Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter SRRM1 10250 broad.mit.edu 37 1 24976564 24976564 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:24976564C>G uc001bjm.2 + 5 732 c.508C>G c.(508-510)CGT>GGT p.R170G SRRM1_uc010oel.1_Missense_Mutation_p.R170G|SRRM1_uc009vrh.1_Missense_Mutation_p.R131G|SRRM1_uc009vri.1_Missense_Mutation_p.R87G|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 170 Arg-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GGAGCGGTCTCGTAGCCCAAG 0.363 3 17 --- --- --- --- PASS SFPQ 6421 broad.mit.edu 37 1 35657072 35657072 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:35657072C>A uc001bys.2 - 2 980 c.887G>T c.(886-888)CGA>CTA p.R296L SFPQ_uc001byr.2_5'Flank NM_005066 NP_005057 P23246 SFPQ_HUMAN splicing factor proline/glutamine rich 296 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|protein binding|RNA binding SFPQ/TFE3(6) kidney(4)|soft_tissue(2)|ovary(1)|skin(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CAACCGACATCGCTGTGTGTA 0.403 T TFE3 papillary renal cell 6 99 --- --- --- --- PASS ZMYM4 9202 broad.mit.edu 37 1 35847261 35847261 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:35847261G>T uc001byt.2 + 9 1551 c.1471G>T c.(1471-1473)GGT>TGT p.G491C ZMYM4_uc009vuu.2_Missense_Mutation_p.G459C|ZMYM4_uc001byu.2_Missense_Mutation_p.G167C|ZMYM4_uc009vuv.2_Missense_Mutation_p.G230C NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 491 MYM-type 3. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAACTGTGGGGGTTACTGTTA 0.448 49 117 --- --- --- --- PASS KIF2C 11004 broad.mit.edu 37 1 45226350 45226350 + Missense_Mutation SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:45226350T>G uc001cmg.3 + 16 1774 c.1659T>G c.(1657-1659)ATT>ATG p.I553M KIF2C_uc010olb.1_Missense_Mutation_p.I512M|KIF2C_uc010olc.1_Missense_Mutation_p.I440M|KIF2C_uc001cmh.3_Missense_Mutation_p.I499M NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 553 blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACTCCTTCATTGGGGAGAACT 0.557 11 62 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86307765 86307765 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:86307765G>T uc001dlj.2 - 41 3598 c.3556C>A c.(3556-3558)CCT>ACT p.P1186T COL24A1_uc001dli.2_Missense_Mutation_p.P322T|COL24A1_uc010osd.1_Missense_Mutation_p.P486T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1186 Collagen-like 12. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TCTCCTTTAGGTCCTGGCAAT 0.363 8 74 --- --- --- --- PASS BRDT 676 broad.mit.edu 37 1 92442847 92442847 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:92442847T>C uc001dok.3 + 6 1215 c.866T>C c.(865-867)TTT>TCT p.F289S BRDT_uc001dol.3_Missense_Mutation_p.F289S|BRDT_uc010osz.1_Missense_Mutation_p.F293S|BRDT_uc009wdf.2_Missense_Mutation_p.F216S|BRDT_uc010ota.1_Missense_Mutation_p.F243S|BRDT_uc010otb.1_Missense_Mutation_p.F243S|BRDT_uc001dom.3_Missense_Mutation_p.F289S NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 289 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AAGAAACATTTTTCATATGCA 0.348 14 72 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103385884 103385884 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:103385884C>G uc001dul.2 - 49 4063 c.3745G>C c.(3745-3747)GGT>CGT p.G1249R COL11A1_uc001duk.2_Missense_Mutation_p.G445R|COL11A1_uc001dum.2_Missense_Mutation_p.G1261R|COL11A1_uc001dun.2_Missense_Mutation_p.G1210R|COL11A1_uc009weh.2_Missense_Mutation_p.G1133R NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1249 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) CCAACACCACCAACTGAACCA 0.363 16 163 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103444627 103444627 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:103444627G>C uc001dul.2 - 33 2962 c.2644C>G c.(2644-2646)CGT>GGT p.R882G COL11A1_uc001duk.2_Missense_Mutation_p.R78G|COL11A1_uc001dum.2_Missense_Mutation_p.R894G|COL11A1_uc001dun.2_Missense_Mutation_p.R843G|COL11A1_uc009weh.2_Missense_Mutation_p.R766G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 882 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) GTTGGACCACGCTGACCCCGA 0.363 9 46 --- --- --- --- PASS WDR47 22911 broad.mit.edu 37 1 109538232 109538232 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:109538232A>G uc001dwj.2 - 8 2037 c.1661T>C c.(1660-1662)TTT>TCT p.F554S WDR47_uc001dwl.2_Missense_Mutation_p.F562S|WDR47_uc001dwi.2_Missense_Mutation_p.F555S|WDR47_uc001dwk.2_Missense_Mutation_p.F526S|WDR47_uc010ovf.1_Missense_Mutation_p.F481S NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 554 p.P554R(1) ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TTCCTCCAGAAAAGGTATGTG 0.378 25 232 --- --- --- --- PASS KCNA10 3744 broad.mit.edu 37 1 111060809 111060809 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:111060809G>C uc001dzt.1 - 1 989 c.601C>G c.(601-603)CAG>GAG p.Q201E NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 201 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AGCCAGAACTGACGGTGGATG 0.547 4 79 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118514563 118514563 + Silent SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:118514563G>C uc001ehk.2 - 45 6317 c.6249C>G c.(6247-6249)GTC>GTG p.V2083V NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2083 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTCCAAACTTGACTGATGATG 0.453 13 66 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145528606 145528606 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:145528606T>C uc001eoa.2 + 5 479 c.403T>C c.(403-405)TCT>CCT p.S135P NBPF10_uc001emp.3_Intron|ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.1_Intron|ITGA10_uc009wiw.2_Intron|ITGA10_uc010oyw.1_Missense_Mutation_p.S80P NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 135 FG-GAP 2.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCAGCTCTGTCTTCAG 0.592 23 82 --- --- --- --- PASS MTMR11 10903 broad.mit.edu 37 1 149901065 149901065 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:149901065T>C uc001etl.3 - 17 2337 c.2086A>G c.(2086-2088)ATT>GTT p.I696V SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.I624V NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 696 phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATGCCAGCAATTTCAGTGGGA 0.438 16 129 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156532988 156532988 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:156532988C>G uc001fpf.2 - 8 811 c.736G>C c.(736-738)GCC>CCC p.A246P IQGAP3_uc009wsb.1_Missense_Mutation_p.A203P NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 246 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGTAGACGGCTGCCAGAGGC 0.572 28 167 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157805906 157805906 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:157805906C>G uc001frk.3 - 3 238 c.95G>C c.(94-96)CGC>CCC p.R32P NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 32 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCCTTCACAGCGGTGGAGGCC 0.622 15 57 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158651438 158651438 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:158651438C>A uc001fst.1 - 4 609 c.410G>T c.(409-411)CGC>CTC p.R137L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 137 Spectrin 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCACAGGTGGCGTAGCTCCTC 0.552 19 68 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186277571 186277571 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:186277571C>A uc001gru.3 + 7 2771 c.2720C>A c.(2719-2721)ACT>AAT p.T907N PRG4_uc001grt.3_Missense_Mutation_p.T866N|PRG4_uc009wyl.2_Missense_Mutation_p.T814N|PRG4_uc009wym.2_Missense_Mutation_p.T773N|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 907 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCTGCAGCGACTAAACCTGAA 0.438 20 162 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186303582 186303582 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:186303582A>G uc001grv.2 - 36 5354 c.5057T>C c.(5056-5058)ATG>ACG p.M1686T NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1686 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ATTTCCAGCCATAGCTGCAGC 0.483 T NTRK1 papillary thyroid 13 178 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197074167 197074167 + Missense_Mutation SNP C A A rs143092798 TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:197074167C>A uc001gtu.2 - 18 4471 c.4214G>T c.(4213-4215)CGT>CTT p.R1405L ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1405 IQ 2. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TAAATAAGCACGCCAATGCCT 0.313 20 72 --- --- --- --- PASS PLEKHA6 22874 broad.mit.edu 37 1 204226822 204226822 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:204226822C>A uc001hau.2 - 9 1500 c.1183G>T c.(1183-1185)GCC>TCC p.A395S PLEKHA6_uc009xaw.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xax.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xay.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xaz.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xba.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xbb.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xbc.1_Missense_Mutation_p.A19S NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 395 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TTGCGGAAGGCATGGCGCTTG 0.662 10 25 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216262426 216262426 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:216262426C>A uc001hku.1 - 23 5201 c.4814G>T c.(4813-4815)GGA>GTA p.G1605V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1605 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATGCCATTTTCCATCACTATA 0.338 HNSCC(13;0.011) 6 130 --- --- --- --- PASS WDR26 80232 broad.mit.edu 37 1 224577560 224577560 + Nonsense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:224577560C>A uc001hop.3 - 14 1888 c.1522G>T c.(1522-1524)GAA>TAA p.E508* WDR26_uc001hoq.3_Nonsense_Mutation_p.E492*|WDR26_uc010pvh.1_Nonsense_Mutation_p.E215* NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 655 cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) CTACTGCATTCCTCTGAATGA 0.413 6 92 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769664 247769664 + Nonsense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:247769664C>A uc010pyz.1 + 1 777 c.777C>A c.(775-777)TAC>TAA p.Y259* NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 259 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTACGTGTACCTGCAACCTA 0.458 17 55 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248367022 248367022 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:248367022A>G uc010pzg.1 + 1 653 c.653A>G c.(652-654)TAT>TGT p.Y218C NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTGCTTCCTATGCTCGAGTT 0.423 71 289 --- --- --- --- PASS OR2T12 127064 broad.mit.edu 37 1 248457927 248457927 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:248457927C>A uc010pzj.1 - 1 954 c.954G>T c.(952-954)AGG>AGT p.R318S NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 318 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATCATCTTGACCTGTGGGCCT 0.413 39 188 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525564 248525564 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:248525564G>A uc001ieh.1 + 1 682 c.682G>A c.(682-684)GAG>AAG p.E228K NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 228 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCACTCTATGAGATTTTCAT 0.478 30 202 --- --- --- --- PASS RNF144A 9781 broad.mit.edu 37 2 7137104 7137104 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:7137104C>T uc002qys.2 + 3 489 c.47C>T c.(46-48)CCG>CTG p.P16L RNF144A_uc002qyt.2_Intron NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 16 Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) GCCCTCGACCCGCTGGTGTCT 0.567 10 46 --- --- --- --- PASS ODC1 4953 broad.mit.edu 37 2 10580917 10580917 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:10580917G>T uc010exg.1 - 12 1753 c.1319C>A c.(1318-1320)TCT>TAT p.S440Y ODC1_uc002ran.1_Missense_Mutation_p.S126Y|ODC1_uc002rao.1_Missense_Mutation_p.S440Y|ODC1_uc010yjd.1_Missense_Mutation_p.S310Y NM_002539 NP_002530 P11926 DCOR_HUMAN ornithine decarboxylase 1 440 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) CCAGGCACAAGACACAGGCAG 0.502 9 152 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21235030 21235030 + Missense_Mutation SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:21235030T>G uc002red.2 - 26 4838 c.4710A>C c.(4708-4710)TTA>TTC p.L1570F NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1570 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTCAGATTTTAAAGTCAGCT 0.418 5 85 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24951338 24951338 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:24951338T>C uc002rfk.2 + 14 3137 c.2879T>C c.(2878-2880)CTT>CCT p.L960P NCOA1_uc010eye.2_Missense_Mutation_p.L960P|NCOA1_uc002rfi.2_Missense_Mutation_p.L809P|NCOA1_uc002rfj.2_Missense_Mutation_p.L960P|NCOA1_uc002rfl.2_Missense_Mutation_p.L960P NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 960 Interaction with CREBBP. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTGACAAACTTGTTCAGGTA 0.363 T PAX3 alveolar rhadomyosarcoma 9 38 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33505114 33505114 + Nonsense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:33505114G>T uc002ros.2 + 19 3004 c.3004G>T c.(3004-3006)GAA>TAA p.E1002* LTBP1_uc002rot.2_Nonsense_Mutation_p.E676*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E675*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E622*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E675*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E622* NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1001 EGF-like 7; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGATATTGATGAATGTTTGAA 0.428 13 80 --- --- --- --- PASS STRN 6801 broad.mit.edu 37 2 37096816 37096816 + Missense_Mutation SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:37096816T>G uc002rpn.2 - 11 1389 c.1380A>C c.(1378-1380)AGA>AGC p.R460S STRN_uc010ezx.2_Missense_Mutation_p.R423S NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 460 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) CAAAGTGACTTCTCAATGTAA 0.368 9 52 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50780062 50780062 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:50780062C>G uc010fbq.2 - 9 3019 c.1542G>C c.(1540-1542)GAG>GAC p.E514D NRXN1_uc002rxb.3_Missense_Mutation_p.E146D|NRXN1_uc002rxe.3_Missense_Mutation_p.E474D|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTGCAACATTCTCACATTTAA 0.383 8 137 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50850672 50850672 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:50850672C>A uc010fbq.2 - 6 2490 c.1013G>T c.(1012-1014)AGT>ATT p.S338I NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.S305I|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TATTTCATCACTGCTGCTTTG 0.398 29 114 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71590297 71590297 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:71590297A>G uc002shx.2 + 4 1713 c.1394A>G c.(1393-1395)AAT>AGT p.N465S ZNF638_uc010fec.2_Missense_Mutation_p.N571S|ZNF638_uc010yqw.1_Missense_Mutation_p.N44S|ZNF638_uc002shw.2_Missense_Mutation_p.N465S|ZNF638_uc002shy.2_Missense_Mutation_p.N465S|ZNF638_uc002shz.2_Missense_Mutation_p.N465S|ZNF638_uc002sia.2_Missense_Mutation_p.N465S|ZNF638_uc002sib.1_Missense_Mutation_p.N465S|ZNF638_uc010fed.2_5'Flank NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 465 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 CCTGATTGGAATCCTGAGATC 0.264 8 40 --- --- --- --- PASS FBXO41 150726 broad.mit.edu 37 2 73498004 73498004 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:73498004G>A uc002sjb.1 - 1 40 c.40C>T c.(40-42)CTT>TTT p.L14F NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 Error:Variant_position_missing_in_Q8TF61_after_alignment intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 CTGTGATCAAGGTCACAGACC 0.532 16 121 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746093 77746093 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:77746093A>G uc002snr.2 - 3 1317 c.902T>C c.(901-903)ATA>ACA p.I301T LRRTM4_uc002snq.2_Missense_Mutation_p.I301T|LRRTM4_uc002sns.2_Missense_Mutation_p.I301T|LRRTM4_uc002snt.2_Missense_Mutation_p.I302T NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 301 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TATTAATGATATCCACGCATT 0.368 6 29 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79386511 79386511 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:79386511C>A uc002sod.1 - 1 276 c.21G>T c.(19-21)CTG>CTT p.L7L REG3A_uc002soe.1_Silent_p.L7L|REG3A_uc002sof.1_Silent_p.L7L NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 7 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ATACACTGGGCAGGGCCATGG 0.532 8 60 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89339924 89339924 + RNA SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:89339924C>A uc010ytr.1 - 64 c.5935G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. CTGCTAATACCCTGACTCGCC 0.522 38 114 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89459297 89459297 + RNA SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:89459297T>C uc010ytr.1 - 29 c.3897A>G uc002stl.2_Intron Parts of antibodies, mostly variable regions. AGGCTATTGATGGTGAGGGTG 0.483 40 215 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89513000 89513000 + RNA SNP T A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:89513000T>A uc010ytr.1 - 23 c.2888A>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. CCAGATCCACTGCCACTGAAC 0.483 32 154 --- --- --- --- PASS EPC2 26122 broad.mit.edu 37 2 149519363 149519363 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:149519363G>C uc010zbt.1 + 5 706 c.679G>C c.(679-681)GAT>CAT p.D227H NM_015630 NP_056445 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 227 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1)|breast(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0516) TCGTAAGAATGATGAAGCCTC 0.294 4 12 --- --- --- --- PASS GPD2 2820 broad.mit.edu 37 2 157425449 157425449 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:157425449G>C uc002tzf.3 + 10 1638 c.1278G>C c.(1276-1278)GAG>GAC p.E426D GPD2_uc010zch.1_Missense_Mutation_p.E199D|GPD2_uc002tzd.3_Missense_Mutation_p.E426D|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 426 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 ATATCAGTGAGAGTGGCCTTA 0.323 12 227 --- --- --- --- PASS GALNT5 11227 broad.mit.edu 37 2 158157214 158157214 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:158157214G>C uc002tzg.2 + 7 2397 c.2142G>C c.(2140-2142)GAG>GAC p.E714D GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 714 Catalytic subdomain B.|Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 GTGAAATTGAGATCATTCCCT 0.438 7 140 --- --- --- --- PASS ACVR1C 130399 broad.mit.edu 37 2 158406771 158406771 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:158406771G>A uc002tzk.3 - 4 921 c.678C>T c.(676-678)TCC>TCT p.S226S ACVR1C_uc002tzl.3_Silent_p.S146S|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.S176S NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 226 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 TTTCATCTCTGGAGGAGAATA 0.448 21 129 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 166032861 166032861 + Missense_Mutation SNP C T T rs139769668 byFrequency TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:166032861C>T uc002ucx.2 - 3 536 c.44G>A c.(43-45)CGC>CAC p.R15H SCN3A_uc002ucy.2_Missense_Mutation_p.R15H|SCN3A_uc002ucz.2_Missense_Mutation_p.R15H NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 15 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AGTAAAAAGGCGGAAGCTTTC 0.428 33 85 --- --- --- --- PASS RAPGEF4 11069 broad.mit.edu 37 2 173916488 173916488 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:173916488G>A uc002uhv.3 + 31 3216 c.3029G>A c.(3028-3030)CGA>CAA p.R1010Q RAPGEF4_uc002uhw.3_Missense_Mutation_p.R866Q NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 1010 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) GAGCCTCGTCGACCATAGACA 0.403 3 63 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098944 178098944 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:178098944C>G uc002ulh.3 - 2 656 c.101G>C c.(100-102)CGA>CCA p.R34P NFE2L2_uc002ulg.3_Missense_Mutation_p.R18P|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18P|NFE2L2_uc002uli.3_Missense_Mutation_p.R18P|NFE2L2_uc010fra.2_Missense_Mutation_p.R18P|NFE2L2_uc010frb.2_Missense_Mutation_p.R18P NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAATACTTCTCGACTTACTCC 0.373 Mis NSCLC|HNSCC HNSCC(56;0.16) 17 47 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179442158 179442158 + Silent SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:179442158G>T uc010zfg.1 - 273 61424 c.61200C>A c.(61198-61200)GCC>GCA p.A20400A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A14095A|TTN_uc010zfi.1_Silent_p.A14028A|TTN_uc010zfj.1_Silent_p.A13903A|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21327 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) GAATGCTAATGGCATTCAAAA 0.393 16 48 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179477625 179477625 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:179477625G>T uc010zfg.1 - 214 42343 c.42119C>A c.(42118-42120)ACT>AAT p.T14040N uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T7735N|TTN_uc010zfi.1_Missense_Mutation_p.T7668N|TTN_uc010zfj.1_Missense_Mutation_p.T7543N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14967 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) CAAGTGCTGAGTGGTGGGAAC 0.507 19 41 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179595911 179595911 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:179595911C>G uc010zfg.1 - 57 13973 c.13749G>C c.(13747-13749)GAG>GAC p.E4583D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1244D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5510 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) ACACAGCTTCCTCGGTGATTG 0.448 79 247 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801788 185801788 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:185801788C>A uc002uph.2 + 4 2259 c.1665C>A c.(1663-1665)ATC>ATA p.I555I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 555 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CCTGTAAGATCAGAGAAACAG 0.328 15 44 --- --- --- --- PASS ITGAV 3685 broad.mit.edu 37 2 187532403 187532403 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:187532403C>G uc002upq.2 + 24 2609 c.2333C>G c.(2332-2334)TCG>TGG p.S778W ITGAV_uc010frs.2_Missense_Mutation_p.S742W|ITGAV_uc010zfv.1_Missense_Mutation_p.S732W NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 778 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TTTAGAGTCTCGAGTCCTGAT 0.383 9 86 --- --- --- --- PASS PMS1 5378 broad.mit.edu 37 2 190719454 190719454 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:190719454G>C uc002urh.3 + 9 1985 c.1456G>C c.(1456-1458)GGT>CGT p.G486R PMS1_uc010zga.1_Missense_Mutation_p.G447R|PMS1_uc010zgb.1_Missense_Mutation_p.G425R|PMS1_uc002urk.3_Missense_Mutation_p.G447R|PMS1_uc002uri.3_Missense_Mutation_p.G486R|PMS1_uc010zgc.1_Missense_Mutation_p.G310R|PMS1_uc010zgd.1_Missense_Mutation_p.G310R|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.G447R|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.G271R|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.G154R NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 486 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GGAAGAAGCAGGTCTTGAAAA 0.363 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 22 44 --- --- --- --- PASS DYTN 391475 broad.mit.edu 37 2 207557925 207557925 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:207557925C>A uc002vbr.1 - 9 1071 c.954G>T c.(952-954)AAG>AAT p.K318N NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 318 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GAGGCACACCCTTTGGATTCA 0.582 12 23 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209215512 209215512 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:209215512G>T uc002vcz.2 + 37 5610 c.5452G>T c.(5452-5454)GCC>TCC p.A1818S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1818 PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 AGATGCTAATGCCAAGTTTTA 0.418 25 84 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211469926 211469926 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr2:211469926C>T uc002vee.3 + 17 2069 c.1937C>T c.(1936-1938)ACT>ATT p.T646I CPS1_uc010fur.2_Missense_Mutation_p.T652I|CPS1_uc010fus.2_Missense_Mutation_p.T195I NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 646 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AATTGTGTCACTGTCTGTAAC 0.408 8 75 --- --- --- --- PASS HRH1 3269 broad.mit.edu 37 3 11301218 11301218 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:11301218G>T uc010hdr.2 + 2 837 c.495G>T c.(493-495)TGG>TGT p.W165C HRH1_uc010hds.2_Missense_Mutation_p.W165C|HRH1_uc010hdt.2_Missense_Mutation_p.W165C|HRH1_uc003bwb.3_Missense_Mutation_p.W165C NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 165 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TTCTAGGCTGGAATCACTTCA 0.522 12 70 --- --- --- --- PASS ABHD5 51099 broad.mit.edu 37 3 43759279 43759279 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:43759279G>C uc003cmx.2 + 6 1000 c.890G>C c.(889-891)CGA>CCA p.R297P NM_016006 NP_057090 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 297 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity ovary(1) 1 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TTTGGCGCCCGATCCTGCATA 0.443 23 80 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64644325 64644325 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:64644325G>T uc003dmg.2 - 4 854 c.822C>A c.(820-822)GAC>GAA p.D274E ADAMTS9_uc011bfo.1_Missense_Mutation_p.D274E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D103E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D274E NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 274 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTCTTGTGTTGTCCGTCTTAT 0.438 37 152 --- --- --- --- PASS HTR1F 3355 broad.mit.edu 37 3 88040159 88040159 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:88040159A>G uc003dqr.2 + 2 418 c.260A>G c.(259-261)GAG>GGG p.E87G NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 87 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) ATTGTGAGAGAGAGCTGGATT 0.463 5 101 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96533584 96533584 + Silent SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:96533584G>T uc010how.1 + 1 160 c.117G>T c.(115-117)GGG>GGT p.G39G EPHA6_uc003drp.1_Silent_p.G39G NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a Error:Variant_position_missing_in_Q9UF33_after_alignment integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTGTTCCCGGGACCTCGCGCA 0.637 13 14 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806662 97806662 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:97806662A>G uc011bgs.1 + 1 646 c.646A>G c.(646-648)ATC>GTC p.I216V NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTTAATGACTATCATAATCTC 0.353 3 30 --- --- --- --- PASS GPR15 2838 broad.mit.edu 37 3 98251900 98251900 + Silent SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:98251900C>G uc011bgy.1 + 1 1023 c.1023C>G c.(1021-1023)CTC>CTG p.L341L NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 341 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CTAAGGCTCTCTCCACCTTCA 0.493 18 117 --- --- --- --- PASS CEP97 79598 broad.mit.edu 37 3 101477150 101477150 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:101477150C>G uc003dvk.1 + 9 1727 c.1700C>G c.(1699-1701)GCC>GGC p.A567G CEP97_uc010hpm.1_Missense_Mutation_p.A533G|CEP97_uc011bhf.1_Missense_Mutation_p.A508G|CEP97_uc003dvl.1_Missense_Mutation_p.A263G|CEP97_uc003dvm.1_Missense_Mutation_p.A405G NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 567 IQ.|CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 AAGCTTCAGGCCTGTTGGCGG 0.463 8 148 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107435501 107435501 + Silent SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:107435501T>G uc010hpr.2 + 5 537 c.210T>G c.(208-210)ACT>ACG p.T70T BBX_uc003dwk.3_Silent_p.T70T|BBX_uc003dwl.3_Silent_p.T70T|BBX_uc010hps.1_Silent_p.T91T|BBX_uc003dwm.3_Silent_p.T70T NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) TTGGTGAAACTGAAGATGATG 0.433 24 81 --- --- --- --- PASS HHLA2 11148 broad.mit.edu 37 3 108072395 108072395 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:108072395C>T uc003dwy.3 + 4 353 c.186C>T c.(184-186)CAC>CAT p.H62H HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Silent_p.H62H|HHLA2_uc003dwz.2_Silent_p.H62H NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 62 Ig-like V-type 1. integral to membrane ovary(1) 1 TCGTAATACACTGGAAGTATC 0.388 9 54 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121208002 121208002 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:121208002A>G uc003eee.3 - 16 3905 c.3776T>C c.(3775-3777)ATA>ACA p.I1259T POLQ_uc003eed.2_Missense_Mutation_p.I431T NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1259 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AGTTCTGCTTATATCATCTCC 0.343 DNA_polymerases_(catalytic_subunits) 7 238 --- --- --- --- PASS NPHP3 27031 broad.mit.edu 37 3 132432080 132432080 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:132432080G>A uc003epe.1 - 6 1085 c.1008C>T c.(1006-1008)TTC>TTT p.F336F NPHP3_uc003epf.1_Silent_p.F91F NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 336 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 AAACAGCATGGAAAAAATATC 0.269 9 26 --- --- --- --- PASS C3orf72 401089 broad.mit.edu 37 3 138668461 138668461 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:138668461A>T uc003esx.1 + 2 331 c.200A>T c.(199-201)CAT>CTT p.H67L FOXL2_uc003esw.2_5'Flank|C3orf72_uc011bmr.1_5'UTR NM_001040061 NP_001035150 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 67 0 GCTGTCCGGCATTCGAAGGCT 0.572 3 71 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140285003 140285003 + Nonsense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:140285003G>T uc003etn.2 + 17 2966 c.2776G>T c.(2776-2778)GAG>TAG p.E926* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 926 Glu-rich (highly acidic).|Cytoplasmic (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CGAAGAGGAGGAGGAGGAGGA 0.602 HNSCC(16;0.037) 6 42 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164758839 164758839 + Missense_Mutation SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:164758839T>G uc003fei.2 - 18 2110 c.2048A>C c.(2047-2049)AAA>ACA p.K683T NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 683 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCTTGATGATTTAACCAAAAG 0.348 HNSCC(35;0.089) 27 209 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906740 164906740 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:164906740G>T uc003fej.3 - 2 2323 c.1879C>A c.(1879-1881)CCT>ACT p.P627T SLITRK3_uc003fek.2_Missense_Mutation_p.P627T NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 627 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GAATCTCCAGGCTGGGCTGGG 0.547 HNSCC(40;0.11) 7 35 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167016134 167016134 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:167016134C>G uc003fep.2 - 18 2161 c.1838G>C c.(1837-1839)CGT>CCT p.R613P ZBBX_uc011bpc.1_Missense_Mutation_p.R613P|ZBBX_uc003feq.2_Missense_Mutation_p.R584P NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 613 intracellular zinc ion binding ovary(2) 2 GCATTCTAAACGATGAGAAGG 0.338 10 144 --- --- --- --- PASS NAALADL2 254827 broad.mit.edu 37 3 175165022 175165022 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:175165022A>T uc003fit.2 + 6 1183 c.1096A>T c.(1096-1098)AGT>TGT p.S366C NAALADL2_uc003fiu.1_Missense_Mutation_p.S359C|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_Translation_Start_Site NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 366 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TACAGATGAAAGTTTTAGACA 0.353 3 38 --- --- --- --- PASS LSG1 55341 broad.mit.edu 37 3 194365336 194365336 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:194365336A>G uc003fui.2 - 13 2078 c.1763T>C c.(1762-1764)ATT>ACT p.I588T NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 588 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) GATATTTTCAATCTGCTTTGC 0.323 5 65 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196613059 196613059 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr3:196613059A>T uc003fwz.3 + 2 1256 c.1007A>T c.(1006-1008)AAG>ATG p.K336M SENP5_uc011bty.1_Missense_Mutation_p.K336M NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 336 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TTCTTGGGCAAGGAGCTTAGT 0.507 15 102 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52863965 52863965 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr4:52863965T>C uc003gzi.2 - 3 818 c.805A>G c.(805-807)ATT>GTT p.I269V NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 269 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GATTCAGAAATAAAATTTTGA 0.373 63 139 --- --- --- --- PASS PKD2 5311 broad.mit.edu 37 4 88973215 88973215 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr4:88973215G>T uc003hre.2 + 7 1687 c.1621G>T c.(1621-1623)GAT>TAT p.D541Y PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 541 Extracellular (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GTTTCTGGAAGATCAAAATAC 0.343 9 58 --- --- --- --- PASS MIR297 100126354 broad.mit.edu 37 4 111781746 111781746 + RNA SNP G T T rs113258805 TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr4:111781746G>T hsa-mir-297|MI0005775 - c.58G>T 0 CTTGATATATGAGtacataat 0.144 11 91 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5463179 5463179 + Silent SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:5463179G>T uc003jdm.3 + 13 3954 c.3732G>T c.(3730-3732)TCG>TCT p.S1244S NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1244 ovary(1)|central_nervous_system(1) 2 ATGATTATTCGTTAAAAAATA 0.388 3 33 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21752268 21752268 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:21752268C>G uc010iuc.2 - 12 2421 c.1963G>C c.(1963-1965)GAC>CAC p.D655H CDH12_uc011cno.1_Missense_Mutation_p.D615H|CDH12_uc003jgk.2_Missense_Mutation_p.D655H|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 655 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ATGACGTTGTCTCTGATGTCT 0.453 HNSCC(59;0.17) 11 80 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33616178 33616178 + Splice_Site SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:33616178C>A uc003jia.1 - 15 2307 c.2144_splice c.e15-1 p.G715_splice ADAMTS12_uc010iuq.1_Splice_Site_p.G630_splice NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCAACATAACCTAAAGAGAGA 0.473 HNSCC(64;0.19) 6 49 --- --- --- --- PASS RICTOR 253260 broad.mit.edu 37 5 38963107 38963107 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:38963107G>A uc003jlp.2 - 17 1461 c.1437C>T c.(1435-1437)TTC>TTT p.F479F RICTOR_uc003jlo.2_Silent_p.F479F|RICTOR_uc010ivf.2_Silent_p.F194F NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 479 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TCATTTCATGGAAGCGTTTTA 0.383 4 65 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40936549 40936549 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:40936549C>T uc003jmh.2 + 5 504 c.390C>T c.(388-390)ATC>ATT p.I130I C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 130 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) CCTGTGATATCGATAAACCTC 0.413 12 36 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41049530 41049530 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:41049530C>A uc003jmj.3 - 14 1843 c.1353G>T c.(1351-1353)TGG>TGT p.W451C HEATR7B2_uc003jmi.3_Missense_Mutation_p.W6C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 451 binding ovary(6)|central_nervous_system(2) 8 GGATCCTTGGCCATAGCACCT 0.443 4 35 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41049531 41049531 + Nonsense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:41049531C>T uc003jmj.3 - 14 1842 c.1352G>A c.(1351-1353)TGG>TAG p.W451* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.W6* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 451 binding ovary(6)|central_nervous_system(2) 8 GATCCTTGGCCATAGCACCTG 0.438 4 35 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 120021651 120021651 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:120021651G>A uc003ksq.2 + 2 325 c.162G>A c.(160-162)GTG>GTA p.V54V PRR16_uc003ksp.2_Silent_p.V31V|PRR16_uc003ksr.2_5'UTR NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 54 Potential. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCCACTAGGTGGTTGACCAGA 0.438 11 54 --- --- --- --- PASS HSPA4 3308 broad.mit.edu 37 5 132406080 132406080 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:132406080G>A uc003kyj.2 + 4 602 c.321G>A c.(319-321)GAG>GAA p.E107E NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 107 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATATATGGAGGAAGAGCGAA 0.408 25 77 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170598227 170598227 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr5:170598227A>T uc003mba.2 + 16 1818 c.1802A>T c.(1801-1803)TAC>TTC p.Y601F RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003mbb.2_Intron NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 601 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACCTTAAATACTGGGGAAGA 0.303 T TRD@ ALL 24 67 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7575021 7575021 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:7575021G>A uc003mxp.1 + 17 2708 c.2429G>A c.(2428-2430)GGA>GAA p.G810E DSP_uc003mxq.1_Missense_Mutation_p.G810E NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 810 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACCGCTGTGGACTGAAGGTA 0.438 10 71 --- --- --- --- PASS HIST1H2AG 8969 broad.mit.edu 37 6 27101012 27101012 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:27101012G>A uc003niw.2 + 1 196 c.162G>A c.(160-162)GCG>GCA p.A54A HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 54 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 ATCTGGCAGCGGTGCTGGAGT 0.687 10 51 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28294228 28294228 + Silent SNP T A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:28294228T>A uc003nla.2 - 4 1336 c.936A>T c.(934-936)CGA>CGT p.R312R ZNF323_uc003nld.2_Silent_p.R312R|ZNF323_uc010jra.2_Silent_p.R312R|ZNF323_uc003nlb.2_Silent_p.R153R|ZNF323_uc010jrb.2_Silent_p.R153R|ZNF323_uc003nlc.2_Silent_p.R312R NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 312 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TTCTTCTGTGTCGAGTGAGGC 0.502 33 164 --- --- --- --- PASS MSH5 4439 broad.mit.edu 37 6 31721345 31721345 + Missense_Mutation SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:31721345T>G uc003nwv.1 + 12 1032 c.953T>G c.(952-954)CTG>CGG p.L318R MSH5_uc003nwt.1_Missense_Mutation_p.L335R|MSH5_uc003nwu.1_Missense_Mutation_p.L318R|MSH5_uc003nww.1_Missense_Mutation_p.L318R|MSH5_uc003nwx.1_Missense_Mutation_p.L335R|MSH5_uc011dof.1_Missense_Mutation_p.L17R|MSH5_uc003nwy.1_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 318 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 TGACTGTAGCTGATTCTGAAA 0.512 Direct_reversal_of_damage|MMR 9 55 --- --- --- --- PASS SYNGAP1 8831 broad.mit.edu 37 6 33405912 33405912 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:33405912C>T uc011dri.1 + 8 1425 c.1230C>T c.(1228-1230)AGC>AGT p.S410S SYNGAP1_uc003oeo.1_Silent_p.S395S|SYNGAP1_uc010juy.2_Silent_p.S395S|SYNGAP1_uc010juz.2_Silent_p.S122S NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 410 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 AGACAATGAGCATCTTGCCCA 0.577 20 169 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38843455 38843455 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:38843455G>T uc003ooe.1 + 51 7658 c.7058G>T c.(7057-7059)GGC>GTC p.G2353V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTTGTGTTTGGCCTAATGTGG 0.408 6 83 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39835505 39835505 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:39835505G>T uc003oow.2 + 6 804 c.648G>T c.(646-648)AAG>AAT p.K216N DAAM2_uc010jxc.2_Missense_Mutation_p.K216N|DAAM2_uc003oox.2_Missense_Mutation_p.K216N NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 216 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GCAAGACCAAGGTGGCTGTGC 0.592 8 29 --- --- --- --- PASS FAM135A 57579 broad.mit.edu 37 6 71185225 71185225 + Silent SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:71185225A>G uc003pfj.2 + 4 403 c.270A>G c.(268-270)AAA>AAG p.K90K FAM135A_uc003pfi.2_Silent_p.K90K|FAM135A_uc003pfh.2_Silent_p.K47K|FAM135A_uc003pfk.2_Silent_p.K90K|FAM135A_uc003pfl.2_5'UTR NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 90 central_nervous_system(1) 1 TGATCTTCAAAGTAAAAATGC 0.269 3 29 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90460071 90460071 + Splice_Site SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:90460071A>G uc003pnn.1 - 24 3522 c.3406_splice c.e24+1 p.G1136_splice NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCTTAACCCTACCTTCCTTAA 0.403 12 108 --- --- --- --- PASS FIG4 9896 broad.mit.edu 37 6 110059612 110059612 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:110059612G>A uc003ptt.2 + 7 946 c.731G>A c.(730-732)CGT>CAT p.R244H FIG4_uc011eau.1_Intron NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 244 SAC. cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) ACTGTGCATCGTGACTGGCTT 0.333 17 97 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117631403 117631403 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:117631403T>C uc003pxp.1 - 40 6474 c.6275A>G c.(6274-6276)TAT>TGT p.Y2092C ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2092 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGGACTGGTATAGTCTTTCAC 0.378 T GOPC|ROS1 glioblastoma|NSCLC 22 119 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123539799 123539799 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:123539799C>T uc003pzj.1 - 41 2159 c.2137G>A c.(2137-2139)GGA>AGA p.G713R TRDN_uc010kem.1_Missense_Mutation_p.G214R NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 713 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GAGCTCTCTCCAGGGCGGTCT 0.448 5 36 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130381241 130381241 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:130381241G>T uc003qbt.2 + 10 990 c.820G>T c.(820-822)GAT>TAT p.D274Y L3MBTL3_uc003qbu.2_Missense_Mutation_p.D249Y NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 274 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AGAAGGCGTGGATCCTGAGCA 0.393 6 51 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151939235 151939235 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:151939235A>G uc003qol.2 + 11 2190 c.2101A>G c.(2101-2103)ACT>GCT p.T701A NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 701 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AGATGTGACTACTGGGCAAGA 0.448 9 77 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152541993 152541993 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:152541993C>A uc010kiw.2 - 119 22447 c.21845G>T c.(21844-21846)TGG>TTG p.W7282L SYNE1_uc010kiv.2_Missense_Mutation_p.W1806L|SYNE1_uc003qos.3_Missense_Mutation_p.W1806L|SYNE1_uc003qot.3_Missense_Mutation_p.W7211L|SYNE1_uc003qou.3_Missense_Mutation_p.W7282L|SYNE1_uc003qor.3_Missense_Mutation_p.W182L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7282 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCTTGAATCCATGTGGCAAC 0.473 HNSCC(10;0.0054) 19 173 --- --- --- --- PASS C6orf118 168090 broad.mit.edu 37 6 165715151 165715151 + Silent SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr6:165715151A>G uc003qum.3 - 2 696 c.660T>C c.(658-660)CGT>CGC p.R220R C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 220 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCTTCTGGAAACGCAGGAACA 0.617 5 80 --- --- --- --- PASS MIR550-1 693133 broad.mit.edu 37 7 30329469 30329469 + RNA SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:30329469G>T hsa-mir-550-1|MI0003600 + c.60G>T ZNRF2_uc003tat.2_Intron 0 TTGTAAGATAGTGTCTTACTC 0.478 8 130 --- --- --- --- PASS RABGEF1 27342 broad.mit.edu 37 7 66273905 66273905 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:66273905C>T uc011kee.1 + 9 1316 c.1152C>T c.(1150-1152)GAC>GAT p.D384D RABGEF1_uc003tvf.2_Silent_p.D243D|RABGEF1_uc003tvg.2_Silent_p.D178D|RABGEF1_uc010lag.2_Silent_p.D370D|RABGEF1_uc003tvh.2_Silent_p.D370D|RABGEF1_uc003tvi.2_Silent_p.D204D NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 587 VPS9. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 AGAAGCTAGACGCCCAGTCTT 0.448 9 70 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 71175784 71175784 + Silent SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:71175784T>G uc003tvy.2 + 10 1539 c.1539T>G c.(1537-1539)GGT>GGG p.G513G WBSCR17_uc003tvz.2_Silent_p.G212G NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 513 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGCACTTGGGTGCCCTGGGGA 0.622 10 115 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88956697 88956697 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:88956697G>A uc011khi.1 + 3 827 c.289G>A c.(289-291)GTA>ATA p.V97I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 97 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGCTCGAAATGTAGCTTCTAA 0.328 HNSCC(36;0.09) 18 73 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88966152 88966152 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:88966152C>A uc011khi.1 + 4 4394 c.3856C>A c.(3856-3858)CTG>ATG p.L1286M NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1286 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACTTCAGCCTCTGCCCCCTAC 0.463 HNSCC(36;0.09) 12 225 --- --- --- --- PASS ASNS 440 broad.mit.edu 37 7 97488644 97488644 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:97488644T>C uc003uot.3 - 5 1060 c.554A>G c.(553-555)TAT>TGT p.Y185C ASNS_uc011kin.1_Missense_Mutation_p.Y102C|ASNS_uc003uou.3_Missense_Mutation_p.Y185C|ASNS_uc003uov.3_Missense_Mutation_p.Y185C|ASNS_uc011kio.1_Missense_Mutation_p.Y164C|ASNS_uc003uow.3_Missense_Mutation_p.Y164C|ASNS_uc003uox.3_Missense_Mutation_p.Y102C NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 185 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAAAACTTCATAGTGTCCAGG 0.403 80 95 --- --- --- --- PASS ACTL6B 51412 broad.mit.edu 37 7 100246221 100246221 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:100246221C>T uc003uvy.2 - 7 734 c.627G>A c.(625-627)GAG>GAA p.E209E ACTL6B_uc003uvx.1_5'UTR|ACTL6B_uc003uvz.2_RNA NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 209 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CAATGGCCATCTCCTGGAACA 0.607 4 24 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113518037 113518037 + Nonsense_Mutation SNP G T T rs145569602 TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:113518037G>T uc010ljy.1 - 4 3141 c.3110C>A c.(3109-3111)TCA>TAA p.S1037* NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 1037 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 AGTGTATAGTGATTGCCCAGA 0.393 72 160 --- --- --- --- PASS TNPO3 23534 broad.mit.edu 37 7 128640534 128640534 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:128640534G>A uc003vol.1 - 7 1334 c.960C>T c.(958-960)GAC>GAT p.D320D TNPO3_uc003vom.1_Silent_p.D254D|TNPO3_uc010lly.1_Silent_p.D320D|TNPO3_uc010llz.1_Silent_p.D320D NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 320 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 GAGTTCGAAGGTCCCCAAGAC 0.428 58 84 --- --- --- --- PASS CHCHD3 54927 broad.mit.edu 37 7 132570425 132570425 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:132570425C>A uc003vre.2 - 5 586 c.450G>T c.(448-450)GAG>GAT p.E150D CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Missense_Mutation_p.E155D|CHCHD3_uc010lmj.2_Missense_Mutation_p.R13I NM_017812 NP_060282 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain 150 inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold 0 GTCATACCCTCTCCTCCAGTC 0.353 41 60 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133812132 133812132 + Silent SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:133812132C>G uc003vrm.1 + 1 28 c.12C>G c.(10-12)TCC>TCG p.S4S NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 4 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 TGGCGACCTCCGAGAGGGCTC 0.612 6 120 --- --- --- --- PASS ZNF746 155061 broad.mit.edu 37 7 149171603 149171603 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr7:149171603T>C uc003wfw.2 - 7 2078 c.1807A>G c.(1807-1809)ACG>GCG p.T603A ZNF746_uc010lpi.2_Missense_Mutation_p.T604A NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 603 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCGGGCGGCGTCGGGAGTGGC 0.662 9 8 --- --- --- --- PASS CHRNB3 1142 broad.mit.edu 37 8 42591652 42591652 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr8:42591652C>T uc003xpi.1 + 6 1396 c.1268C>T c.(1267-1269)GCT>GTT p.A423V NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 423 Cytoplasmic (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAATTTGTAGCTCAAGTTCTT 0.408 32 173 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43147635 43147635 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr8:43147635C>T uc003xpz.1 + 1 51 c.8C>T c.(7-9)GCT>GTT p.A3V POTEA_uc003xqa.1_Missense_Mutation_p.A3V NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 3 ovary(1) 1 CAGATGGTGGCTGAGGTTTCT 0.537 11 42 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55542671 55542671 + Nonsense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr8:55542671C>T uc003xsd.1 + 4 6377 c.6229C>T c.(6229-6231)CAG>TAG p.Q2077* RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2077 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAACAGATTCCAGGGCTCAAG 0.363 3 40 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618877 77618877 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr8:77618877G>T uc003yav.2 + 2 2941 c.2554G>T c.(2554-2556)GAT>TAT p.D852Y ZFHX4_uc003yat.1_Missense_Mutation_p.D852Y|ZFHX4_uc003yau.1_Missense_Mutation_p.D852Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D852Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 852 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATTCCAGCTGGATCCAGCGAC 0.493 HNSCC(33;0.089) 16 10 --- --- --- --- PASS KIAA1429 25962 broad.mit.edu 37 8 95507087 95507087 + Splice_Site SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr8:95507087C>G uc003ygo.1 - 20 4654 c.4641_splice c.e20+1 p.L1547_splice KIAA1429_uc010maz.1_Splice_Site NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ATAATTTATACCAAATCCAGA 0.308 28 156 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113317078 113317078 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr8:113317078G>T uc003ynu.2 - 52 8297 c.8138C>A c.(8137-8139)TCC>TAC p.S2713Y CSMD3_uc003yns.2_Missense_Mutation_p.S1915Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S2673Y|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2713 Extracellular (Potential).|Sushi 16. 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 TTCATAATGGGAGCCATTCAC 0.403 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 35 --- --- --- --- PASS DMRT3 58524 broad.mit.edu 37 9 990301 990301 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:990301G>T uc003zgw.1 + 2 753 c.715G>T c.(715-717)GTT>TTT p.V239F NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 239 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CTCGGGGACTGTTTCTCTGCC 0.562 9 88 --- --- --- --- PASS BNC2 54796 broad.mit.edu 37 9 16583008 16583008 + Nonsense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:16583008G>A uc003zml.2 - 4 546 c.406C>T c.(406-408)CAG>TAG p.Q136* BNC2_uc011lmw.1_Nonsense_Mutation_p.Q41*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Q94*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Q150*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Q173*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Q164*|BNC2_uc010mij.1_Nonsense_Mutation_p.Q58*|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Nonsense_Mutation_p.Q58*|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TGTTTACACTGATCACAAGTC 0.378 15 195 --- --- --- --- PASS KLHL9 55958 broad.mit.edu 37 9 21333559 21333559 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:21333559C>T uc003zoy.2 - 1 1871 c.1300G>A c.(1300-1302)GAA>AAA p.E434K KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 434 Kelch 3. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) TAGTGGGGTTCACTCATTTTT 0.433 12 127 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79842344 79842344 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:79842344A>T uc004akr.2 + 16 1655 c.1395A>T c.(1393-1395)TTA>TTT p.L465F VPS13A_uc004akp.3_Missense_Mutation_p.L465F|VPS13A_uc004akq.3_Missense_Mutation_p.L465F|VPS13A_uc004aks.2_Missense_Mutation_p.L465F NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 465 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AAAAAGCTTTACTCTATGAAG 0.284 4 38 --- --- --- --- PASS C9orf153 389766 broad.mit.edu 37 9 88842793 88842793 + Missense_Mutation SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:88842793T>G uc004aoo.2 - 3 300 c.219A>C c.(217-219)AGA>AGC p.R73S GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.2_Missense_Mutation_p.R73S NM_001010907 NP_001010907 Q5TBE3 CI153_HUMAN hypothetical protein LOC389766 73 0 GGAGATCTCCTCTCACATCAG 0.448 6 78 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107599762 107599762 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:107599762C>A uc004bcl.2 - 10 1454 c.1141G>T c.(1141-1143)GGG>TGG p.G381W NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 381 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGGATCTTCCCAACGAGCAGC 0.517 18 44 --- --- --- --- PASS OR1J1 347168 broad.mit.edu 37 9 125239760 125239760 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:125239760C>G uc011lyu.1 - 1 446 c.446G>C c.(445-447)TGG>TCG p.W149S OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AGCGATGACCCAGGACCCAGC 0.522 6 33 --- --- --- --- PASS NRARP 441478 broad.mit.edu 37 9 140196057 140196057 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr9:140196057C>T uc004cmo.2 - 1 647 c.324G>A c.(322-324)AAG>AAA p.K108K C9orf167_uc011mew.1_Intron NM_001004354 NP_001004354 Q7Z6K4 NRARP_HUMAN NOTCH-regulated ankyrin repeat protein 108 ANK 2. negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.185) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273) TGGCCGCGTACTTCGCCTTGG 0.711 4 15 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26409611 26409611 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr10:26409611G>T uc001isn.2 + 18 2143 c.1783G>T c.(1783-1785)GGT>TGT p.G595C MYO3A_uc009xko.1_Missense_Mutation_p.G595C|MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 595 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TCAGCAACTTGGTAGTATATA 0.438 10 64 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29815957 29815957 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr10:29815957C>A uc001iut.1 - 13 3028 c.2275G>T c.(2275-2277)GGC>TGC p.G759C SVIL_uc001iuu.1_Intron NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 759 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GGGTGGGTGCCCCCAGAACAC 0.517 4 26 --- --- --- --- PASS SEC31B 25956 broad.mit.edu 37 10 102257543 102257543 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr10:102257543G>T uc001krc.1 - 16 1973 c.1871C>A c.(1870-1872)GCC>GAC p.A624D SEC31B_uc010qpo.1_Missense_Mutation_p.A623D|SEC31B_uc001krd.1_Missense_Mutation_p.A161D|SEC31B_uc001krf.1_Missense_Mutation_p.A161D|SEC31B_uc001kre.1_Missense_Mutation_p.A161D|SEC31B_uc001krg.1_Missense_Mutation_p.A193D NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 624 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CACAACACAGGCTAGAAGCTG 0.512 4 88 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105185125 105185125 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr10:105185125C>T uc001kwy.1 + 20 3235 c.3148C>T c.(3148-3150)CAT>TAT p.H1050Y NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1050 S1 motif 9. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TAAGCCTACCCATGTGGTTGT 0.502 26 70 --- --- --- --- PASS INPP5A 3632 broad.mit.edu 37 10 134563340 134563340 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr10:134563340C>A uc001llp.2 + 11 1142 c.894C>A c.(892-894)AAC>AAA p.N298K INPP5A_uc001llo.1_Missense_Mutation_p.N298K|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 298 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) GAGACAACAACGGCACCGCGG 0.562 15 62 --- --- --- --- PASS CTSD 1509 broad.mit.edu 37 11 1775093 1775093 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:1775093C>A uc001luc.1 - 8 1144 c.1011G>T c.(1009-1011)GCG>GCT p.A337A CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 337 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCAGTGTGATCGCGGGCAGGG 0.612 6 68 --- --- --- --- PASS OR56B4 196335 broad.mit.edu 37 11 6129835 6129835 + Missense_Mutation SNP T A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:6129835T>A uc010qzx.1 + 1 827 c.827T>A c.(826-828)ATT>AAT p.I276N NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 276 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCCCCTTATTCCTGTGTTC 0.512 17 103 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7064865 7064865 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:7064865G>A uc001mfb.1 + 4 1931 c.1608G>A c.(1606-1608)TTG>TTA p.L536L NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 536 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTGGCCTTTTGAATGAAGATC 0.358 10 62 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136672 40136672 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:40136672C>T uc001mxa.1 - 2 3135 c.1171G>A c.(1171-1173)GGA>AGA p.G391R LRRC4C_uc001mxc.1_Missense_Mutation_p.G387R|LRRC4C_uc001mxd.1_Missense_Mutation_p.G387R|LRRC4C_uc001mxb.1_Missense_Mutation_p.G387R NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 391 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) ATGACTGTTCCATTTGGAGTA 0.488 15 106 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703454 55703454 + Silent SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:55703454G>T uc010ris.1 - 1 423 c.423C>A c.(421-423)GGC>GGA p.G141G NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCATACAGATGCCCCTAGACA 0.443 11 84 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258068 56258068 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:56258068C>T uc001nix.1 - 1 779 c.779G>A c.(778-780)AGA>AAA p.R260K NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TGAGGGGGGTCTGAGATACAT 0.408 5 60 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56949949 56949949 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:56949949G>A uc001njl.1 + 1 729 c.582G>A c.(580-582)CGG>CGA p.R194R NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 164 LRR 4. integral to membrane 0 CCTGGCTGCGGAGGGTGCATC 0.622 4 39 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57076303 57076303 + Silent SNP T A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:57076303T>A uc001njr.2 - 5 4194 c.3882A>T c.(3880-3882)GCA>GCT p.A1294A TNKS1BP1_uc001njs.2_Silent_p.A1294A|TNKS1BP1_uc009ymd.1_Silent_p.A745A NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1294 Gly-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GACTGCAGACTGCCCCTGGGG 0.587 16 118 --- --- --- --- PASS DAGLA 747 broad.mit.edu 37 11 61498817 61498817 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:61498817G>A uc001nsa.2 + 9 989 c.878G>A c.(877-879)TGC>TAC p.C293Y NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 293 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) AAAGAGGTCTGCTACTACATG 0.627 4 74 --- --- --- --- PASS P2RY2 5029 broad.mit.edu 37 11 72945945 72945945 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:72945945C>T uc001otj.2 + 3 1074 c.741C>T c.(739-741)ATC>ATT p.I247I P2RY2_uc001otk.2_Silent_p.I247I|P2RY2_uc001otl.2_Silent_p.I247I NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 247 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) TGCGCACCATCGCCGTGGTGC 0.647 7 79 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92577249 92577249 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:92577249G>C uc001pdj.3 + 18 10733 c.10716G>C c.(10714-10716)AAG>AAC p.K3572N FAT3_uc001pdi.3_Missense_Mutation_p.K12N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3572 Cadherin 33.|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) TCATTGGGAAGATTCATGCCA 0.458 TCGA Ovarian(4;0.039) 20 300 --- --- --- --- PASS SLC36A4 120103 broad.mit.edu 37 11 92895910 92895910 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:92895910G>A uc001pdn.2 - 9 1096 c.999C>T c.(997-999)ATC>ATT p.I333I SLC36A4_uc001pdm.2_Silent_p.I198I NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 333 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity p.I333M(1) ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGCTGCCTTTGATTTCATCAT 0.328 4 91 --- --- --- --- PASS SLC36A4 120103 broad.mit.edu 37 11 92901139 92901139 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:92901139G>A uc001pdn.2 - 7 836 c.739C>T c.(739-741)CTT>TTT p.L247F SLC36A4_uc001pdm.2_Missense_Mutation_p.L112F NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 247 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATTATCACAAGACTGACAGCC 0.289 9 112 --- --- --- --- PASS C11orf54 28970 broad.mit.edu 37 11 93483519 93483519 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:93483519G>A uc009ywi.2 + 4 394 c.63G>A c.(61-63)CAG>CAA p.Q21Q C11orf54_uc001pee.1_Silent_p.Q21Q|C11orf54_uc001pef.2_Silent_p.Q21Q|C11orf54_uc001peg.2_Silent_p.Q21Q|C11orf54_uc001peh.2_Silent_p.Q21Q|C11orf54_uc001pei.2_Silent_p.Q2Q|C11orf54_uc001pej.2_Silent_p.Q2Q NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 21 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TAGTTATGCAGAAGGGGTTAA 0.378 6 135 --- --- --- --- PASS C11orf54 28970 broad.mit.edu 37 11 93486866 93486866 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:93486866G>T uc009ywi.2 + 5 504 c.173G>T c.(172-174)AGA>ATA p.R58I C11orf54_uc001pee.1_Missense_Mutation_p.R58I|C11orf54_uc001pef.2_Missense_Mutation_p.R58I|C11orf54_uc001peg.2_Missense_Mutation_p.R58I|C11orf54_uc001peh.2_Missense_Mutation_p.R58I|C11orf54_uc001pei.2_Missense_Mutation_p.R39I|C11orf54_uc001pej.2_Missense_Mutation_p.R39I|C11orf54_uc001pek.2_5'UTR NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 58 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGGAAAACTAGAATTGCAGAA 0.328 5 85 --- --- --- --- PASS C11orf54 28970 broad.mit.edu 37 11 93487108 93487108 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:93487108G>A uc009ywi.2 + 6 566 c.235G>A c.(235-237)GAT>AAT p.D79N C11orf54_uc001pee.1_Missense_Mutation_p.D79N|C11orf54_uc001pef.2_Missense_Mutation_p.D79N|C11orf54_uc001peg.2_Missense_Mutation_p.D79N|C11orf54_uc001peh.2_Missense_Mutation_p.D79N|C11orf54_uc001pei.2_Missense_Mutation_p.D60N|C11orf54_uc001pej.2_Missense_Mutation_p.D60N|C11orf54_uc001pek.2_5'UTR NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 79 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATAGGTTTATGATCTGAATAA 0.388 16 256 --- --- --- --- PASS PANX1 24145 broad.mit.edu 37 11 93862630 93862630 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:93862630C>G uc001per.2 + 1 537 c.152C>G c.(151-153)TCG>TGG p.S51W uc001pen.1_5'Flank|PANX1_uc001peq.2_Missense_Mutation_p.S51W NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 51 Helical; (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTGCTCATCTCGCTGGCCTTC 0.652 8 86 --- --- --- --- PASS PANX1 24145 broad.mit.edu 37 11 93862640 93862640 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:93862640C>A uc001per.2 + 1 547 c.162C>A c.(160-162)TTC>TTA p.F54L uc001pen.1_5'Flank|PANX1_uc001peq.2_Missense_Mutation_p.F54L NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 54 Helical; (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGCTGGCCTTCGCGCAGGAGA 0.662 8 78 --- --- --- --- PASS CASP4 837 broad.mit.edu 37 11 104825679 104825679 + Missense_Mutation SNP T A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:104825679T>A uc001pid.1 - 2 130 c.57A>T c.(55-57)AAA>AAT p.K19N CASP4_uc001pib.1_Translation_Start_Site|CASP4_uc009yxg.1_Translation_Start_Site|CASP4_uc010rux.1_Missense_Mutation_p.K19N|CASP4_uc010ruy.1_Missense_Mutation_p.K19N NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 19 CARD. apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TGAGGAAATCTTTGCCCAGGG 0.378 11 66 --- --- --- --- PASS DIXDC1 85458 broad.mit.edu 37 11 111866262 111866262 + Nonsense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:111866262G>T uc001pml.2 + 17 1960 c.1663G>T c.(1663-1665)GAG>TAG p.E555* DIXDC1_uc001pmm.2_Nonsense_Mutation_p.E344*|DIXDC1_uc001pmn.2_Nonsense_Mutation_p.E261*|DIXDC1_uc010rwq.1_Nonsense_Mutation_p.E220* NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 555 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GCATGTTATGGAGACGCAGAA 0.483 10 82 --- --- --- --- PASS TMPRSS13 84000 broad.mit.edu 37 11 117787940 117787940 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr11:117787940C>A uc001prs.1 - 3 594 c.501G>T c.(499-501)CCG>CCT p.P167P TMPRSS13_uc009yzr.1_Intron|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.P167P NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 162 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) ACCCGATGAGCGGTAGCTGCT 0.627 4 29 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 401958 401958 + Silent SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:401958T>G uc001qif.1 - 27 5196 c.4833A>C c.(4831-4833)GCA>GCC p.A1611A KDM5A_uc001qie.1_Silent_p.A1616A NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1611 PHD-type 3. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 AGTTCTGTGCTGCGCACACAG 0.478 T NUP98 AML 46 105 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7805307 7805307 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:7805307T>C uc001qtb.2 - 3 203 c.169A>G c.(169-171)AAC>GAC p.N57D APOBEC1_uc001qtc.2_Missense_Mutation_p.N12D|APOBEC1_uc010sgf.1_Missense_Mutation_p.N57D NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 57 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 TTGGTGGTGTTTTTGCCTGAG 0.458 6 42 --- --- --- --- PASS RIMKLB 57494 broad.mit.edu 37 12 8926044 8926044 + Silent SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:8926044C>G uc001quu.2 + 6 1076 c.825C>G c.(823-825)GTC>GTG p.V275V RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Silent_p.V275V|RIMKLB_uc010sgl.1_Silent_p.V275V|RIMKLB_uc001quw.2_Silent_p.V275V NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 275 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CCTTCTGCGTCTGTGAGGCCA 0.483 40 125 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 8998722 8998722 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:8998722C>T uc001quz.3 + 14 1685 c.1587C>T c.(1585-1587)GCC>GCT p.A529A A2ML1_uc001qva.1_Silent_p.A109A|A2ML1_uc010sgm.1_Silent_p.A29A NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 373 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 CGAGACTGGCCCCTGATCCTT 0.463 9 145 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9349191 9349191 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:9349191C>A uc001qvl.2 - 9 987 c.958G>T c.(958-960)GCC>TCC p.A320S PZP_uc009zgl.2_Missense_Mutation_p.A189S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CTGATCCTGGCTTCCACTCTA 0.383 9 133 --- --- --- --- PASS RERG 85004 broad.mit.edu 37 12 15262093 15262093 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:15262093G>T uc001rcs.2 - 4 691 c.551C>A c.(550-552)ACG>AAG p.T184K RERG_uc001rct.2_Missense_Mutation_p.T184K|RERG_uc010shu.1_Missense_Mutation_p.T165K NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 184 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 CTTGACATGCGTGGTGGAGCT 0.517 31 112 --- --- --- --- PASS SSPN 8082 broad.mit.edu 37 12 26383680 26383680 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:26383680G>T uc001rhe.2 + 3 503 c.403G>T c.(403-405)GTC>TTC p.V135F SSPN_uc001rhd.2_Missense_Mutation_p.V32F|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron NM_005086 NP_005077 Q14714 SSPN_HUMAN sarcospan isoform 1 135 Helical; (Potential). cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle 0 Colorectal(261;0.0847) GGGCCTGACGGTCTGTGTGCT 0.517 7 75 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46320209 46320209 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:46320209T>C uc001rox.2 - 11 3562 c.3275A>G c.(3274-3276)CAG>CGG p.Q1092R SFRS2IP_uc001row.2_Missense_Mutation_p.Q777R|SFRS2IP_uc001roy.1_Missense_Mutation_p.Q1166R NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1092 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) ATTTTCATTCTGATCTTTATA 0.433 18 103 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54910050 54910050 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:54910050G>T uc001sgc.3 + 10 1048 c.969G>T c.(967-969)AAG>AAT p.K323N NCKAP1L_uc010sox.1_Translation_Start_Site|NCKAP1L_uc010soy.1_Missense_Mutation_p.K273N NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 323 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CAGACATAAAGGAGAGCAAGG 0.483 7 79 --- --- --- --- PASS OR6C68 403284 broad.mit.edu 37 12 55886651 55886651 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:55886651C>A uc010spo.1 + 1 505 c.505C>A c.(505-507)CTA>ATA p.L169I NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, 164 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGGTTTTCATCTAGAATTCTG 0.383 6 50 --- --- --- --- PASS MIP 4284 broad.mit.edu 37 12 56845175 56845175 + Silent SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:56845175G>T uc001slh.2 - 4 713 c.681C>A c.(679-681)CTC>CTA p.L227L TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 227 Cytoplasmic (By similarity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 AAATACTCTTGAGCCGGGGGA 0.522 34 155 --- --- --- --- PASS HELB 92797 broad.mit.edu 37 12 66725399 66725399 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:66725399G>T uc001sti.2 + 12 3164 c.3136G>T c.(3136-3138)GAT>TAT p.D1046Y HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 1046 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TGTGAATGATGATGAAAGTCC 0.373 4 65 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72030283 72030283 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:72030283C>T uc001swo.2 - 9 2446 c.2087G>A c.(2086-2088)CGA>CAA p.R696Q NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 696 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GATCACAGTTCGTGGAAGACG 0.383 9 68 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99837495 99837495 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:99837495G>C uc001tge.1 - 11 1948 c.1531C>G c.(1531-1533)CCT>GCT p.P511A ANKS1B_uc001tgf.1_Missense_Mutation_p.P91A|ANKS1B_uc009ztt.1_Missense_Mutation_p.P477A NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 511 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GCAGTATCAGGGGATGGAGGT 0.428 10 80 --- --- --- --- PASS SCYL2 55681 broad.mit.edu 37 12 100729439 100729439 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:100729439G>A uc001thn.2 + 15 1949 c.1899G>A c.(1897-1899)GAG>GAA p.E633E SCYL2_uc001thm.1_Silent_p.E633E NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 633 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 ATGTTTCTGAGGAGATGAAAG 0.313 5 73 --- --- --- --- PASS PWP1 11137 broad.mit.edu 37 12 108105954 108105954 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:108105954G>C uc001tmo.1 + 15 1550 c.1463G>C c.(1462-1464)GGC>GCC p.G488A PWP1_uc009zuu.1_3'UTR NM_007062 NP_008993 Q13610 PWP1_HUMAN periodic tryptophan protein 1 488 transcription, DNA-dependent nucleus 0 TCTATTAGTGGCCCTTTTGGC 0.383 13 97 --- --- --- --- PASS CCDC63 160762 broad.mit.edu 37 12 111311754 111311754 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:111311754C>T uc001trv.1 + 5 673 c.478C>T c.(478-480)CGT>TGT p.R160C CCDC63_uc009zvt.1_Missense_Mutation_p.R75C|CCDC63_uc010sye.1_Missense_Mutation_p.R120C|CCDC63_uc001trw.1_Missense_Mutation_p.R75C NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 160 Potential. skin(6)|ovary(1)|pancreas(1) 8 TTTGGAAACCCGTTTGAATCT 0.433 21 170 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113543637 113543637 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr12:113543637C>A uc001tum.1 - 17 2002 c.1709G>T c.(1708-1710)GGC>GTC p.G570V RASAL1_uc010syp.1_Missense_Mutation_p.G571V|RASAL1_uc001tul.2_Missense_Mutation_p.G570V|RASAL1_uc001tun.1_Missense_Mutation_p.G572V|RASAL1_uc010syq.1_Missense_Mutation_p.G571V|RASAL1_uc001tuo.3_Missense_Mutation_p.G571V NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 570 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 CAGCAGATAGCCTTCTCGAAC 0.632 12 108 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23908856 23908856 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr13:23908856C>A uc001uon.2 - 10 9748 c.9159G>T c.(9157-9159)GAG>GAT p.E3053D SACS_uc001uoo.2_Missense_Mutation_p.E2906D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3053 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TATAGACATTCTCTGCTACTG 0.328 16 57 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25670679 25670679 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr13:25670679C>G uc001upy.2 + 1 404 c.343C>G c.(343-345)CTG>GTG p.L115V NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 115 RRM 2. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TAATAAAGCACTGTATGATAC 0.388 24 83 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599636 29599636 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr13:29599636G>A uc001usl.3 + 1 889 c.831G>A c.(829-831)CTG>CTA p.L277L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 267 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CACATGTACTGCAGGTGTGCA 0.507 8 18 --- --- --- --- PASS FAM155A 728215 broad.mit.edu 37 13 108518491 108518491 + Silent SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr13:108518491G>T uc001vql.2 - 1 970 c.454C>A c.(454-456)CGG>AGG p.R152R NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 152 integral to membrane binding skin(1) 1 GCCTTGCCCCGGTCGTCTTTG 0.692 15 39 --- --- --- --- PASS TFDP1 7027 broad.mit.edu 37 13 114290937 114290937 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr13:114290937G>C uc001vtw.2 + 10 1140 c.928G>C c.(928-930)GAG>CAG p.E310Q TFDP1_uc010tkd.1_Missense_Mutation_p.E215Q|TFDP1_uc010tke.1_Missense_Mutation_p.E215Q|TFDP1_uc001vty.3_Missense_Mutation_p.E310Q|TFDP1_uc001vtx.2_Missense_Mutation_p.E190Q NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 310 DCB2.|Enhances binding of RB protein to E2F. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TTGCGGGCTGGAGTCGGGGAG 0.507 TSP Lung(29;0.18) 15 47 --- --- --- --- PASS PAX9 5083 broad.mit.edu 37 14 37132593 37132593 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:37132593A>G uc001wty.3 + 3 1213 c.496A>G c.(496-498)ATC>GTC p.I166V PAX9_uc010amq.2_5'Flank NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 166 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) CCCCAGCCCTATCACGGCGGC 0.682 10 41 --- --- --- --- PASS SYT16 83851 broad.mit.edu 37 14 62547935 62547935 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:62547935G>A uc001xfu.1 + 4 1574 c.1377G>A c.(1375-1377)CTG>CTA p.L459L SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_Silent_p.L17L NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 459 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TCAGCCACCTGCACCCAGAAG 0.502 15 30 --- --- --- --- PASS ADAM20 8748 broad.mit.edu 37 14 70991290 70991290 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:70991290G>A uc001xme.2 - 2 580 c.335C>T c.(334-336)TCC>TTC p.S112F NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 62 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CAGGCTATAGGAGAGCCATCC 0.527 24 60 --- --- --- --- PASS PROX2 283571 broad.mit.edu 37 14 75321889 75321889 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:75321889C>T uc001xqr.1 - 4 1725 c.1725G>A c.(1723-1725)TCG>TCA p.S575S uc001xqp.1_5'Flank|PROX2_uc001xqq.1_Silent_p.S274S NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 575 Prospero-like. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TGTCCAGTTTCGAAATAATTT 0.473 3 19 --- --- --- --- PASS SPTLC2 9517 broad.mit.edu 37 14 78021768 78021768 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:78021768C>A uc001xub.2 - 8 1239 c.1051G>T c.(1051-1053)GCC>TCC p.A351S NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 351 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGGCCCAGGGCGCCAATGCTG 0.522 25 95 --- --- --- --- PASS TCL1B 9623 broad.mit.edu 37 14 96152950 96152950 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:96152950C>A uc001yez.2 + 1 188 c.146C>A c.(145-147)GCC>GAC p.A49D TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.A49D NM_004918 NP_004909 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 49 ovary(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TGGGCCAGGGCCTCCCAGGGC 0.672 12 29 --- --- --- --- PASS TCL1B 9623 broad.mit.edu 37 14 96152951 96152951 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:96152951C>A uc001yez.2 + 1 189 c.147C>A c.(145-147)GCC>GCA p.A49A TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Silent_p.A49A NM_004918 NP_004909 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 49 ovary(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GGGCCAGGGCCTCCCAGGGCA 0.672 12 28 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106610496 106610496 + RNA SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr14:106610496C>G uc010tyt.1 - 1167 c.26335G>C Parts of antibodies, mostly variable regions. 0 TCCCTGGAGCCTGGCGGACCC 0.567 5 92 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931528 23931528 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:23931528C>A uc001ywk.2 - 1 923 c.837G>T c.(835-837)CTG>CTT p.L279L NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 279 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AGACCCTGGCCAGGAACTCCA 0.602 Prader-Willi_syndrome 7 49 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49048099 49048099 + Splice_Site SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:49048099C>A uc001zwy.2 - 20 3379 c.3345_splice c.e20+1 p.K1115_splice CEP152_uc001zwz.2_Splice_Site_p.K1115_splice|CEP152_uc001zxa.1_Splice_Site_p.K1022_splice NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CAGGAACATACCTTTTTCCAT 0.343 13 102 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49048100 49048100 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:49048100C>A uc001zwy.2 - 20 3379 c.3345G>T c.(3343-3345)AAG>AAT p.K1115N CEP152_uc001zwz.2_Missense_Mutation_p.K1115N|CEP152_uc001zxa.1_Missense_Mutation_p.K1022N NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1115 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AGGAACATACCTTTTTCCATT 0.343 13 103 --- --- --- --- PASS SHC4 399694 broad.mit.edu 37 15 49254907 49254907 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:49254907C>T uc001zxb.1 - 1 735 c.306G>A c.(304-306)CTG>CTA p.L102L NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 102 CH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TTTTCAGACTCAGCAAAGTGG 0.607 13 82 --- --- --- --- PASS GALK2 2585 broad.mit.edu 37 15 49584700 49584700 + Silent SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:49584700C>G uc001zxj.1 + 8 1031 c.933C>G c.(931-933)CTC>CTG p.L311L GALK2_uc001zxi.1_Silent_p.L300L|GALK2_uc010ufb.1_Silent_p.L287L|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Silent_p.L287L NM_002044 NP_002035 Q01415 GALK2_HUMAN galactokinase 2 isoform 1 311 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1) 1 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) TGGAGGAACTCCGAACCCAAA 0.458 11 60 --- --- --- --- PASS AP4E1 23431 broad.mit.edu 37 15 51217296 51217296 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:51217296A>G uc001zyx.1 + 5 452 c.422A>G c.(421-423)GAT>GGT p.D141G AP4E1_uc010ufi.1_Missense_Mutation_p.D141G|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 141 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TTGTGCCAGGATCTGCAGAGC 0.373 4 74 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52659307 52659307 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:52659307C>A uc002aby.2 - 23 3325 c.3081G>T c.(3079-3081)CTG>CTT p.L1027L MYO5A_uc002abx.3_Silent_p.L1027L|MYO5A_uc010uge.1_Silent_p.L896L NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1027 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TTTCTTCCTTCAGATTTGATA 0.423 5 70 --- --- --- --- PASS GCOM1 145781 broad.mit.edu 37 15 57976616 57976616 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:57976616C>T uc002aei.2 + 13 1440 c.1321C>T c.(1321-1323)CGT>TGT p.R441C GCOM1_uc002aej.2_Missense_Mutation_p.R413C|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_Intron|GCOM1_uc002aer.1_RNA|GRINL1A_uc002aes.2_5'UTR NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN GRINL1A upstream protein isoform 7 441 intracellular signal transduction extrinsic to internal side of plasma membrane|I band ovary(1) 1 AGGCAGGACTCGTGAAATTGT 0.428 5 115 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73536809 73536809 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:73536809G>T uc002avm.3 + 9 1718 c.1576G>T c.(1576-1578)GCT>TCT p.A526S NEO1_uc010ukx.1_Missense_Mutation_p.A526S|NEO1_uc010uky.1_Missense_Mutation_p.A526S|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.A191S NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 526 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 AGAGAGTTCAGCTCCACTGCG 0.483 14 73 --- --- --- --- PASS MAN2A2 4122 broad.mit.edu 37 15 91448578 91448578 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr15:91448578A>T uc010bnz.2 + 3 345 c.230A>T c.(229-231)GAG>GTG p.E77V MAN2A2_uc010boa.2_Missense_Mutation_p.E119V|MAN2A2_uc002bqc.2_Missense_Mutation_p.E77V|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 77 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TCCGTGCTGGAGCTGACAGCC 0.597 10 91 --- --- --- --- PASS MLST8 64223 broad.mit.edu 37 16 2256502 2256502 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:2256502C>T uc002coz.2 + 4 305 c.186C>T c.(184-186)TAC>TAT p.Y62Y MLST8_uc002coy.2_Silent_p.Y62Y|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.Y61Y|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Silent_p.Y62Y|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Silent_p.Y62Y|MLST8_uc010uvy.1_Silent_p.Y62Y|MLST8_uc002cpg.2_Silent_p.Y81Y|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.Y62Y NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 62 WD 2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 CCCTAGGTTACCAGCACATCC 0.527 8 165 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20480859 20480859 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:20480859C>A uc010bwe.2 + 5 653 c.414C>A c.(412-414)ATC>ATA p.I138I ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.I59I|ACSM2A_uc002dhf.3_Silent_p.I138I|ACSM2A_uc002dhg.3_Silent_p.I138I|ACSM2A_uc010vay.1_Silent_p.I59I NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 138 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CTGGAACCATCCAGATGAAAT 0.423 14 47 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20480860 20480860 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:20480860C>A uc010bwe.2 + 5 654 c.415C>A c.(415-417)CAG>AAG p.Q139K ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.Q60K|ACSM2A_uc002dhf.3_Missense_Mutation_p.Q139K|ACSM2A_uc002dhg.3_Missense_Mutation_p.Q139K|ACSM2A_uc010vay.1_Missense_Mutation_p.Q60K NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 139 Coenzyme A. fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 TGGAACCATCCAGATGAAATC 0.428 14 47 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20673196 20673196 + Splice_Site SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:20673196C>G uc002dhm.1 - 6 981 c.913_splice c.e6-1 p.T305_splice ACSM1_uc002dhn.1_Splice_Site|ACSM1_uc010bwg.1_Splice_Site_p.T305_splice NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 TCAACAATGTCTGGAAAGGGA 0.393 13 41 --- --- --- --- PASS ERN2 10595 broad.mit.edu 37 16 23722242 23722242 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:23722242A>T uc002dma.3 - 2 504 c.335T>A c.(334-336)CTG>CAG p.L112Q ERN2_uc010bxp.2_Missense_Mutation_p.L112Q|ERN2_uc010bxq.1_5'UTR NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 64 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) ACCATCCCTCAGAGTCCACTT 0.448 31 74 --- --- --- --- PASS RSPRY1 89970 broad.mit.edu 37 16 57265166 57265166 + Silent SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:57265166T>G uc002elb.2 + 13 1742 c.1464T>G c.(1462-1464)TCT>TCG p.S488S RSPRY1_uc002elc.2_Silent_p.S488S|RSPRY1_uc002eld.2_Silent_p.S488S NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 488 extracellular region zinc ion binding ovary(1) 1 ACCCACCATCTATGAAATTTA 0.363 24 60 --- --- --- --- PASS CES8 283848 broad.mit.edu 37 16 67037456 67037456 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:67037456G>T uc002eqv.2 + 8 982 c.939G>T c.(937-939)GAG>GAT p.E313D CES8_uc010vix.1_Missense_Mutation_p.E313D|CES8_uc002eqw.2_Missense_Mutation_p.E313D|CES8_uc002eqy.2_Missense_Mutation_p.E215D|CES8_uc002eqx.2_Missense_Mutation_p.E119D|CES8_uc010viy.1_Missense_Mutation_p.E219D|CES8_uc010viz.1_Missense_Mutation_p.E215D|CES8_uc002eqz.2_5'Flank NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 313 extracellular region carboxylesterase activity 0 ACCCGGAAGAGGTAAACAGGC 0.318 43 105 --- --- --- --- PASS TCF25 22980 broad.mit.edu 37 16 89964992 89964992 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr16:89964992G>C uc002fpb.2 + 10 1132 c.1050G>C c.(1048-1050)CAG>CAC p.Q350H TCF25_uc002fpc.2_Missense_Mutation_p.Q115H NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 350 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCTACAAGCAGATGAGCTTCC 0.577 32 103 --- --- --- --- PASS RPA1 6117 broad.mit.edu 37 17 1783860 1783860 + Silent SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr17:1783860A>G uc002fto.2 + 12 1231 c.1116A>G c.(1114-1116)AGA>AGG p.R372R NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 372 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 ATGGTTCTAGACAGCCCGTGT 0.448 NER 31 54 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578535 7578535 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr17:7578535T>C uc002gim.2 - 5 589 c.395A>G c.(394-396)AAG>AGG p.K132R TP53_uc002gig.1_Missense_Mutation_p.K132R|TP53_uc002gih.2_Missense_Mutation_p.K132R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132R|TP53_uc010cni.1_Missense_Mutation_p.K132R|TP53_uc002gij.2_Missense_Mutation_p.K132R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39R|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 132 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in 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.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.N131del(2)|p.N131fs*27(2)|p.K132*(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K132W(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) GCAAAACATCTTGTTGAGGGC 0.562 111 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) 16 28 --- --- --- --- PASS TOP3A 7156 broad.mit.edu 37 17 18196039 18196039 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr17:18196039C>A uc002gsx.1 - 11 1430 c.1201G>T c.(1201-1203)GGT>TGT p.G401C TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.G299C NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 401 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GGGGTGGGACCACCCCGCTCT 0.542 23 62 --- --- --- --- PASS KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr17:39305619G>T uc002hwb.2 - 1 436 c.401C>A c.(400-402)TCT>TAT p.S134Y NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 24.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.313 3 22 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54450027 54450027 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr17:54450027G>A uc002iun.1 + 6 666 c.631G>A c.(631-633)GCA>ACA p.A211T NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 211 Potential. large_intestine(1)|ovary(1) 2 GGAAAGCCGAGCAATGCACCT 0.478 8 181 --- --- --- --- PASS HGS 9146 broad.mit.edu 37 17 79668078 79668078 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr17:79668078C>T uc002kbg.2 + 21 2217 c.2140C>T c.(2140-2142)CTC>TTC p.L714F MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 714 Interaction with NF2.|Gln-rich. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) ACAACAGAATCTCATGACCAC 0.597 5 76 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3879542 3879542 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:3879542G>A uc002kmf.2 - 1 594 c.527C>T c.(526-528)GCG>GTG p.A176V DLGAP1_uc010wyz.1_Missense_Mutation_p.A176V|DLGAP1_uc002kmk.2_Missense_Mutation_p.A176V|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 176 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GCCATAGCGCGCCGCCTGCGC 0.697 39 153 --- --- --- --- PASS SS18 6760 broad.mit.edu 37 18 23612395 23612395 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:23612395G>A uc002kvm.2 - 10 1276 c.1198C>T c.(1198-1200)CCA>TCA p.P400S SS18_uc002kvn.2_Missense_Mutation_p.P369S|SS18_uc010xbf.1_Missense_Mutation_p.P318S|SS18_uc010xbg.1_Missense_Mutation_p.P317S|SS18_uc010xbh.1_Missense_Mutation_p.P317S|SS18_uc010xbi.1_Missense_Mutation_p.P377S NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 400 Gln-rich.|SH3-binding (Potential). positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TGCTGGGGTGGCTGTGGTGGT 0.498 T SSX1| SSX2 synovial sarcoma 23 270 --- --- --- --- PASS SS18 6760 broad.mit.edu 37 18 23612396 23612396 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:23612396C>A uc002kvm.2 - 10 1275 c.1197G>T c.(1195-1197)CAG>CAT p.Q399H SS18_uc002kvn.2_Missense_Mutation_p.Q368H|SS18_uc010xbf.1_Missense_Mutation_p.Q317H|SS18_uc010xbg.1_Missense_Mutation_p.Q316H|SS18_uc010xbh.1_Missense_Mutation_p.Q316H|SS18_uc010xbi.1_Missense_Mutation_p.Q376H NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 399 Gln-rich.|SH3-binding (Potential). positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GCTGGGGTGGCTGTGGTGGTC 0.502 T SSX1| SSX2 synovial sarcoma 23 274 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32418101 32418101 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:32418101G>C uc010dmn.1 + 11 1139 c.1138G>C c.(1138-1140)GCT>CCT p.A380P DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Missense_Mutation_p.A377P|DTNA_uc010dmm.2_Missense_Mutation_p.A380P|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Missense_Mutation_p.A89P|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Missense_Mutation_p.A59P NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 380 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 CAAACTGCTGGCTAGGGCTGC 0.443 51 49 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32418763 32418763 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:32418763C>A uc010dmn.1 + 12 1228 c.1227C>A c.(1225-1227)ATC>ATA p.I409I DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Silent_p.I406I|DTNA_uc010dmm.2_Silent_p.I409I|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Silent_p.I118I|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 409 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 ATGTTCTCATCGGGTTGTATG 0.502 5 165 --- --- --- --- PASS PIK3C3 5289 broad.mit.edu 37 18 39607454 39607454 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:39607454C>T uc002lap.2 + 14 1590 c.1532C>T c.(1531-1533)CCA>CTA p.P511L PIK3C3_uc010xcl.1_Missense_Mutation_p.P448L|PIK3C3_uc002laq.2_5'UTR NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 511 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 CAGAGAGATCCAAAGACCCAT 0.323 TSP Lung(28;0.18) 3 38 --- --- --- --- PASS RAX 30062 broad.mit.edu 37 18 56939713 56939713 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:56939713C>A uc002lhx.2 - 2 610 c.423G>T c.(421-423)ACG>ACT p.T141T RAX_uc010dpp.2_Intron NM_013435 NP_038463 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 141 Homeobox. visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) TGGTGAAAGTCGTGCGGTTCC 0.652 22 67 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65178337 65178337 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr18:65178337T>C uc002lke.1 - 2 4763 c.3539A>G c.(3538-3540)TAT>TGT p.Y1180C NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1170 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) TTCCCCTTCATAGGGAAGGTA 0.358 9 40 --- --- --- --- PASS UHRF1 29128 broad.mit.edu 37 19 4932887 4932887 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:4932887G>A uc002mbo.2 + 5 872 c.704G>A c.(703-705)CGG>CAG p.R235Q UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.R248Q NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 235 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CCCAAGGAGCGGGGCTTCTGG 0.667 11 43 --- --- --- --- PASS TNFSF14 8740 broad.mit.edu 37 19 6669937 6669937 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:6669937C>A uc002mfk.1 - 2 526 c.144G>T c.(142-144)GGG>GGT p.G48G TNFSF14_uc002mfj.1_Intron NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 48 Helical; Signal-anchor for type II membrane protein; (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CCAGCCCGGCCCCCATCAGCA 0.662 4 104 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9056708 9056708 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:9056708G>A uc002mkp.2 - 3 30942 c.30738C>T c.(30736-30738)TTC>TTT p.F10246F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10248 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGATTCTGGGAAGGAGGTTA 0.458 16 54 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9060853 9060853 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:9060853G>T uc002mkp.2 - 3 26797 c.26593C>A c.(26593-26595)CCT>ACT p.P8865T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8867 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGTGGCGAAGGTGAGGTTACT 0.502 9 121 --- --- --- --- PASS CCDC151 115948 broad.mit.edu 37 19 11537596 11537596 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:11537596C>T uc002mrs.2 - 5 764 c.621G>A c.(619-621)CGG>CGA p.R207R CCDC151_uc002mrr.2_Silent_p.R142R|CCDC151_uc010dxz.2_Intron NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 207 Potential. ovary(1) 1 TCTCCAGGTTCCGCATGGTCT 0.637 6 33 --- --- --- --- PASS ZNF44 51710 broad.mit.edu 37 19 12383611 12383611 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:12383611A>T uc010xmj.1 - 5 1808 c.1603T>A c.(1603-1605)TCT>ACT p.S535T ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.S487T NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 535 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TATTTAAAAGAACTAAATGCT 0.353 6 83 --- --- --- --- PASS C19orf57 79173 broad.mit.edu 37 19 14003963 14003963 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:14003963G>C uc002mxl.1 - 4 339 c.280C>G c.(280-282)CCT>GCT p.P94A C19orf57_uc002mxk.1_5'Flank|C19orf57_uc002mxm.1_Missense_Mutation_p.P94A NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 94 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) ACCTGGGAAGGAGGAAGGGGA 0.537 17 12 --- --- --- --- PASS NOTCH3 4854 broad.mit.edu 37 19 15271654 15271654 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:15271654G>C uc002nan.2 - 33 6861 c.6785C>G c.(6784-6786)TCC>TGC p.S2262C NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 2262 Cytoplasmic (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) GTCTGAGAGGGAGGGAGGTGA 0.672 12 77 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16860592 16860592 + Nonsense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:16860592C>G uc002neu.3 + 6 1561 c.1139C>G c.(1138-1140)TCA>TGA p.S380* NWD1_uc002net.3_Nonsense_Mutation_p.S245*|NWD1_uc002nev.3_Nonsense_Mutation_p.S174* Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 380 NACHT. ATP binding skin(3)|ovary(2)|pancreas(2) 7 CAAATGAGCTCAGATGCCCGT 0.632 3 35 --- --- --- --- PASS ZNF714 148206 broad.mit.edu 37 19 21299983 21299983 + Silent SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:21299983T>G uc002npo.3 + 6 876 c.516T>G c.(514-516)TCT>TCG p.S172S ZNF714_uc002npl.2_Silent_p.S17S|ZNF714_uc010ecp.1_Silent_p.S123S|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAATTCTTACCAATGTG 0.338 7 69 --- --- --- --- PASS ZNF507 22847 broad.mit.edu 37 19 32844259 32844259 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:32844259G>C uc002nte.2 + 3 795 c.523G>C c.(523-525)GTG>CTG p.V175L ZNF507_uc002ntc.2_Missense_Mutation_p.V175L|ZNF507_uc010xrn.1_Missense_Mutation_p.V175L|ZNF507_uc002ntd.2_Missense_Mutation_p.V175L NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 175 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) AGCCCACGTGGTGAATGACCA 0.453 15 76 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38949935 38949935 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:38949935G>T uc002oit.2 + 19 2447 c.2317G>T c.(2317-2319)GAC>TAC p.D773Y RYR1_uc002oiu.2_Missense_Mutation_p.D773Y NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 773 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTTCAACCTGGACGGGCTCTT 0.597 4 48 --- --- --- --- PASS ZNF780B 163131 broad.mit.edu 37 19 40541220 40541220 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:40541220G>C uc002omu.2 - 5 1611 c.1546C>G c.(1546-1548)CTT>GTT p.L516V ZNF780B_uc002omv.2_Missense_Mutation_p.L368V NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 516 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGTTGAACAAGGTTCGAGCCA 0.428 6 53 --- --- --- --- PASS ZNF780A 284323 broad.mit.edu 37 19 40581599 40581599 + Missense_Mutation SNP T G G rs140183562 byFrequency TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:40581599T>G uc002omy.2 - 6 975 c.750A>C c.(748-750)GAA>GAC p.E250D ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E250D|ZNF780A_uc010xvh.1_Missense_Mutation_p.E251D NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 250 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATTCCTTACATTCAAACAGTT 0.393 4 158 --- --- --- --- PASS PSG3 5671 broad.mit.edu 37 19 43234133 43234133 + Missense_Mutation SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:43234133C>A uc002oue.2 - 4 917 c.785G>T c.(784-786)TGT>TTT p.C262F PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.C284F NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 262 Ig-like C2-type 2. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) CTTAGGTTCACAGGTGAAGGC 0.488 33 218 --- --- --- --- PASS IRGC 56269 broad.mit.edu 37 19 44223251 44223251 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:44223251C>A uc002oxh.2 + 2 688 c.541C>A c.(541-543)CGG>AGG p.R181R NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 181 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) GCGCACCCAGCGGCCGTCGGG 0.682 7 39 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46338488 46338488 + Splice_Site SNP T G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:46338488T>G uc002pdn.2 - 11 1488 c.1243_splice c.e11-1 p.V415_splice SYMPK_uc002pdo.1_Splice_Site_p.V415_splice|SYMPK_uc002pdp.1_Splice_Site_p.V415_splice|SYMPK_uc002pdq.1_Splice_Site_p.V415_splice NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GATGAGGACCTGTGGGATGCC 0.398 6 80 --- --- --- --- PASS SLC17A7 57030 broad.mit.edu 37 19 49939821 49939821 + Silent SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:49939821G>A uc002pnp.2 - 2 472 c.300C>T c.(298-300)GGC>GGT p.G100G SLC17A7_uc002pnq.1_Silent_p.G33G NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 100 Extracellular (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CCACCACGTGGCCCCCGCGGT 0.647 4 57 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51215370 51215370 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:51215370G>A uc002psx.1 - 6 813 c.794C>T c.(793-795)GCG>GTG p.A265V NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 265 ANK 2. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GTCCAGGAGCGCCTAGGAACG 0.602 6 63 --- --- --- --- PASS SIGLEC6 946 broad.mit.edu 37 19 52023493 52023493 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:52023493A>T uc002pwy.2 - 8 1367 c.1205T>A c.(1204-1206)TTC>TAC p.F402Y SIGLEC6_uc002pwz.2_Missense_Mutation_p.F386Y|SIGLEC6_uc002pxa.2_Silent_p.V343V|SIGLEC6_uc010ydb.1_Missense_Mutation_p.F339Y|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S375T|SIGLEC6_uc010eoz.1_Silent_p.V321V NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 402 Cytoplasmic (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GCCTGTCTGGAACTGGTGCTG 0.498 7 175 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54313840 54313840 + Missense_Mutation SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:54313840C>T uc002qch.3 - 3 1293 c.1073G>A c.(1072-1074)AGG>AAG p.R358K NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R358K|NLRP12_uc002qcj.3_Missense_Mutation_p.R358K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R358K NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 358 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTCCACATGCCTGGGGTGCTC 0.527 35 173 --- --- --- --- PASS ZNF460 10794 broad.mit.edu 37 19 57802790 57802790 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:57802790A>T uc002qog.2 + 3 1203 c.881A>T c.(880-882)AAT>ATT p.N294I ZNF460_uc010ygv.1_Missense_Mutation_p.N253I NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 294 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TACCGCTCCAATTTTGTCTTG 0.483 17 80 --- --- --- --- PASS ZNF548 147694 broad.mit.edu 37 19 57909941 57909941 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr19:57909941A>G uc002qom.2 + 3 536 c.286A>G c.(286-288)ATT>GTT p.I96V ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.I99V NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTGAAAGACATTCTGTGCCT 0.468 9 104 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8713910 8713910 + Silent SNP G A A rs11484096 TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr20:8713910G>A uc002wnb.2 + 19 1917 c.1914G>A c.(1912-1914)GGG>GGA p.G638G PLCB1_uc010zrb.1_Silent_p.G537G|PLCB1_uc002wna.2_Silent_p.G638G|PLCB1_uc002wnc.1_Silent_p.G537G|PLCB1_uc002wnd.1_Silent_p.G215G NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 638 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TAAATATGGGGATGTATGAAT 0.393 9 68 --- --- --- --- PASS RBL1 5933 broad.mit.edu 37 20 35696516 35696516 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr20:35696516T>C uc002xgi.2 - 3 443 c.364A>G c.(364-366)ATA>GTA p.I122V RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.I122V|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 122 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) AGCCTTTCTATACGTTCACGA 0.284 7 42 --- --- --- --- PASS NCOA5 57727 broad.mit.edu 37 20 44691090 44691090 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr20:44691090G>C uc002xrd.2 - 7 2117 c.1589C>G c.(1588-1590)TCC>TGC p.S530C NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.S530C NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 530 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) GATACCTGTGGAAGACACAGG 0.572 17 32 --- --- --- --- PASS RAE1 8480 broad.mit.edu 37 20 55948590 55948590 + Silent SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr20:55948590A>T uc002xyg.2 + 9 1043 c.702A>T c.(700-702)GGA>GGT p.G234G RAE1_uc010gis.1_Silent_p.G187G|RAE1_uc010git.1_Silent_p.G234G|RAE1_uc002xyh.2_Silent_p.G234G|RAE1_uc002xyi.2_Silent_p.G234G NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 234 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) TTGCCCTGGGAAGTATCGAGG 0.408 13 123 --- --- --- --- PASS RBM11 54033 broad.mit.edu 37 21 15599537 15599537 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr21:15599537G>C uc002yjo.3 + 5 811 c.769G>C c.(769-771)GAT>CAT p.D257H RBM11_uc002yjn.3_Missense_Mutation_p.D143H|RBM11_uc002yjp.3_Missense_Mutation_p.D143H NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 257 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) AAGTGATAGTGATAGTAGCAC 0.388 5 148 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22746206 22746206 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr21:22746206C>A uc002yld.1 + 9 1317 c.1068C>A c.(1066-1068)GTC>GTA p.V356V NCAM2_uc011acb.1_Silent_p.V214V|NCAM2_uc011acc.1_Silent_p.V381V NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 356 Ig-like C2-type 4.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTATCGAAGTCAAAGGGCAGC 0.423 16 54 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41385159 41385159 + Silent SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr21:41385159C>T uc002yyq.1 - 33 6293 c.5841G>A c.(5839-5841)CCG>CCA p.P1947P DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1947 Cytoplasmic (Potential). HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGGCTTCCATCGGGATGGGCT 0.657 12 31 --- --- --- --- PASS PITPNB 23760 broad.mit.edu 37 22 28293859 28293859 + Missense_Mutation SNP C G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr22:28293859C>G uc003adk.2 - 4 295 c.219G>C c.(217-219)AGG>AGC p.R73S PITPNB_uc011akh.1_Missense_Mutation_p.R75S|PITPNB_uc003adl.2_Missense_Mutation_p.R73S NM_012399 NP_036531 P48739 PIPNB_HUMAN phosphatidylinositol transfer protein, beta 73 lipid metabolic process|transport Golgi apparatus lipid binding skin(1) 1 GAGCAATCATCCTCACGAATG 0.478 27 113 --- --- --- --- PASS C22orf30 253143 broad.mit.edu 37 22 32072807 32072807 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr22:32072807G>A uc003alo.1 - 6 5830 c.5774C>T c.(5773-5775)CCG>CTG p.P1925L NM_173566 NP_775837 Q5THK1 PR14L_HUMAN hypothetical protein LOC253143 Error:Variant_position_missing_in_Q5THK1_after_alignment 0 TCTCCAGCCCGGCAGGTACCA 0.463 5 15 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36715597 36715597 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr22:36715597G>A uc003apg.2 - 10 1327 c.1096C>T c.(1096-1098)CCC>TCC p.P366S MYH9_uc003aph.1_Missense_Mutation_p.P230S NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 366 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GTGTTGTCGGGCATGGACGCC 0.577 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 3 39 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36723505 36723505 + Splice_Site SNP C T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr22:36723505C>T uc003apg.2 - 4 749 c.518_splice c.e4+1 p.T173_splice MYH9_uc003aph.1_Splice_Site_p.T37_splice|MYH9_uc003api.1_Splice_Site_p.T173_splice NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GAAATACTTACGTGCACAAGA 0.502 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 13 48 --- --- --- --- PASS SSTR3 6753 broad.mit.edu 37 22 37603337 37603337 + Missense_Mutation SNP A T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr22:37603337A>T uc003ara.2 - 2 568 c.506T>A c.(505-507)GTG>GAG p.V169E SSTR3_uc003arb.2_Missense_Mutation_p.V169E NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 169 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 GGCTGAGGCCACCCACACAGC 0.731 10 52 --- --- --- --- PASS MCAT 27349 broad.mit.edu 37 22 43533133 43533133 + Missense_Mutation SNP G C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr22:43533133G>C uc003bdl.1 - 3 732 c.683C>G c.(682-684)TCC>TGC p.S228C MCAT_uc003bdm.1_Intron NM_173467 NP_775738 Q8IVS2 FABD_HUMAN mitochondrial malonyltransferase isoform a 228 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding ovary(1) 1 Ovarian(80;0.0694) GAGGTAGTTGGACACTTCACA 0.527 OREG0026613 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 197 --- --- --- --- PASS MID1 4281 broad.mit.edu 37 X 10535112 10535112 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chrX:10535112T>C uc004cte.3 - 2 667 c.476A>G c.(475-477)CAT>CGT p.H159R MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Missense_Mutation_p.H159R|MID1_uc004cth.3_Missense_Mutation_p.H159R|MID1_uc004ctk.3_Missense_Mutation_p.H159R|MID1_uc004cti.3_Missense_Mutation_p.H159R|MID1_uc004ctj.3_Missense_Mutation_p.H159R|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.H159R|MID1_uc004ctn.1_Missense_Mutation_p.H159R|MID1_uc004cto.1_Missense_Mutation_p.H159R|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Missense_Mutation_p.H159R|MID1_uc004ctu.2_Missense_Mutation_p.H159R|MID1_uc004ctv.2_Missense_Mutation_p.H159R|MID1_uc004ctw.2_Missense_Mutation_p.H159R|MID1_uc010ndy.1_Missense_Mutation_p.H159R|uc010ndz.1_5'Flank|MID1_uc004cty.2_Missense_Mutation_p.H159R|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Missense_Mutation_p.H159R|MID1_uc010nea.1_Intron|MID1_uc004cuc.1_Missense_Mutation_p.H159R|MID1_uc004cud.1_Missense_Mutation_p.H159R|MID1_uc004cue.1_Missense_Mutation_p.H159R|MID1_uc004cuf.1_Missense_Mutation_p.H159R|MID1_uc004cug.1_Missense_Mutation_p.H159R NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 159 B box-type 1. Zinc 2. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 AATCAGACGATGGCCTGTAAA 0.527 3 37 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31514965 31514965 + Missense_Mutation SNP G T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chrX:31514965G>T uc004dda.1 - 57 8731 c.8487C>A c.(8485-8487)AGC>AGA p.S2829R DMD_uc004dcq.1_Missense_Mutation_p.S100R|DMD_uc004dcr.1_Missense_Mutation_p.S369R|DMD_uc004dcs.1_Missense_Mutation_p.S369R|DMD_uc004dct.1_Missense_Mutation_p.S369R|DMD_uc004dcu.1_Missense_Mutation_p.S369R|DMD_uc004dcv.1_Missense_Mutation_p.S369R|DMD_uc004dcw.2_Missense_Mutation_p.S1485R|DMD_uc004dcx.2_Missense_Mutation_p.S1488R|DMD_uc004dcz.2_Missense_Mutation_p.S2706R|DMD_uc004dcy.1_Missense_Mutation_p.S2825R|DMD_uc004ddb.1_Missense_Mutation_p.S2821R NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2829 Spectrin 20. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTGCCTGCCGGCTTAATTCAT 0.498 12 25 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50377041 50377041 + Missense_Mutation SNP T C C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chrX:50377041T>C uc004dpe.2 - 4 2058 c.2032A>G c.(2032-2034)AGG>GGG p.R678G SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R562G NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 678 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) AAGCCTGTCCTAGATTCATGG 0.562 6 15 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79281249 79281249 + Silent SNP C A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chrX:79281249C>A uc010nmg.1 + 5 740 c.606C>A c.(604-606)ACC>ACA p.T202T TBX22_uc004edi.1_Silent_p.T82T|TBX22_uc004edj.1_Silent_p.T202T NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 202 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TGAAACTCACCAACAATGAGA 0.542 3 13 --- --- --- --- PASS XIAP 331 broad.mit.edu 37 X 123040952 123040952 + Missense_Mutation SNP A G G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chrX:123040952A>G uc010nqu.2 + 7 1541 c.1415A>G c.(1414-1416)AAA>AGA p.K472R XIAP_uc004etx.2_Missense_Mutation_p.K472R|XIAP_uc010nqv.2_Missense_Mutation_p.K98R NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 472 RING-type. anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 GTCACTTGTAAACAATGTGCT 0.388 X-linked_Lymphoproliferative_syndrome 4 34 --- --- --- --- PASS GAB3 139716 broad.mit.edu 37 X 153927772 153927772 + Missense_Mutation SNP G A A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chrX:153927772G>A uc004fmj.1 - 6 1187 c.1139C>T c.(1138-1140)CCG>CTG p.P380L GAB3_uc004fmk.1_Missense_Mutation_p.P381L|GAB3_uc010nve.1_Missense_Mutation_p.P381L|GAB3_uc004fml.1_5'UTR NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 380 ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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) GGGGTACATCGGGGAGAACCT 0.547 9 28 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228469780 228469781 + Frame_Shift_Ins INS - T T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 46cb2de7-bbe1-4444-b17e-4c5677a05249 9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7 g.chr1:228469780_228469781insT uc009xez.1 + 31 8388_8389 c.8344_8345insT c.(8344-8346)CGCfs p.R2782fs OBSCN_uc001hsn.2_Frame_Shift_Ins_p.R2782fs|OBSCN_uc001hsp.1_Frame_Shift_Ins_p.R481fs|OBSCN_uc001hsq.1_Frame_Shift_Ins_p.R38fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2782 Ig-like 27. 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) CAGCTCCAGCCGCTTCCAGGCC 0.644 32 14 --- --- --- ---