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 FAM131C 348487 broad.mit.edu 37 1 16385178 16385178 + Silent SNP G A A rs80297394 TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:16385178G>A uc001axz.3 - 7 787 c.597C>T c.(595-597)CCC>CCT p.P199P FAM131C_uc010obz.1_Intron NM_182623 NP_872429 Q96AQ9 F131C_HUMAN hypothetical protein LOC348487 199 0 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) AGGGGCCGCTGGGAAGGCTGT 0.647 3 7 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39823488 39823488 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:39823488G>A uc010oiu.1 + 9 7317 c.7186G>A c.(7186-7188)GAA>AAA p.E2396K MACF1_uc010ois.1_Missense_Mutation_p.E1894K|MACF1_uc001cda.1_Missense_Mutation_p.E1802K|MACF1_uc001cdc.1_Missense_Mutation_p.E981K|MACF1_uc001cdb.1_Missense_Mutation_p.E981K NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3961 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGAAGGCAAAGAACCATCAGA 0.428 11 82 --- --- --- --- PASS ASB17 127247 broad.mit.edu 37 1 76397634 76397634 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:76397634G>A uc001dhe.1 - 1 483 c.343C>T c.(343-345)CTC>TTC p.L115F ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 115 intracellular signal transduction ovary(1) 1 GTCTTCTTGAGAAGCAATTCC 0.338 27 71 --- --- --- --- PASS PLEKHO1 51177 broad.mit.edu 37 1 150131220 150131220 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:150131220G>T uc001ett.2 + 6 1010 c.732G>T c.(730-732)TGG>TGT p.W244C PLEKHO1_uc001etr.2_Missense_Mutation_p.W72C|PLEKHO1_uc001ets.2_Missense_Mutation_p.W61C|PLEKHO1_uc001etu.2_Missense_Mutation_p.W72C NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 244 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCCGACCTTGGGAAAAAACAG 0.637 16 93 --- --- --- --- PASS SHC1 6464 broad.mit.edu 37 1 154942792 154942792 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:154942792C>T uc001ffv.2 - 1 432 c.211G>A c.(211-213)GCC>ACC p.A71T SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Missense_Mutation_p.A71T|SHC1_uc001ffx.2_Intron|SHC1_uc001ffy.2_Intron NM_183001 NP_892113 P29353 SHC1_HUMAN SHC-transforming protein 1 isoform 1 71 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(1)|skin(1) 2 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCGGGTTGGCCAGCCTCAGG 0.662 3 58 --- --- --- --- PASS CD1E 913 broad.mit.edu 37 1 158325820 158325820 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:158325820G>T uc001fse.2 + 4 1068 c.829G>T c.(829-831)GCT>TCT p.A277S CD1E_uc010pid.1_Missense_Mutation_p.A275S|CD1E_uc010pie.1_Missense_Mutation_p.A178S|CD1E_uc010pif.1_Missense_Mutation_p.A88S|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.A187S|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.A88S|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.A277S|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.A88S|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.A178S|CD1E_uc001frz.2_Missense_Mutation_p.A187S|CD1E_uc009wsw.2_Missense_Mutation_p.A35S NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 277 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) GGATGTGGCGGCTGGGGAGGC 0.612 18 86 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197069639 197069639 + Silent SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:197069639G>A uc001gtu.2 - 18 8999 c.8742C>T c.(8740-8742)ATC>ATT p.I2914I ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.I762I NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2914 IQ 33. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTTGAATAATGATAACACTGC 0.294 10 129 --- --- --- --- PASS SYT2 127833 broad.mit.edu 37 1 202574852 202574852 + Missense_Mutation SNP T G G rs75160100 TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:202574852T>G uc001gye.2 - 2 242 c.49A>C c.(49-51)ACC>CCC p.T17P SYT2_uc010pqb.1_Missense_Mutation_p.T17P|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 17 Vesicular (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GCGGTGGTGGTGGCAGGAGCC 0.577 8 37 --- --- --- --- PASS CHI3L1 1116 broad.mit.edu 37 1 203152863 203152863 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr1:203152863G>A uc001gzi.2 - 5 542 c.371C>T c.(370-372)CCG>CTG p.P124L FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.P124L NM_001276 NP_001267 P36222 CH3L1_HUMAN chitinase 3-like 1 precursor 124 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding pancreas(1) 1 CAGAAATGGCGGTACTGACTT 0.522 30 79 --- --- --- --- PASS KLF11 8462 broad.mit.edu 37 2 10192505 10192505 + Silent SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:10192505G>T uc002raf.1 + 4 1572 c.1410G>T c.(1408-1410)ACG>ACT p.T470T KLF11_uc010yjc.1_Silent_p.T453T NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 470 C2H2-type 3. apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) ACCACCTGACGAAGCATGCCC 0.607 27 99 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28802550 28802550 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:28802550C>T uc002rmb.1 + 23 1542 c.1542C>T c.(1540-1542)GAC>GAT p.D514D PLB1_uc010ezj.1_Silent_p.D525D|PLB1_uc002rmc.2_Silent_p.D202D|PLB1_uc002rmd.1_Silent_p.D24D NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 514 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GCGGCAATGACCTCTGTGATT 0.473 52 163 --- --- --- --- PASS EPAS1 2034 broad.mit.edu 37 2 46597015 46597015 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:46597015G>C uc002ruv.2 + 7 1317 c.829G>C c.(829-831)GCC>CCC p.A277P NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 277 PAS 2. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) TGGCCGCTCAGCCTATGAATT 0.478 23 67 --- --- --- --- PASS DCTN1 1639 broad.mit.edu 37 2 74594825 74594825 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:74594825G>C uc002skx.2 - 18 2493 c.2182C>G c.(2182-2184)CAG>GAG p.Q728E DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.Q594E|DCTN1_uc002sku.2_Missense_Mutation_p.Q594E|DCTN1_uc002skw.1_Missense_Mutation_p.Q704E|DCTN1_uc010ffd.2_Missense_Mutation_p.Q708E|DCTN1_uc002sky.2_Missense_Mutation_p.Q691E NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 728 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 CCCCACACCTGATAGTACTTG 0.502 26 75 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102481430 102481430 + Silent SNP C G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:102481430C>G uc002tbg.2 + 17 1960 c.1905C>G c.(1903-1905)TCC>TCG p.S635S MAP4K4_uc002tbc.2_Silent_p.S712S|MAP4K4_uc002tbd.2_Silent_p.S604S|MAP4K4_uc002tbe.2_Silent_p.S550S|MAP4K4_uc002tbf.2_Silent_p.S604S|MAP4K4_uc010yvy.1_Silent_p.S627S|MAP4K4_uc002tbh.2_Silent_p.S550S|MAP4K4_uc002tbi.2_Silent_p.S434S|MAP4K4_uc010yvz.1_Silent_p.S607S|MAP4K4_uc002tbk.2_Silent_p.S90S|MAP4K4_uc002tbl.2_5'UTR NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 635 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CTGTTCTGTCCCGTCGAGATT 0.448 4 7 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116101417 116101417 + Missense_Mutation SNP C G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:116101417C>G uc002tla.1 + 3 657 c.200C>G c.(199-201)ACC>AGC p.T67S DPP10_uc002tlb.1_Missense_Mutation_p.T17S|DPP10_uc002tlc.1_Missense_Mutation_p.T63S|DPP10_uc002tle.2_Missense_Mutation_p.T71S|DPP10_uc002tlf.1_Missense_Mutation_p.T60S NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 67 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TCGTCAGAAACCAGATTGTCT 0.348 32 120 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593377 179593377 + Missense_Mutation SNP C G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:179593377C>G uc010zfg.1 - 63 15768 c.15544G>C c.(15544-15546)GTT>CTT p.V5182L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1843L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6109 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) CTACTGGGAACTATTTGTTTC 0.408 24 55 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200213525 200213525 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:200213525C>T uc002uuy.1 - 7 1889 c.1072G>A c.(1072-1074)GTG>ATG p.V358M SATB2_uc010fsq.1_Missense_Mutation_p.V240M|SATB2_uc002uuz.1_Missense_Mutation_p.V358M|SATB2_uc002uva.1_Missense_Mutation_p.V358M|SATB2_uc002uvb.1_Missense_Mutation_p.V101M NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 358 CUT 1. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 GAGACTTCCACGGAAGAGTTG 0.547 79 214 --- --- --- --- PASS CRYGA 1418 broad.mit.edu 37 2 209025628 209025628 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:209025628C>T uc002vcq.3 - 3 442 c.425G>A c.(424-426)CGG>CAG p.R142Q NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 142 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) CAGATACTGCCGCCCCCGGTA 0.572 53 166 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210560619 210560619 + Missense_Mutation SNP A G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:210560619A>G uc002vde.1 + 7 3973 c.3725A>G c.(3724-3726)CAG>CGG p.Q1242R MAP2_uc002vdc.1_Missense_Mutation_p.Q1242R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q1238R NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1242 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATAGAAGCCCAGGGAGAATAT 0.488 29 92 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212812187 212812187 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:212812187C>T uc002veg.1 - 3 487 c.389G>A c.(388-390)GGA>GAA p.G130E ERBB4_uc002veh.1_Missense_Mutation_p.G130E|ERBB4_uc010zji.1_Missense_Mutation_p.G130E|ERBB4_uc010zjj.1_Missense_Mutation_p.G130E|ERBB4_uc010fut.1_Missense_Mutation_p.G130E NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 130 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTCTTGAAGTCCAAAGTTTCC 0.343 TSP Lung(8;0.080) 14 78 --- --- --- --- PASS SCLY 51540 broad.mit.edu 37 2 238991888 238991888 + Splice_Site SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr2:238991888G>A uc010fyv.2 + 7 842 c.778_splice c.e7-1 p.F260_splice SCLY_uc002vxm.3_Splice_Site_p.F227_splice|SCLY_uc002vxn.2_Splice_Site_p.F260_splice|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Splice_Site_p.F166_splice NM_016510 NP_057594 Q96I15 SCLY_HUMAN selenocysteine lyase cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity ovary(2) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) TTTCCTTCCAGTTTTATGGTC 0.284 42 125 --- --- --- --- PASS FOXP1 27086 broad.mit.edu 37 3 71090510 71090510 + Nonsense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr3:71090510G>A uc003dol.2 - 7 1161 c.838C>T c.(838-840)CAG>TAG p.Q280* FOXP1_uc003dom.2_Nonsense_Mutation_p.Q204*|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Nonsense_Mutation_p.Q280*|FOXP1_uc003dop.2_Nonsense_Mutation_p.Q280*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q279*|FOXP1_uc003doi.2_Nonsense_Mutation_p.Q180*|FOXP1_uc003doj.2_Nonsense_Mutation_p.Q180*|FOXP1_uc003dok.2_Nonsense_Mutation_p.Q93*|FOXP1_uc003dor.1_Nonsense_Mutation_p.Q58* NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 280 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ACTGAGAGCTGTCCATTGGTA 0.522 T PAX5 ALL 44 91 --- --- --- --- PASS CADM2 253559 broad.mit.edu 37 3 85935470 85935470 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr3:85935470G>T uc003dqj.2 + 4 1121 c.495G>T c.(493-495)GAG>GAT p.E165D CADM2_uc003dqk.2_Missense_Mutation_p.E174D|CADM2_uc003dql.2_Missense_Mutation_p.E167D NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 165 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ATGACAAAGAGATTAAAGGTA 0.323 20 41 --- --- --- --- PASS OR5K4 403278 broad.mit.edu 37 3 98073073 98073073 + Missense_Mutation SNP A G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr3:98073073A>G uc011bgv.1 + 1 376 c.376A>G c.(376-378)ATA>GTA p.I126V NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CTATGTGGCCATATGCCACCC 0.483 48 422 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113379864 113379864 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr3:113379864G>T uc003eam.2 - 7 1076 c.665C>A c.(664-666)CCT>CAT p.P222H KIAA2018_uc003eal.2_Missense_Mutation_p.P166H NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 222 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 AAGAGGAACAGGCTGGTTGGT 0.478 59 69 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140167502 140167502 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr3:140167502G>C uc003etn.2 + 6 1119 c.929G>C c.(928-930)TGT>TCT p.C310S CLSTN2_uc003etm.2_Missense_Mutation_p.C310S NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 310 Extracellular (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 GGGAAGGGTTGTGACCGGGAG 0.463 HNSCC(16;0.037) 110 281 --- --- --- --- PASS TM4SF19 116211 broad.mit.edu 37 3 196051168 196051168 + Silent SNP A G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr3:196051168A>G uc003fwl.1 - 4 548 c.423T>C c.(421-423)GGT>GGC p.G141G TM4SF19_uc003fwj.2_RNA|uc003fwk.1_3'UTR|TM4SF19_uc010iad.1_Silent_p.G141G|TM4SF19_uc011btv.1_Silent_p.G115G NM_138461 NP_612470 Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 141 Extracellular (Potential). integral to membrane 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) TGAATGGGTAACCATATTTCC 0.433 46 122 --- --- --- --- PASS GAK 2580 broad.mit.edu 37 4 887731 887731 + Nonsense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr4:887731G>A uc003gbm.3 - 8 1007 c.808C>T c.(808-810)CGA>TGA p.R270* GAK_uc003gbn.3_Nonsense_Mutation_p.R191*|GAK_uc010ibk.1_Nonsense_Mutation_p.R164*|GAK_uc003gbl.3_Nonsense_Mutation_p.R134* NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 270 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) TTGACTATTCGAAGTTTCGCT 0.607 3 35 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123195521 123195521 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr4:123195521G>C uc003ieh.2 + 47 8515 c.8470G>C c.(8470-8472)GAG>CAG p.E2824Q KIAA1109_uc003iel.1_Missense_Mutation_p.E759Q|KIAA1109_uc003iek.2_Missense_Mutation_p.E1443Q NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2824 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AAAGATGACTGAGACTTGTGC 0.279 23 48 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158253997 158253997 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr4:158253997C>T uc003ipm.3 + 7 1368 c.909C>T c.(907-909)GCC>GCT p.A303A GRIA2_uc011cit.1_Silent_p.A256A|GRIA2_uc003ipl.3_Silent_p.A303A|GRIA2_uc003ipk.3_Silent_p.A256A|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 303 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CCTATGATGCCGTTCAAGTGA 0.473 8 191 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 36985487 36985487 + Silent SNP T C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr5:36985487T>C uc003jkl.3 + 10 2704 c.2205T>C c.(2203-2205)ACT>ACC p.T735T NIPBL_uc003jkk.3_Silent_p.T735T|NIPBL_uc003jkm.1_Silent_p.T614T NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 735 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGCCTGAAACTCCAAAGCAAA 0.488 4 93 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118465097 118465097 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr5:118465097G>T uc003ksd.2 + 10 1475 c.1294G>T c.(1294-1296)GCA>TCA p.A432S DMXL1_uc010jcl.1_Missense_Mutation_p.A432S|DMXL1_uc003ksc.1_Missense_Mutation_p.A432S NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 432 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTCTAATCAGGCAGATGTAAA 0.323 23 77 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140800885 140800885 + Nonsense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr5:140800885C>T uc003lkq.1 + 1 349 c.91C>T c.(91-93)CAG>TAG p.Q31* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.Q31*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.Q31* NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 31 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGGCCAGGCAGATCCGATA 0.657 19 51 --- --- --- --- PASS CSNK1A1 1452 broad.mit.edu 37 5 148889453 148889453 + Missense_Mutation SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr5:148889453C>A uc003lqx.1 - 7 1219 c.739G>T c.(739-741)GTT>TTT p.V247F CSNK1A1_uc011dcb.1_Missense_Mutation_p.V156F|CSNK1A1_uc011dcc.1_Missense_Mutation_p.V186F|CSNK1A1_uc003lqv.1_Missense_Mutation_p.V158F|CSNK1A1_uc003lqw.1_Missense_Mutation_p.V275F|CSNK1A1_uc003lqy.1_Missense_Mutation_p.V247F|CSNK1A1_uc010jha.1_Missense_Mutation_p.V247F NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 247 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) TTACATAAAACTTCAACAGGC 0.204 3 65 --- --- --- --- PASS KIF6 221458 broad.mit.edu 37 6 39563859 39563859 + Missense_Mutation SNP T G G rs151248135 TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr6:39563859T>G uc003oot.2 - 7 912 c.817A>C c.(817-819)ATC>CTC p.I273L KIF6_uc010jxa.1_Missense_Mutation_p.I64L|KIF6_uc011dua.1_Missense_Mutation_p.I273L|KIF6_uc010jxb.1_Missense_Mutation_p.I273L NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 273 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GACAAGTTGATATACTTGGCC 0.358 30 83 --- --- --- --- PASS PRSS35 167681 broad.mit.edu 37 6 84233224 84233224 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr6:84233224G>C uc003pjz.2 + 2 227 c.64G>C c.(64-66)GAA>CAA p.E22Q PRSS35_uc010kbm.2_Missense_Mutation_p.E22Q NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 22 proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TGATGGATCTGAAATGGAATG 0.413 54 198 --- --- --- --- PASS SGK1 6446 broad.mit.edu 37 6 134495937 134495937 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr6:134495937C>T uc003qen.3 - 1 98 c.9G>A c.(7-9)GTG>GTA p.V3V SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_5'UTR|SGK1_uc011ecu.1_Silent_p.V3V|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 3 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CCTCAGTTTTCACCGTCATCA 0.587 26 157 --- --- --- --- PASS CARD11 84433 broad.mit.edu 37 7 2987233 2987233 + Silent SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:2987233G>A uc003smv.2 - 3 600 c.196C>T c.(196-198)CTG>TTG p.L66L NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 66 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGGATGGCAGCATAGGGGCA 0.542 Mis DLBCL 5 177 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21723442 21723442 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:21723442G>A uc003svc.2 + 33 5553 c.5522G>A c.(5521-5523)CGT>CAT p.R1841H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1841 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCTCAACTTCGTCACCGATGG 0.443 Kartagener_syndrome 59 427 --- --- --- --- PASS NPSR1 387129 broad.mit.edu 37 7 34884573 34884573 + Missense_Mutation SNP T C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:34884573T>C uc003teg.1 + 7 951 c.823T>C c.(823-825)TAT>CAT p.Y275H AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Y275H|NPSR1_uc010kwt.1_Missense_Mutation_p.Y122H|NPSR1_uc010kwu.1_Missense_Mutation_p.Y65H|NPSR1_uc010kwv.1_Missense_Mutation_p.Y209H|NPSR1_uc003tei.1_Missense_Mutation_p.Y275H|NPSR1_uc010kww.1_Missense_Mutation_p.Y264H|NPSR1_uc011kar.1_Missense_Mutation_p.Y209H NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 275 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) GGCTATCAAGTATAGCATCAT 0.443 41 132 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57188280 57188280 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:57188280G>T uc010kzo.2 - 5 1113 c.842C>A c.(841-843)TCC>TAC p.S281Y NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 281 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) AAGTGCTGAGGAGCGCCTAAA 0.458 29 98 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70880936 70880936 + Silent SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:70880936G>A uc003tvy.2 + 4 651 c.651G>A c.(649-651)GTG>GTA p.V217V WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 217 Catalytic subdomain A.|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) TGGTGAAGGTGGTAAGAAATC 0.532 21 74 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83119520 83119520 + Silent SNP C G G rs148264760 TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:83119520C>G uc003uhy.1 - 2 652 c.186G>C c.(184-186)CTG>CTC p.L62L NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 62 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) ATTCATCCAGCAGCATTGTAT 0.413 21 71 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508035 106508035 + Missense_Mutation SNP T C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:106508035T>C uc003vdv.3 + 2 114 c.29T>C c.(28-30)GTG>GCG p.V10A PIK3CG_uc003vdu.2_Missense_Mutation_p.V10A|PIK3CG_uc003vdw.2_Missense_Mutation_p.V10A NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 10 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AAACAGCCCGTGGTGCTGAGA 0.577 29 107 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117307102 117307102 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:117307102G>T uc003vjd.2 + 27 4515 c.4383G>T c.(4381-4383)AAG>AAT p.K1461N CFTR_uc011knq.1_Missense_Mutation_p.K867N NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 1461 Cytoplasmic (Potential). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GCAAGTCTAAGCCCCAGATTG 0.512 Cystic_Fibrosis 4 100 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67578502 67578502 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr8:67578502C>T uc003xwn.2 - 1 951 c.692G>A c.(691-693)CGA>CAA p.R231Q SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 231 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GAAGAGCTCTCGGCCTACTAG 0.507 65 90 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73850288 73850288 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr8:73850288G>A uc003xzb.2 + 3 3286 c.2698G>A c.(2698-2700)GAC>AAC p.D900N NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 900 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CAACCCAGGAGACACAGGTTA 0.348 7 233 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144940614 144940614 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr8:144940614C>T uc003zaa.1 - 2 14831 c.14818G>A c.(14818-14820)GGC>AGC p.G4940S NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4940 Plectin 62. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATGACGAAGCCGGTGGCCGCC 0.721 3 26 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90502147 90502147 + Silent SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr9:90502147C>A uc004app.3 + 4 2780 c.2745C>A c.(2743-2745)ACC>ACA p.T915T C9orf79_uc004apo.1_Silent_p.T727T NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 915 integral to membrane ovary(3) 3 CAGTCCCGACCGTGAGTGGCC 0.587 25 44 --- --- --- --- PASS RAPGEF1 2889 broad.mit.edu 37 9 134504004 134504004 + Missense_Mutation SNP C G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr9:134504004C>G uc004cbc.2 - 8 1028 c.898G>C c.(898-900)GTG>CTG p.V300L RAPGEF1_uc004cbb.2_Missense_Mutation_p.V318L|RAPGEF1_uc010mzm.2_5'Flank|RAPGEF1_uc010mzn.2_Missense_Mutation_p.V305L|RAPGEF1_uc004cbd.2_Missense_Mutation_p.V305L NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 300 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) ACCACAGCCACTCGGGTAGGG 0.592 11 29 --- --- --- --- PASS CAMSAP1 157922 broad.mit.edu 37 9 138707778 138707778 + Missense_Mutation SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr9:138707778C>A uc004cgr.3 - 15 4345 c.4345G>T c.(4345-4347)GCG>TCG p.A1449S CAMSAP1_uc004cgq.3_Missense_Mutation_p.A1339S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A1171S NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1449 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GCCGCCGACGCGGTCTCCCAG 0.607 28 83 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26463194 26463194 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr10:26463194G>T uc001isn.2 + 30 4361 c.4001G>T c.(4000-4002)AGG>ATG p.R1334M MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1334 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 GTCAAAGAGAGGCAAGTTGAA 0.502 45 156 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582413 55582413 + Missense_Mutation SNP A T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr10:55582413A>T uc001jju.1 - 33 5468 c.5073T>A c.(5071-5073)AGT>AGA p.S1691R PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S1688R|PCDH15_uc010qhw.1_Missense_Mutation_p.S1651R|PCDH15_uc010qhx.1_Missense_Mutation_p.S1622R|PCDH15_uc010qhy.1_Missense_Mutation_p.S1698R|PCDH15_uc010qhz.1_Missense_Mutation_p.S1693R|PCDH15_uc010qia.1_Missense_Mutation_p.S1671R|PCDH15_uc010qib.1_Missense_Mutation_p.S1668R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1691 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CAGCAGGAGAACTGATGACAT 0.423 HNSCC(58;0.16) 36 128 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69881497 69881497 + Missense_Mutation SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr10:69881497C>A uc001jnm.3 + 3 487 c.302C>A c.(301-303)TCT>TAT p.S101Y MYPN_uc001jnl.1_Missense_Mutation_p.S101Y|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.S101Y|MYPN_uc001jnp.1_Missense_Mutation_p.S101Y|MYPN_uc009xps.2_Missense_Mutation_p.S101Y|MYPN_uc009xpt.2_Missense_Mutation_p.S101Y|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 101 Interaction with CARP. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 AAACGACTTTCTCCTGATCAG 0.448 47 120 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69881505 69881505 + Missense_Mutation SNP C G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr10:69881505C>G uc001jnm.3 + 3 495 c.310C>G c.(310-312)CAG>GAG p.Q104E MYPN_uc001jnl.1_Missense_Mutation_p.Q104E|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.Q104E|MYPN_uc001jnp.1_Missense_Mutation_p.Q104E|MYPN_uc009xps.2_Missense_Mutation_p.Q104E|MYPN_uc009xpt.2_Missense_Mutation_p.Q104E|MYPN_uc010qit.1_Translation_Start_Site|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 104 Interaction with CARP. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TTCTCCTGATCAGATGAAACA 0.443 45 120 --- --- --- --- PASS PGAP2 27315 broad.mit.edu 37 11 3845356 3845356 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr11:3845356G>C uc001lys.2 + 4 718 c.592G>C c.(592-594)GAG>CAG p.E198Q PGAP2_uc001lyl.2_Missense_Mutation_p.E155Q|PGAP2_uc010qxw.1_Missense_Mutation_p.E255Q|PGAP2_uc010qxx.1_Missense_Mutation_p.R178P|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.E194Q|PGAP2_uc010qxz.1_Missense_Mutation_p.E194Q|PGAP2_uc001lyn.3_Missense_Mutation_p.R90P|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.E137Q|PGAP2_uc010qyb.1_Missense_Mutation_p.R140P|PGAP2_uc001lyt.2_5'UTR NM_014489 NP_055304 Q9UHJ9 PGAP2_HUMAN FGF receptor activating protein 1 isoform 1 198 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity 0 CTCCTCCTCCGAGGACTTCAG 0.607 10 42 --- --- --- --- PASS KIF18A 81930 broad.mit.edu 37 11 28058212 28058212 + Splice_Site SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr11:28058212C>A uc001msc.2 - 14 2131 c.1949_splice c.e14-1 p.C650_splice NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 GAAGATGAGCCTATTCAAAAA 0.318 9 38 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56184914 56184914 + Silent SNP A G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr11:56184914A>G uc010rji.1 - 1 795 c.795T>C c.(793-795)AAT>AAC p.N265N NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CCAAGGAGTGATTTGATTTGG 0.433 44 195 --- --- --- --- PASS PYGM 5837 broad.mit.edu 37 11 64519091 64519091 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr11:64519091C>T uc001oax.3 - 15 2622 c.1805G>A c.(1804-1806)CGG>CAG p.R602Q PYGM_uc001oay.3_Missense_Mutation_p.R514Q NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 602 R -> W (in GSD5). glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CATCACAGTCCGAGGCACAAA 0.552 23 137 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116728678 116728678 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr11:116728678C>T uc001ppy.2 - 20 3221 c.3185G>A c.(3184-3186)GGT>GAT p.G1062D SIK3_uc001ppz.2_Missense_Mutation_p.G901D|SIK3_uc001pqa.2_Missense_Mutation_p.G1002D|SIK3_uc001ppw.2_Missense_Mutation_p.G419D|SIK3_uc001ppx.2_Missense_Mutation_p.G440D|SIK3_uc001pqb.2_Missense_Mutation_p.G365D NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 1062 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GTCATGGCAACCTTTGGTCAA 0.537 7 153 --- --- --- --- PASS OR8B8 26493 broad.mit.edu 37 11 124310149 124310149 + Missense_Mutation SNP T A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr11:124310149T>A uc010sal.1 - 1 833 c.833A>T c.(832-834)TAT>TTT p.Y278F NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CACAGTGGTATAGAATAGGGA 0.408 40 119 --- --- --- --- PASS PUS7L 83448 broad.mit.edu 37 12 44136321 44136321 + Missense_Mutation SNP A C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr12:44136321A>C uc001rnq.3 - 5 1790 c.1301T>G c.(1300-1302)TTT>TGT p.F434C PUS7L_uc001rnr.3_Missense_Mutation_p.F434C|PUS7L_uc001rns.3_Missense_Mutation_p.F434C|PUS7L_uc009zkb.2_Missense_Mutation_p.F121C NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 434 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TCCCTTCCCAAATCTCTGTGG 0.313 48 160 --- --- --- --- PASS SLC38A2 54407 broad.mit.edu 37 12 46756368 46756368 + Missense_Mutation SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr12:46756368C>A uc001rpg.2 - 14 1673 c.1233G>T c.(1231-1233)TGG>TGT p.W411C SLC38A2_uc010sli.1_Missense_Mutation_p.W249C|SLC38A2_uc001rph.2_Missense_Mutation_p.W311C NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 411 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) GACTATGACGCCACCAACTGA 0.318 24 101 --- --- --- --- PASS EIF4B 1975 broad.mit.edu 37 12 53421697 53421697 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr12:53421697G>C uc001sbh.3 + 7 1005 c.799G>C c.(799-801)GAT>CAT p.D267H EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.D267H|EIF4B_uc010snv.1_Missense_Mutation_p.D228H|EIF4B_uc001sbi.2_Missense_Mutation_p.D19H NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 267 Arg-rich.|Asp-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 CAGAGACTATGATAGAGGTAA 0.363 43 103 --- --- --- --- PASS HAL 3034 broad.mit.edu 37 12 96379721 96379721 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr12:96379721C>T uc001tem.1 - 14 1468 c.1171G>A c.(1171-1173)GTC>ATC p.V391I HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.V183I|HAL_uc010sux.1_Missense_Mutation_p.V391I NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 391 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) GCATCCTGGACGCGATCACAG 0.418 6 101 --- --- --- --- PASS PITPNM2 57605 broad.mit.edu 37 12 123481933 123481933 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr12:123481933G>A uc001uej.1 - 10 1550 c.1411C>T c.(1411-1413)CTT>TTT p.L471F PITPNM2_uc001uek.1_Missense_Mutation_p.L471F NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 471 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CGGATGGCAAGGCGGCCCAGG 0.667 12 97 --- --- --- --- PASS KIAA0831 22863 broad.mit.edu 37 14 55878363 55878363 + Nonsense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr14:55878363G>A uc001xbx.1 - 1 214 c.178C>T c.(178-180)CAG>TAG p.Q60* FBXO34_uc001xbv.2_Intron NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 60 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 TCGCCGCTCTGAACGCATTTG 0.662 8 13 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65218954 65218954 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr14:65218954C>T uc010aqi.2 - 15 2680 c.2665G>A c.(2665-2667)GAA>AAA p.E889K SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron NM_001024858 NP_001020029 P11277 SPTB1_HUMAN spectrin beta isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGCTGCATTTCTACAGCAACA 0.363 10 16 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65219028 65219028 + Missense_Mutation SNP C G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr14:65219028C>G uc010aqi.2 - 15 2606 c.2591G>C c.(2590-2592)GGA>GCA p.G864A SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron NM_001024858 NP_001020029 P11277 SPTB1_HUMAN spectrin beta isoform a Error:Variant_position_missing_in_P11277_after_alignment actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) tccctcttctccctTACTTTT 0.219 6 9 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93142874 93142874 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr14:93142874G>A uc001yap.2 + 8 2542 c.2390G>A c.(2389-2391)CGC>CAC p.R797H RIN3_uc010auk.2_Missense_Mutation_p.R459H|RIN3_uc001yaq.2_Missense_Mutation_p.R722H|RIN3_uc001yas.1_Missense_Mutation_p.R459H NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 797 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) GTGCTGGCCCGCAGCAACCTC 0.602 15 97 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102445718 102445718 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr14:102445718G>A uc001yks.2 + 3 571 c.407G>A c.(406-408)CGG>CAG p.R136Q NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 136 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TCTCAGCTCCGGGTCCTTACA 0.403 48 233 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31334348 31334348 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr15:31334348C>T uc001zfm.2 - 16 1955 c.1827G>A c.(1825-1827)CAG>CAA p.Q609Q TRPM1_uc010azy.2_Silent_p.Q516Q|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 609 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGAAGGGATACTGGAACCGAC 0.473 11 16 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41862298 41862298 + Silent SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr15:41862298G>A uc001zof.1 + 10 1550 c.1326G>A c.(1324-1326)ACG>ACA p.T442T NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 442 Helical; (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CCCTGGTGACGGCTGCTGCCC 0.612 9 64 --- --- --- --- PASS AP3S2 10239 broad.mit.edu 37 15 90378852 90378852 + Silent SNP C A A rs112739850 byFrequency TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr15:90378852C>A uc002boq.3 - 6 913 c.477G>T c.(475-477)GCG>GCT p.A159A AP3S2_uc002bos.3_Silent_p.A360A|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_RNA NM_005829 NP_005820 P59780 AP3S2_HUMAN adaptor-related protein complex 3, sigma 2 159 intracellular protein transport|vesicle-mediated transport cytoplasmic vesicle membrane|Golgi apparatus|membrane coat protein transporter activity 0 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) ACACAGCCCGCGCAGGGGCTG 0.438 54 121 --- --- --- --- PASS SPNS1 83985 broad.mit.edu 37 16 28992923 28992923 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr16:28992923G>T uc010vdi.1 + 7 936 c.796G>T c.(796-798)GCT>TCT p.A266S uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.A193S|SPNS1_uc002dsa.2_Missense_Mutation_p.A266S|SPNS1_uc002drz.2_Missense_Mutation_p.A266S|SPNS1_uc010byp.2_Missense_Mutation_p.A244S|SPNS1_uc010byq.1_Missense_Mutation_p.A198S NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 266 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 AGATCTGAGGGCTCTGGCAAG 0.602 OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 158 --- --- --- --- PASS ITGAE 3682 broad.mit.edu 37 17 3704418 3704418 + Silent SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr17:3704418C>A uc002fwo.3 - 1 120 c.21G>T c.(19-21)CTG>CTT p.L7L NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 7 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CTATGCAGAGCAGAGTGTGGA 0.627 18 20 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C A A rs55863639 TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (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.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537 111 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) 31 55 --- --- --- --- PASS RARA 5914 broad.mit.edu 37 17 38510742 38510742 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr17:38510742C>T uc002huk.1 + 7 1451 c.996C>T c.(994-996)ATC>ATT p.I332I RARA_uc002hul.3_Silent_p.I332I|RARA_uc010wfe.1_Silent_p.I235I|RARA_uc002hun.1_Silent_p.I327I NM_000964 NP_000955 P10276 RARA_HUMAN retinoic acid receptor, alpha isoform 1 332 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) TCAGCGCCATCTGCCTCATCT 0.682 T PML|ZNF145|TIF1|NUMA1|NPM1 APL 14 47 --- --- --- --- PASS CCDC57 284001 broad.mit.edu 37 17 80136939 80136939 + Missense_Mutation SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr17:80136939C>A uc002kdz.1 - 10 1693 c.1338G>T c.(1336-1338)GAG>GAT p.E446D CCDC57_uc002kdx.1_Missense_Mutation_p.E446D|CCDC57_uc010dik.1_Intron NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 446 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GAATCAGGGCCTCTGACTTTT 0.622 20 49 --- --- --- --- PASS ZCCHC2 54877 broad.mit.edu 37 18 60241410 60241410 + Missense_Mutation SNP A C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr18:60241410A>C uc002lip.3 + 13 2096 c.2096A>C c.(2095-2097)GAG>GCG p.E699A ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.E169A NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 699 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 CTAGGAAATGAGAATGGAAAC 0.423 113 300 --- --- --- --- PASS CNN1 1264 broad.mit.edu 37 19 11660497 11660497 + Missense_Mutation SNP T G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:11660497T>G uc002msc.1 + 7 945 c.781T>G c.(781-783)TAT>GAT p.Y261D CNN1_uc010xmb.1_Missense_Mutation_p.Y211D|CNN1_uc010xmc.1_Missense_Mutation_p.Y211D NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 261 Calponin-like 3. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 CATGACGGTGTATGGGCTGCC 0.632 3 62 --- --- --- --- PASS ZNF443 10224 broad.mit.edu 37 19 12541874 12541874 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:12541874C>T uc002mtu.2 - 4 1310 c.1112G>A c.(1111-1113)GGG>GAG p.G371E NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 371 C2H2-type 9. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 AAAGCCTTTCCCACATATCTT 0.423 105 332 --- --- --- --- PASS DCAF15 90379 broad.mit.edu 37 19 14069908 14069908 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:14069908C>T uc002mxt.2 + 7 842 c.836C>T c.(835-837)GCG>GTG p.A279V DCAF15_uc002mxu.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 279 central_nervous_system(1) 1 TGCCCCCTGGCGCCTGCCAGC 0.657 8 132 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19338756 19338756 + Missense_Mutation SNP A T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:19338756A>T uc002nlz.2 + 8 2426 c.2327A>T c.(2326-2328)GAT>GTT p.D776V NCAN_uc010ecc.1_Missense_Mutation_p.D340V NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 776 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GCCACTGTAGATGAGGTGCAG 0.612 37 139 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22942393 22942393 + Silent SNP A G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:22942393A>G uc010xrh.1 - 4 381 c.381T>C c.(379-381)TGT>TGC p.C127C NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTCCACATCTTGCAT 0.323 25 101 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 39019663 39019663 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:39019663C>T uc002oit.2 + 76 11237 c.11107C>T c.(11107-11109)CTG>TTG p.L3703L RYR1_uc002oiu.2_Silent_p.L3698L|RYR1_uc002oiv.1_Silent_p.L618L|RYR1_uc010xuf.1_Silent_p.L623L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3703 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) CCAGTTGGTCCTGCACTTCAG 0.517 9 38 --- --- --- --- PASS SIRT2 22933 broad.mit.edu 37 19 39384061 39384061 + Missense_Mutation SNP G T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:39384061G>T uc002ojt.1 - 4 419 c.219C>A c.(217-219)AGC>AGA p.S73R SIRT2_uc010egh.1_Missense_Mutation_p.S36R|SIRT2_uc010egi.1_Missense_Mutation_p.S36R|SIRT2_uc002ojs.1_Missense_Mutation_p.S53R|SIRT2_uc002oju.1_Missense_Mutation_p.S36R|SIRT2_uc010egj.1_Missense_Mutation_p.S36R|SIRT2_uc002ojv.1_Missense_Mutation_p.S73R NM_012237 NP_036369 Q8IXJ6 SIRT2_HUMAN sirtuin 2 isoform 1 73 Deacetylase sirtuin-type. cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) CACAGCGTTCGCTCTGCATGT 0.587 11 43 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40420081 40420081 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:40420081C>T uc002omp.3 - 6 2921 c.2913G>A c.(2911-2913)GTG>GTA p.V971V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 971 VWFD 2. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGTCCGTGCGCACGACGGCAT 0.592 13 94 --- --- --- --- PASS CRX 1406 broad.mit.edu 37 19 48342889 48342889 + Missense_Mutation SNP G A A rs142111462 TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:48342889G>A uc002phq.3 + 4 769 c.565G>A c.(565-567)GCC>ACC p.A189T NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 189 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TCTGACCTCCGCCCCCTATGC 0.667 17 109 --- --- --- --- PASS TMC4 147798 broad.mit.edu 37 19 54664257 54664257 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:54664257G>C uc010erf.2 - 14 2149 c.2017C>G c.(2017-2019)CTG>GTG p.L673V LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.L387V|TMC4_uc002qdo.2_Missense_Mutation_p.L667V NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 673 Helical; (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) gagttagccagAGCCACAGTG 0.418 12 94 --- --- --- --- PASS FAM113A 64773 broad.mit.edu 37 20 2818880 2818880 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr20:2818880G>A uc002wgz.1 - 6 1336 c.839C>T c.(838-840)CCT>CTT p.P280L FAM113A_uc002whb.1_Missense_Mutation_p.P131L|FAM113A_uc002wha.1_Missense_Mutation_p.P131L|FAM113A_uc010zqa.1_Missense_Mutation_p.P127L|FAM113A_uc002whc.1_Missense_Mutation_p.P229L|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN hypothetical protein LOC64773 280 hydrolase activity|protein binding ovary(2) 2 GGGCTCACCAGGGGGATAGCC 0.617 24 157 --- --- --- --- PASS CDC25B 994 broad.mit.edu 37 20 3782409 3782409 + Missense_Mutation SNP G C C TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr20:3782409G>C uc002wjn.2 + 9 1659 c.881G>C c.(880-882)AGT>ACT p.S294T CDC25B_uc010zqk.1_Missense_Mutation_p.S230T|CDC25B_uc010zql.1_Missense_Mutation_p.S216T|CDC25B_uc010zqm.1_Intron|CDC25B_uc002wjl.2_Missense_Mutation_p.S182T|CDC25B_uc002wjm.2_Missense_Mutation_p.S182T|CDC25B_uc002wjo.2_Missense_Mutation_p.S280T|CDC25B_uc002wjp.2_Missense_Mutation_p.S253T|CDC25B_uc002wjq.2_Missense_Mutation_p.S94T|CDC25B_uc010gbc.2_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 294 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 AGTCTCATTAGTGCCCCACTG 0.572 15 50 --- --- --- --- PASS C20orf12 55184 broad.mit.edu 37 20 18374420 18374420 + Missense_Mutation SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr20:18374420C>T uc010zsa.1 - 17 2010 c.1801G>A c.(1801-1803)GAA>AAA p.E601K C20orf12_uc010zrz.1_Missense_Mutation_p.E120K|C20orf12_uc002wqp.3_Missense_Mutation_p.E292K|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E468K|C20orf12_uc002wqq.3_Missense_Mutation_p.E582K NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 409 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) TTGATTTTTTCAATAGTATCT 0.388 30 62 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33296887 33296887 + Silent SNP C T T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr21:33296887C>T uc002yph.2 + 2 729 c.369C>T c.(367-369)ATC>ATT p.I123I NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 123 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 ACCCCAATATCACTCAGCTCC 0.478 16 79 --- --- --- --- PASS SYNJ1 8867 broad.mit.edu 37 21 34003386 34003386 + Silent SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr21:34003386C>A uc002yqh.2 - 32 4758 c.4758G>T c.(4756-4758)CCG>CCT p.P1586P SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.P1500P|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.P172P NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1547 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TGGTGCCGGGCGGGAGCAGAG 0.507 27 93 --- --- --- --- PASS AIRE 326 broad.mit.edu 37 21 45706878 45706878 + Missense_Mutation SNP C A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr21:45706878C>A uc002zei.2 + 3 452 c.325C>A c.(325-327)CCC>ACC p.P109T NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 109 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) CCTCAGCCAGCCCCGGAAGGG 0.667 Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 4 61 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32297747 32297747 + Nonsense_Mutation SNP C G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr22:32297747C>G uc003als.2 + 40 4444 c.4302C>G c.(4300-4302)TAC>TAG p.Y1434* DEPDC5_uc011als.1_Nonsense_Mutation_p.Y1365*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.Y1465*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.Y1456*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.Y883*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.Y732*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.Y282*|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.Y460*|DEPDC5_uc011aly.1_Nonsense_Mutation_p.Y282* NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1434 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 CCGAAACGTACTGGGATCGAA 0.428 8 38 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23019367 23019367 + Missense_Mutation SNP G A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chrX:23019367G>A uc004daj.2 + 1 1281 c.1193G>A c.(1192-1194)CGC>CAC p.R398H NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 398 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 TTAGATGTGCGCCCAGACCGA 0.393 12 667 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - GAT GAT rs140335395 by1000genomes TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr3:195512373_195512374insGAT uc011bto.1 - 2 6537_6538 c.6077_6078insATC c.(6076-6078)TCC>TCATCC p.2026_2026S>SS MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 798 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCACCAGTGGATGCTGAGGA 0.579 4 2 --- --- --- --- KRBA1 84626 broad.mit.edu 37 7 149419581 149419581 + Frame_Shift_Del DEL C - - TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr7:149419581delC uc003wfz.2 + 6 934 c.535delC c.(535-537)CCCfs p.P179fs KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 179 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCAGCCCTCCCACCCATAG 0.627 16 7 --- --- --- --- LOC284232 284232 broad.mit.edu 37 13 19420047 19420053 + RNA DEL TTCGTAT - - rs117180361 by1000genomes TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr13:19420047_19420053delTTCGTAT uc010tcj.1 - 1 c.26057_26063delATACGAA NR_027995 Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA. 0 ATAACATTTCTTCGTATTTTATATTTT 0.246 10 5 --- --- --- --- KIAA0284 283638 broad.mit.edu 37 14 105353958 105353959 + Frame_Shift_Ins INS - G G TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr14:105353958_105353959insG uc010axb.2 + 12 3606_3607 c.3382_3383insG c.(3382-3384)CGGfs p.R1128fs INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Frame_Shift_Ins_p.R1058fs|KIAA0284_uc001yps.2_Frame_Shift_Ins_p.R1034fs|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1128 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CCGGCTGAGGCGGGCCCGGCTG 0.733 4 2 --- --- --- --- RTN4RL1 146760 broad.mit.edu 37 17 1840292 1840292 + Frame_Shift_Del DEL C - - TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr17:1840292delC uc002ftp.2 - 2 843 c.824delG c.(823-825)GGCfs p.G275fs NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 precursor 275 LRRCT. axon regeneration anchored to plasma membrane receptor activity 0 GGAGCTGGAGCCCCGGAACCT 0.706 6 4 --- --- --- --- SMCR8 140775 broad.mit.edu 37 17 18221387 18221392 + In_Frame_Del DEL AAGCCC - - TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr17:18221387_18221392delAAGCCC uc002gsy.3 + 1 2794_2799 c.2284_2289delAAGCCC c.(2284-2289)AAGCCCdel p.KP762del NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 762_763 central_nervous_system(1) 1 CTGCTACGCTAAGCCCGTGAAACATT 0.539 94 44 --- --- --- --- PTOV1 53635 broad.mit.edu 37 19 50358117 50358118 + Frame_Shift_Ins INS - A A TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 6662dd1b-3e4f-4b7a-b603-cfa7fd92fc30 43753f7f-fa3a-4a0f-890e-919b92ff4e6f g.chr19:50358117_50358118insA uc002pqf.1 + 4 592_593 c.422_423insA c.(421-423)ATCfs p.I141fs PTOV1_uc010ybf.1_Frame_Shift_Ins_p.I109fs|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Frame_Shift_Ins_p.I109fs|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CAGAAGCTGATCATGCAGCTGA 0.658 53 31 --- --- --- ---