Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values UBE4B 10277 broad.mit.edu 37 1 10239484 10239484 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:10239484G>A uc001aqs.3 + 27 4424 c.3711G>A c.(3709-3711)ATG>ATA p.M1237I UBE4B_uc001aqr.3_Missense_Mutation_p.M1108I|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.M692I|UBE4B_uc001aqu.2_Missense_Mutation_p.M118I NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 1237 U-box. apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) ACCCTCTGATGGACACCCTCA 0.552 VPS13D 55187 broad.mit.edu 37 1 12337490 12337490 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:12337490G>A uc001atv.2 + 19 3986 c.3845G>A c.(3844-3846)TGT>TAT p.C1282Y VPS13D_uc001atw.2_Missense_Mutation_p.C1282Y|VPS13D_uc001atx.2_Missense_Mutation_p.C470Y NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1282 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAACAGGAGTGTTTTCTCAAC 0.388 SPEN 23013 broad.mit.edu 37 1 16254749 16254749 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:16254749C>T uc001axk.1 + 11 2218 c.2014C>T c.(2014-2016)CGA>TGA p.R672* SPEN_uc010obp.1_Nonsense_Mutation_p.R631* NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 672 Arg-rich.|Tyr-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTATGAATCACGATACTACGA 0.438 UBR4 23352 broad.mit.edu 37 1 19448467 19448467 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:19448467G>A uc001bbi.2 - 67 9860 c.9856C>T c.(9856-9858)CGA>TGA p.R3286* UBR4_uc001bbk.1_Nonsense_Mutation_p.R933* NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3286 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGATGGTTCGCTGGGCGGCA 0.418 UBR4 23352 broad.mit.edu 37 1 19499975 19499975 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:19499975C>T uc001bbi.2 - 23 3127 c.3123G>A c.(3121-3123)TGG>TGA p.W1041* UBR4_uc001bbm.1_Nonsense_Mutation_p.W252* NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1041 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCCGAGAAGACCATCGCAGAG 0.453 KIAA0754 643314 broad.mit.edu 37 1 39879387 39879387 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:39879387G>A uc009vvt.1 + 1 4212 c.3450G>A c.(3448-3450)GTG>GTA p.V1150V MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 1014 11.|Ala-rich. 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTCCTGCAGTGCCCACCCCAG 0.697 BSND 7809 broad.mit.edu 37 1 55464928 55464928 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:55464928G>A uc001cye.2 + 1 312 c.69G>A c.(67-69)ACG>ACA p.T23T NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 23 Helical; (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 CCCTCGGTACGTTCCTCATGA 0.617 SGIP1 84251 broad.mit.edu 37 1 67145427 67145427 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:67145427T>C uc001dcr.2 + 14 1023 c.806T>C c.(805-807)ATT>ACT p.I269T SGIP1_uc010opd.1_Missense_Mutation_p.I36T|SGIP1_uc001dcs.2_Missense_Mutation_p.I36T|SGIP1_uc001dct.2_Missense_Mutation_p.I36T|uc010ope.1_5'Flank|SGIP1_uc009wat.2_Missense_Mutation_p.I36T NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 269 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CCCTTAACAATTGGACCAGGT 0.473 GBP6 163351 broad.mit.edu 37 1 89848368 89848368 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:89848368A>C uc001dnf.2 + 8 1572 c.1298A>C c.(1297-1299)AAG>ACG p.K433T GBP6_uc010ost.1_Missense_Mutation_p.K303T NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 433 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GGAGGGCACAAGCTCTACATG 0.443 HFM1 164045 broad.mit.edu 37 1 91817190 91817190 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:91817190G>C uc001doa.3 - 17 2088 c.1988C>G c.(1987-1989)ACA>AGA p.T663R HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Missense_Mutation_p.T342R|HFM1_uc010osv.1_Missense_Mutation_p.T347R NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 663 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TGCAGTAGCTGTAGTGTCAAA 0.368 COL11A1 1301 broad.mit.edu 37 1 103427470 103427470 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:103427470T>C uc001dul.2 - 41 3438 c.3120A>G c.(3118-3120)GCA>GCG p.A1040A COL11A1_uc001duk.2_Silent_p.A236A|COL11A1_uc001dum.2_Silent_p.A1052A|COL11A1_uc001dun.2_Silent_p.A1001A|COL11A1_uc009weh.2_Silent_p.A924A NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1040 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCAGTCCAGGTGCACCCTGGG 0.398 SV2A 9900 broad.mit.edu 37 1 149883495 149883495 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:149883495G>T uc001etg.2 - 3 1151 c.660C>A c.(658-660)TTC>TTA p.F220L SV2A_uc001eth.2_Missense_Mutation_p.F220L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 220 Helical; (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTCCCCAGAGGAAGGCTCCCA 0.582 LCE1B 353132 broad.mit.edu 37 1 152785212 152785212 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:152785212G>A uc001faq.2 + 1 766 c.290G>A c.(289-291)AGC>AAC p.S97N NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 97 Gly-rich. keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGCTGCTGCAGCCAGCCCTCC 0.647 TDRD10 126668 broad.mit.edu 37 1 154514512 154514512 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:154514512G>A uc009wow.2 + 7 1220 c.382G>A c.(382-384)GCT>ACT p.A128T TDRD10_uc001ffd.2_Missense_Mutation_p.A128T|TDRD10_uc001ffe.2_Missense_Mutation_p.A49T NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 128 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GTTGGAGAAGGCTTCTGGTGA 0.498 LRRN2 10446 broad.mit.edu 37 1 204588977 204588977 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:204588977G>A uc001hbe.1 - 3 532 c.144C>T c.(142-144)CGC>CGT p.R48R MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.R48R|LRRN2_uc009xbf.1_Silent_p.R48R|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 48 Extracellular (Potential).|LRRNT. cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGGTAGCCTCGCGGTAGGACG 0.657 PTPN14 5784 broad.mit.edu 37 1 214576291 214576291 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:214576291C>T uc001hkk.1 - 6 787 c.516G>A c.(514-516)TTG>TTA p.L172L PTPN14_uc010pty.1_Silent_p.L73L NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 172 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CTTCCAGGGCCAAATCCTATA 0.502 LBR 3930 broad.mit.edu 37 1 225599126 225599126 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:225599126A>G uc001hoy.2 - 9 1244 c.1101T>C c.(1099-1101)GAT>GAC p.D367D LBR_uc001hoz.2_Silent_p.D367D|LBR_uc001hpa.1_Silent_p.D367D NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 367 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) CAATGAAGAAATCATAGACAG 0.448 OBSCN 84033 broad.mit.edu 37 1 228437876 228437876 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:228437876C>T uc009xez.1 + 14 4288 c.4244C>T c.(4243-4245)GCG>GTG p.A1415V OBSCN_uc001hsn.2_Missense_Mutation_p.A1415V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1415 Ig-like 14. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCATGCCAGGCGGACACCGGG 0.647 C1orf101 257044 broad.mit.edu 37 1 244662322 244662322 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:244662322T>C uc001iam.2 + 7 429 c.370T>C c.(370-372)TAT>CAT p.Y124H C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.Y124H|C1orf101_uc010pym.1_Intron|C1orf101_uc010pyn.1_Intron NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 124 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TGTGTGGGCATATGATCCAGA 0.343 AKR1C1 1645 broad.mit.edu 37 10 5008166 5008166 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:5008166A>G uc001iho.2 + 7 986 c.145A>G c.(145-147)ATT>GTT p.I49V AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Missense_Mutation_p.I49V|AKR1C1_uc009xhx.2_Missense_Mutation_p.I49V|AKR1C1_uc001ihq.2_Missense_Mutation_p.I49V NM_001353 NP_001344 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 49 bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process cytosol 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ovary(2) 2 NADH(DB00157) CTTCCGCCATATTGATTCTGC 0.433 KIAA1217 56243 broad.mit.edu 37 10 24832186 24832186 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:24832186C>T uc001iru.3 + 19 4390 c.3987C>T c.(3985-3987)AGC>AGT p.S1329S KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.S1012S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.S165S NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1329 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CAGAATCAAGCGTGCATGATT 0.433 GAD2 2572 broad.mit.edu 37 10 26506781 26506781 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:26506781C>T uc001isp.2 + 3 650 c.147C>T c.(145-147)TAC>TAT p.Y49Y GAD2_uc009xkr.2_Silent_p.Y49Y|GAD2_uc001isq.2_Silent_p.Y49Y NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 49 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CCCTGCTCTACGGAGACGCCG 0.642 OGDHL 55753 broad.mit.edu 37 10 50950980 50950980 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:50950980G>A uc001jie.2 - 15 2048 c.1906C>T c.(1906-1908)CGG>TGG p.R636W OGDHL_uc009xog.2_Missense_Mutation_p.R663W|OGDHL_uc010qgt.1_Missense_Mutation_p.R579W|OGDHL_uc010qgu.1_Missense_Mutation_p.R427W|OGDHL_uc009xoh.2_Missense_Mutation_p.R427W NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 636 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TCCACCGTCCGGTTCTTGGTC 0.662 PCDH15 65217 broad.mit.edu 37 10 55571328 55571328 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:55571328A>C uc010qhu.1 - 34 4820 c.4425T>G c.(4423-4425)ATT>ATG p.I1475M PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron NM_001142770 NP_001136242 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TAACTGTAATAATCTTGTCCA 0.254 HNSCC(58;0.16) KIAA0913 23053 broad.mit.edu 37 10 75557209 75557209 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:75557209C>T uc009xrl.2 + 18 3525 c.3493C>T c.(3493-3495)CGA>TGA p.R1165* KIAA0913_uc001jve.2_Nonsense_Mutation_p.R1170*|KIAA0913_uc001jvf.2_Nonsense_Mutation_p.R1165*|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Nonsense_Mutation_p.R600*|KIAA0913_uc010qkr.1_Nonsense_Mutation_p.R588*|KIAA0913_uc001jvj.2_Nonsense_Mutation_p.R588*|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1165 Ser-rich. R -> Q (in Ref. 4; BAB14664). zinc ion binding breast(1) 1 Prostate(51;0.0112) GAGACCACTTCGAGGGGGCTG 0.592 SAMD8 142891 broad.mit.edu 37 10 76928353 76928353 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:76928353C>T uc001jwx.1 + 4 832 c.729C>T c.(727-729)CGC>CGT p.R243R SAMD8_uc001jwy.1_Silent_p.R243R NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 243 Helical; (Potential). sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCTTGCTTCGCTGCTTTACCA 0.448 VDAC2 7417 broad.mit.edu 37 10 76970891 76970891 + Splice_Site SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:76970891G>T uc001jwz.2 + 2 135 c.-24_splice c.e2-1 VDAC2_uc010qld.1_Splice_Site|VDAC2_uc001jxa.2_Splice_Site|VDAC2_uc010qle.1_Splice_Site NM_003375 NP_003366 P45880 VDAC2_HUMAN voltage-dependent anion channel 2 mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) CCCTCCCGCAGATTCCCCTCT 0.672 PTEN 5728 broad.mit.edu 37 10 89624242 89624242 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:89624242A>G uc001kfb.2 + 2 1047 c.16A>G c.(16-18)AAA>GAA p.K6E KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 6 activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(13)|p.0?(12)|p.K6fs*4(10)|p.K6I(1)|p.K6N(1)|p.K6R(1)|p.A3fs*14(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGCCATCATCAAAGAGATCGT 0.488 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PTEN 5728 broad.mit.edu 37 10 89624286 89624286 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:89624286A>G uc001kfb.2 + 2 1091 c.60A>G c.(58-60)GGA>GGG p.G20G KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 20 Phosphatase tensin-type. G -> E (reduced phosphatase activity towards Ins(1,3,4,5)P4; retains phosphatase activity towards PtdIns(3,4,5)P3). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(13)|p.0?(12)|p.F21fs*3(1)|p.G20*(1)|p.Y16fs*21(1)|p.R14_D22del(1)|p.G20E(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAGAGGATGGATTCGACTTAG 0.468 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PTEN 5728 broad.mit.edu 37 10 89624297 89624297 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:89624297A>T uc001kfb.2 + 2 1102 c.71A>T c.(70-72)GAC>GTC p.D24V KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 24 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(13)|p.0?(12)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.D24fs*19(2)|p.D24Y(2)|p.D24fs*20(2)|p.D24_L25del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTCGACTTAGACTTGACCTGT 0.463 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) GBF1 8729 broad.mit.edu 37 10 104140096 104140096 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:104140096C>T uc001kux.1 + 37 5206 c.4966C>T c.(4966-4968)CAC>TAC p.H1656Y GBF1_uc001kuy.1_Missense_Mutation_p.H1652Y|GBF1_uc001kuz.1_Missense_Mutation_p.H1653Y NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1656 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CAAGTACATGCACGCAGGCTC 0.567 MUC5B 727897 broad.mit.edu 37 11 1275470 1275470 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:1275470G>A uc009ycr.1 + 55 16497 c.16371G>A c.(16369-16371)ACG>ACA p.T5457T MUC5B_uc001ltb.2_Silent_p.T5125T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5122 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTACTGCACGGCCTCTGCCA 0.597 TRPM5 29850 broad.mit.edu 37 11 2435376 2435376 + Missense_Mutation SNP C C T rs140559697 byFrequency TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:2435376C>T uc001lwm.3 - 12 1814 c.1805G>A c.(1804-1806)CGG>CAG p.R602Q TRPM5_uc010qxl.1_Missense_Mutation_p.R602Q|TRPM5_uc009ydn.2_Missense_Mutation_p.R604Q NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 602 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GCAGCGGTTCCGGCGCACCAG 0.677 ST5 6764 broad.mit.edu 37 11 8728732 8728732 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:8728732G>A uc001mgt.2 - 13 2657 c.2471C>T c.(2470-2472)GCA>GTA p.A824V ST5_uc009yfr.2_Missense_Mutation_p.A404V|ST5_uc001mgu.2_Missense_Mutation_p.A404V|ST5_uc001mgv.2_Missense_Mutation_p.A824V|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.A337V|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 824 DENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) ATAGACCAATGCAGCGGAGAT 0.602 MICAL2 9645 broad.mit.edu 37 11 12231128 12231128 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:12231128G>A uc001mjz.2 + 6 962 c.674G>A c.(673-675)CGC>CAC p.R225H MICAL2_uc010rch.1_Missense_Mutation_p.R225H|MICAL2_uc001mka.2_Missense_Mutation_p.R225H|MICAL2_uc010rci.1_Missense_Mutation_p.R225H|MICAL2_uc001mkb.2_Missense_Mutation_p.R225H|MICAL2_uc001mkc.2_Missense_Mutation_p.R225H|MICAL2_uc001mkd.2_Missense_Mutation_p.R54H NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 225 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GCCGATGGCCGCAGGAACACC 0.527 MICAL2 9645 broad.mit.edu 37 11 12244261 12244261 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:12244261C>G uc001mjz.2 + 11 1708 c.1420C>G c.(1420-1422)CTC>GTC p.L474V MICAL2_uc010rch.1_Missense_Mutation_p.L474V|MICAL2_uc001mka.2_Missense_Mutation_p.L474V|MICAL2_uc010rci.1_Missense_Mutation_p.L474V|MICAL2_uc001mkb.2_Missense_Mutation_p.L474V|MICAL2_uc001mkc.2_Missense_Mutation_p.L474V|MICAL2_uc001mkd.2_Missense_Mutation_p.L303V|MICAL2_uc010rcj.1_5'UTR NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 474 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GTACCCAAACCTCAACTCACA 0.557 PIK3C2A 5286 broad.mit.edu 37 11 17156677 17156677 + Silent SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:17156677A>T uc001mmq.3 - 9 1944 c.1878T>A c.(1876-1878)ACT>ACA p.T626T PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.T246T|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Silent_p.T626T NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 626 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) AACTCCTGCTAGTGTCTTCTC 0.328 BBOX1 8424 broad.mit.edu 37 11 27114876 27114876 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:27114876G>T uc001mre.1 + 5 864 c.496G>T c.(496-498)GGG>TGG p.G166W BBOX1_uc009yih.1_Missense_Mutation_p.G166W|BBOX1_uc001mrg.1_Missense_Mutation_p.G166W NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 166 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) TTCAAAACTTGGGAAAAGGAT 0.423 LGR4 55366 broad.mit.edu 37 11 27434338 27434338 + Missense_Mutation SNP C C G rs144168526 byFrequency TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:27434338C>G uc001mrj.3 - 2 740 c.255G>C c.(253-255)GAG>GAC p.E85D LGR4_uc001mrk.3_Intron NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 85 LRR 2.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 ATACTTACAGCTCTTCTAGAA 0.333 MADD 8567 broad.mit.edu 37 11 47303141 47303141 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:47303141A>T uc001ner.1 + 8 1497 c.1306A>T c.(1306-1308)AGT>TGT p.S436C MADD_uc001neq.2_Missense_Mutation_p.S436C|MADD_uc001nev.1_Missense_Mutation_p.S436C|MADD_uc001nes.1_Missense_Mutation_p.S436C|MADD_uc001net.1_Missense_Mutation_p.S436C|MADD_uc009yln.1_Missense_Mutation_p.S436C|MADD_uc001neu.1_Missense_Mutation_p.S436C|MADD_uc001nex.2_Missense_Mutation_p.S436C|MADD_uc001nez.2_Missense_Mutation_p.S436C|MADD_uc001new.2_Missense_Mutation_p.S436C NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 436 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GGCCAGCATGAGTCTCAACAC 0.512 SLC22A8 9376 broad.mit.edu 37 11 62762176 62762176 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:62762176C>T uc001nwo.2 - 8 1190 c.1054G>A c.(1054-1056)GGA>AGA p.G352R SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.G352R|SLC22A8_uc009yom.2_Missense_Mutation_p.G229R|SLC22A8_uc010rmm.1_Missense_Mutation_p.G261R|SLC22A8_uc009yon.2_Missense_Mutation_p.G352R NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 352 Extracellular (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 AGGTTGACTCCAAATTCTTCC 0.527 CDC42BPG 55561 broad.mit.edu 37 11 64603908 64603908 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:64603908T>C uc001obs.3 - 12 1479 c.1479A>G c.(1477-1479)CGA>CGG p.R493R NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 493 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 cccGGTGAAGTCGGTCAAGCT 0.443 OREG0004017 type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay MRPL49 740 broad.mit.edu 37 11 64889890 64889890 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:64889890G>A uc001oda.1 + 1 163 c.72G>A c.(70-72)CGG>CGA p.R24R FAU_uc001ocx.2_5'Flank|FAU_uc001ocy.1_5'Flank|MRPL49_uc001ocz.1_RNA NM_004927 NP_004918 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 24 translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 GCGGGCTACGGCTGTTGGTGA 0.592 ODZ4 26011 broad.mit.edu 37 11 78413244 78413244 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:78413244C>T uc001ozl.3 - 28 4877 c.4414G>A c.(4414-4416)GCT>ACT p.A1472T ODZ4_uc009yvb.1_Missense_Mutation_p.A56T NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1472 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 ACAGCCAAAGCGGTGGCTGAC 0.557 FAT3 120114 broad.mit.edu 37 11 92086032 92086032 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:92086032C>A uc001pdj.3 + 1 771 c.754C>A c.(754-756)CTT>ATT p.L252I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 252 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TACTGCAAAGCTTTATGTTCA 0.403 TCGA Ovarian(4;0.039) FAT3 120114 broad.mit.edu 37 11 92088462 92088462 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:92088462G>A uc001pdj.3 + 1 3201 c.3184G>A c.(3184-3186)GTG>ATG p.V1062M NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1062 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGAACAAGCGTGCTGCAGGT 0.498 TCGA Ovarian(4;0.039) KBTBD3 143879 broad.mit.edu 37 11 105924893 105924893 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr11:105924893G>C uc001pja.2 - 4 1163 c.523C>G c.(523-525)CAC>GAC p.H175D KBTBD3_uc001pjb.2_Missense_Mutation_p.H175D|KBTBD3_uc009yxm.2_Missense_Mutation_p.H96D NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 171 BACK. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TGTACAAAGTGTAATGCATGA 0.289 TMTC1 83857 broad.mit.edu 37 12 29757182 29757182 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:29757182C>T uc001rjb.2 - 7 1329 c.855G>A c.(853-855)CCG>CCA p.P285P TMTC1_uc001riz.2_Silent_p.P42P|TMTC1_uc001rja.2_Silent_p.P129P|TMTC1_uc001rjc.1_Silent_p.P347P NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 393 Helical; (Potential). integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CTGGAATGAACGGGAACACCA 0.468 SYT10 341359 broad.mit.edu 37 12 33538177 33538177 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:33538177G>A uc001rll.1 - 4 1424 c.1127C>T c.(1126-1128)ACG>ATG p.T376M SYT10_uc009zju.1_Missense_Mutation_p.T186M NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 376 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ACGCCCAGCCGTCGGTAGGTA 0.443 KIF21A 55605 broad.mit.edu 37 12 39726475 39726475 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:39726475A>C uc001rly.2 - 20 2920 c.2774T>G c.(2773-2775)CTC>CGC p.L925R KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.L242R|KIF21A_uc001rlx.2_Missense_Mutation_p.L912R|KIF21A_uc001rlz.2_Missense_Mutation_p.L889R|KIF21A_uc010skl.1_Missense_Mutation_p.L912R NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 925 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) GCGCTCAAGGAGCTGCCACTT 0.428 SENP1 29843 broad.mit.edu 37 12 48441861 48441861 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:48441861A>G uc001rqx.2 - 15 2060 c.1614T>C c.(1612-1614)GTT>GTC p.V538V SENP1_uc001rqw.2_Silent_p.V538V|SENP1_uc001rqy.2_Silent_p.V339V|SENP1_uc001rqz.2_Silent_p.V339V|SENP1_uc009zkx.2_Silent_p.V538V NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 538 Protease. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TAAAGTCCACAACCTGAGAAT 0.398 ATP5B 506 broad.mit.edu 37 12 57037231 57037231 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:57037231T>A uc001slr.2 - 5 853 c.748A>T c.(748-750)ATG>TTG p.M250L NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 250 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 GATTCAATCATTTCATGGTAT 0.433 GRIP1 23426 broad.mit.edu 37 12 66788079 66788079 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:66788079C>T uc001stk.2 - 16 2123 c.1882G>A c.(1882-1884)GGG>AGG p.G628R GRIP1_uc010sta.1_Missense_Mutation_p.G572R|GRIP1_uc001stj.2_Missense_Mutation_p.G410R|GRIP1_uc001stl.1_Missense_Mutation_p.G520R|GRIP1_uc001stm.2_Missense_Mutation_p.G628R NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 680 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AGGGGCCCCCCGTAGCGTTTA 0.408 PTPRB 5787 broad.mit.edu 37 12 70960283 70960283 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:70960283T>A uc001swb.3 - 13 3212 c.3182A>T c.(3181-3183)TAC>TTC p.Y1061F PTPRB_uc010sto.1_Intron|PTPRB_uc010stp.1_Missense_Mutation_p.Y971F|PTPRB_uc001swc.3_Missense_Mutation_p.Y1279F|PTPRB_uc001swa.3_Missense_Mutation_p.Y1191F|PTPRB_uc001swd.3_Missense_Mutation_p.Y1278F|PTPRB_uc009zrr.1_Missense_Mutation_p.Y1158F NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1061 Fibronectin type-III 12.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTGTATCTTGTATTTCTTGCC 0.443 LRRIQ1 84125 broad.mit.edu 37 12 85441135 85441135 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:85441135C>T uc001tac.2 + 6 676 c.565C>T c.(565-567)CTC>TTC p.L189F LRRIQ1_uc001tab.1_Missense_Mutation_p.L189F|LRRIQ1_uc001taa.1_Missense_Mutation_p.L189F|LRRIQ1_uc001tad.2_Missense_Mutation_p.L97F NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 189 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GAAACAAACTCTCAAAGCTCA 0.328 TRPV4 59341 broad.mit.edu 37 12 110221548 110221548 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:110221548G>A uc001tpj.1 - 15 2589 c.2494C>T c.(2494-2496)CTG>TTG p.L832L TRPV4_uc001tpg.1_Silent_p.L798L|TRPV4_uc001tph.1_Silent_p.L785L|TRPV4_uc001tpi.1_Silent_p.L725L|TRPV4_uc001tpk.1_Silent_p.L832L|TRPV4_uc001tpl.1_Silent_p.L772L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 832 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TTCTTGTTCAGTTCCACCACG 0.587 CUX2 23316 broad.mit.edu 37 12 111745053 111745053 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:111745053G>A uc001tsa.1 + 12 1254 c.1101G>A c.(1099-1101)ACG>ACA p.T367T NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 367 Potential. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 AAATTAAAACGGAGCTGAGGT 0.527 DTX1 1840 broad.mit.edu 37 12 113496170 113496170 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:113496170G>C uc001tuk.1 + 1 509 c.173G>C c.(172-174)GGT>GCT p.G58A NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 58 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GACGCTCGCGGTTCCGTGGTC 0.637 DTX1 1840 broad.mit.edu 37 12 113496241 113496241 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:113496241T>C uc001tuk.1 + 1 580 c.244T>C c.(244-246)TTT>CTT p.F82L NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 82 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 CATGCACCAGTTTCGCCAGGA 0.607 TBX5 6910 broad.mit.edu 37 12 114832618 114832618 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:114832618T>G uc001tvo.2 - 6 1086 c.591A>C c.(589-591)AAA>AAC p.K197N TBX5_uc001tvp.2_Missense_Mutation_p.K197N|TBX5_uc001tvq.2_Missense_Mutation_p.K147N|TBX5_uc010syv.1_Missense_Mutation_p.K197N NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 197 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) ACGCTGTATTTTTTGAGCCAA 0.403 CCDC64 92558 broad.mit.edu 37 12 120530908 120530908 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:120530908G>A uc001txl.1 + 9 1690 c.1665G>A c.(1663-1665)GGG>GGA p.G555G CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Silent_p.G226G|CCDC64_uc010szf.1_Silent_p.G252G NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 555 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGGGCGGGGGGATGAGCCCA 0.592 FZD10 11211 broad.mit.edu 37 12 130648561 130648561 + Silent SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:130648561C>A uc001uii.2 + 1 1530 c.1074C>A c.(1072-1074)GCC>GCA p.A358A uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 358 Helical; Name=4; (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) ACCTGGCAGCCTGGGCCATCC 0.662 RIMBP2 23504 broad.mit.edu 37 12 130923044 130923044 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr12:130923044G>A uc001uil.2 - 9 1635 c.1471C>T c.(1471-1473)CAA>TAA p.Q491* RIMBP2_uc001uim.2_Nonsense_Mutation_p.Q399*|RIMBP2_uc001uin.1_Nonsense_Mutation_p.Q150* NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 491 Fibronectin type-III 3. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GTAACATCTTGTGGGGGTGCT 0.667 FRY 10129 broad.mit.edu 37 13 32868606 32868606 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:32868606C>T uc001utx.2 + 60 9178 c.8682C>T c.(8680-8682)TCC>TCT p.S2894S FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Silent_p.S425S|FRY_uc010tdx.1_Silent_p.S264S NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2894 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCGCGTGGTCCGAGCCCACCT 0.547 SMAD9 4093 broad.mit.edu 37 13 37439852 37439852 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:37439852C>T uc001uvw.2 - 5 1168 c.825G>A c.(823-825)TCG>TCA p.S275S SMAD9_uc001uvx.2_Silent_p.S238S|SMAD9_uc010tep.1_Silent_p.S68S NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 275 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) AGTAGGCGACCGAGCACCAGT 0.507 CAB39L 81617 broad.mit.edu 37 13 49906110 49906110 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:49906110G>A uc001vcw.2 - 8 1305 c.807C>T c.(805-807)ATC>ATT p.I269I CAB39L_uc001vcx.2_Silent_p.I269I|CAB39L_uc010adf.2_Silent_p.I266I NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 269 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) CTTCAAACTGGATGTTGGGAC 0.418 C13orf1 57213 broad.mit.edu 37 13 50495695 50495695 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:50495695C>T uc001vdl.2 - 4 674 c.412G>A c.(412-414)GAA>AAA p.E138K C13orf1_uc001vdm.2_Missense_Mutation_p.E99K|C13orf1_uc010tgm.1_RNA|C13orf1_uc010adj.2_Missense_Mutation_p.E138K NM_020456 NP_065189 Q5W111 SPRY7_HUMAN chromosome 13 open reading frame 1 isoform 1 138 B30.2/SPRY. 0 Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117) GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208) ACATTTAATTCGACATGGTCA 0.368 PCDH20 64881 broad.mit.edu 37 13 61985915 61985915 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:61985915C>T uc001vid.3 - 2 2681 c.2317G>A c.(2317-2319)GAC>AAC p.D773N PCDH20_uc010thj.1_Missense_Mutation_p.D773N NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 746 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ATGCCTGTGTCTTTGTCGACA 0.453 KLF12 11278 broad.mit.edu 37 13 74420392 74420392 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:74420392G>A uc001vjf.2 - 4 464 c.242C>T c.(241-243)CCA>CTA p.P81L KLF12_uc010aeq.2_Missense_Mutation_p.P81L|KLF12_uc001vjg.3_Missense_Mutation_p.P81L NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 81 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) CAAGTCCACTGGCTCAGTTTG 0.498 SLITRK1 114798 broad.mit.edu 37 13 84454002 84454002 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:84454002C>T uc001vlk.2 - 1 2527 c.1641G>A c.(1639-1641)TTG>TTA p.L547L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 547 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTTCGGAACCCAAGCGTTCTG 0.532 SLITRK5 26050 broad.mit.edu 37 13 88329436 88329436 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:88329436T>A uc001vln.2 + 2 2012 c.1793T>A c.(1792-1794)TTC>TAC p.F598Y SLITRK5_uc010tic.1_Missense_Mutation_p.F357Y NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 598 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCCAAAAAATTCGCTGAGACC 0.542 FAM155A 728215 broad.mit.edu 37 13 108518853 108518853 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:108518853T>C uc001vql.2 - 1 608 c.92A>G c.(91-93)GAT>GGT p.D31G NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 31 integral to membrane binding skin(1) 1 CCTCTCGGAATCGATGAACGG 0.527 ATP11A 23250 broad.mit.edu 37 13 113470426 113470426 + Silent SNP C C T rs140428971 TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr13:113470426C>T uc001vsi.3 + 6 559 c.471C>T c.(469-471)GAC>GAT p.D157D ATP11A_uc001vsj.3_Silent_p.D157D|ATP11A_uc001vsm.1_Silent_p.D33D NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 157 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TTAAGGAGGACGAGACCTTTC 0.557 NFATC4 4776 broad.mit.edu 37 14 24845265 24845265 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr14:24845265C>T uc001wpc.2 + 8 2335 c.2014C>T c.(2014-2016)CGG>TGG p.R672W NFATC4_uc010tok.1_Missense_Mutation_p.R735W|NFATC4_uc010tol.1_Missense_Mutation_p.R735W|NFATC4_uc010alr.2_Missense_Mutation_p.R735W|NFATC4_uc010tom.1_Missense_Mutation_p.R685W|NFATC4_uc010ton.1_Missense_Mutation_p.R685W|NFATC4_uc010too.1_Missense_Mutation_p.R685W|NFATC4_uc010alt.2_Missense_Mutation_p.R704W|NFATC4_uc010top.1_Missense_Mutation_p.R704W|NFATC4_uc010toq.1_Missense_Mutation_p.R704W|NFATC4_uc010tor.1_Missense_Mutation_p.R672W|NFATC4_uc010tos.1_Missense_Mutation_p.R602W|NFATC4_uc010tot.1_Missense_Mutation_p.R660W|NFATC4_uc010tou.1_Missense_Mutation_p.R602W|NFATC4_uc010tov.1_Missense_Mutation_p.R660W|NFATC4_uc010tow.1_Missense_Mutation_p.R602W|NFATC4_uc010alv.2_Missense_Mutation_p.R660W|NFATC4_uc010tox.1_Missense_Mutation_p.R602W|NFATC4_uc001wpd.2_Missense_Mutation_p.R207W|NFATC4_uc010toy.1_Missense_Mutation_p.R207W|NFATC4_uc010toz.1_Missense_Mutation_p.R207W|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 672 Nuclear localization signal.|IPT/TIG. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) CTCCAATGGGCGGAGGAAACG 0.567 PLEKHH1 57475 broad.mit.edu 37 14 68045912 68045912 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr14:68045912G>A uc001xjl.1 + 21 3053 c.2911G>A c.(2911-2913)GGG>AGG p.G971R PLEKHH1_uc010tsw.1_Missense_Mutation_p.G539R|PLEKHH1_uc001xjn.1_Missense_Mutation_p.G486R|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 971 MyTH4. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCTGCGGACCGGGGAGCGGGA 0.602 ZFYVE1 53349 broad.mit.edu 37 14 73459883 73459883 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr14:73459883G>A uc001xnm.2 - 4 1811 c.1171C>T c.(1171-1173)CGG>TGG p.R391W ZFYVE1_uc010arj.2_Missense_Mutation_p.R391W NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 391 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CCCGGGTGCCGGGGAGAACGG 0.567 BCL11B 64919 broad.mit.edu 37 14 99641074 99641074 + Missense_Mutation SNP G G A rs115625258 by1000genomes TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr14:99641074G>A uc001yga.2 - 4 2366 c.2099C>T c.(2098-2100)GCG>GTG p.A700V BCL11B_uc001ygb.2_Missense_Mutation_p.A629V NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 700 nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CGGGATGAGCGCGGCGGGCGG 0.701 T TLX3 T-ALL YY1 7528 broad.mit.edu 37 14 100728767 100728767 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr14:100728767A>G uc001ygy.1 + 2 1286 c.806A>G c.(805-807)GAC>GGC p.D269G NM_003403 NP_003394 P25490 TYY1_HUMAN YY1 transcription factor 269 Involved in nuclear matrix association. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding 0 Melanoma(154;0.152) CCTGGCATTGACCTCTCAGAT 0.393 AHNAK2 113146 broad.mit.edu 37 14 105412335 105412335 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr14:105412335C>T uc010axc.1 - 7 9573 c.9453G>A c.(9451-9453)CCG>CCA p.P3151P AHNAK2_uc001ypx.2_Silent_p.P3051P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3151 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCGAACGACGGCATCTTGA 0.602 OR4M2 390538 broad.mit.edu 37 15 22368747 22368747 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:22368747C>T uc010tzu.1 + 1 172 c.172C>T c.(172-174)CCT>TCT p.P58S LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTGACCTCTCCTATGTATTT 0.398 TJP1 7082 broad.mit.edu 37 15 30010720 30010720 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:30010720G>A uc001zcr.2 - 21 4101 c.3626C>T c.(3625-3627)TCT>TTT p.S1209F TJP1_uc010azl.2_Missense_Mutation_p.S1197F|TJP1_uc001zcq.2_Missense_Mutation_p.S1133F|TJP1_uc001zcs.2_Missense_Mutation_p.S1129F NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1209 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ACCTGCTCTAGAGGTAAATCC 0.522 PLCB2 5330 broad.mit.edu 37 15 40590080 40590080 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:40590080G>A uc001zld.2 - 12 1537 c.1236C>T c.(1234-1236)GAC>GAT p.D412D PLCB2_uc010bbo.2_Silent_p.D412D|PLCB2_uc010ucm.1_Silent_p.D412D NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 412 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) ATACGCACGAGTCCACATGGT 0.557 MGA 23269 broad.mit.edu 37 15 42003115 42003115 + Nonsense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:42003115T>G uc001zog.1 + 8 2743 c.2652T>G c.(2650-2652)TAT>TAG p.Y884* MGA_uc010ucy.1_Nonsense_Mutation_p.Y884*|MGA_uc010ucz.1_Nonsense_Mutation_p.Y884* NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 884 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTACCTCTTATTCTTTGAAAC 0.418 MAPKBP1 23005 broad.mit.edu 37 15 42111038 42111038 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:42111038G>A uc001zok.3 + 21 2478 c.2192G>A c.(2191-2193)CGC>CAC p.R731H MAPKBP1_uc001zoj.3_Missense_Mutation_p.R725H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R232H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R725H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R564H|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R232H NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 731 WD 12. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TTTGTGTGGCGCCTGAGCTCT 0.592 WDR76 79968 broad.mit.edu 37 15 44120184 44120184 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:44120184C>T uc001zti.1 + 2 105 c.82C>T c.(82-84)CAA>TAA p.Q28* NM_024908 NP_079184 Q9H967 WDR76_HUMAN WD repeat domain 76 28 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TAAAGAAAATCAAAACATCGC 0.358 SIN3A 25942 broad.mit.edu 37 15 75703974 75703974 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:75703974C>T uc002bai.2 - 6 1126 c.867G>A c.(865-867)TCG>TCA p.S289S SIN3A_uc002baj.2_Silent_p.S289S|SIN3A_uc010uml.1_Silent_p.S289S NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 289 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 CCGTTCCCAACGAGATTGTCA 0.522 RLBP1 6017 broad.mit.edu 37 15 89760390 89760390 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:89760390G>A uc002bnl.2 - 5 687 c.307C>T c.(307-309)CGG>TGG p.R103W NM_000326 NP_000317 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 103 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1) 1 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) TTGAACTTCCGTGCGCGGATG 0.672 TRAF7 84231 broad.mit.edu 37 16 2223541 2223541 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr16:2223541G>A uc002cow.2 + 11 1171 c.1072G>A c.(1072-1074)GCA>ACA p.A358T NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 358 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 CCGGCGGGACGCATCCATGTT 0.672 SYT17 51760 broad.mit.edu 37 16 19278368 19278368 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr16:19278368C>T uc002dfw.2 + 8 1726 c.1395C>T c.(1393-1395)CGC>CGT p.R465R SYT17_uc002dfx.2_Silent_p.R404R|SYT17_uc002dfy.2_Silent_p.R461R NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN B/K protein 465 membrane|synaptic vesicle transporter activity ovary(1) 1 AGTGTGACCGCGTGTCTCCTG 0.542 GPR139 124274 broad.mit.edu 37 16 20043163 20043163 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr16:20043163A>T uc002dgu.1 - 2 1118 c.956T>A c.(955-957)TTT>TAT p.F319Y GPR139_uc010vaw.1_Missense_Mutation_p.F226Y NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 319 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 TGTTATGGAAAAGTTATGATT 0.478 CORO1A 11151 broad.mit.edu 37 16 30199729 30199729 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr16:30199729C>A uc002dww.2 + 10 1235 c.1113C>A c.(1111-1113)GAC>GAA p.D371E uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.D371E|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.D265E|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 371 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 CAGGGCCCGACCCTGCCCTCA 0.662 MT1M 4499 broad.mit.edu 37 16 56667308 56667308 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr16:56667308T>A uc002ejn.2 + 2 195 c.85T>A c.(85-87)TGC>AGC p.C29S MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_RNA|uc002ejo.1_5'Flank|uc002ejp.1_5'Flank NM_176870 NP_789846 Q8N339 MT1M_HUMAN metallothionein 1M 29 Beta. Divalent metal cation; cluster B. metal ion binding ovary(1) 1 ATGCACCTCCTGCAAGAAGAG 0.587 SLC38A7 55238 broad.mit.edu 37 16 58706104 58706104 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr16:58706104G>A uc002eod.1 - 9 1320 c.927C>T c.(925-927)GAC>GAT p.D309D SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Silent_p.D220D|SLC38A7_uc002eoe.1_Silent_p.D309D NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 309 amino acid transport|sodium ion transport integral to membrane ovary(1) 1 ACAGGAGCACGTCAGGATCCA 0.612 ANKRD11 29123 broad.mit.edu 37 16 89337295 89337295 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr16:89337295C>T uc002fmx.1 - 12 8197 c.7736G>A c.(7735-7737)CGC>CAC p.R2579H ANKRD11_uc002fmy.1_Missense_Mutation_p.R2579H|uc002fmz.1_RNA NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2579 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GAAACGGTCGCGCACTGACTT 0.597 TNFSF12-TNFSF13 407977 broad.mit.edu 37 17 7463198 7463198 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:7463198G>A uc002ghi.1 + 8 668 c.613G>A c.(613-615)GCC>ACC p.A205T SENP3_uc002ghm.2_5'Flank|TNFSF13_uc002ghj.2_Missense_Mutation_p.A125T|TNFSF13_uc002ghk.2_Missense_Mutation_p.A125T|TNFSF13_uc002ghl.2_Intron|TNFSF13_uc010cmk.2_Missense_Mutation_p.A98T|TNFSF13_uc010vua.1_Missense_Mutation_p.A97T NM_172089 NP_742086 Q8IZK7 Q8IZK7_HUMAN TNFSF12-TNFSF13 protein 205 immune response extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding 0 Prostate(122;0.157) TCCCATTAACGCCACCTCCAA 0.557 OREG0024138 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C T rs121912655 TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:7577556C>T uc002gim.2 - 7 919 c.725G>A c.(724-726)TGC>TAC p.C242Y TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.2_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 242 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). Zinc. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) TMEM97 27346 broad.mit.edu 37 17 26646362 26646362 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:26646362G>C uc002hat.2 + 1 242 c.97G>C c.(97-99)GTG>CTG p.V33L NM_014573 NP_055388 Q5BJF2 TMM97_HUMAN transmembrane protein 97 33 Extracellular (Potential). cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CCTGCAGGCGGTGCTGCCGCG 0.687 SLC13A2 9058 broad.mit.edu 37 17 26817568 26817568 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:26817568G>A uc002hbh.2 + 3 395 c.328G>A c.(328-330)GCC>ACC p.A110T SLC13A2_uc010wal.1_Missense_Mutation_p.A67T|SLC13A2_uc010wam.1_Missense_Mutation_p.A66T|SLC13A2_uc010wan.1_Missense_Mutation_p.A159T|SLC13A2_uc010wao.1_Missense_Mutation_p.A67T|SLC13A2_uc002hbi.2_Missense_Mutation_p.A39T NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 110 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TAAACGCATCGCCCTCCGTGT 0.607 GRN 2896 broad.mit.edu 37 17 42426659 42426659 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:42426659C>T uc002igp.1 + 2 346 c.127C>T c.(127-129)CGT>TGT p.R43C GRN_uc002igq.1_Missense_Mutation_p.R43C|GRN_uc002igr.1_5'Flank NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 43 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CAGCTGCTGCCGTCCCCTTCT 0.637 C17orf82 388407 broad.mit.edu 37 17 59489668 59489668 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:59489668G>A uc002izh.1 + 1 557 c.332G>A c.(331-333)GGT>GAT p.G111D NM_203425 NP_982249 Q86X59 CQ082_HUMAN hypothetical protein LOC388407 111 0 GCCCGGGGCGGTTTTGCACTT 0.667 OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GNA13 10672 broad.mit.edu 37 17 63052588 63052588 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:63052588T>C uc002jfc.2 - 1 333 c.124A>G c.(124-126)AAG>GAG p.K42E GNA13_uc010wqh.1_5'Flank NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 42 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 ACATAGGTCTTTTCCCGAGAC 0.622 GNA13 10672 broad.mit.edu 37 17 63052626 63052626 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:63052626C>T uc002jfc.2 - 1 295 c.86G>A c.(85-87)CGC>CAC p.R29H GNA13_uc010wqh.1_5'Flank NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 29 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 CTTGGACTTGCGTTGCTGCTC 0.597 GRB2 2885 broad.mit.edu 37 17 73389691 73389691 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:73389691A>C uc002jnx.3 - 2 376 c.19T>G c.(19-21)TAT>GAT p.Y7D GRB2_uc002jny.3_Missense_Mutation_p.Y7D NM_002086 NP_002077 P62993 GRB2_HUMAN growth factor receptor-bound protein 2 isoform 7 SH3 1. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity ovary(3) 3 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) TTGAAGTCATATTTGGCGATG 0.562 SLC16A3 9123 broad.mit.edu 37 17 80194605 80194605 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:80194605G>A uc002kea.2 + 3 363 c.224G>A c.(223-225)GGT>GAT p.G75D SLC16A3_uc002kee.2_Missense_Mutation_p.G75D|SLC16A3_uc002keb.2_Missense_Mutation_p.G75D|SLC16A3_uc002kec.2_Missense_Mutation_p.G75D|SLC16A3_uc002ked.2_Missense_Mutation_p.G75D NM_001042422 NP_001035887 O15427 MOT4_HUMAN solute carrier family 16, member 3 75 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity upper_aerodigestive_tract(1)|lung(1) 2 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) CCCTCTCCAGGTCCGCTCTGC 0.682 OREG0024821 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PTPRM 5797 broad.mit.edu 37 18 7926570 7926570 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr18:7926570G>T uc002knn.3 + 5 1055 c.552G>T c.(550-552)AGG>AGT p.R184S PTPRM_uc010dkv.2_Missense_Mutation_p.R184S NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 184 MAM.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) ATGTAGCCAGGACTCCTCACT 0.418 ABHD3 171586 broad.mit.edu 37 18 19283682 19283682 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr18:19283682C>T uc002ktl.2 - 2 329 c.189G>A c.(187-189)GAG>GAA p.E63E ABHD3_uc002ktm.2_Silent_p.E63E|ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Silent_p.E63E NM_138340 NP_612213 Q8WU67 ABHD3_HUMAN alpha/beta hydrolase domain containing protein 63 integral to membrane carboxylesterase activity central_nervous_system(1) 1 GGCTGAAACTCTCACCCCCGG 0.547 RIT2 6014 broad.mit.edu 37 18 40323568 40323568 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr18:40323568G>A uc002lav.2 - 5 717 c.544C>T c.(544-546)CGC>TGC p.R182C RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 182 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 TCCTTCTTGCGAATTTCCCTC 0.413 DOT1L 84444 broad.mit.edu 37 19 2191099 2191099 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:2191099C>T uc002lvb.3 + 5 389 c.353C>T c.(352-354)TCG>TTG p.S118L NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 118 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAACCACTCGGTGACCGAC 0.617 ZNF77 58492 broad.mit.edu 37 19 2934551 2934551 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:2934551A>T uc002lws.3 - 4 705 c.574T>A c.(574-576)TGC>AGC p.C192S NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) GAGTCCTGGCAATTACAGGGT 0.473 CD209 30835 broad.mit.edu 37 19 7809857 7809857 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:7809857C>G uc002mht.2 - 5 937 c.870G>C c.(868-870)CAG>CAC p.Q290H CD209_uc010xju.1_Missense_Mutation_p.Q129H|CD209_uc010dvp.2_Missense_Mutation_p.Q266H|CD209_uc002mhr.2_Missense_Mutation_p.Q266H|CD209_uc002mhs.2_Missense_Mutation_p.Q220H|CD209_uc002mhu.2_Missense_Mutation_p.Q198H|CD209_uc010dvq.2_Missense_Mutation_p.Q290H|CD209_uc002mhq.2_Missense_Mutation_p.Q290H|CD209_uc002mhv.2_Missense_Mutation_p.Q266H|CD209_uc002mhx.2_Missense_Mutation_p.Q246H|CD209_uc002mhw.2_Missense_Mutation_p.Q154H|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 290 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 TTACGACGAGCTGGGCCCCCA 0.582 MYO1F 4542 broad.mit.edu 37 19 8613174 8613174 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:8613174G>C uc002mkg.2 - 11 1243 c.1129C>G c.(1129-1131)CAG>GAG p.Q377E MYO1F_uc002mkh.2_Missense_Mutation_p.P378R NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 377 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 TACTCTTCCTGGGGTTTCTGC 0.607 MUC16 94025 broad.mit.edu 37 19 8995977 8995977 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:8995977C>T uc002mkp.2 - 62 41468 c.41264G>A c.(41263-41265)CGG>CAG p.R13755Q MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R572Q|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13757 Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CACAGAGCTCCGATGAGTGAA 0.537 ZNF700 90592 broad.mit.edu 37 19 12060673 12060673 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:12060673A>T uc002msu.2 + 4 1960 c.1834A>T c.(1834-1836)AGG>TGG p.R612W ZNF700_uc010xme.1_Missense_Mutation_p.R630W|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 612 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGCATGGTAGGACTCACAC 0.473 NOTCH3 4854 broad.mit.edu 37 19 15299139 15299139 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:15299139C>T uc002nan.2 - 9 1475 c.1399G>A c.(1399-1401)GAG>AAG p.E467K NOTCH3_uc002nao.1_Missense_Mutation_p.E467K NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 467 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ATGTCCACCTCGCAATAGGTT 0.587 SCN1B 6324 broad.mit.edu 37 19 35524615 35524615 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:35524615G>C uc002nxp.2 + 3 611 c.420G>C c.(418-420)AAG>AAC p.K140N SCN1B_uc002nxo.1_Missense_Mutation_p.K140N|SCN1B_uc010xsg.1_Splice_Site_p.K70_splice NM_001037 NP_001028 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta 140 Extracellular (Potential).|Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCGTCGTCAAGAAGATCCACA 0.567 MLL4 9757 broad.mit.edu 37 19 36214856 36214856 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:36214856C>T uc010eei.2 + 9 3282 c.3282C>T c.(3280-3282)GAC>GAT p.D1094D NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1094 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATTCGGATGACTCGGAGCCCG 0.592 FCGBP 8857 broad.mit.edu 37 19 40421393 40421393 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:40421393G>A uc002omp.3 - 5 2536 c.2528C>T c.(2527-2529)GCG>GTG p.A843V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 843 Cys-rich. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCGCTCACCCGCCGGGCAGCT 0.687 CEACAM5 1048 broad.mit.edu 37 19 42222079 42222079 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:42222079T>C uc002ork.2 + 6 1391 c.1270T>C c.(1270-1272)TAC>CAC p.Y424H CEACAM5_uc002orj.1_Missense_Mutation_p.Y423H|CEACAM5_uc002orl.2_Missense_Mutation_p.Y424H NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 424 Ig-like 5. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TTCCCCCTCATACACCTATTA 0.542 PLAUR 5329 broad.mit.edu 37 19 44169538 44169538 + Silent SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:44169538C>G uc002oxf.1 - 3 470 c.240G>C c.(238-240)CGG>CGC p.R80R PLAUR_uc002oxd.1_Silent_p.R80R|PLAUR_uc002oxe.1_Silent_p.R75R|PLAUR_uc002oxg.1_Silent_p.R80R NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 80 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) TCAAGCCAGTCCGATAGCTCA 0.527 KIR2DL3 3804 broad.mit.edu 37 19 55250954 55250954 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:55250954G>A uc002qgv.2 + 2 54 c.36G>A c.(34-36)GGG>GGA p.G12G KIR2DL3_uc002qgx.2_Silent_p.G12G|KIR2DL3_uc002qgy.2_Silent_p.G12G|KIR2DL3_uc010erw.1_Silent_p.G12G|KIR2DL1_uc002qgz.1_5'UTR|KIR2DL3_uc002qha.1_5'Flank NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 12 immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) TCTTTCCAGGGTTCTTCTTGC 0.567 NLRP2 55655 broad.mit.edu 37 19 55494276 55494276 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr19:55494276G>A uc002qij.2 + 6 1296 c.1210G>A c.(1210-1212)GTG>ATG p.V404M NLRP2_uc010yfp.1_Missense_Mutation_p.V381M|NLRP2_uc010esn.2_Missense_Mutation_p.V380M|NLRP2_uc010eso.2_Missense_Mutation_p.V401M|NLRP2_uc010esp.2_Missense_Mutation_p.V382M NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 404 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTGCTGGATCGTGTGCACGAC 0.642 C2orf39 92749 broad.mit.edu 37 2 26678055 26678055 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:26678055A>T uc002rhg.2 + 16 2194 c.2120A>T c.(2119-2121)CAG>CTG p.Q707L NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 707 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGAGCAGCAGAACACAGAG 0.597 NRBP1 29959 broad.mit.edu 37 2 27656863 27656863 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:27656863T>G uc002rko.2 + 5 1173 c.341T>G c.(340-342)GTT>GGT p.V114G NRBP1_uc002rkq.2_Missense_Mutation_p.V114G|NRBP1_uc002rkp.2_Missense_Mutation_p.V114G|NRBP1_uc002rkr.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 114 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) CAGGAAAAGGTTCGTGCTGTG 0.403 ALK 238 broad.mit.edu 37 2 30142909 30142909 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:30142909G>A uc002rmy.2 - 1 1524 c.617C>T c.(616-618)GCG>GTG p.A206V NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 206 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCGAATTGCCGCGGACAGCCT 0.602 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome BCL11A 53335 broad.mit.edu 37 2 60688687 60688687 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:60688687C>T uc002sae.1 - 4 1588 c.1360G>A c.(1360-1362)GAC>AAC p.D454N BCL11A_uc002sab.2_Missense_Mutation_p.D454N|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.D123N|BCL11A_uc010ypj.1_Missense_Mutation_p.D420N|BCL11A_uc002sad.1_Missense_Mutation_p.D302N|BCL11A_uc002saf.1_Missense_Mutation_p.D420N NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 454 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCCACCAAGTCGCTGGTGCCG 0.572 T IGH@ B-CLL PUS10 150962 broad.mit.edu 37 2 61188647 61188647 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:61188647T>C uc010fci.2 - 10 885 c.825A>G c.(823-825)GTA>GTG p.V275V PUS10_uc002sao.2_Silent_p.V275V|PUS10_uc010ypk.1_Silent_p.V52V NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 275 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(2)|large_intestine(1)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) GAACAGCGCATACAGCCTTTG 0.353 TMEM127 55654 broad.mit.edu 37 2 96920726 96920726 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:96920726A>G uc002svq.2 - 3 511 c.254T>C c.(253-255)ATG>ACG p.M85T TMEM127_uc002svr.2_Missense_Mutation_p.M85T NM_017849 NP_060319 O75204 TM127_HUMAN transmembrane protein 127 85 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane 0 CTGGGGATTCATGCAGAAATC 0.542 Pheochromocytoma_(Adrenal)_Familial SNRNP200 23020 broad.mit.edu 37 2 96949033 96949033 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:96949033G>A uc002svu.2 - 34 4907 c.4821C>T c.(4819-4821)AGC>AGT p.S1607S SNRNP200_uc002svt.2_Silent_p.S217S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Silent_p.S134S NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1607 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CCTTGAGCGTGCTGTCACTTA 0.562 RALB 5899 broad.mit.edu 37 2 121043489 121043489 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:121043489A>G uc002tmk.2 + 3 344 c.154A>G c.(154-156)AGA>GGA p.R52G RALB_uc010yys.1_Missense_Mutation_p.R74G|RALB_uc002tml.2_Missense_Mutation_p.R73G|RALB_uc002tmm.2_Intron|RALB_uc010yyt.1_Intron NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 52 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) TGACAGTTATAGAAAGAAAGT 0.403 CCDC115 84317 broad.mit.edu 37 2 131099517 131099517 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:131099517C>A uc002tqy.1 - 2 336 c.112G>T c.(112-114)GGC>TGC p.G38C CCDC115_uc002tqw.1_Missense_Mutation_p.G30C|CCDC115_uc010zaf.1_Missense_Mutation_p.G33C|CCDC115_uc002tqx.2_Missense_Mutation_p.G33C|CCDC115_uc002tqz.1_Missense_Mutation_p.G38C|IMP4_uc002tra.1_5'Flank NM_032357 NP_115733 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 38 endosome|lysosome 0 Colorectal(110;0.1) GAGAGCCAGCCCTGCAGGGAG 0.672 GPR39 2863 broad.mit.edu 37 2 133174980 133174980 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:133174980C>T uc002ttl.2 + 1 834 c.365C>T c.(364-366)ACG>ATG p.T122M NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 122 Helical; Name=3; (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 AGCTACGCTACGCTGCTGCAC 0.572 GTDC1 79712 broad.mit.edu 37 2 144764846 144764846 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:144764846C>T uc002tvp.2 - 7 1057 c.778G>A c.(778-780)GGT>AGT p.G260S GTDC1_uc002tvo.2_Missense_Mutation_p.G260S|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.G260S|GTDC1_uc010fnn.2_Missense_Mutation_p.G260S|GTDC1_uc002tvs.2_Missense_Mutation_p.G228S|GTDC1_uc010fno.2_Missense_Mutation_p.G131S|GTDC1_uc002tvt.1_Missense_Mutation_p.G260S NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 260 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) TTATTTTCACCATGATGAGAG 0.408 RBM43 375287 broad.mit.edu 37 2 152107671 152107671 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:152107671G>A uc002txh.2 - 4 971 c.823C>T c.(823-825)CAT>TAT p.H275Y NM_198557 NP_940959 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 275 nucleotide binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) TCTTTTACATGTTTTGCATTG 0.348 ZAK 51776 broad.mit.edu 37 2 174047623 174047623 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:174047623A>T uc002uhz.2 + 4 489 c.289A>T c.(289-291)AAC>TAC p.N97Y ZAK_uc002uhx.2_Missense_Mutation_p.N97Y|ZAK_uc002uhy.2_Missense_Mutation_p.N97Y|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.N97Y NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 97 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) CATTAACAGTAACAGAAGTGA 0.323 ATF2 1386 broad.mit.edu 37 2 175976308 175976308 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:175976308T>C uc002ujl.2 - 10 1078 c.816A>G c.(814-816)TCA>TCG p.S272S ATF2_uc010fqv.2_Silent_p.S223S|ATF2_uc002ujv.2_Silent_p.S19S|ATF2_uc002ujm.2_Silent_p.S214S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.S272S|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.S254S|ATF2_uc002ujs.2_Silent_p.S214S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Silent_p.S214S|ATF2_uc002ujx.1_RNA NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 272 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) TTTTTGCTTCTGACTGTACTG 0.408 TTN 7273 broad.mit.edu 37 2 179407894 179407894 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:179407894T>C uc010zfg.1 - 296 89326 c.89102A>G c.(89101-89103)GAA>GGA p.E29701G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23396G|TTN_uc010zfi.1_Missense_Mutation_p.E23329G|TTN_uc010zfj.1_Missense_Mutation_p.E23204G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30628 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) TTGTTCACCTTCATTTAAGGA 0.448 IHH 3549 broad.mit.edu 37 2 219920533 219920533 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:219920533C>T uc002vjo.1 - 3 632 c.632G>A c.(631-633)CGC>CAC p.R211H NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 211 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCTCCAGGCGTACCTGGGC 0.667 CAPN10 11132 broad.mit.edu 37 2 241530408 241530408 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:241530408A>G uc002vzk.1 + 3 634 c.450A>G c.(448-450)TTA>TTG p.L150L CAPN10_uc010zoh.1_Silent_p.L150L|CAPN10_uc002vzl.1_Silent_p.L150L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.Y26C|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 150 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GGCTCCCCTTACTGGAAAAGG 0.642 FKBP1A 2280 broad.mit.edu 37 20 1356212 1356212 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr20:1356212G>A uc002wey.2 - 3 295 c.121C>T c.(121-123)CGG>TGG p.R41W FKBP1A_uc010gac.2_Intron|uc002wew.2_Intron|uc002wex.2_Intron|FKBP1A_uc002wez.2_Intron|FKBP1A_uc010gad.2_Intron|FKBP1A_uc002wfa.2_Missense_Mutation_p.R41W|FKBP1A_uc002wfb.2_Intron|FKBP1A_uc010gae.2_Missense_Mutation_p.R25W|FKBP1A_uc010gaf.2_RNA NM_000801 NP_000792 P62942 FKB1A_HUMAN FK506 binding protein 1A, 12kDa 41 PPIase FKBP-type. 'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding 0 Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864) TTTCTGTCCCGGGAGGAATCA 0.463 PAK7 57144 broad.mit.edu 37 20 9520159 9520159 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr20:9520159C>G uc002wnl.2 - 11 2655 c.2110G>C c.(2110-2112)GGT>CGT p.G704R PAK7_uc002wnk.2_Missense_Mutation_p.G704R|PAK7_uc002wnj.2_Missense_Mutation_p.G704R|PAK7_uc010gby.1_Missense_Mutation_p.G617R NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 704 G -> S (in a metastatic melanoma sample; somatic mutation). ATP binding|protein binding|protein serine/threonine kinase activity p.G704S(1) lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GACGGTGGACCTGCTAGTTTT 0.507 TH1L 51497 broad.mit.edu 37 20 57569712 57569712 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr20:57569712A>C uc002yag.2 + 15 1781 c.1754A>C c.(1753-1755)AAC>ACC p.N585T TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_3'UTR NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 585 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) TGCAAATCTAACTTCATCATG 0.343 ZNF831 128611 broad.mit.edu 37 20 57766977 57766977 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr20:57766977G>A uc002yan.2 + 1 903 c.903G>A c.(901-903)TTG>TTA p.L301L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 301 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGCGTAAGTTGCCAGAGCAGA 0.701 CDH4 1002 broad.mit.edu 37 20 60509180 60509180 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr20:60509180G>A uc002ybn.1 + 15 2460 c.2446G>A c.(2446-2448)GTG>ATG p.V816M CDH4_uc002ybp.1_Missense_Mutation_p.V742M NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 816 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGCCCCTGGCGTGCGTCGCGT 0.677 LAMA5 3911 broad.mit.edu 37 20 60921763 60921763 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr20:60921763C>T uc002ycq.2 - 8 1233 c.1166G>A c.(1165-1167)GGT>GAT p.G389D NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 389 Laminin EGF-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACACCCCCACCCTGATAGGT 0.647 LGALS1 3956 broad.mit.edu 37 22 38075624 38075624 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr22:38075624C>T uc003atn.2 + 4 373 c.276C>T c.(274-276)TTC>TTT p.F92F NM_002305 NP_002296 P09382 LEG1_HUMAN galectin-1 92 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity 0 Melanoma(58;0.0574) GCATCACCTTCGACCAGGCCA 0.607 TNFRSF13C 115650 broad.mit.edu 37 22 42321376 42321376 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr22:42321376G>A uc003bbl.2 - 3 594 c.550C>T c.(550-552)CAA>TAA p.Q184* WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Nonsense_Mutation_p.Q185* NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 184 Cytoplasmic (Potential). integral to membrane receptor activity 0 CCCTGCTATTGTTGCTCAGGG 0.632 FAM116B 414918 broad.mit.edu 37 22 50753285 50753285 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr22:50753285A>T uc011aru.1 - 11 896 c.824T>A c.(823-825)CTG>CAG p.L275Q FAM116B_uc011arv.1_Missense_Mutation_p.L275Q NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN family with sequence similarity 116, member B 275 0 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGGACTAGCAGGGGCTCCCC 0.672 CNTN4 152330 broad.mit.edu 37 3 3095653 3095653 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr3:3095653A>G uc003bpc.2 + 23 3195 c.2974A>G c.(2974-2976)ATA>GTA p.I992V CNTN4_uc003bpe.2_Missense_Mutation_p.I664V|CNTN4_uc003bpf.2_Missense_Mutation_p.I663V|CNTN4_uc003bpg.2_Missense_Mutation_p.I248V NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 992 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AATTCCAAAGATATCAAGTGA 0.418 TGFBR2 7048 broad.mit.edu 37 3 30713931 30713931 + Splice_Site SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr3:30713931T>G uc003ceo.2 + 4 1636 c.1254_splice c.e4+2 p.Q418_splice TGFBR2_uc003cen.2_Splice_Site_p.Q443_splice NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 AGTGGGCAGGTAAGTTAGAGC 0.527 IFT122 55764 broad.mit.edu 37 3 129231237 129231237 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr3:129231237C>T uc003emm.2 + 24 3175 c.2969C>T c.(2968-2970)CCC>CTC p.P990L IFT122_uc003eml.2_Missense_Mutation_p.P1041L|IFT122_uc003emn.2_Missense_Mutation_p.P931L|IFT122_uc003emo.2_Missense_Mutation_p.P880L|IFT122_uc003emp.2_Missense_Mutation_p.P840L|IFT122_uc010htc.2_Missense_Mutation_p.P983L|IFT122_uc011bky.1_Missense_Mutation_p.P781L|IFT122_uc003emq.2_Missense_Mutation_p.P830L|IFT122_uc003emr.2_Missense_Mutation_p.P743L|IFT122_uc011bla.1_Missense_Mutation_p.P764L|IFT122_uc010hte.2_Missense_Mutation_p.P316L|IFT122_uc003ems.2_Missense_Mutation_p.P372L|IFT122_uc011bkx.1_Missense_Mutation_p.P831L NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 990 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 AAGGACACCCCCTCGGGCATC 0.517 SIAH2 6478 broad.mit.edu 37 3 150480426 150480427 + Missense_Mutation DNP GC GC CA TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr3:150480426_150480427GC>CA uc003eyi.2 - 1 837_838 c.210_211GC>TG c.(208-213)CAGCAC>CATGAC p.70_71QH>HD NM_005067 NP_005058 O43255 SIAH2_HUMAN seven in absentia homolog 2 70_71 apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) AGCTCGTGGTGCTGCGGGGACA 0.559 PIGZ 80235 broad.mit.edu 37 3 196674283 196674283 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr3:196674283C>T uc003fxh.2 - 3 1632 c.1485G>A c.(1483-1485)CTG>CTA p.L495L NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 495 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GGGTTTGGCACAGGGCCCAGT 0.647 PDS5A 23244 broad.mit.edu 37 4 39904078 39904078 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:39904078A>T uc003guv.3 - 13 1928 c.1388T>A c.(1387-1389)CTG>CAG p.L463Q PDS5A_uc010ifo.2_Missense_Mutation_p.L423Q|PDS5A_uc003guw.3_Missense_Mutation_p.L463Q NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 463 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 CTCTACCAACAGTCTAGGAAA 0.279 PHOX2B 8929 broad.mit.edu 37 4 41748140 41748140 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:41748140G>A uc003gwf.3 - 3 989 c.629C>T c.(628-630)GCG>GTG p.A210V NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 210 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 gccTCCATTCGCCCCGCAGCT 0.408 Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome LPHN3 23284 broad.mit.edu 37 4 62775347 62775347 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:62775347G>T uc010ihh.2 + 9 1926 c.1753G>T c.(1753-1755)GCT>TCT p.A585S LPHN3_uc003hcq.3_Missense_Mutation_p.A585S|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Missense_Mutation_p.A414S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 585 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TCACTTGAATGCTGGGGACAT 0.468 FRAS1 80144 broad.mit.edu 37 4 79402981 79402981 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:79402981C>T uc003hlb.2 + 57 8907 c.8467C>T c.(8467-8469)CGC>TGC p.R2823C NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2818 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCCAGTTATCCGCCATGGTAC 0.473 DSPP 1834 broad.mit.edu 37 4 88534064 88534064 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:88534064C>T uc003hqu.2 + 4 846 c.726C>T c.(724-726)TCC>TCT p.S242S NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 242 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TGGATAATTCCGATGGGAGTC 0.458 FAM190A 401145 broad.mit.edu 37 4 91549260 91549260 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:91549260G>A uc003hsv.3 + 6 2149 c.1809G>A c.(1807-1809)GCG>GCA p.A603A FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.A603A NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 603 large_intestine(1)|ovary(1) 2 GTCCATCTGCGGATTGGCCTC 0.443 NFKB1 4790 broad.mit.edu 37 4 103517342 103517342 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:103517342A>C uc011ceq.1 + 14 1812 c.1345A>C c.(1345-1347)AGT>CGT p.S449R NFKB1_uc011cep.1_Missense_Mutation_p.S450R|NFKB1_uc011cer.1_Missense_Mutation_p.S269R NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 449 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TTGTGACAAAAGTGATGACAA 0.408 EGF 1950 broad.mit.edu 37 4 110915908 110915908 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:110915908C>T uc003hzy.3 + 20 3329 c.2877C>T c.(2875-2877)CAC>CAT p.H959H EGF_uc011cfu.1_Silent_p.H917H|EGF_uc011cfv.1_Silent_p.H918H|EGF_uc010imk.2_Silent_p.H107H NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 959 Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CACCCCCTCACCTCAGGGAAG 0.433 ANK2 287 broad.mit.edu 37 4 114195727 114195727 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:114195727C>T uc003ibe.3 + 15 1705 c.1605C>T c.(1603-1605)CAC>CAT p.H535H ANK2_uc003ibd.3_Silent_p.H514H|ANK2_uc003ibf.3_Silent_p.H535H|ANK2_uc003ibc.2_Silent_p.H511H|ANK2_uc011cgb.1_Silent_p.H550H NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 535 ANK 16. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CACCACTGCACATCTCTGCCC 0.527 ANKRD50 57182 broad.mit.edu 37 4 125592169 125592169 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:125592169C>A uc003ifg.3 - 3 2529 c.2263G>T c.(2263-2265)GCT>TCT p.A755S ANKRD50_uc011cgo.1_Missense_Mutation_p.A576S|ANKRD50_uc010inw.2_Missense_Mutation_p.A755S NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 755 ANK 9. central_nervous_system(1) 1 TCATAGGCAGCTACCAGCAGT 0.473 FAT4 79633 broad.mit.edu 37 4 126241663 126241663 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:126241663G>A uc003ifj.3 + 1 4097 c.4097G>A c.(4096-4098)AGC>AAC p.S1366N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1366 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTTAGCATTAGCCCAAACACT 0.383 FAT4 79633 broad.mit.edu 37 4 126412365 126412365 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:126412365C>T uc003ifj.3 + 17 14388 c.14388C>T c.(14386-14388)AAC>AAT p.N4796N FAT4_uc011cgp.1_Silent_p.N3037N|FAT4_uc003ifi.1_Silent_p.N2273N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4796 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGAGGCTCAACACACCTCGCC 0.522 PCDH10 57575 broad.mit.edu 37 4 134072395 134072395 + Missense_Mutation SNP T T C rs146215385 TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:134072395T>C uc003iha.2 + 1 1926 c.1100T>C c.(1099-1101)GTG>GCG p.V367A uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V367A NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 367 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AAGGAAGCGGTGAGTGAGGGC 0.632 PCDH10 57575 broad.mit.edu 37 4 134073610 134073610 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:134073610G>C uc003iha.2 + 1 3141 c.2315G>C c.(2314-2316)GGC>GCC p.G772A PCDH10_uc003igz.2_Missense_Mutation_p.G772A NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 772 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ACCTGCTGTGGCCGCCAAGCC 0.582 POU4F2 5458 broad.mit.edu 37 4 147561803 147561803 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:147561803G>A uc003ikv.2 + 2 1321 c.1073G>A c.(1072-1074)CGC>CAC p.R358H NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 358 Homeobox. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) CCAGAGAAGCGCTCGCTCGAA 0.607 WDR17 116966 broad.mit.edu 37 4 177081171 177081171 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:177081171A>G uc003iuj.2 + 20 2780 c.2624A>G c.(2623-2625)GAT>GGT p.D875G WDR17_uc003iuk.2_Missense_Mutation_p.D851G|WDR17_uc003ium.3_Missense_Mutation_p.D851G|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.D94G NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 875 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATCCAGGAAGATAAGGATGAT 0.333 WDR17 116966 broad.mit.edu 37 4 177081215 177081215 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:177081215A>C uc003iuj.2 + 20 2824 c.2668A>C c.(2668-2670)AAA>CAA p.K890Q WDR17_uc003iuk.2_Missense_Mutation_p.K866Q|WDR17_uc003ium.3_Missense_Mutation_p.K866Q|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K109Q NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 890 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGGTGATGTGAAAAAGCTAGT 0.383 ODZ3 55714 broad.mit.edu 37 4 183672997 183672997 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:183672997C>T uc003ivd.1 + 19 3711 c.3674C>T c.(3673-3675)ACG>ATG p.T1225M ODZ3_uc003ive.1_Missense_Mutation_p.T638M NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1225 Extracellular (Potential).|NHL 1. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GATCCAGTCACGGGAGATCTG 0.458 CDH18 1016 broad.mit.edu 37 5 19721471 19721471 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:19721471C>T uc003jgc.2 - 4 1005 c.628G>A c.(628-630)GTC>ATC p.V210I CDH18_uc003jgd.2_Missense_Mutation_p.V210I|CDH18_uc011cnm.1_Missense_Mutation_p.V210I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 210 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTAGGGTCGACGGAGAAGTAG 0.448 ZMAT2 153527 broad.mit.edu 37 5 140081626 140081626 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:140081626C>T uc003lgy.1 + 3 162 c.148C>T c.(148-150)CGG>TGG p.R50W NM_144723 NP_653324 Q96NC0 ZMAT2_HUMAN zinc finger, matrin type 2 50 nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCTTTTACGGCATAGGGA 0.443 PCDHA11 56138 broad.mit.edu 37 5 140250985 140250985 + Missense_Mutation SNP C C T rs146613275 by1000genomes TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:140250985C>T uc003lia.2 + 1 3155 c.2297C>T c.(2296-2298)ACG>ATG p.T766M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T766M NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 766 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCTAAGACGGACCTCATG 0.627 FAT2 2196 broad.mit.edu 37 5 150885490 150885490 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:150885490G>A uc003lue.3 - 23 12699 c.12686C>T c.(12685-12687)CCC>CTC p.P4229L GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P836L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 4229 Cytoplasmic (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCTCCAGGGGGAAGGGGAA 0.642 ATP10B 23120 broad.mit.edu 37 5 160047922 160047922 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:160047922C>T uc003lym.1 - 15 2695 c.1848G>A c.(1846-1848)ACG>ACA p.T616T ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.T174T NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 616 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTCCAGGGACGTCCCCAGAG 0.483 HMP19 51617 broad.mit.edu 37 5 173473785 173473785 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:173473785C>T uc003mcx.2 + 2 172 c.27C>T c.(25-27)AGC>AGT p.S9S NM_015980 NP_057064 Q9Y328 NSG2_HUMAN HMP19 protein 9 Cytoplasmic (Potential). dopamine receptor signaling pathway cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane dopamine receptor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GTAACCCCAGCGAGAAGGGAA 0.532 HK3 3101 broad.mit.edu 37 5 176314553 176314553 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:176314553A>C uc003mfa.2 - 11 1591 c.1499T>G c.(1498-1500)GTT>GGT p.V500G HK3_uc003mez.2_Missense_Mutation_p.V56G NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 500 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGTGCCTGAACCGCAGCCAG 0.682 DBN1 1627 broad.mit.edu 37 5 176894259 176894259 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr5:176894259G>A uc003mgy.2 - 6 724 c.552C>T c.(550-552)GCC>GCT p.A184A DBN1_uc003mgx.2_Silent_p.A186A|DBN1_uc010jkn.1_Silent_p.A134A|DBN1_uc003mgz.1_Silent_p.A121A NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 184 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCATACCTTGGCCTGCTCCC 0.607 NUP153 9972 broad.mit.edu 37 6 17629625 17629625 + Silent SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:17629625A>C uc003ncd.1 - 18 3005 c.2805T>G c.(2803-2805)GGT>GGG p.G935G NUP153_uc011dje.1_Silent_p.G966G|NUP153_uc010jpl.1_Silent_p.G893G NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 935 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CGGATGACACACCTATTTTGA 0.378 HIST1H1C 3006 broad.mit.edu 37 6 26056223 26056223 + Missense_Mutation SNP G G C rs141266449 TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:26056223G>C uc003nfw.2 - 1 477 c.434C>G c.(433-435)GCA>GGA p.A145G NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 145 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CTTCGGAGTTGCGCCGCCAGC 0.582 HIST1H1C 3006 broad.mit.edu 37 6 26056250 26056250 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:26056250T>A uc003nfw.2 - 1 450 c.407A>T c.(406-408)AAG>ATG p.K136M NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 136 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CTTGGGCTTCTTGGCTGCCCC 0.567 HIST1H2BK 85236 broad.mit.edu 37 6 27114498 27114498 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:27114498C>T uc003nix.1 - 1 122 c.80G>A c.(79-81)GGC>GAC p.G27D HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 27 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 GCGCTTCTTGCCGTCCTTCTT 0.602 HIST1H2AJ 8331 broad.mit.edu 37 6 27782505 27782505 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:27782505C>A uc003njn.1 - 1 14 c.14G>T c.(13-15)GGT>GTT p.G5V HIST1H2BM_uc003njo.2_5'Flank NM_021066 NP_066544 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 5 nucleosome assembly nucleosome|nucleus DNA binding 0 TCCCTGCTTACCACGCCCAGA 0.537 OR2J2 26707 broad.mit.edu 37 6 29142227 29142227 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:29142227G>A uc011dlm.1 + 1 917 c.815G>A c.(814-816)GGC>GAC p.G272D NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTGATCAGGGCAAGTTCATT 0.428 HLA-B 3106 broad.mit.edu 37 6 31324659 31324659 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:31324659C>T uc003nth.2 - 2 203 c.149G>A c.(148-150)GGC>GAC p.G50D HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.G50D|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.G22D NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 50 Alpha-1.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 GTCCACGTAGCCCACTGAGAT 0.677 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of RDBP 7936 broad.mit.edu 37 6 31922644 31922644 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:31922644G>C uc003nyk.2 - 7 634 c.430C>G c.(430-432)CGA>GGA p.R144G RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Missense_Mutation_p.R84G|RDBP_uc003nym.1_Missense_Mutation_p.R139G NM_002904 NP_002895 P18615 NELFE_HUMAN RD RNA-binding protein 144 positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction mitochondrion|nucleoplasm nucleotide binding|protein binding|RNA binding 0 CCTAGTTCTCGAAGTCGATCA 0.547 SYNGAP1 8831 broad.mit.edu 37 6 33411705 33411705 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:33411705G>A uc011dri.1 + 15 3571 c.3376G>A c.(3376-3378)GGT>AGT p.G1126S SYNGAP1_uc010juy.2_Missense_Mutation_p.G1097S|SYNGAP1_uc010juz.2_Missense_Mutation_p.G838S NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 1126 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 TGGCGGAGGGGGTGGGGGGCT 0.682 LHFPL5 222662 broad.mit.edu 37 6 35773520 35773520 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:35773520G>C uc003olg.1 + 1 450 c.73G>C c.(73-75)GTG>CTG p.V25L NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 25 Helical; (Potential). integral to membrane skin(1) 1 CTCGCGAGCCGTGGGCGTGAT 0.617 RNF8 9025 broad.mit.edu 37 6 37344811 37344811 + Splice_Site SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:37344811T>G uc003onq.3 + 6 1429 c.1236_splice c.e6+2 p.E412_splice RNF8_uc003onr.3_Splice_Site_p.E412_splice|RNF8_uc011dtx.1_Splice_Site_p.E344_splice NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 TTCATTGAGGTAATTATGAAC 0.249 KLC4 89953 broad.mit.edu 37 6 43029177 43029177 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:43029177C>T uc003otv.1 + 2 181 c.104C>T c.(103-105)GCC>GTC p.A35V KLC4_uc003otr.1_RNA|MRPL2_uc003ots.1_5'Flank|MRPL2_uc011dvc.1_5'Flank|MRPL2_uc010jyi.2_5'Flank|MRPL2_uc003ott.3_5'Flank|KLC4_uc011dvd.1_Missense_Mutation_p.A35V|KLC4_uc003otu.2_Missense_Mutation_p.A35V|KLC4_uc003otw.1_Missense_Mutation_p.A53V|KLC4_uc003otx.1_Missense_Mutation_p.A35V|KLC4_uc003oty.1_Missense_Mutation_p.A35V|KLC4_uc003otz.1_Missense_Mutation_p.A35V NM_201521 NP_958929 Q9NSK0 KLC4_HUMAN kinesin-like 8 isoform a 35 Potential. cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding skin(3)|ovary(1) 4 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) GGGCTAGAGGCCCTACGCAGT 0.642 EEF1A1 1915 broad.mit.edu 37 6 74227767 74227767 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:74227767T>C uc003phi.2 - 6 1287 c.1250A>G c.(1249-1251)GAC>GGC p.D417G EEF1A1_uc003phd.2_Missense_Mutation_p.D142G|EEF1A1_uc003phe.2_Missense_Mutation_p.D407G|EEF1A1_uc003phf.2_Missense_Mutation_p.D410G|EEF1A1_uc003phg.2_Intron|EEF1A1_uc003phh.2_Missense_Mutation_p.D263G|EEF1A1_uc003phj.2_Missense_Mutation_p.D417G|EEF1A1_uc003phk.2_Missense_Mutation_p.D417G|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 417 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 AGGTGGATAGTCTGAGAAGCT 0.378 OREG0003893 type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay PRSS35 167681 broad.mit.edu 37 6 84234217 84234217 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:84234217C>T uc003pjz.2 + 2 1220 c.1057C>T c.(1057-1059)CGT>TGT p.R353C PRSS35_uc010kbm.2_Missense_Mutation_p.R353C NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 353 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGTCTATCTGCGTCTGAAAGA 0.512 ZNF292 23036 broad.mit.edu 37 6 87965269 87965269 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:87965269A>G uc003plm.3 + 8 1963 c.1922A>G c.(1921-1923)TAT>TGT p.Y641C NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AATAGTCTCTATTCAACAGAT 0.368 TIAM2 26230 broad.mit.edu 37 6 155451015 155451015 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:155451015G>A uc003qqb.2 + 6 1931 c.658G>A c.(658-660)GCC>ACC p.A220T TIAM2_uc003qqe.2_Missense_Mutation_p.A220T NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 220 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GGGGTCCAGCGCCGATTCCCT 0.642 CCR6 1235 broad.mit.edu 37 6 167550723 167550723 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:167550723G>A uc003qvl.2 + 13 3481 c.1005G>A c.(1003-1005)TGG>TGA p.W335* CCR6_uc010kkm.2_Nonsense_Mutation_p.W335*|CCR6_uc003qvn.3_Nonsense_Mutation_p.W335*|CCR6_uc003qvm.3_Nonsense_Mutation_p.W335* NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 335 Cytoplasmic (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) AGGACCTGTGGTGTGTGAGAA 0.498 MAD1L1 8379 broad.mit.edu 37 7 1937852 1937852 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:1937852T>C uc003slh.1 - 18 2248 c.1982A>G c.(1981-1983)GAC>GGC p.D661G MAD1L1_uc003sle.1_Missense_Mutation_p.D390G|MAD1L1_uc003slf.1_Missense_Mutation_p.D661G|MAD1L1_uc003slg.1_Missense_Mutation_p.D661G|MAD1L1_uc010ksh.1_Missense_Mutation_p.D661G|MAD1L1_uc003sli.1_Missense_Mutation_p.D569G|MAD1L1_uc010ksi.1_Missense_Mutation_p.D614G|MAD1L1_uc010ksj.2_Missense_Mutation_p.D661G|MAD1L1_uc003sld.1_Missense_Mutation_p.D117G NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 661 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GATGAGGCAGTCGCCTGGGTG 0.627 BBS9 27241 broad.mit.edu 37 7 33217127 33217127 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:33217127G>C uc003tdn.1 + 5 879 c.366G>C c.(364-366)CAG>CAC p.Q122H BBS9_uc003tdo.1_Missense_Mutation_p.Q122H|BBS9_uc003tdp.1_Missense_Mutation_p.Q122H|BBS9_uc003tdq.1_Missense_Mutation_p.Q122H|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.Q122H|BBS9_uc011kao.1_5'UTR NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 122 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) ACCAATGTCAGATGAAATTGA 0.323 Bardet-Biedl_syndrome DDC 1644 broad.mit.edu 37 7 50566911 50566911 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:50566911C>A uc003tpf.3 - 8 897 c.811G>T c.(811-813)GAT>TAT p.D271Y DDC_uc010kza.2_Missense_Mutation_p.D186Y|DDC_uc003tpg.3_Missense_Mutation_p.D271Y NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 271 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TAGGCTGCATCAACGTGCAGC 0.552 SEMA3C 10512 broad.mit.edu 37 7 80418653 80418653 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:80418653A>G uc003uhj.2 - 12 1885 c.1323T>C c.(1321-1323)GAT>GAC p.D441D SEMA3C_uc011kgw.1_Silent_p.D459D NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 441 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 GGTATCTCCCATCAGCAGCGT 0.393 PPP1R9A 55607 broad.mit.edu 37 7 94539579 94539579 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:94539579C>T uc003unp.2 + 2 436 c.154C>T c.(154-156)CAG>TAG p.Q52* PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.Q52*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.Q52*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.Q52*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.Q52* NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 52 Actin-binding. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TGAGGGCTCCCAGCAGAGCAG 0.448 HNSCC(28;0.073) BAIAP2L1 55971 broad.mit.edu 37 7 97991713 97991713 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:97991713C>T uc003upj.2 - 2 346 c.83G>A c.(82-84)CGA>CAA p.R28Q NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 28 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TATTAAATTTCGCAGCCCAGG 0.299 ACHE 43 broad.mit.edu 37 7 100491479 100491479 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:100491479C>A uc003uxd.2 - 1 531 c.375G>T c.(373-375)GAG>GAT p.E125D ACHE_uc003uxe.2_Missense_Mutation_p.E125D|ACHE_uc003uxf.2_Missense_Mutation_p.E125D|ACHE_uc003uxg.2_Missense_Mutation_p.E125D|ACHE_uc003uxh.2_Missense_Mutation_p.E125D|ACHE_uc003uxi.2_Missense_Mutation_p.E125D|ACHE_uc003uxj.1_Missense_Mutation_p.E244D NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 125 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) ACAGGCAGTCCTCGCTCAGCT 0.582 DOCK4 9732 broad.mit.edu 37 7 111430549 111430549 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:111430549C>A uc003vfx.2 - 31 3548 c.3279G>T c.(3277-3279)ATG>ATT p.M1093I DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Missense_Mutation_p.M534I|DOCK4_uc003vfy.2_Missense_Mutation_p.M1129I NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1093 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GCTCCCAGTCCATCATATCAT 0.473 PTPRZ1 5803 broad.mit.edu 37 7 121653617 121653617 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:121653617C>T uc003vjy.2 + 12 4912 c.4517C>T c.(4516-4518)CCA>CTA p.P1506L PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1506 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 GGTAAATCACCATCAGCAAAT 0.418 PTPRZ1 5803 broad.mit.edu 37 7 121698906 121698906 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:121698906C>T uc003vjy.2 + 28 6976 c.6581C>T c.(6580-6582)CCA>CTA p.P2194L PTPRZ1_uc003vjz.2_Missense_Mutation_p.P1327L|PTPRZ1_uc011knt.1_Missense_Mutation_p.P784L NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 2194 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TGGCCAAATCCAGATAGCCCC 0.363 LMOD2 442721 broad.mit.edu 37 7 123296099 123296099 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:123296099G>A uc003vky.2 + 1 239 c.82G>A c.(82-84)GAG>AAG p.E28K NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 28 Tropomyosin-binding (By similarity).|Potential.|Glu-rich. cytoskeleton actin binding|tropomyosin binding 0 CCTGTCAGCCGAGGAGCTGAA 0.537 MKLN1 4289 broad.mit.edu 37 7 131151138 131151138 + Nonsense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:131151138T>G uc011kpm.1 + 15 1956 c.1892T>G c.(1891-1893)TTA>TGA p.L631* MKLN1_uc011kpl.1_Nonsense_Mutation_p.L608*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.L631*|MKLN1_uc003vqs.2_Nonsense_Mutation_p.L424*|MKLN1_uc003vqu.2_Nonsense_Mutation_p.L121* NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 631 Kelch 6. signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) AAAGATTATTTACTGAGGCAT 0.333 KEL 3792 broad.mit.edu 37 7 142650947 142650947 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:142650947C>G uc003wcb.2 - 9 1231 c.1021G>C c.(1021-1023)GAA>CAA p.E341Q NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 341 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) TTCAAATATTCCACGTCATGG 0.537 CNTNAP2 26047 broad.mit.edu 37 7 146805422 146805422 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:146805422T>C uc003weu.1 + 5 1250 c.734T>C c.(733-735)CTG>CCG p.L245P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 245 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAAGCCAAGCTGGTCCTCAGT 0.398 HNSCC(39;0.1) ZNF862 643641 broad.mit.edu 37 7 149558351 149558351 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:149558351T>C uc010lpn.2 + 7 2294 c.2102T>C c.(2101-2103)ATG>ACG p.M701T ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 701 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 GGCTCAGCCATGTTGAGCTGC 0.632 MLL3 58508 broad.mit.edu 37 7 151893050 151893050 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:151893050T>C uc003wla.2 - 28 4539 c.4320A>G c.(4318-4320)ACA>ACG p.T1440T MLL3_uc003wkz.2_Silent_p.T501T NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1440 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGTCATCATCTGTGTTTAAAA 0.299 N medulloblastoma NRG1 3084 broad.mit.edu 37 8 32621289 32621289 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:32621289C>T uc003xiv.2 + 12 1809 c.1292C>T c.(1291-1293)CCG>CTG p.P431L NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P436L|NRG1_uc003xiw.2_Missense_Mutation_p.P428L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P173L|NRG1_uc010lvs.2_Missense_Mutation_p.P173L|NRG1_uc010lvp.2_Missense_Mutation_p.P385L|NRG1_uc010lvq.2_Missense_Mutation_p.P368L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P274L|NRG1_uc003xja.2_Missense_Mutation_p.P242L NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 431 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) ATGACCACCCCGGCTCGTATG 0.547 UNC5D 137970 broad.mit.edu 37 8 35453072 35453072 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:35453072A>C uc003xjr.1 + 4 795 c.467A>C c.(466-468)TAT>TCT p.Y156S UNC5D_uc003xjs.1_Missense_Mutation_p.Y151S NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 156 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTCTTTGCAGATTTACGGAAA 0.433 GPR124 25960 broad.mit.edu 37 8 37688342 37688342 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:37688342G>A uc003xkj.2 + 7 1196 c.833G>A c.(832-834)CGC>CAC p.R278H GPR124_uc010lvy.2_Missense_Mutation_p.R278H NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 278 Extracellular (Potential).|Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AACGACACCCGCATCCGCTGG 0.642 LYN 4067 broad.mit.edu 37 8 56912001 56912001 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:56912001C>T uc003xsk.3 + 12 1511 c.1229C>T c.(1228-1230)ACG>ATG p.T410M LYN_uc003xsl.3_Missense_Mutation_p.T389M NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 410 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) ATTAAGTGGACGGCTCCAGAA 0.393 TRPA1 8989 broad.mit.edu 37 8 72950287 72950287 + Silent SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:72950287A>T uc003xza.2 - 20 2491 c.2316T>A c.(2314-2316)ACT>ACA p.T772T uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 772 Extracellular (Potential). integral to plasma membrane p.T772T(1) ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AAATCATACAAGTTTTTATTA 0.259 NECAB1 64168 broad.mit.edu 37 8 91929744 91929744 + Nonsense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:91929744G>T uc011lgg.1 + 6 576 c.382G>T c.(382-384)GAA>TAA p.E128* NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 128 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) CTCCAATTTGGAACAATTCGT 0.378 YWHAZ 7534 broad.mit.edu 37 8 101936211 101936211 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:101936211A>C uc011lhe.1 - 5 827 c.650T>G c.(649-651)ATA>AGA p.I217R YWHAZ_uc003yjv.2_Missense_Mutation_p.I217R|YWHAZ_uc011lhf.1_Missense_Mutation_p.I217R|YWHAZ_uc003yjw.2_Missense_Mutation_p.I217R|YWHAZ_uc010mbq.2_Missense_Mutation_p.I140R|YWHAZ_uc011lhg.1_Missense_Mutation_p.I97R|YWHAZ_uc010mbr.2_Missense_Mutation_p.I217R|YWHAZ_uc003yjx.2_Missense_Mutation_p.I217R|YWHAZ_uc003yjy.2_Missense_Mutation_p.I217R NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 217 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) TAATTGCATTATTAGCGTGCT 0.333 LRP12 29967 broad.mit.edu 37 8 105503072 105503072 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:105503072T>C uc003yma.2 - 7 2504 c.2409A>G c.(2407-2409)GGA>GGG p.G803G LRP12_uc003ymb.2_Silent_p.G784G|LRP12_uc003ylz.2_Silent_p.G209G NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 803 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TAAGCCCTTGTCCTTGATCTG 0.448 RSPO2 340419 broad.mit.edu 37 8 109001352 109001352 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:109001352C>G uc003yms.2 - 3 873 c.215G>C c.(214-216)GGA>GCA p.G72A RSPO2_uc003ymq.2_Missense_Mutation_p.G5A|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 72 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CAGGCACTCTCCATACTGGCG 0.478 CSMD3 114788 broad.mit.edu 37 8 113694863 113694863 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:113694863A>G uc003ynu.2 - 16 2644 c.2485T>C c.(2485-2487)TTT>CTT p.F829L CSMD3_uc003yns.2_Missense_Mutation_p.F101L|CSMD3_uc003ynt.2_Missense_Mutation_p.F789L|CSMD3_uc011lhx.1_Missense_Mutation_p.F725L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 829 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTATGTCCAAATGCTTTAGAA 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) FLJ43860 389690 broad.mit.edu 37 8 142506543 142506543 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr8:142506543C>A uc003ywi.2 - 2 220 c.139G>T c.(139-141)GAC>TAC p.D47Y FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 47 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGGGCAGAGTCCTGGTGTACC 0.577 FRMPD1 22844 broad.mit.edu 37 9 37745995 37745995 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr9:37745995T>G uc004aag.1 + 16 4010 c.3966T>G c.(3964-3966)AAT>AAG p.N1322K FRMPD1_uc004aah.1_Missense_Mutation_p.N1322K NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1322 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CAGGCATGAATGAGATGGTGG 0.537 ALDH1B1 219 broad.mit.edu 37 9 38397141 38397141 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr9:38397141G>A uc004aay.2 + 2 1508 c.1396G>A c.(1396-1398)GGG>AGG p.G466R NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 466 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) ACTCCAGGCCGGGACCGTGTG 0.592 SEMA4D 10507 broad.mit.edu 37 9 91996119 91996119 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr9:91996119A>T uc004aqo.1 - 16 2161 c.1589T>A c.(1588-1590)GTG>GAG p.V530E SEMA4D_uc011ltm.1_Missense_Mutation_p.V530E|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.V528E NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 530 PSI.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GTGCAGAGCCACGCAGGTCGC 0.677 SEMA4D 10507 broad.mit.edu 37 9 91996153 91996153 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr9:91996153A>G uc004aqo.1 - 16 2127 c.1555T>C c.(1555-1557)TAC>CAC p.Y519H SEMA4D_uc011ltm.1_Missense_Mutation_p.Y519H|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.Y517H NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 519 PSI.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 CAGGCGCAGTAGGGGTCCCGC 0.692 WNK2 65268 broad.mit.edu 37 9 96030035 96030035 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr9:96030035A>G uc004ati.1 + 16 3704 c.3704A>G c.(3703-3705)CAT>CGT p.H1235R WNK2_uc011lud.1_Missense_Mutation_p.H1235R|WNK2_uc004atj.2_Missense_Mutation_p.H1235R|WNK2_uc004atk.2_Missense_Mutation_p.H872R NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1235 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CAGGTGGAGCATGACTTTATC 0.557 OR13C9 286362 broad.mit.edu 37 9 107380453 107380453 + Missense_Mutation SNP T T A rs144981085 TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr9:107380453T>A uc011lvr.1 - 1 33 c.33A>T c.(31-33)GAA>GAT p.E11D NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCAGAAAAAATTCCACCAGAA 0.343 ZBTB26 57684 broad.mit.edu 37 9 125681733 125681733 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr9:125681733G>A uc004bnj.2 - 2 693 c.481C>T c.(481-483)CAG>TAG p.Q161* ZBTB26_uc004bnk.2_Nonsense_Mutation_p.Q161* NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTGAGTCCTGCTTTGGGGAG 0.448 MAGEB4 4115 broad.mit.edu 37 X 30260943 30260943 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:30260943G>A uc004dcb.2 + 1 775 c.691G>A c.(691-693)GAT>AAT p.D231N MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 231 MAGE. ovary(1) 1 GGGGATCTATGATGGAAAGAG 0.473 FAM47A 158724 broad.mit.edu 37 X 34148536 34148536 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:34148536A>G uc004ddg.2 - 1 1893 c.1860T>C c.(1858-1860)GCT>GCC p.A620A NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 620 ovary(4)|central_nervous_system(1) 5 ATTCTTCATCAGCTCCCAGGT 0.438 FAM47C 442444 broad.mit.edu 37 X 37028756 37028756 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:37028756G>A uc004ddl.1 + 1 2287 c.2273G>A c.(2272-2274)CGC>CAC p.R758H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 758 ovary(3) 3 CTTGAGACTCGCGTATCTCAT 0.637 WDR45 11152 broad.mit.edu 37 X 48934088 48934088 + Splice_Site SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:48934088C>T uc004dmk.1 - 6 608 c.436_splice c.e6+1 p.G146_splice PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Splice_Site_p.A96_splice|WDR45_uc004dml.1_Splice_Site_p.G147_splice|WDR45_uc004dmm.1_Splice_Site_p.G111_splice|WDR45_uc010nim.1_Splice_Site_p.G146_splice|WDR45_uc004dmn.1_Splice_Site_p.G37_splice|WDR45_uc004dmo.1_Splice_Site_p.G169_splice|WDR45_uc004dmp.1_Splice_Site_p.G147_splice NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 AGCCCTCTCACCCTTGGGGTT 0.532 AR 367 broad.mit.edu 37 X 66941680 66941680 + Missense_Mutation SNP G G A rs137852572 TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:66941680G>A uc004dwu.1 + 6 3439 c.2324G>A c.(2323-2325)CGC>CAC p.R775H AR_uc004dwv.1_Missense_Mutation_p.R243H NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 774 Ligand-binding.|Interaction with MYST2. R -> H (in AIS and PAIS; almost complete loss of androgen binding).|R -> C (in AIS; loss of androgen binding; frequent mutation). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CCCAGGTACCGCATGCACAAG 0.517 Androgen_Insensitivity_Syndrome FAM155B 27112 broad.mit.edu 37 X 68749751 68749751 + Silent SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:68749751G>C uc004dxk.2 + 3 1419 c.1371G>C c.(1369-1371)GGG>GGC p.G457G NM_015686 NP_056501 O75949 F155B_HUMAN transmembrane protein 28 458 Poly-Gly. integral to membrane ovary(1)|breast(1) 2 GGGGATTGGGGCTGGAGACAC 0.627 AWAT2 158835 broad.mit.edu 37 X 69261763 69261763 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:69261763G>A uc004dxt.1 - 7 903 c.897C>T c.(895-897)ATC>ATT p.I299I NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN wax synthase 2 299 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity 0 ATTTAGCCACGATCTCCTGGC 0.468 GDPD2 54857 broad.mit.edu 37 X 69646220 69646220 + Splice_Site SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:69646220G>C uc004dyh.2 + 6 615 c.364_splice c.e6-1 p.V122_splice GDPD2_uc010nkx.1_Splice_Site_p.V122_splice|GDPD2_uc010nky.1_Splice_Site|GDPD2_uc011mpk.1_Splice_Site_p.V122_splice|GDPD2_uc011mpl.1_Splice_Site_p.V43_splice|GDPD2_uc011mpm.1_Splice_Site_p.V43_splice NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) TGGCCCCCCAGGTGCTGCTGC 0.582 PHKA1 5255 broad.mit.edu 37 X 71932636 71932636 + Silent SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:71932636G>T uc004eax.3 - 2 523 c.222C>A c.(220-222)GCC>GCA p.A74A PHKA1_uc004eay.3_Silent_p.A74A|PHKA1_uc011mqi.1_Silent_p.A74A NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 74 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) CCAATTCATAGGCCTTTGCCT 0.498 ZCCHC13 389874 broad.mit.edu 37 X 73524221 73524221 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:73524221C>T uc004ebs.3 + 1 197 c.120C>T c.(118-120)TCC>TCT p.S40S NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 40 nucleic acid binding|zinc ion binding 0 AATGTGGTTCCACCACCCTAT 0.562 ATRX 546 broad.mit.edu 37 X 76938019 76938019 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:76938019T>G uc004ecp.3 - 9 2961 c.2729A>C c.(2728-2730)AAG>ACG p.K910T ATRX_uc004ecq.3_Missense_Mutation_p.K872T|ATRX_uc004eco.3_Missense_Mutation_p.K695T|ATRX_uc004ecr.2_Missense_Mutation_p.K842T|ATRX_uc010nlx.1_Missense_Mutation_p.K881T|ATRX_uc010nly.1_Missense_Mutation_p.K855T NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 910 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTGCTGCTTCTTAGGAAGTCG 0.408 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome BRWD3 254065 broad.mit.edu 37 X 79955467 79955467 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:79955467T>A uc004edt.2 - 25 3195 c.2932A>T c.(2932-2934)ATG>TTG p.M978L BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.M574L|BRWD3_uc004edp.2_Missense_Mutation_p.M807L|BRWD3_uc004edq.2_Missense_Mutation_p.M574L|BRWD3_uc010nmj.1_Missense_Mutation_p.M574L|BRWD3_uc004edr.2_Missense_Mutation_p.M648L|BRWD3_uc004eds.2_Missense_Mutation_p.M574L|BRWD3_uc004edu.2_Missense_Mutation_p.M648L|BRWD3_uc004edv.2_Missense_Mutation_p.M574L|BRWD3_uc004edw.2_Missense_Mutation_p.M574L|BRWD3_uc004edx.2_Missense_Mutation_p.M574L|BRWD3_uc004edy.2_Missense_Mutation_p.M574L|BRWD3_uc004edz.2_Missense_Mutation_p.M648L|BRWD3_uc004eea.2_Missense_Mutation_p.M648L|BRWD3_uc004eeb.2_Missense_Mutation_p.M574L NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 978 ovary(4) 4 CTGAGATCCATTTTGTTCCAT 0.358 CYLC1 1538 broad.mit.edu 37 X 83129480 83129480 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:83129480C>T uc004eei.1 + 4 1785 c.1764C>T c.(1762-1764)TTC>TTT p.F588F CYLC1_uc004eeh.1_Silent_p.F587F NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 588 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AGACTACATTCAATGAAAAAG 0.408 PABPC5 140886 broad.mit.edu 37 X 90691722 90691722 + Nonsense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:90691722C>A uc004efg.2 + 2 1586 c.1146C>A c.(1144-1146)TGC>TGA p.C382* PABPC5_uc004eff.1_Nonsense_Mutation_p.C218* NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 382 cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 GGCGCAGGTGCTGAGAATAAG 0.493 TCEAL7 56849 broad.mit.edu 37 X 102586597 102586597 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:102586597A>C uc004ekc.1 + 3 479 c.266A>C c.(265-267)AAC>ACC p.N89T NM_152278 NP_689491 Q9BRU2 TCAL7_HUMAN transcription elongation factor A (SII)-like 7 89 negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus upper_aerodigestive_tract(1) 1 CTGCATTCTAACCATAGGCAT 0.065 MID2 11043 broad.mit.edu 37 X 107147196 107147196 + Silent SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:107147196T>G uc004enl.2 + 4 1398 c.825T>G c.(823-825)ACT>ACG p.T275T MID2_uc004enk.2_Silent_p.T275T NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 275 Potential. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 AGGTGAATACTGCTATGCATG 0.438 ODZ1 10178 broad.mit.edu 37 X 123779095 123779095 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:123779095G>T uc004euj.2 - 10 1838 c.1774C>A c.(1774-1776)CCG>ACG p.P592T ODZ1_uc011muj.1_Missense_Mutation_p.P591T|ODZ1_uc010nqy.2_Missense_Mutation_p.P592T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 592 Extracellular (Potential).|EGF-like 3. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGTTCTTCCGGAACGTCACAC 0.532 ARHGAP36 158763 broad.mit.edu 37 X 130218272 130218272 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:130218272T>C uc004evz.2 + 5 984 c.639T>C c.(637-639)TTT>TTC p.F213F ARHGAP36_uc004ewa.2_Silent_p.F201F|ARHGAP36_uc004ewb.2_Silent_p.F182F|ARHGAP36_uc004ewc.2_Silent_p.F77F NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 213 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 AAATTTCCTTTCCAATTGGCC 0.502 FGF13 2258 broad.mit.edu 37 X 138286220 138286220 + Splice_Site SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:138286220C>T uc011mwj.1 - 2 316 c.49_splice c.e2+1 p.V17_splice FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Splice_Site|FGF13_uc011mwk.1_Splice_Site_p.E17_splice NM_001139500 NP_001132972 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 2 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GGCGGGCTTACCCTTAGAAGC 0.622 F9 2158 broad.mit.edu 37 X 138642958 138642958 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:138642958G>T uc004fas.1 + 7 811 c.782G>T c.(781-783)TGG>TTG p.W261L F9_uc004fat.1_Missense_Mutation_p.W223L NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 261 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AATGAAAAATGGATTGTAACT 0.363 CXorf66 347487 broad.mit.edu 37 X 139038690 139038690 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:139038690T>A uc004fbb.2 - 3 473 c.451A>T c.(451-453)AGT>TGT p.S151C NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 151 Ser-rich.|Cytoplasmic (Potential). integral to membrane 0 TTTCCTGCACTGTTTGGTATG 0.413 MAGEC3 139081 broad.mit.edu 37 X 140984913 140984913 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:140984913G>T uc011mwp.1 + 7 1369 c.1369G>T c.(1369-1371)GAT>TAT p.D457Y MAGEC3_uc004fbs.2_Missense_Mutation_p.D159Y|MAGEC3_uc010nsj.2_Missense_Mutation_p.D159Y NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 457 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTATGCCCTGGATGAAAAGGT 0.483 F8 2157 broad.mit.edu 37 X 154194356 154194356 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chrX:154194356T>C uc004fmt.2 - 9 1503 c.1332A>G c.(1330-1332)AAA>AAG p.K444K NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 444 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TAAATCGGACTTTTTTGTACT 0.378 FAS 355 broad.mit.edu 37 10 90773891 90773892 + Frame_Shift_Ins INS - - T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:90773891_90773892insT uc001kfr.2 + 9 1038_1039 c.692_693insT c.(691-693)AAAfs p.K231fs FAS_uc010qna.1_RNA|FAS_uc001kfs.2_3'UTR|FAS_uc001kft.2_Frame_Shift_Ins_p.K210fs|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_3'UTR|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA NM_000043 NP_000034 P25445 TNR6_HUMAN tumor necrosis factor receptor superfamily, 231 Death.|Interaction with HIPK3 (By similarity).|Cytoplasmic (Potential). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding upper_aerodigestive_tract(1)|breast(1) 2 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) GACTTGAGTAAATATATCACCA 0.307 Autoimmune_Lymphoproliferative_syndrome_type_I CDC42BPB 9578 broad.mit.edu 37 14 103430900 103430900 + Frame_Shift_Del DEL C C - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr14:103430900delC uc001ymi.1 - 19 2897 c.2665delG c.(2665-2667)GCCfs p.A889fs CDC42BPB_uc001ymj.1_Frame_Shift_Del_p.A17fs NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 889 Potential. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGCTGCTTGGCCCGGATCTCC 0.637 THBS1 7057 broad.mit.edu 37 15 39874438 39874438 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr15:39874438delG uc001zkh.2 + 3 291 c.112delG c.(112-114)GGGfs p.G38fs NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 38 TSP N-terminal. 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) TGAACTCACCGGGGCCGCCCG 0.612 PIK3R4 30849 broad.mit.edu 37 3 130424447 130424451 + Frame_Shift_Del DEL TCTGC TCTGC - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr3:130424447_130424451delTCTGC uc003enj.2 - 12 3467_3471 c.2886_2890delGCAGA c.(2884-2892)AAGCAGATGfs p.K962fs NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 962_964 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TTTTCCATCATCTGCTTAGCTATTC 0.424 HIST1H1C 3006 broad.mit.edu 37 6 26056324 26056334 + Frame_Shift_Del DEL TGCCTTCTTGT TGCCTTCTTGT - rs141268909 byFrequency TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:26056324_26056334delTGCCTTCTTGT uc003nfw.2 - 1 366_376 c.323_333delACAAGAAGGCA c.(322-333)AACAAGAAGGCAfs p.N108fs NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 108_111 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CCCCGGAGGCTGCCTTCTTGTTGAGTTTAAA 0.559 HECA 51696 broad.mit.edu 37 6 139488008 139488008 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:139488008delG uc003qin.2 + 2 1144 c.859delG c.(859-861)GGCfs p.G287fs NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 287 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CCACTTCAGCGGCCCCCGCTC 0.652 HECA 51696 broad.mit.edu 37 6 139488378 139488378 + Frame_Shift_Del DEL A A - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:139488378delA uc003qin.2 + 2 1514 c.1229delA c.(1228-1230)CAGfs p.Q410fs NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 410 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GTGTTCGAACAGTTCCCACTG 0.527 MLL3 58508 broad.mit.edu 37 7 151845319 151845319 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:151845319delG uc003wla.2 - 52 13912 c.13693delC c.(13693-13695)CAGfs p.Q4565fs MLL3_uc003wkz.2_Frame_Shift_Del_p.Q3683fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.Q723fs|MLL3_uc003wky.2_Frame_Shift_Del_p.Q2129fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4565 FYR N-terminal. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCTTGCATCTGCTGTGGAAGC 0.552 N medulloblastoma MLL3 58508 broad.mit.edu 37 7 151878910 151878910 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr7:151878910delG uc003wla.2 - 36 6254 c.6035delC c.(6034-6036)CCTfs p.P2012fs MLL3_uc003wkz.2_Frame_Shift_Del_p.P1073fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2012 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATCTGCCCTAGGAGATGGTTT 0.473 N medulloblastoma ITPKB 3707 broad.mit.edu 37 1 226924473 226924474 + Frame_Shift_Ins INS - - CTGCGAGGAG TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr1:226924472_226924473C>CCTGCGAGGAG uc010pvo.2 - 1 1027_1028 c.687_688G>CTCCTCGCAGG c.(685-690)caggtgfs p.Q229fs ITPKB_uc001hqh.3_Frame_Shift_Ins_p.Q229fs NM_002221 NP_002212 P27987 IP3KB_HUMAN Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA. 229 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CCTTTCTTCACCTGCGAGGAGC 0.604 TTN 7273 broad.mit.edu 37 2 179396580 179396583 + Frame_Shift_Del DEL TGAG TGAG - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr2:179396579_179396582CTGAG>C uc021vsy.1 - 306 97281_97284 c.97056_97059CTCAG>G c.(97054-97059)actcagfs p.T32352fs MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.T26047fs|TTN_uc021vta.1_Frame_Shift_Del_p.T25980fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T25855fs|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33279 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGATGTCTTCTGAGTTTTTAAAG 0.461 FAT4 79633 broad.mit.edu 37 4 126370525 126370525 + Frame_Shift_Del DEL C C - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr4:126370524_126370524TC>T uc003ifj.4 + 8 8353 c.8353_8353TC>T c.(8353-8355)tccfs p.S2785fs FAT4_uc011cgp.2_Frame_Shift_Del_p.S1083fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.S263fs NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2785 Cadherin 27. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCTGAAAATTCCCCCTTAGG 0.368 EEF1A1 1915 broad.mit.edu 37 6 74229194 74229209 + Frame_Shift_Del DEL TCAGTTTATCCAAGAC TCAGTTTATCCAAGAC - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr6:74229193_74229208TTCAGTTTATCCAAGAC>T uc003phi.3 - 1 1168_1183 c.176_191GTCTTGGATAAACTGAA>A c.(175-192)gtcttggataaactgaaafs p.V59fs EEF1A1_uc003phj.3_Frame_Shift_Del_p.V59fs|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Frame_Shift_Del_p.V59fs|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank NM_001402 NP_001393 P68104 EF1A1_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA. 59 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 ACGCTCAGCTTTCAGTTTATCCAAGACCCAGGCATA 0.444 OREG0003890 type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay FAS 355 broad.mit.edu 37 10 90773892 90773893 + Frame_Shift_Ins INS - - T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr10:90773891_90773892A>AT uc001kfr.3 + 8 1038_1039 c.692_693A>AT c.(691-693)aaafs p.K231fs FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Frame_Shift_Ins_p.K210fs|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_3'UTR|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_3'UTR|FAS_uc009xtp.3_Non-coding_Transcript NM_000043 NP_000034 P25445 TNR6_HUMAN Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA. 231 Death.|Interaction with HIPK3 (By similarity). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) GACTTGAGTAAATATATCACCA 0.307 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653