 25 29 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196602680 196602680 + Nonsense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:196602680G>A uc002utj.3 - 65 12141 c.12040C>T c.(12040-12042)CGA>TGA p.R4014* DNAH7_uc002uti.3_Nonsense_Mutation_p.R497* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 4014 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GCTACACCTCGTCCAATCCAG 0.433 NA 21 24 0 0 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202430560 202430560 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:202430560G>A uc002uye.2 - 9 917 c.869C>T c.(868-870)GCA>GTA p.A290V ALS2CR11_uc002uyf.2_Missense_Mutation_p.A290V|ALS2CR11_uc010fti.2_Missense_Mutation_p.A290V NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 290 large_intestine(1)|ovary(1)|skin(1) 3 GGATAAGAATGCTGGATATTC 0.393 NA 7 17 0 0 0 0 BCS1L 617 broad.mit.edu 37 2 219527690 219527690 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:219527690G>A uc002vio.2 + 7 1392 c.974G>A c.(973-975)CGC>CAC p.R325H BCS1L_uc002vip.2_Missense_Mutation_p.R325H|BCS1L_uc002viq.2_Missense_Mutation_p.R325H|BCS1L_uc010fvu.2_Missense_Mutation_p.R325H|BCS1L_uc010fvv.2_Missense_Mutation_p.R325H|BCS1L_uc002vir.2_Missense_Mutation_p.R325H|BCS1L_uc002vis.2_Missense_Mutation_p.R325H NM_004328 NP_004319 Q9Y276 BCS1_HUMAN BCS1-like 325 Mitochondrial matrix (Potential). mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding 0 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCGAGGCCCGCATCGTGTTC 0.582 NA 4 96 0 0 0 0 ACCN4 55515 broad.mit.edu 37 2 220396543 220396543 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:220396543C>T uc002vma.2 + 2 1041 c.1027C>T c.(1027-1029)CGG>TGG p.R343W ACCN4_uc010fwi.1_Missense_Mutation_p.R343W|ACCN4_uc010fwj.1_Missense_Mutation_p.R343W|ACCN4_uc002vly.1_Missense_Mutation_p.R343W|ACCN4_uc002vlz.2_Missense_Mutation_p.R343W|ACCN4_uc002vmb.2_5'UTR NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 343 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) GCTGCCCAGCCGGGCAGGGGG 0.627 NA 33 55 0 0 0 0 DNMT3B 1789 broad.mit.edu 37 20 31379433 31379433 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr20:31379433G>A uc002wyc.2 + 8 1161 c.840G>A c.(838-840)CTG>CTA p.L280L DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.L280L|DNMT3B_uc002wye.2_Silent_p.L280L|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.L238L|DNMT3B_uc010zua.1_Silent_p.L204L|DNMT3B_uc002wyf.2_Silent_p.L292L|DNMT3B_uc002wyg.2_5'UTR NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 280 PWWP.|Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 TGGTGGCACTGGGGCTGTTCA 0.483 NA 18 154 0 0 0 0 C20orf185 359710 broad.mit.edu 37 20 31651460 31651460 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr20:31651460G>A uc002wym.1 + 6 631 c.631G>A c.(631-633)GAG>AAG p.E211K NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 211 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 TGTGGTGAATGAGCTCCTGGG 0.587 NA 33 190 0 0 0 0 HIRA 7290 broad.mit.edu 37 22 19346902 19346902 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr22:19346902C>T uc002zpf.1 - 18 2411 c.2191G>A c.(2191-2193)GAG>AAG p.E731K HIRA_uc011agx.1_Missense_Mutation_p.E597K|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.E687K|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 731 Interaction with PAX3 (By similarity).|Interaction with histone H2B. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) AGTACCGTCTCCCACTCCTTC 0.602 NA 38 35 0 0 0 0 TRMT2A 27037 broad.mit.edu 37 22 20103246 20103246 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr22:20103246C>T uc002zrk.1 - 4 872 c.657G>A c.(655-657)AAG>AAA p.K219K TRMT2A_uc002zrl.1_Silent_p.K219K|TRMT2A_uc002zrm.1_Silent_p.K41K|TRMT2A_uc002zrn.1_Silent_p.K219K|TRMT2A_uc011ahk.1_Silent_p.K219K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 219 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 CCTTGTTGTGCTTGTGCCTCT 0.602 NA 10 19 0 0 0 0 ASPHD2 57168 broad.mit.edu 37 22 26829615 26829615 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr22:26829615G>C uc003acg.2 + 2 431 c.34G>C c.(34-36)GAT>CAT p.D12H NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 12 Cytoplasmic (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity ovary(1) 1 CCCGAGGACTGATTGTCTGAC 0.652 NA 11 20 0 0 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43206867 43206867 + Missense_Mutation SNP G G T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr22:43206867G>T uc003bdd.2 - 12 1368 c.1148C>A c.(1147-1149)ACC>AAC p.T383N ARFGAP3_uc010gzf.2_Missense_Mutation_p.T339N NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating 383 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(1) 1 ATCTTTGCTGGTCTCTTTTTT 0.428 NA 50 67 2.29e-23 2.52e-23 1 0 TBC1D22A 25771 broad.mit.edu 37 22 47393590 47393590 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr22:47393590G>A uc003bib.2 + 10 1321 c.1186G>A c.(1186-1188)GTG>ATG p.V396M TBC1D22A_uc010haf.2_Missense_Mutation_p.V366M|TBC1D22A_uc003bic.2_Missense_Mutation_p.V337M|TBC1D22A_uc003bie.2_Missense_Mutation_p.V318M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.V349M NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 396 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) AGAAGAACTCGTGAGCCGGAT 0.507 NA 43 52 0 0 0 0 TTLL3 26140 broad.mit.edu 37 3 9877030 9877030 + Nonsense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:9877030C>T uc003btg.2 + 13 2392 c.2176C>T c.(2176-2178)CGA>TGA p.R726* ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 726 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) GCCCCTGCTTCGATTCCCCAC 0.547 NA 45 12 0 0 0 0 SATB1 6304 broad.mit.edu 37 3 18391090 18391090 + Missense_Mutation SNP G G T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:18391090G>T uc003cbh.2 - 11 3599 c.1864C>A c.(1864-1866)CCT>ACT p.P622T SATB1_uc003cbi.2_Missense_Mutation_p.P654T|SATB1_uc003cbj.2_Missense_Mutation_p.P622T NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 622 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 GGGAGCCGAGGGCCTGTCTGT 0.468 NA 22 4 2.71e-06 2.87e-06 1 0 ENTPD3 956 broad.mit.edu 37 3 40457535 40457535 + Nonsense_Mutation SNP G G T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:40457535G>T uc003ckd.3 + 7 894 c.802G>T c.(802-804)GAG>TAG p.E268* ENTPD3_uc010hhy.2_Nonsense_Mutation_p.E268*|uc003cke.3_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 268 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GAATGAGGCTGAGAAGAAGTT 0.552 NA 15 5 4.15e-12 4.5e-12 1 0 USP19 10869 broad.mit.edu 37 3 49149394 49149394 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:49149394G>A uc003cwd.1 - 19 2705 c.2544C>T c.(2542-2544)GCC>GCT p.A848A USP19_uc003cwa.2_Silent_p.A656A|USP19_uc003cvz.3_Silent_p.A951A|USP19_uc011bcg.1_Silent_p.A939A|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.A606A|USP19_uc011bch.1_Silent_p.A949A NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 848 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGAGGCGTGAGGCAGGTACAC 0.607 NA 14 7 0 0 0 0 GNL3 26354 broad.mit.edu 37 3 52720819 52720819 + Silent SNP T T C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:52720819T>C uc003dfd.2 + 2 221 c.48T>C c.(46-48)CAT>CAC p.H16H PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.H4H|GNL3_uc003dff.2_Silent_p.H4H|SNORD19_uc003dfg.1_5'Flank NM_014366 NP_055181 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 16 Basic (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) TGACCTGCCATAAGCGGTATA 0.398 NA 18 7 0 0 0 0 ITIH1 3697 broad.mit.edu 37 3 52825552 52825552 + Silent SNP C C T rs143276781 byFrequency TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:52825552C>T uc003dfs.2 + 21 2538 c.2514C>T c.(2512-2514)ATC>ATT p.I838I ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.I439I|ITIH1_uc010hmo.1_Silent_p.I392I|ITIH1_uc003dfu.2_Silent_p.I204I NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 838 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TCCACCCCATCGGTTTTGAAG 0.597 NA 21 4 0 0 0 0 DCP1A 55802 broad.mit.edu 37 3 53376252 53376252 + Missense_Mutation SNP T T C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:53376252T>C uc003dgs.3 - 3 316 c.223A>G c.(223-225)ATG>GTG p.M75V DCP1A_uc003dgt.3_RNA NM_018403 NP_060873 Q9NPI6 DCP1A_HUMAN DCP1 decapping enzyme homolog A 75 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) AGATTGTGCATATTTAGTCGA 0.318 NA 7 1 0 0 0 0 PHLDB2 90102 broad.mit.edu 37 3 111637948 111637948 + Missense_Mutation SNP A A T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:111637948A>T uc010hqa.2 + 4 2160 c.1749A>T c.(1747-1749)AGA>AGT p.R583S PHLDB2_uc003dyc.2_Missense_Mutation_p.R610S|PHLDB2_uc003dyd.2_Missense_Mutation_p.R583S|PHLDB2_uc003dyg.2_Missense_Mutation_p.R583S|PHLDB2_uc003dyh.2_Missense_Mutation_p.R583S|PHLDB2_uc003dyi.2_Missense_Mutation_p.R169S NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 583 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AAGAACAGAGATCTCAGGAGT 0.403 NA 53 157 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124053163 124053163 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:124053163C>T uc003ehg.2 + 9 1589 c.1462C>T c.(1462-1464)CCT>TCT p.P488S KALRN_uc010hrv.1_Missense_Mutation_p.P488S|KALRN_uc003ehf.1_Missense_Mutation_p.P488S|KALRN_uc011bjy.1_Missense_Mutation_p.P488S NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 488 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 GCCCCTGAGCCCTGGGAACTC 0.567 NA 35 100 0 0 0 0 CLDN1 9076 broad.mit.edu 37 3 190026161 190026161 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:190026161G>A uc003fsh.2 - 4 761 c.541C>T c.(541-543)CTA>TTA p.L181L NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 181 Helical; (Potential). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CAGCAAAGTAGGGCACCTCCC 0.512 NA 22 119 0 0 0 0 ATP13A5 344905 broad.mit.edu 37 3 193068904 193068904 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:193068904G>A uc011bsq.1 - 7 693 c.693C>T c.(691-693)ATC>ATT p.I231I NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 231 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAGTCAAAATGATGATGGCCA 0.393 NA 30 58 0 0 0 0 SENP5 205564 broad.mit.edu 37 3 196657755 196657755 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr3:196657755G>C uc003fwz.3 + 10 2478 c.2229G>C c.(2227-2229)AGG>AGC p.R743S SENP5_uc011bty.1_Missense_Mutation_p.R697S NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 743 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TGCGGAAGAGGATTTACAAGG 0.488 NA 22 61 0 0 0 0 CEP135 9662 broad.mit.edu 37 4 56841014 56841014 + Missense_Mutation SNP A A G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr4:56841014A>G uc003hbi.2 + 11 1586 c.1352A>G c.(1351-1353)GAA>GGA p.E451G CEP135_uc003hbj.2_Missense_Mutation_p.E157G NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 451 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) AAAGGTATAGAAGAAGAACGA 0.388 NA 30 44 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158254056 158254056 + Missense_Mutation SNP G G A rs142538282 byFrequency TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr4:158254056G>A uc003ipm.3 + 7 1427 c.968G>A c.(967-969)CGA>CAA p.R323Q GRIA2_uc011cit.1_Missense_Mutation_p.R276Q|GRIA2_uc003ipl.3_Missense_Mutation_p.R323Q|GRIA2_uc003ipk.3_Missense_Mutation_p.R276Q|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 323 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GAAATCTCCCGAAGGGGGAAT 0.478 NA 39 57 0 0 0 0 PTCD2 79810 broad.mit.edu 37 5 71654182 71654182 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr5:71654182G>A uc003kcb.2 + 10 1105 c.1095G>A c.(1093-1095)ACG>ACA p.T365T PTCD2_uc011csf.1_Silent_p.T175T|PTCD2_uc003kcc.2_Silent_p.T213T|PTCD2_uc011csg.1_Silent_p.T193T|PTCD2_uc011csh.1_Silent_p.T256T|PTCD2_uc003kcd.2_RNA NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 365 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) AATCTCACACGTTGCTATTAA 0.532 NA 31 23 0 0 0 0 MARCH3 115123 broad.mit.edu 37 5 126206381 126206381 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr5:126206381G>C uc003kuf.2 - 5 1161 c.706C>G c.(706-708)CCG>GCG p.P236A NM_178450 NP_848545 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3 236 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) AGCAAGGACGGCTGGTTAGAA 0.463 NA 35 79 0 0 0 0 KLHL3 26249 broad.mit.edu 37 5 136974777 136974777 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr5:136974777G>A uc010jek.2 - 10 1528 c.1084C>T c.(1084-1086)CGG>TGG p.R362W KLHL3_uc011cyc.1_Missense_Mutation_p.R131W|KLHL3_uc003lbr.3_Missense_Mutation_p.R280W|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.R131W|KLHL3_uc010jem.1_Missense_Mutation_p.R322W NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 362 Kelch 2. cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) TCCACTGTCCGCACCCGCAGT 0.592 NA 3 31 0 0 0 0 MFAP3 4238 broad.mit.edu 37 5 153429537 153429537 + Nonsense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr5:153429537G>A uc003lvf.2 + 2 771 c.255G>A c.(253-255)TGG>TGA p.W85* MFAP3_uc010jib.2_Nonsense_Mutation_p.W85*|MFAP3_uc011ddb.1_Intron NM_001135037 NP_001128509 P55082 MFAP3_HUMAN microfibrillar-associated protein 3 isoform 2 85 Ig-like C2-type.|Extracellular (Potential). integral to membrane|plasma membrane 0 Renal(175;0.00488) Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201) ATGTCCATTGGCACAATTCAA 0.418 NA 18 32 0 0 0 0 BTN3A3 10384 broad.mit.edu 37 6 26448955 26448955 + Splice_Site SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr6:26448955G>A uc003nhz.2 + 8 1118 c.938_splice c.e8-1 p.K313_splice BTN3A3_uc003nia.2_Splice_Site_p.K271_splice|BTN3A3_uc011dkn.1_Splice_Site_p.E264_splice NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a integral to membrane 0 TTCCATTGCAGAGTGGAGGAA 0.448 NA 47 72 0 0 0 0 OR12D2 26529 broad.mit.edu 37 6 29365090 29365090 + Missense_Mutation SNP C C G TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr6:29365090C>G uc003nmf.3 + 1 675 c.614C>G c.(613-615)GCC>GGC p.A205G NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGGACAATTGCCATGGGCCCC 0.448 NA 59 87 0 0 0 0 C6orf154 221424 broad.mit.edu 37 6 43476039 43476039 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr6:43476039G>C uc003ovk.1 - 3 1454 c.553C>G c.(553-555)CTG>GTG p.L185V C6orf154_uc003ovj.1_Intron NM_001012974 NP_001012992 Q5JTD7 CF154_HUMAN hypothetical protein LOC221424 185 LRR 5. 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCCTCACCCAGGGGGTTGTAA 0.602 NA 11 25 0 0 0 0 GSTA2 2939 broad.mit.edu 37 6 52615381 52615381 + Missense_Mutation SNP C C A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr6:52615381C>A uc003pay.2 - 7 813 c.663G>T c.(661-663)AGG>AGT p.R221S NM_000846 NP_000837 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 221 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) TTTATTAAAACCTGAAAATCT 0.413 NA 6 91 4.1e-09 4.39e-09 1 0 IGF2R 3482 broad.mit.edu 37 6 160469544 160469544 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr6:160469544C>T uc003qta.2 + 18 2631 c.2483C>T c.(2482-2484)TCG>TTG p.S828L NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 828 6.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CGATATGCATCGGCTTGCCAG 0.483 NA 18 6 0 0 0 0 PDE1C 5137 broad.mit.edu 37 7 31890345 31890345 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr7:31890345G>A uc003tcm.1 - 8 1230 c.761C>T c.(760-762)ACG>ATG p.T254M PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.1_Missense_Mutation_p.T314M|PDE1C_uc003tcr.2_Missense_Mutation_p.T254M|PDE1C_uc003tcs.2_Missense_Mutation_p.T254M NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 254 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CTCCAGCTCCGTCAGCCAGTT 0.463 NA 35 11 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100685655 100685655 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr7:100685655G>A uc003uxp.1 + 3 11011 c.10958G>A c.(10957-10959)GGC>GAC p.G3653D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3653 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58. 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) TCTGAGGCTGGCACAGCTTCA 0.493 NA 4 177 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149473162 149473162 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr7:149473162C>T uc010lpk.2 + 1 32 c.32C>T c.(31-33)GCG>GTG p.A11V ZNF467_uc003wgc.2_5'Flank|ZNF467_uc003wgd.2_5'Flank|SSPO_uc010lpl.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 11 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TTTGGGATGGCGTGGGCCCTG 0.652 NA 9 8 0 0 0 0 LRRC67 286187 broad.mit.edu 37 8 67925256 67925256 + Silent SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr8:67925256C>T uc003xxc.2 - 4 517 c.372G>A c.(370-372)GAG>GAA p.E124E NM_001013626 NP_001013648 Q7Z4L9 LRC67_HUMAN leucine rich repeat containing 67 124 LRR 5. 0 GCCTCTGATTCTCAACATGAA 0.383 NA 32 75 0 0 0 0 BAT2L1 84726 broad.mit.edu 37 9 134340154 134340154 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr9:134340154C>T uc004can.3 + 11 1464 c.1409C>T c.(1408-1410)TCA>TTA p.S470L BAT2L1_uc010mzj.1_Missense_Mutation_p.S53L NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 470 protein binding 0 TGGCAGAAGTCATCAATGGGC 0.557 NA 3 16 0 0 0 0 TMEM164 84187 broad.mit.edu 37 X 109310602 109310602 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chrX:109310602C>T uc004eom.2 + 3 737 c.418C>T c.(418-420)CGG>TGG p.R140W TMEM164_uc004eol.2_5'UTR|TMEM164_uc010npq.2_Intron NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 140 integral to membrane large_intestine(1)|lung(1)|skin(1) 3 CCCTCCATGTCGGGGAGCTAT 0.403 NA 41 63 0 0 0 0 GRIA3 2892 broad.mit.edu 37 X 122532519 122532519 + Silent SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chrX:122532519G>A uc004etq.3 + 8 1238 c.945G>A c.(943-945)CTG>CTA p.L315L GRIA3_uc004etr.3_Silent_p.L315L|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.L299L NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 315 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) ACGCAATACTGGTCATAGCAG 0.453 NA 25 24 0 0 0 0 UPF2 26019 broad.mit.edu 37 10 11997456 11997456 + Frame_Shift_Del DEL T T - TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr10:11997456delT uc001ila.2 - 13 3099 c.2625delA c.(2623-2625)TTAfs p.L875fs UPF2_uc001ilb.2_Frame_Shift_Del_p.L875fs|UPF2_uc001ilc.2_Frame_Shift_Del_p.L875fs|UPF2_uc009xiz.1_Frame_Shift_Del_p.L875fs NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 875 Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) AAAGTTCTCCTAAGAACTTGG 0.368 NA 31 53 --- --- --- --- NA NA NA NA FLYWCH1 84256 broad.mit.edu 37 16 2980808 2980810 + In_Frame_Del DEL GGA GGA - TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr16:2980808_2980810delGGA uc002csd.2 + 4 1086_1088 c.723_725delGGA c.(721-726)CTGGAG>CTG p.E245del FLYWCH1_uc002csb.2_In_Frame_Del_p.E244del|FLYWCH1_uc002csc.2_In_Frame_Del_p.E244del|FLYWCH1_uc010bsv.2_5'Flank NM_032296 NP_115672 Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 isoform a 245 Poly-Glu. nucleus DNA binding|metal ion binding 0 AGCCGGCCCTGGAGGAGGAGGAG 0.704 NA 3 6 --- --- --- --- NA NA NA NA ZNF804A 91752 broad.mit.edu 37 2 185801739 185801740 + Frame_Shift_Ins INS - - A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr2:185801739_185801740insA uc002uph.2 + 4 2210_2211 c.1616_1617insA c.(1615-1617)GGAfs p.G539fs NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 539 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TGTGATTCTGGAAAAAATGAGA 0.347 NA 12 31 --- --- --- --- NA NA NA NA TPX2 22974 broad.mit.edu 37 20 30381707 30381707 + Frame_Shift_Del DEL T T - TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f3396a0-a38d-4069-b65a-c4c4dd6187ad e938fff8-12eb-4f2a-82c9-a0a98df3aabb g.chr20:30381707delT uc002wwp.1 + 14 2264 c.1566delT c.(1564-1566)CCTfs p.P522fs TPX2_uc010gdv.1_Frame_Shift_Del_p.P558fs NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 522 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATGGGGTGCCTTTTAAGCCCC 0.428 NA 7 890 --- --- --- --- NA NA NA NA