Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SFRS4 6429 broad.mit.edu 37 1 29475178 29475178 + Missense_Mutation SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:29475178G>C uc001bro.2 - 6 1602 c.1229C>G c.(1228-1230)TCC>TGC p.S410C SFRS4_uc010ofy.1_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 410 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) CTTTGACACGGAGCGGGATGG 0.448 NA 9 58 0 0 0.069234 0 0 TOE1 114034 broad.mit.edu 37 1 45808791 45808791 + Missense_Mutation SNP A A C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:45808791A>C uc009vxq.2 + 8 1533 c.950A>C c.(949-951)CAG>CCG p.Q317P MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.Q237P|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 317 C3H1-type. nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) CAGTGTCCTCAGTCTCACGAT 0.552 NA 6 99 0 0 0.02938 0 0 IFI44L 10964 broad.mit.edu 37 1 79101124 79101124 + Missense_Mutation SNP A A T rs149877350 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:79101124A>T uc010oro.1 + 5 1005 c.826A>T c.(826-828)ATG>TTG p.M276L IFI44L_uc010orp.1_Missense_Mutation_p.M13L|IFI44L_uc010orq.1_Missense_Mutation_p.M13L NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 276 cytoplasm 0 AGGACTGTGCATGGATGACAT 0.373 NA 42 621 0 0 0.048971 0 0 PRG4 10216 broad.mit.edu 37 1 186277099 186277099 + Missense_Mutation SNP G G A rs143599637 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:186277099G>A uc001gru.3 + 7 2299 c.2248G>A c.(2248-2250)GCT>ACT p.A750T PRG4_uc001grt.3_Missense_Mutation_p.A709T|PRG4_uc009wyl.2_Missense_Mutation_p.A657T|PRG4_uc009wym.2_Missense_Mutation_p.A616T|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 750 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|47; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TGACAAGCCCGCTCCAACTAC 0.607 NA 4 15 0 0 0.014758 0 0 LAMB3 3914 broad.mit.edu 37 1 209797336 209797336 + Silent SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:209797336G>C uc001hhg.2 - 14 2376 c.1986C>G c.(1984-1986)CTC>CTG p.L662L LAMB3_uc009xco.2_Silent_p.L662L|LAMB3_uc001hhh.2_Silent_p.L662L|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 662 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCAGGCCCTGGAGAGTTCGCC 0.532 NA 12 34 0 0 0.024245 0 0 KCNH1 3756 broad.mit.edu 37 1 211280627 211280627 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:211280627C>T uc001hib.2 - 2 342 c.172G>A c.(172-174)GCA>ACA p.A58T KCNH1_uc001hic.2_Missense_Mutation_p.A58T NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 58 Cytoplasmic (Potential).|PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ATCACTTCTGCCCTGTGATAG 0.388 NA 51 99 0 0 0.048971 0 0 TLR5 7100 broad.mit.edu 37 1 223283837 223283837 + Missense_Mutation SNP T T C rs5744177 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:223283837T>C uc001hnv.1 - 4 2983 c.2537A>G c.(2536-2538)GAC>GGC p.D846G TLR5_uc001hnw.1_Missense_Mutation_p.D846G NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 846 Cytoplasmic (Potential). Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) AATGTTATTGTCTTTCTTCTT 0.378 NA 5 94 0 0 0.021553 0 0 RYR2 6262 broad.mit.edu 37 1 237777703 237777703 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:237777703C>T uc001hyl.1 + 37 5395 c.5275C>T c.(5275-5277)CCA>TCA p.P1759S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1759 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCCCTCAGGCCACGGATGCA 0.512 NA 33 299 0 0 0.086207 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17363049 17363049 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:17363049C>A uc001ipd.2 - 8 1025 c.1025G>T c.(1024-1026)GGA>GTA p.G342V ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 342 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 GGGCCAGAATCCATACAGCTT 0.433 NA 131 271 9.59235e-44 1.07688e-43 0.048971 1 0 MAP3K8 1326 broad.mit.edu 37 10 30748249 30748249 + Silent SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:30748249G>C uc001ivi.1 + 8 1788 c.1092G>C c.(1090-1092)CTG>CTC p.L364L MAP3K8_uc009xlf.1_Silent_p.L364L|MAP3K8_uc001ivj.1_Silent_p.L364L NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 364 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) TGAGAGAGCTGATAGAAGCTT 0.527 NA 7 92 0 0 0.038147 0 0 MAP3K8 1326 broad.mit.edu 37 10 30748321 30748321 + Silent SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:30748321G>C uc001ivi.1 + 8 1860 c.1164G>C c.(1162-1164)CTG>CTC p.L388L MAP3K8_uc009xlf.1_Silent_p.L388L|MAP3K8_uc001ivj.1_Silent_p.L388L NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 388 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) ATGAGGCCCTGAACCCGCCCA 0.567 NA 7 57 0 0 0.038147 0 0 FAM178A 55719 broad.mit.edu 37 10 102690783 102690783 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:102690783C>T uc001krt.3 + 9 2926 c.2384C>T c.(2383-2385)TCT>TTT p.S795F FAM178A_uc001krs.2_Missense_Mutation_p.S795F NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 795 0 TTCCTTACGTCTGCTTATCAC 0.368 NA 24 268 0 0 0.045705 0 0 COL17A1 1308 broad.mit.edu 37 10 105801076 105801076 + Missense_Mutation SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:105801076G>T uc001kxr.2 - 38 2801 c.2632C>A c.(2632-2634)CCC>ACC p.P878T NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 878 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCTCGGGGTCCTGGTGGG 0.647 NA 6 45 1.26484e-09 1.4067e-09 0.038147 1 0 PNLIPRP3 119548 broad.mit.edu 37 10 118228714 118228714 + Silent SNP T T C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:118228714T>C uc001lcl.3 + 9 1046 c.945T>C c.(943-945)TGT>TGC p.C315C NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 315 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) GCTTCTTTTGTTCCAAAGAAG 0.313 NA 24 140 0 0 0.045705 0 0 NLRP10 338322 broad.mit.edu 37 11 7981660 7981660 + Missense_Mutation SNP T T C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:7981660T>C uc001mfv.1 - 2 1516 c.1499A>G c.(1498-1500)GAG>GGG p.E500G NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 500 ATP binding p.E500D(1) lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCCTTTACCTCCAGCAGCCT 0.493 NA 8 147 0 0 0.080935 0 0 HSD17B12 51144 broad.mit.edu 37 11 43819909 43819909 + Missense_Mutation SNP A A T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:43819909A>T uc001mxq.3 + 4 558 c.323A>T c.(322-324)GAC>GTC p.D108V NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 108 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity 0 ATTGCTGTTGACTTTGCATCA 0.368 Ovarian(58;548 1143 13948 16572 34258) NA 97 227 0 0 0.048971 0 0 OR5L2 26338 broad.mit.edu 37 11 55594807 55594807 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:55594807C>T uc001nhy.1 + 1 113 c.113C>T c.(112-114)ACG>ATG p.T38M NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TATGGAGTCACGTTGTTAGCC 0.502 NA HNSCC(27;0.073) 26 815 0 0 0.0918 0 0 AHNAK 79026 broad.mit.edu 37 11 62298621 62298621 + Missense_Mutation SNP G G A rs148272375 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:62298621G>A uc001ntl.2 - 5 3568 c.3268C>T c.(3268-3270)CCA>TCA p.P1090S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1090 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCTATCTTTGGTGCAGAGATA 0.468 NA 6 145 0 0 0.02938 0 0 KIF5A 3798 broad.mit.edu 37 12 57975228 57975228 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:57975228C>A uc001sor.1 + 25 2994 c.2786C>A c.(2785-2787)GCA>GAA p.A929E KIF5A_uc010srr.1_Missense_Mutation_p.A840E NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 929 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CACTACCCAGCATCCTCACCC 0.552 NA 16 60 4.96729e-08 5.423e-08 0.049695 1 0 PRKAB1 5564 broad.mit.edu 37 12 120110257 120110257 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:120110257C>A uc009zwu.2 + 3 414 c.311C>A c.(310-312)CCC>CAC p.P104H PRKAB1_uc001txg.2_Missense_Mutation_p.P104H NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 104 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) AGTAAACTTCCCCTCACCAGA 0.463 NA 4 29 4.096e-09 4.51319e-09 0.021553 1 0 C12orf43 64897 broad.mit.edu 37 12 121448918 121448918 + Missense_Mutation SNP T T A rs112728225 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:121448918T>A uc001tzh.1 - 2 200 c.177A>T c.(175-177)CAA>CAT p.Q59H C12orf43_uc009zxa.1_Missense_Mutation_p.Q59H|C12orf43_uc010szo.1_Missense_Mutation_p.Q17H|C12orf43_uc010szp.1_Missense_Mutation_p.Q59H|C12orf43_uc001tzi.1_Missense_Mutation_p.Q59H NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 59 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGAGGCTCGGTTGGGAGGTTG 0.274 NA 4 89 0 0 0.02938 0 0 GPR133 283383 broad.mit.edu 37 12 131471727 131471727 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:131471727C>T uc001uit.3 + 6 1137 c.578C>T c.(577-579)CCG>CTG p.P193L GPR133_uc010tbm.1_Missense_Mutation_p.P225L NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 193 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACCTCTGATCCGAGTGGAAAA 0.512 NA 6 106 0 0 0.02938 0 0 C14orf45 80127 broad.mit.edu 37 14 74495917 74495917 + Missense_Mutation SNP A A G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr14:74495917A>G uc010tup.1 + 3 439 c.316A>G c.(316-318)ACA>GCA p.T106A C14orf45_uc001xpm.1_5'Flank NM_025057 NP_079333 Q8ND07 CN045_HUMAN hypothetical protein LOC80127 106 Potential. 0 BRCA - Breast invasive adenocarcinoma(234;0.00351) ATTAAATGAAACAAAGGAAAA 0.358 NA 3 17 0 0 0.014758 0 0 KCNK13 56659 broad.mit.edu 37 14 90650622 90650622 + Nonsense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr14:90650622C>T uc001xye.1 + 2 944 c.502C>T c.(502-504)CGA>TGA p.R168* NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 168 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) GCTCCGGAGACGAGGGGCCCT 0.612 NA 14 67 0 0 0.038395 0 0 THBS1 7057 broad.mit.edu 37 15 39881468 39881468 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:39881468C>T uc001zkh.2 + 12 2018 c.1839C>T c.(1837-1839)CCC>CCT p.P613P THBS1_uc010bbi.2_Silent_p.P85P NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 613 EGF-like 2; calcium-binding (Potential). activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ACACGGACCCCGGCTACAACT 0.562 NA 14 68 0 0 0.020292 0 0 MAP1A 4130 broad.mit.edu 37 15 43818488 43818488 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:43818488C>A uc001zrt.2 + 4 5284 c.4817C>A c.(4816-4818)GCC>GAC p.A1606D NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1606 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGGTCAAGGCCATGGAAGAG 0.512 NA 6 46 0.00198382 0.00201773 0.02938 1 0 MYO5A 4644 broad.mit.edu 37 15 52643464 52643464 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:52643464G>A uc002aby.2 - 28 4080 c.3836C>T c.(3835-3837)GCC>GTC p.A1279V MYO5A_uc002abx.3_Missense_Mutation_p.A1279V|MYO5A_uc010ugd.1_Missense_Mutation_p.A31V|MYO5A_uc002aca.1_Missense_Mutation_p.A31V|MYO5A_uc002acb.1_Missense_Mutation_p.A31V|MYO5A_uc002acc.1_Missense_Mutation_p.A31V NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1279 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GGGTTGGATGGCCTCTTTCTG 0.512 NA 5 25 0 0 0.014758 0 0 UNC45A 55898 broad.mit.edu 37 15 91485697 91485697 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:91485697C>T uc002bqg.2 + 7 1058 c.718C>T c.(718-720)CGG>TGG p.R240W UNC45A_uc002bqd.2_Missense_Mutation_p.R225W|UNC45A_uc010uqo.1_Missense_Mutation_p.R232W|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.R240W NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 240 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ACTGGGAACTCGGCGAGTAGT 0.562 NA 4 30 0 0 0.021553 0 0 TTC23 64927 broad.mit.edu 37 15 99696405 99696405 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:99696405C>A uc002bur.2 - 11 1622 c.1091G>T c.(1090-1092)GGA>GTA p.G364V TTC23_uc002bus.2_Missense_Mutation_p.G364V|TTC23_uc002but.2_Missense_Mutation_p.G364V|TTC23_uc002buu.2_Missense_Mutation_p.G364V|TTC23_uc002buv.2_Missense_Mutation_p.G364V|TTC23_uc002bux.2_Missense_Mutation_p.G364V|TTC23_uc002buw.2_Missense_Mutation_p.G364V|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.G364V|TTC23_uc010bor.2_Missense_Mutation_p.G364V|TTC23_uc002buz.2_Missense_Mutation_p.G364V NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 364 TPR 4. binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) CAGGTCTGCTCCTCCCAGGAG 0.577 NA 7 43 0.000157383 0.000161454 0.038147 1 0 GPR139 124274 broad.mit.edu 37 16 20043736 20043736 + Missense_Mutation SNP A A T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr16:20043736A>T uc002dgu.1 - 2 545 c.383T>A c.(382-384)ATC>AAC p.I128N GPR139_uc010vaw.1_Missense_Mutation_p.I35N NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 128 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 GCAGACAGCGATATACCTGTC 0.507 NA 90 407 0 0 0.048971 0 0 SPIRE2 84501 broad.mit.edu 37 16 89911744 89911744 + Missense_Mutation SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr16:89911744G>T uc002foz.1 + 2 311 c.259G>T c.(259-261)GTC>TTC p.V87F SPIRE2_uc010civ.1_Missense_Mutation_p.V2F|SPIRE2_uc010ciw.1_Missense_Mutation_p.V87F NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 87 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TGCAACCATGGTCGTGCCACT 0.468 NA 4 28 3.59834e-05 3.7235e-05 0.021553 1 0 GSG2 83903 broad.mit.edu 37 17 3628194 3628194 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:3628194G>A uc002fwp.2 + 1 998 c.965G>A c.(964-966)CGC>CAC p.R322H ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN haspin 322 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity 0 CCCAAGGGCCGCATTGTGCCA 0.582 NA 3 18 0 0 0.004672 0 0 USP6 9098 broad.mit.edu 37 17 5041502 5041502 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:5041502G>A uc002gau.1 + 21 3242 c.1012G>A c.(1012-1014)GTG>ATG p.V338M USP6_uc002gav.1_Missense_Mutation_p.V338M|USP6_uc010ckz.1_Translation_Start_Site|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 338 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CGATGACACCGTGCTCAAGCA 0.582 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 7 43 0 0 0.058154 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612580 16612580 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:16612580C>T uc002gqk.1 + 5 1285 c.1209C>T c.(1207-1209)TGC>TGT p.C403C CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 403 0 AATTAGACTGCGACAATGATA 0.358 NA 68 50 0 0 0.048971 0 0 CYTSB 92521 broad.mit.edu 37 17 20108150 20108150 + Nonsense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:20108150C>G uc002gwq.2 + 4 933 c.788C>G c.(787-789)TCA>TGA p.S263* CYTSB_uc010cqx.2_Nonsense_Mutation_p.S263*|CYTSB_uc002gwr.2_Nonsense_Mutation_p.S263*|CYTSB_uc002gws.2_Nonsense_Mutation_p.S263*|CYTSB_uc002gwv.2_Nonsense_Mutation_p.S182*|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Nonsense_Mutation_p.S39*|CYTSB_uc002gwt.2_Nonsense_Mutation_p.S182*|CYTSB_uc002gwu.2_Nonsense_Mutation_p.S182* NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 263 Ser-rich. nucleus 0 TCCCCAAATTCAGAAGGGGCA 0.488 NA 7 218 0 0 0.058154 0 0 KLHL10 317719 broad.mit.edu 37 17 40004382 40004382 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:40004382G>A uc010cxr.2 + 5 1792 c.1650G>A c.(1648-1650)AAG>AAA p.K550K KLHL10_uc010wfw.1_Silent_p.K462K NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 550 Kelch 6. cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) ATGATGAAAAGACCGATGAGT 0.463 NA 12 117 0 0 0.09319 0 0 MYOM1 8736 broad.mit.edu 37 18 3102545 3102545 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr18:3102545C>G uc002klp.2 - 23 3836 c.3502G>C c.(3502-3504)GAG>CAG p.E1168Q MYOM1_uc002klq.2_Missense_Mutation_p.E1072Q NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1168 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CAGGAGAACTCGGACTTTGGA 0.413 NA 79 259 0 0 0.048971 0 0 Unknown 0 broad.mit.edu 37 19 9801053 9801053 + Missense_Mutation SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:9801053G>C uc010xkx.1 - 3 1437 c.814C>G c.(814-816)CGT>GGT p.R272G RecName: Full=Zinc finger protein 562; NA TGTTTACTACGATAGGAAGAA 0.393 NA 8 130 0 0 0.058154 0 0 ELOF1 84337 broad.mit.edu 37 19 11665121 11665121 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:11665121C>T uc002mse.1 - 2 106 c.42G>A c.(40-42)AAG>AAA p.K14K ELOF1_uc002msd.1_Silent_p.K35K NM_032377 NP_115753 P60002 ELOF1_HUMAN elongation factor 1 homolog (ELF1, S. 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding 0 CTGTCATCTTCTTCTTGGGAG 0.552 NA 15 61 0 0 0.043863 0 0 LYL1 4066 broad.mit.edu 37 19 13211508 13211508 + Silent SNP C C T rs142687463 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:13211508C>T uc002mwi.2 - 3 751 c.390G>A c.(388-390)AAG>AAA p.K130K NM_005583 NP_005574 P12980 LYL1_HUMAN lymphoblastic leukemia derived sequence 1 130 B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 0 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) TTGGTCTCCGCTTCAACCGGC 0.562 NA T TRB@ T-ALL 7 59 0 0 0.047766 0 0 ANKRD27 84079 broad.mit.edu 37 19 33140660 33140660 + Silent SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:33140660G>T uc002ntn.1 - 3 297 c.141C>A c.(139-141)ATC>ATA p.I47I ANKRD27_uc002nto.1_Silent_p.I47I NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 47 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) AAGTAGACTGGATGCTGCTCG 0.448 NA 9 113 7.48243e-07 8.09463e-07 0.058154 1 0 TEX101 83639 broad.mit.edu 37 19 43922153 43922153 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:43922153C>A uc010xwo.1 + 5 710 c.515C>A c.(514-516)ACT>AAT p.T172N TEX101_uc002owk.2_Missense_Mutation_p.T190N NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 172 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) CTTGAGATCACTGGAGGTAAA 0.483 NA 15 182 8.34094e-07 8.86224e-07 0.049695 1 0 ERCC2 2068 broad.mit.edu 37 19 45860756 45860756 + Missense_Mutation SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:45860756G>T uc002pbj.2 - 14 1400 c.1353C>A c.(1351-1353)TTC>TTA p.F451L ERCC2_uc002pbh.2_Missense_Mutation_p.F14L|ERCC2_uc002pbi.2_Missense_Mutation_p.F144L|ERCC2_uc010ejz.2_Missense_Mutation_p.F373L|ERCC2_uc002pbk.2_Missense_Mutation_p.F427L NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 451 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGACAGACTGGAAACGCTCAA 0.642 NA Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 13 22 3.52763e-06 3.71494e-06 0.0333 1 0 ZNF671 79891 broad.mit.edu 37 19 58232868 58232868 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:58232868C>T uc002qpz.3 - 4 685 c.586G>A c.(586-588)GCA>ACA p.A196T ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.A119T|ZNF671_uc010yhf.1_Missense_Mutation_p.A98T NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 196 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTCCACATGCCCCACACAAG 0.488 NA 6 69 0 0 0.021553 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366566 40366566 + Missense_Mutation SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:40366566G>C uc002rrx.2 - 9 2544 c.2520C>G c.(2518-2520)TTC>TTG p.F840L uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.F835L|SLC8A1_uc002rrz.2_Missense_Mutation_p.F827L|SLC8A1_uc002rsa.2_Missense_Mutation_p.F804L|SLC8A1_uc002rsd.3_Missense_Mutation_p.F804L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 840 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAAGTGCGACGAACACGACTG 0.463 NA 41 72 0 0 0.045515 0 0 PKP4 8502 broad.mit.edu 37 2 159499085 159499085 + Nonsense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:159499085C>T uc002tzv.2 + 11 2043 c.1783C>T c.(1783-1785)CGA>TGA p.R595* PKP4_uc002tzt.1_Nonsense_Mutation_p.R447*|PKP4_uc002tzu.2_Nonsense_Mutation_p.R595*|PKP4_uc002tzw.2_Nonsense_Mutation_p.R595*|PKP4_uc002tzx.2_Nonsense_Mutation_p.R252*|PKP4_uc002tzy.1_Nonsense_Mutation_p.R253*|PKP4_uc002tzz.1_Nonsense_Mutation_p.R593*|PKP4_uc002uaa.2_Nonsense_Mutation_p.R447* NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 595 ARM 3. cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TGGTGCCCTTCGAAACCTCGT 0.418 NA HNSCC(62;0.18) 10 302 0 0 0.080935 0 0 XRCC5 7520 broad.mit.edu 37 2 216983788 216983788 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:216983788C>T uc002vfy.2 + 5 531 c.391C>T c.(391-393)CAT>TAT p.H131Y XRCC5_uc002vfz.2_Missense_Mutation_p.H17Y NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 131 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) TGAGAAGAGGCATATTGAAAT 0.343 NA Direct_reversal_of_damage|NHEJ 13 149 0 0 0.024245 0 0 FAM110A 83541 broad.mit.edu 37 20 826325 826325 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:826325C>T uc002wef.1 + 2 1214 c.878C>T c.(877-879)GCT>GTT p.A293V FAM110A_uc002weg.1_Missense_Mutation_p.A293V|FAM110A_uc002weh.1_Missense_Mutation_p.A293V|FAM110A_uc010fzz.2_RNA NM_001042353 NP_001035812 Q9BQ89 F110A_HUMAN hypothetical protein LOC83541 293 microtubule organizing center|spindle pole protein binding 0 AGCCCAGCAGCTGAAGGCTAG 0.627 NA 6 18 0 0 0.047766 0 0 PROKR2 128674 broad.mit.edu 37 20 5294752 5294752 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:5294752G>A uc010zqw.1 - 1 264 c.264C>T c.(262-264)ACC>ACT p.T88T PROKR2_uc010zqx.1_Silent_p.T88T|PROKR2_uc010zqy.1_Silent_p.T88T|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 88 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 TGAGCAGATTGGTGAGGTTGC 0.557 NA HNSCC(71;0.22) 5 73 0 0 0.021553 0 0 SFRS6 6431 broad.mit.edu 37 20 42089474 42089474 + Missense_Mutation SNP A A G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:42089474A>G uc010zwg.1 + 6 976 c.806A>G c.(805-807)TAT>TGT p.Y269C SFRS6_uc002xki.2_Missense_Mutation_p.Y140C|SFRS6_uc002xkk.2_Intron NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 269 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AAGGATGAGTATGAGAAATCT 0.453 NA 4 52 0 0 0.009096 0 0 CABLES2 81928 broad.mit.edu 37 20 60966358 60966358 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:60966358C>G uc002ycv.2 - 9 1250 c.1243G>C c.(1243-1245)GCT>CCT p.A415P NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 415 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) ATCTTGGCAGCCAGCAGCACG 0.627 NA 5 17 0 0 0.014758 0 0 LARGE 9215 broad.mit.edu 37 22 33777944 33777944 + Silent SNP G G A rs144216539 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr22:33777944G>A uc003and.3 - 10 1671 c.1092C>T c.(1090-1092)ACC>ACT p.T364T LARGE_uc011amd.1_Silent_p.T163T|LARGE_uc003ane.3_Silent_p.T364T|LARGE_uc010gwp.2_Silent_p.T364T|LARGE_uc011ame.1_Silent_p.T296T|LARGE_uc011amf.1_Silent_p.T364T|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 364 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GCTCGGAGCGGGTGTGGTCTG 0.552 Colon(70;397 1175 4573 19089 45288) NA 5 98 0 0 0.02938 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977661 12977661 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:12977661C>T uc003bxt.2 - 3 906 c.897G>A c.(895-897)TCG>TCA p.S299S IQSEC1_uc003bxu.3_Silent_p.S177S|IQSEC1_uc011auw.1_Silent_p.S285S NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 299 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 CATCACTGTACGAGGCCGTCA 0.687 NA 4 14 0 0 0.02938 0 0 ZNF860 344787 broad.mit.edu 37 3 32031055 32031055 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:32031055C>T uc011axg.1 + 2 1033 c.484C>T c.(484-486)CAT>TAT p.H162Y NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTTCATTCGCATCTTCCTGA 0.413 NA 10 172 0 0 0.09319 0 0 ZNF860 344787 broad.mit.edu 37 3 32031135 32031135 + Silent SNP A A G rs6419811 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:32031135A>G uc011axg.1 + 2 1113 c.564A>G c.(562-564)TCA>TCG p.S188S NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGCTTCCTCAGTTCTAACGT 0.358 NA 4 78 0 0 0.014758 0 0 MAP4 4134 broad.mit.edu 37 3 47958078 47958078 + Silent SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:47958078G>C uc003csb.2 - 7 1765 c.1239C>G c.(1237-1239)CTC>CTG p.L413L MAP4_uc003csc.3_Silent_p.L413L|MAP4_uc011bbf.1_Silent_p.L390L|MAP4_uc003csf.3_Silent_p.L430L NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 413 17 X 14 AA tandem repeats.|9. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CTATTTCTGAGAGTAATACCA 0.463 NA 6 198 0 0 0.038147 0 0 TWF2 11344 broad.mit.edu 37 3 52269072 52269072 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:52269072G>A uc003ddd.2 - 2 227 c.76C>T c.(76-78)CGG>TGG p.R26W TWF2_uc010hmc.2_Missense_Mutation_p.R26W NM_007284 NP_009215 Q6IBS0 TWF2_HUMAN twinfilin-like protein 26 ADF-H 1. cytoskeleton|perinuclear region of cytoplasm actin binding|ATP binding stomach(1)|ovary(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTGATGAGCCGCACAGAGCCA 0.582 NA 3 21 0 0 0.004672 0 0 BOC 91653 broad.mit.edu 37 3 112998717 112998717 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:112998717G>A uc003dzx.2 + 13 2688 c.2067G>A c.(2065-2067)GAG>GAA p.E689E BOC_uc003dzy.2_Silent_p.E689E|BOC_uc003dzz.2_Silent_p.E690E|BOC_uc003eab.2_Silent_p.E390E|BOC_uc003eac.2_Silent_p.E4E NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 689 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) TGCTGGGGGAGAGCGAGCCCA 0.602 NA 4 34 0 0 0.021553 0 0 PLA1A 51365 broad.mit.edu 37 3 119328403 119328403 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:119328403G>A uc003ecu.2 + 4 581 c.542G>A c.(541-543)GGC>GAC p.G181D PLA1A_uc003ecv.2_Missense_Mutation_p.G165D|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.G8D NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 181 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CTCTTCGGAGGCCAGCTGGGA 0.537 NA 46 179 0 0 0.048971 0 0 JMY 133746 broad.mit.edu 37 5 78602256 78602256 + Missense_Mutation SNP A A C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:78602256A>C uc003kfx.3 + 7 2460 c.1940A>C c.(1939-1941)GAA>GCA p.E647A JMY_uc003kfw.1_Missense_Mutation_p.E293A NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 647 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ATTGAAGATGAATATAGAACC 0.303 NA 22 453 0 0 0.050027 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558166 140558166 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:140558166G>A uc011dai.1 + 1 737 c.551G>A c.(550-552)CGC>CAC p.R184H PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 184 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCCTCACCCGCAAACGCAGT 0.483 NA 9 25 0 0 0.080935 0 0 GEMIN5 25929 broad.mit.edu 37 5 154270922 154270922 + Silent SNP A A G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:154270922A>G uc003lvx.3 - 26 4224 c.4141T>C c.(4141-4143)TTG>CTG p.L1381L GEMIN5_uc011ddk.1_Silent_p.L1380L NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 1381 Potential. ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTTCTGCCAAGGTCTCTTGG 0.453 NA 17 134 0 0 0.049695 0 0 PRSS16 10279 broad.mit.edu 37 6 27215709 27215709 + Missense_Mutation SNP G G C rs114674760 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:27215709G>C uc003nja.2 + 2 131 c.119G>C c.(118-120)AGC>ACC p.S40T PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.S40T|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 40 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 TTTCAGGAGAGCTCTGCCCAG 0.642 NSCLC(178;1118 2105 17078 23587 44429) NA 7 105 0 0 0.058154 0 0 CYP21A2 1589 broad.mit.edu 37 6 31975129 31975129 + Silent SNP T T C rs113153064 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:31975129T>C uc010jtp.2 + 8 940 c.822T>C c.(820-822)TCT>TCC p.S274S CYP21A2_uc011dpb.1_Silent_p.S244S P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 273 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 AAGAGGGCTCTGGACAGCTCC 0.607 Melanoma(174;1669 1998 3915 34700 46447) NA 3 12 0 0 0.004672 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826855 34826855 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:34826855C>T uc003oju.3 + 14 2956 c.2722C>T c.(2722-2724)CTA>TTA p.L908L UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 908 ovary(3) 3 AGATTCAGAGCTATCTCCTTC 0.527 NA 4 72 0 0 0.009096 0 0 THEMIS 387357 broad.mit.edu 37 6 128134143 128134143 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:128134143C>G uc003qbi.2 - 5 1962 c.1643G>C c.(1642-1644)AGC>ACC p.S548T THEMIS_uc010kfa.2_Missense_Mutation_p.S451T|THEMIS_uc011ebt.1_Missense_Mutation_p.S548T|THEMIS_uc010kfb.2_Missense_Mutation_p.S513T NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 548 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TGAGGCTGAGCTTTCATATCT 0.463 NA 42 143 0 0 0.104719 0 0 SAMD3 154075 broad.mit.edu 37 6 130465801 130465801 + Missense_Mutation SNP A A C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:130465801A>C uc003qbv.2 - 13 1753 c.1427T>G c.(1426-1428)TTT>TGT p.F476C SAMD3_uc003qbx.2_Missense_Mutation_p.F476C|SAMD3_uc003qbw.2_Missense_Mutation_p.F476C NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 476 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CTCAATCCTAAATACATGAAA 0.418 NA 10 346 0 0 0.020292 0 0 FUCA2 2519 broad.mit.edu 37 6 143823616 143823616 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:143823616C>T uc003qjm.2 - 4 931 c.839G>A c.(838-840)CGT>CAT p.R280H FUCA2_uc003qjn.2_Missense_Mutation_p.R34H NM_032020 NP_114409 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma precursor 280 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) TGGGTTATAACGATCACTGCA 0.468 NA 14 322 0 0 0.024245 0 0 PMS2 5395 broad.mit.edu 37 7 6045634 6045634 + Missense_Mutation SNP T T C rs63750123 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr7:6045634T>C uc003spl.2 - 2 139 c.52A>G c.(52-54)ATT>GTT p.I18V PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.I18V|PMS2_uc010ktf.1_Missense_Mutation_p.I18V NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 18 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TTCCGATCAATAGGTTTGATG 0.418 NA Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 7 170 0 0 0.038147 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr7:55259515T>G uc003tqk.2 + 21 2819 c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537 L858R(NCIH1975_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 109 312 0 0 0.048971 0 0 FLNC 2318 broad.mit.edu 37 7 128480629 128480629 + Missense_Mutation SNP G G A rs34932223 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr7:128480629G>A uc003vnz.3 + 10 1786 c.1577G>A c.(1576-1578)CGG>CAG p.R526Q FLNC_uc003voa.3_Missense_Mutation_p.R526Q NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 526 Filamin 3. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GTGAAGGTGCGGGAGGCTGGG 0.612 NA 5 35 0 0 0.021553 0 0 PPP2CB 5516 broad.mit.edu 37 8 30655229 30655229 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:30655229G>A uc003xik.2 - 4 589 c.354C>T c.(352-354)CAC>CAT p.H118H NM_004156 NP_004147 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta 118 Proton donor (By similarity). protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) GTCGGCTTTCGTGATTTCCTC 0.363 NA 3 43 0 0 0.014758 0 0 POTEA 340441 broad.mit.edu 37 8 43197329 43197329 + Splice_Site SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:43197329G>A uc003xpz.1 + 11 1262 c.1219_splice c.e11-1 p.V407_splice POTEA_uc003xqa.1_Splice_Site_p.V361_splice NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 ovary(1) 1 TTATCTTACAGGTCAAAAGCC 0.318 NA 66 193 0 0 0.048971 0 0 PXDNL 137902 broad.mit.edu 37 8 52359654 52359654 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:52359654C>G uc003xqu.3 - 12 1536 c.1435G>C c.(1435-1437)GCA>CCA p.A479P NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 479 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCGTGCTGTGCTGCACGGTCA 0.463 NA 46 429 0 0 0.048971 0 0 OTUD6B 51633 broad.mit.edu 37 8 92090700 92090700 + Silent SNP T T C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:92090700T>C uc003yeu.3 + 4 621 c.522T>C c.(520-522)GCT>GCC p.A174A OTUD6B_uc011lgh.1_Silent_p.A43A NM_016023 NP_057107 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 144 ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(11;0.0187) TATTGGCAGCTAGACAGTTAG 0.398 NA 3 30 0 0 0.009096 0 0 GPR172A 79581 broad.mit.edu 37 8 145583657 145583657 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:145583657C>T uc003zcc.1 + 3 662 c.505C>T c.(505-507)CGC>TGC p.R169C FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R169C|GPR172A_uc003zce.1_Missense_Mutation_p.R169C|GPR172A_uc010mfy.1_Missense_Mutation_p.R169C|GPR172A_uc003zcf.1_Missense_Mutation_p.R169C|GPR172A_uc011llc.1_Missense_Mutation_p.R81C NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 169 integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GGGTGTGGGCCGCCTCGAGTG 0.662 NA 3 5 0 0 0.004672 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625382 43625382 + Missense_Mutation SNP G G A rs143826416 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:43625382G>A uc011lrb.1 - 4 3334 c.3305C>T c.(3304-3306)CCT>CTT p.P1102L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1102 integral to membrane 0 CTTGTGAATAGGGGGAAACAT 0.483 NA 4 34 0 0 0.047766 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A rs11261835 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:43627428G>A uc011lrb.1 - 4 1288 c.1259C>T c.(1258-1260)CCC>CTC p.P420L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 420 integral to membrane 0 GTGCAGAGAGGGGAGGCCCCA 0.498 NA 7 39 0 0 0.105934 0 0 DBC1 1620 broad.mit.edu 37 9 121930416 121930416 + Missense_Mutation SNP C C T rs141766717 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:121930416C>T uc004bkc.2 - 8 1688 c.1232G>A c.(1231-1233)CGG>CAG p.R411Q NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 411 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CACGCAGCTCCGCTGGCTCTC 0.597 NA 9 11 0 0 0.069234 0 0 TOR1A 1861 broad.mit.edu 37 9 132585013 132585013 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:132585013C>T uc004byl.2 - 2 368 c.291G>A c.(289-291)ACG>ACA p.T97T TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Silent_p.T97T NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 97 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) GCAGGGAGAGCGTGAGAGGTT 0.473 NA 6 77 0 0 0.021553 0 0 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G G A rs10521 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:139397707G>A uc004chz.2 - 27 5094 c.5094C>T c.(5092-5094)GAC>GAT p.D1698D NOTCH1_uc004cia.1_Silent_p.D928D NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1698 Extracellular (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.D1699D(11) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCGGCCACGTCGGTGGCAC 0.632 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 2 3 0 0 0.004672 0 0 REPS2 9185 broad.mit.edu 37 X 17073016 17073016 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chrX:17073016G>A uc004cxv.1 + 8 1228 c.1057G>A c.(1057-1059)GGC>AGC p.G353S REPS2_uc004cxw.1_Missense_Mutation_p.G352S|REPS2_uc011miw.1_Missense_Mutation_p.G212S NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 353 EH 2. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) TCGGAAGAACGGCTACCCATT 0.512 NA 8 156 0 0 0.047766 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427306 71427306 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chrX:71427306C>T uc004eaq.1 - 2 1408 c.1311G>A c.(1309-1311)GAG>GAA p.E437E PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.E314E NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 437 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) AATCTTCCCCCTCATTTCCAT 0.423 NA 31 611 0 0 0.104719 0 0 HTATSF1 27336 broad.mit.edu 37 X 135592250 135592250 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chrX:135592250G>A uc004ezw.2 + 9 1356 c.934G>A c.(934-936)GAT>AAT p.D312N HTATSF1_uc004ezx.2_Missense_Mutation_p.D312N NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 312 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAGGCACCCAGATGGTGTGGC 0.398 NA 36 400 0 0 0.09836 0 0 CSMD2 114784 broad.mit.edu 37 1 34401515 34401515 + Frame_Shift_Del DEL G G - rs150564422 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:34401515delG uc001bxn.1 - 4 467 c.438delC c.(436-438)CCCfs p.P146fs CSMD2_uc001bxm.1_Frame_Shift_Del_p.P186fs NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 146 Sushi 1.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGATGCCATTGGGCAGCCTCC 0.612 NA 8 2109 --- --- --- --- NA NA NA NA NA SPRR3 6707 broad.mit.edu 37 1 152975806 152975829 + In_Frame_Del DEL CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - rs72704847 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - - CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA uc001fax.3 + 3 460_483 c.310_333delCCAGGCTACACCAAGGTCCCTGAA c.(310-333)CCAGGCTACACCAAGGTCCCTGAAdel p.PGYTKVPE104del SPRR3_uc001faz.3_In_Frame_Del_p.PGYTKVPE104del|SPRR3_uc001fay.2_In_Frame_Del_p.PGYTKVPE96del NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 104_111 9.|14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity skin(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA 0.567 NA 53 303 --- --- --- --- NA NA NA NA NA HAX1 10456 broad.mit.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:154246356_154246357insG uc001fes.2 + 3 584_585 c.423_424insG c.(421-426)TTTGGGfs p.F141fs HAX1_uc001fet.2_Frame_Shift_Ins_p.F93fs|HAX1_uc010peo.1_Frame_Shift_Ins_p.F149fs|HAX1_uc009wou.2_Frame_Shift_Ins_p.F66fs|HAX1_uc009wov.2_Frame_Shift_Ins_p.F115fs NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 141_142 Involved in HCLS1 binding. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGATCTTTGGGGGGGTCTT 0.554 NA Kostmann_syndrome 8 230 --- --- --- --- NA NA NA NA NA ROBO4 54538 broad.mit.edu 37 11 124765393 124765394 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:124765393_124765394insC uc001qbg.2 - 6 1135_1136 c.995_996insG c.(994-996)GGCfs p.G332fs ROBO4_uc010sas.1_Frame_Shift_Ins_p.G187fs|ROBO4_uc001qbh.2_Frame_Shift_Ins_p.G222fs|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 332 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGCTGTCAGGGCCTCGAGCCCG 0.609 NA 7 166 --- --- --- --- NA NA NA NA NA ACRV1 56 broad.mit.edu 37 11 125550635 125550645 + Frame_Shift_Del DEL CCAAGCAGATA CCAAGCAGATA - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 CCAAGCAGATA CCAAGCAGATA - - CCAAGCAGATA CCAAGCAGATA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:125550635_125550645delCCAAGCAGATA uc001qcs.2 - 1 298_308 c.31_41delTATCTGCTTGG c.(31-42)TATCTGCTTGGAfs p.Y11fs ACRV1_uc001qck.2_Frame_Shift_Del_p.Y11fs|ACRV1_uc001qcl.2_Frame_Shift_Del_p.Y11fs|ACRV1_uc001qcm.2_Frame_Shift_Del_p.Y11fs|ACRV1_uc001qcn.2_Frame_Shift_Del_p.Y11fs|ACRV1_uc001qco.2_Frame_Shift_Del_p.Y11fs|ACRV1_uc001qcp.2_Frame_Shift_Del_p.Y11fs|ACRV1_uc001qcq.2_Frame_Shift_Del_p.Y11fs|ACRV1_uc001qcr.2_Frame_Shift_Del_p.Y11fs NM_001612 NP_001603 P26436 ASPX_HUMAN acrosomal vesicle protein 1 isoform a precursor 11_14 multicellular organismal development acrosomal vesicle 0 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) TCTGGCAGATCCAAGCAGATAAAGACTCATT 0.469 NA 93 539 --- --- --- --- NA NA NA NA NA FOXM1 2305 broad.mit.edu 37 12 2977901 2977910 + Frame_Shift_Del DEL GGTCTCGAAG GGTCTCGAAG - rs148573089 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 GGTCTCGAAG GGTCTCGAAG - - GGTCTCGAAG GGTCTCGAAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:2977901_2977910delGGTCTCGAAG uc001qlf.2 - 4 930_939 c.665_674delCTTCGAGACC c.(664-675)CCTTCGAGACCAfs p.P222fs FOXM1_uc001qle.2_Frame_Shift_Del_p.P222fs|FOXM1_uc001qlg.2_Frame_Shift_Del_p.P222fs|FOXM1_uc009zea.2_Frame_Shift_Del_p.P221fs|FOXM1_uc009zeb.2_Frame_Shift_Del_p.P221fs NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 222_225 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGACGCTGATGGTCTCGAAGGCTCCTCAAC 0.505 NA 8 155 --- --- --- --- NA NA NA NA NA SIPA1L1 26037 broad.mit.edu 37 14 72165808 72165809 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr14:72165808_72165809insG uc001xms.2 + 11 3833_3834 c.3485_3486insG c.(3484-3486)GTGfs p.V1162fs SIPA1L1_uc001xmt.2_Frame_Shift_Ins_p.V1162fs|SIPA1L1_uc001xmu.2_Frame_Shift_Ins_p.V1162fs|SIPA1L1_uc001xmv.2_Frame_Shift_Ins_p.V1162fs|SIPA1L1_uc010ttm.1_Frame_Shift_Ins_p.V637fs NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1162 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTGGTTCTGTGGGGGGCACTT 0.495 NA 8 486 --- --- --- --- NA NA NA NA NA NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr16:14980694_14980695insC uc002dcv.2 + 28 3365_3366 c.3299_3300insC c.(3298-3300)TTCfs p.F1100fs NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 1100 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 TTCTTCCATTTCCCCCCACTGC 0.475 NA 7 721 --- --- --- --- NA NA NA NA NA GPATCH8 23131 broad.mit.edu 37 17 42476034 42476035 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:42476034_42476035insG uc002igw.1 - 8 3474_3475 c.3410_3411insC c.(3409-3411)CCAfs p.P1137fs GPATCH8_uc002igv.1_Frame_Shift_Ins_p.P1059fs|GPATCH8_uc010wiz.1_Frame_Shift_Ins_p.P1059fs NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1137 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCCAAGAGATGGGGGGAGCTT 0.554 NA 9 634 --- --- --- --- NA NA NA NA NA U2AF2 11338 broad.mit.edu 37 19 56171936 56171937 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:56171936_56171937insC uc002qlu.2 + 4 1340_1341 c.285_286insC c.(283-288)CCACCCfs p.P95fs U2AF2_uc002qlt.2_Frame_Shift_Ins_p.P95fs NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 95_96 P->G: Decreases affinity for UAF1 by 2 orders of magnitude. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GGGACGTGCCACCCCCAGGCTT 0.634 NA 7 117 --- --- --- --- NA NA NA NA NA ASXL2 55252 broad.mit.edu 37 2 25966872 25966873 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:25966872_25966873insG uc002rgs.2 - 12 2554_2555 c.2333_2334insC c.(2332-2334)CCAfs p.P778fs ASXL2_uc002rgt.1_Frame_Shift_Ins_p.P518fs NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGAGGCACTGGGGGGGTTTG 0.554 NA 7 135 --- --- --- --- NA NA NA NA NA TTN 7273 broad.mit.edu 37 2 179535845 179535845 + Frame_Shift_Del DEL A A - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:179535845delA uc010zfg.1 - 151 31601 c.31377delT c.(31375-31377)GTTfs p.V10459fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V7120fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11386 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCGAGGAACAACTTTAGTGG 0.353 NA 48 87 --- --- --- --- NA NA NA NA NA KIAA1486 57624 broad.mit.edu 37 2 226447378 226447379 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:226447378_226447379insC uc002voe.2 + 4 1420_1421 c.1245_1246insC c.(1243-1248)CCACCCfs p.P415fs KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Frame_Shift_Ins_p.P185fs NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 415_416 Pro-rich. ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CGTCGCCCCCACCCCCGTCTAC 0.678 NA 2 4 --- --- --- --- NA NA NA NA NA SH3BGR 6450 broad.mit.edu 37 21 40834329 40834330 + Frame_Shift_Ins INS - - T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr21:40834329_40834330insT uc002yya.2 + 2 317_318 c.263_264insT c.(262-264)GGTfs p.G88fs SH3BGR_uc002yxz.2_5'UTR NM_007341 NP_031367 P55822 SH3BG_HUMAN SH3-binding domain and glutamic acid-rich 88 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity 0 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GAAGTAGTGGGTTTTTTGGAAG 0.342 NA 7 191 --- --- --- --- NA NA NA NA NA SERPIND1 3053 broad.mit.edu 37 22 21138419 21138420 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr22:21138419_21138420insG uc002ztb.1 + 3 1116_1117 c.1049_1050insG c.(1048-1050)GTGfs p.V350fs PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Frame_Shift_Ins_p.V378fs NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATCA 0.54 NA OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 401 --- --- --- --- NA NA NA NA NA UBA7 7318 broad.mit.edu 37 3 49846857 49846860 + Frame_Shift_Del DEL TGTT TGTT - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 TGTT TGTT - - TGTT TGTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:49846857_49846860delTGTT uc003cxr.2 - 17 2297_2300 c.2126_2129delAACA c.(2125-2130)AAACAGfs p.K709fs NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 709_710 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTGGGGACACTGTTTGGGACCTGA 0.564 NA 7 45 --- --- --- --- NA NA NA NA NA PFN2 5217 broad.mit.edu 37 3 149684345 149684346 + Frame_Shift_Ins INS - - GACA TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:149684345_149684346insGACA uc003ext.1 - 3 451_452 c.353_354insTGTC c.(352-354)GGGfs p.G118fs PFN2_uc003exs.1_Intron|PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron NM_053024 NP_444252 P35080 PROF2_HUMAN profilin 2 isoform a 118 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTCCATGGACCCCTTCTTTTCC 0.396 NA 18 206 --- --- --- --- NA NA NA NA NA APBB2 323 broad.mit.edu 37 4 41015705 41015706 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr4:41015705_41015706insG uc003gvl.2 - 6 1359_1360 c.729_730insC c.(727-732)ACCGACfs p.T243fs APBB2_uc003gvm.2_Frame_Shift_Ins_p.T243fs|APBB2_uc003gvn.2_Frame_Shift_Ins_p.T243fs|APBB2_uc011byt.1_Frame_Shift_Ins_p.T226fs NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 243_244 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 AGTGCACAGTCGGTTTTGGCCC 0.579 Ovarian(3;20 75 16686 49997) NA 9 1229 --- --- --- --- NA NA NA NA NA FYB 2533 broad.mit.edu 37 5 39203039 39203040 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:39203039_39203040insC uc003jls.2 - 1 90_91 c.23_24insG c.(22-24)GGCfs p.G8fs FYB_uc003jlt.2_Frame_Shift_Ins_p.G8fs|FYB_uc003jlu.2_Frame_Shift_Ins_p.G8fs|FYB_uc011cpl.1_Frame_Shift_Ins_p.G18fs NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 8 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CTGTCGGGTTGCCCCCCGTGTT 0.446 NA 7 326 --- --- --- --- NA NA NA NA NA NCR3 259197 broad.mit.edu 37 6 31557857 31557858 + Frame_Shift_Del DEL CA CA - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:31557857_31557858delCA uc003nuv.2 - 2 353_354 c.89_90delTG c.(88-90)CTGfs p.L30fs NCR3_uc003nuw.2_Frame_Shift_Del_p.L30fs|NCR3_uc003nux.1_Frame_Shift_Del_p.L30fs NM_147130 NP_667341 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 30 Ig-like.|Extracellular (Potential). cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity ovary(1)|skin(1) 2 AGGATCCTTCCAGGGTACGAAT 0.579 NA 50 246 --- --- --- --- NA NA NA NA NA ALDH8A1 64577 broad.mit.edu 37 6 135253995 135253996 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:135253995_135253996insC uc003qew.2 - 5 820_821 c.767_768insG c.(766-768)GGCfs p.G256fs ALDH8A1_uc003qex.2_Frame_Shift_Ins_p.G256fs|ALDH8A1_uc010kgh.2_Frame_Shift_Ins_p.G88fs|ALDH8A1_uc011ecx.1_Frame_Shift_Ins_p.G206fs NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 256 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CAGGATTCTTGCCCCCCAGCTC 0.619 NA 7 247 --- --- --- --- NA NA NA NA NA NOX3 50508 broad.mit.edu 37 6 155750039 155750040 + Frame_Shift_Ins INS - - G rs79326507 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:155750039_155750040insG uc003qqm.2 - 9 1136_1137 c.1033_1034insC c.(1033-1035)CAGfs p.Q345fs NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 345 Extracellular (Potential).|FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AAAGTCCTCCTGGGGGGCAGAG 0.614 NA 7 286 --- --- --- --- NA NA NA NA NA