Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut ATAD3B 83858 broad.mit.edu 37 1 1430870 1430870 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:1430870G>A uc001afv.2 + 16 1721 c.1620G>A c.(1618-1620)ACG>ACA p.T540T ATAD3B_uc001afx.2_Silent_p.T494T|ATAD3B_uc001afy.2_Silent_p.T93T NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 540 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACTAGGCCACGGCATATGCCT 0.632 NA 23 15 0 0 0 0 SLC35E2 9906 broad.mit.edu 37 1 1670363 1670363 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:1670363C>T uc001aib.1 - 3 872 c.456G>A c.(454-456)ATG>ATA p.M152I SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Missense_Mutation_p.M152I|SLC35E2_uc001ahy.2_Missense_Mutation_p.M152I|SLC35E2_uc001ahz.2_Missense_Mutation_p.M152I NM_182838 NP_878258 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 152 Helical; (Potential). integral to membrane pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTCTTTACCTCATCAGACCCA 0.473 NA 8 28 0 0 0 0 AJAP1 55966 broad.mit.edu 37 1 4772252 4772252 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:4772252G>C uc001alm.1 + 2 703 c.322G>C c.(322-324)GCG>CCG p.A108P AJAP1_uc001aln.2_Missense_Mutation_p.A108P NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 108 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCGGGACCAGGCGGCCGCCCT 0.736 NA 2 7 0 0 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723703 7723703 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:7723703C>A uc001aoi.2 + 9 1303 c.1096C>A c.(1096-1098)CTC>ATC p.L366I NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CAGCAGCGGGCTCAACAGCGA 0.662 NA 33 60 1.04e-10 1.32e-10 1 0 KIAA2013 90231 broad.mit.edu 37 1 11982754 11982754 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:11982754A>C uc001atk.2 - 2 2020 c.1826T>G c.(1825-1827)CTC>CGC p.L609R KIAA2013_uc001atl.1_Missense_Mutation_p.L609R NM_138346 NP_612355 Q8IYS2 K2013_HUMAN hypothetical protein LOC90231 precursor 609 Helical; (Potential). integral to membrane ovary(1) 1 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCTTGAAGAGGAAGAGGTG 0.597 NA 10 20 0 0 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854287 12854287 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:12854287G>A uc001auj.1 + 3 614 c.511G>A c.(511-513)GTT>ATT p.V171I NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 171 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCAGTGGGTTTACCAAAG 0.433 NA 83 283 0 0 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939515 12939515 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:12939515G>T uc001aun.2 - 4 1358 c.1287C>A c.(1285-1287)TGC>TGA p.C429* NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 429 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTCCAGCAGAGAGTAC 0.512 NA 97 173 1.1e-53 1.62e-53 1 0 CLCNKB 1188 broad.mit.edu 37 1 16378026 16378026 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:16378026G>T uc001axw.3 + 13 1361 c.1281G>T c.(1279-1281)ATG>ATT p.M427I FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.M427I|CLCNKB_uc001axy.3_Missense_Mutation_p.M258I NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 427 Helical; (Potential). excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 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;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GGTACTTCATGCCCATCTTTG 0.592 NA 48 104 1.65e-34 2.41e-34 1 0 CAPZB 832 broad.mit.edu 37 1 19671737 19671737 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:19671737C>G uc010ocz.1 - 7 1113 c.685G>C c.(685-687)GAT>CAT p.D229H CAPZB_uc001bce.2_Missense_Mutation_p.D200H|CAPZB_uc009vpk.2_Missense_Mutation_p.D226H|CAPZB_uc001bcd.2_Missense_Mutation_p.D188H NM_004930 NP_004921 P47756 CAPZB_HUMAN F-actin capping protein beta subunit 200 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding 0 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) ACAGTTTCATCCTTCTCCATC 0.557 NA 4 110 0 0 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510929 26510929 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:26510929C>T uc001bln.3 + 12 1117 c.1059C>T c.(1057-1059)CCC>CCT p.P353P CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.P346P|CNKSR1_uc009vsd.2_Silent_p.P88P|CNKSR1_uc009vse.2_Silent_p.P88P|CNKSR1_uc001blo.2_Silent_p.P88P NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 353 Pro-rich. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TGCCCATCCCCCCGGAACCCC 0.637 NA 13 17 0 0 0 0 MATN1 4146 broad.mit.edu 37 1 31187158 31187158 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:31187158G>A uc001brz.2 - 7 1411 c.1377C>T c.(1375-1377)GCC>GCT p.A459A MATN1_uc001bsa.1_Silent_p.A377A NM_002379 NP_002370 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein precursor 459 protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1) 1 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) GGGACTCGCAGGCACACGGGT 0.627 NA 4 13 0 0 0 0 SPOCD1 90853 broad.mit.edu 37 1 32267266 32267266 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:32267266T>C uc001bts.1 - 3 1482 c.1424A>G c.(1423-1425)TAC>TGC p.Y475C SPOCD1_uc001btt.2_5'Flank|SPOCD1_uc001btu.2_Missense_Mutation_p.Y475C|SPOCD1_uc001btv.2_5'UTR NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 475 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AAAACCTACGTAGCACACAAG 0.507 NA 22 57 0 0 0 0 TIE1 7075 broad.mit.edu 37 1 43772569 43772569 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:43772569G>C uc001ciu.2 + 4 622 c.543G>C c.(541-543)CAG>CAC p.Q181H TIE1_uc010okd.1_Missense_Mutation_p.Q181H|TIE1_uc010oke.1_Missense_Mutation_p.Q136H|TIE1_uc009vwq.2_Missense_Mutation_p.Q181H|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010okb.1_Missense_Mutation_p.Q181H|TIE1_uc010okc.1_Missense_Mutation_p.Q181H NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 181 Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCCTGCTGCAGCTCCCAAATG 0.607 NA 18 46 0 0 0 0 CC2D1B 200014 broad.mit.edu 37 1 52826198 52826198 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:52826198G>A uc001ctq.1 - 6 639 c.501C>T c.(499-501)CAC>CAT p.H167H CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'Flank NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 167 Potential. ovary(2) 2 CCAGCAAAGCGTGTAGCCCCT 0.632 NA 11 23 0 0 0 0 LRRC7 57554 broad.mit.edu 37 1 70300502 70300502 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:70300502G>T uc001dep.2 + 4 456 c.426G>T c.(424-426)CAG>CAT p.Q142H LRRC7_uc001deo.1_Missense_Mutation_p.Q180H|LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 142 LRR 6. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ACCTGACCCAGCTCTACCTGA 0.358 NA 23 47 6.21e-17 8.51e-17 1 0 C1orf173 127254 broad.mit.edu 37 1 75097586 75097586 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:75097586C>A uc001dgg.2 - 7 849 c.630G>T c.(628-630)AGG>AGT p.R210S C1orf173_uc001dgi.3_Missense_Mutation_p.R4S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 210 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTATGGAGTTCCTGAACTTCA 0.393 NA 39 51 1.47e-24 2.1e-24 1 0 FAM73A 374986 broad.mit.edu 37 1 78332059 78332059 + Nonsense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:78332059A>T uc001dhx.2 + 14 1578 c.1546A>T c.(1546-1548)AAA>TAA p.K516* FAM73A_uc010ork.1_Nonsense_Mutation_p.K516*|FAM73A_uc010orl.1_Nonsense_Mutation_p.K478* NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 516 integral to membrane ovary(1) 1 Colorectal(170;0.226) GCTGAAACAGAAAAGACAACA 0.353 NA 28 69 0 0 0 0 LPHN2 23266 broad.mit.edu 37 1 82416749 82416749 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:82416749A>G uc001dit.3 + 8 1721 c.1540A>G c.(1540-1542)AAG>GAG p.K514E LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K514E|LPHN2_uc001div.2_Missense_Mutation_p.K514E|LPHN2_uc009wcd.2_Missense_Mutation_p.K514E|LPHN2_uc001diw.2_Missense_Mutation_p.K85E NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 514 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATGGAACCCTAAGGGCCCCGA 0.438 NA 29 67 0 0 0 0 CLCA1 1179 broad.mit.edu 37 1 86961284 86961284 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:86961284G>A uc001dlt.2 + 12 2168 c.2039G>A c.(2038-2040)GGA>GAA p.G680E NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 680 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCTCTGGGAGGAGTTAACGCA 0.463 NA 22 40 0 0 0 0 EVI5 7813 broad.mit.edu 37 1 93167773 93167773 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:93167773C>A uc001dox.2 - 5 707 c.697_splice c.e5-1 p.A233_splice EVI5_uc010otf.1_Splice_Site_p.A233_splice NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AAGAGTAAGCCTAAAAAGTAA 0.303 NA 15 21 1.05e-09 1.31e-09 1 0 GNAI3 2773 broad.mit.edu 37 1 110129355 110129355 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:110129355G>A uc001dxz.2 + 7 882 c.725G>A c.(724-726)CGA>CAA p.R242Q NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 242 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity ovary(1) 1 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) TTTCAGAACCGAATGCATGAA 0.318 NA 16 26 0 0 0 0 WARS2 10352 broad.mit.edu 37 1 119575893 119575893 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:119575893C>A uc001ehn.2 - 6 752 c.724G>T c.(724-726)GAC>TAC p.D242Y WARS2_uc010oxf.1_Missense_Mutation_p.D148Y|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.D185Y|WARS2_uc010oxh.1_3'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 242 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TCTGGGCTGTCTGTTATTCGG 0.517 NA 50 91 4.01e-20 5.57e-20 1 0 SNX27 81609 broad.mit.edu 37 1 151611499 151611499 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:151611499G>T uc001eyn.1 + 2 463 c.447G>T c.(445-447)TCG>TCT p.S149S SNX27_uc001eyo.2_Silent_p.S56S|SNX27_uc001eyp.2_5'UTR NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 149 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTGACGACTCGTTGGGACAAT 0.468 NA 25 53 1.64e-13 2.17e-13 1 0 LINGO4 339398 broad.mit.edu 37 1 151774763 151774763 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:151774763G>A uc001ezf.1 - 2 608 c.418C>T c.(418-420)CGC>TGC p.R140C NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 140 Extracellular (Potential).|LRR 4. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGGTTGAGGCGGAGGTCCAGC 0.582 NA 35 69 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152284331 152284331 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:152284331C>G uc001ezu.1 - 3 3067 c.3031G>C c.(3031-3033)GAG>CAG p.E1011Q uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1011 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGAAGTCTCTGCGTGAGGA 0.582 NA Ichthyosis 138 260 0 0 0 0 OR10T2 128360 broad.mit.edu 37 1 158369186 158369186 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:158369186A>T uc010pih.1 - 1 71 c.71T>A c.(70-72)CTC>CAC p.L24H NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CAGCAGCTGGAGCTCCCCCAG 0.483 NA 11 29 0 0 0 0 IGSF9 57549 broad.mit.edu 37 1 159898079 159898079 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:159898079G>A uc001fur.2 - 19 3297 c.3099C>T c.(3097-3099)TTC>TTT p.F1033F IGSF9_uc001fuq.2_Silent_p.F1017F|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.F179F NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 1033 Cytoplasmic (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGGCCGCAGGAACGAAGCGC 0.697 NA 13 17 0 0 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599754 161599754 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:161599754G>C uc009wul.2 - 3 407 c.133C>G c.(133-135)CTG>GTG p.L45V NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 45 Ig-like C2-type 1. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGGCACTTCAGAGTCACACTG 0.532 NA 24 74 0 0 0 0 PRRX1 5396 broad.mit.edu 37 1 170633413 170633413 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:170633413C>A uc001ghf.2 + 1 101 c.54C>A c.(52-54)CGC>CGA p.R18R PRRX1_uc001ghe.2_Silent_p.R18R NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b 18 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGGCGGCCGCTTGGACAGCC 0.662 NA 14 19 6.32e-08 7.58e-08 1 0 TNN 63923 broad.mit.edu 37 1 175092651 175092651 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:175092651T>A uc001gkl.1 + 12 2879 c.2766T>A c.(2764-2766)GCT>GCA p.A922A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 922 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACACCTCTGCTGACGGAGAGA 0.597 NA 17 59 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526361 176526361 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:176526361C>A uc001gkz.2 + 2 2067 c.903C>A c.(901-903)AAC>AAA p.N301K PAPPA2_uc001gky.1_Missense_Mutation_p.N301K|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 301 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GACAGAACAACCCAGCCATCA 0.577 NA 4 13 0.000602214 0.000648391 1 0 F13B 2165 broad.mit.edu 37 1 197030098 197030098 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:197030098C>A uc001gtt.1 - 4 603 c.559G>T c.(559-561)GCT>TCT p.A187S NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 187 Sushi 3. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTTCCTCCAGCTGTGTAGTAG 0.388 NA 30 84 3.17e-13 4.17e-13 1 0 PTPRC 5788 broad.mit.edu 37 1 198687375 198687375 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:198687375A>G uc001gur.1 + 14 1777 c.1597A>G c.(1597-1599)AAG>GAG p.K533E PTPRC_uc001gus.1_Missense_Mutation_p.K485E|PTPRC_uc001gut.1_Missense_Mutation_p.K372E|PTPRC_uc009wzf.1_Missense_Mutation_p.K421E|PTPRC_uc010ppg.1_Missense_Mutation_p.K469E NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 533 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TGAGTCGCATAAGAATTGCGA 0.398 NA 12 22 0 0 0 0 KIF21B 23046 broad.mit.edu 37 1 200954076 200954076 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:200954076G>C uc001gvs.1 - 27 4031 c.3714C>G c.(3712-3714)CCC>CCG p.P1238P KIF21B_uc001gvr.1_Silent_p.P1238P|KIF21B_uc009wzl.1_Silent_p.P1238P|KIF21B_uc010ppn.1_Silent_p.P1238P NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1238 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GGGATGATGGGGGTGTGAATC 0.612 NA 14 52 0 0 0 0 AVPR1B 553 broad.mit.edu 37 1 206224591 206224591 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:206224591G>C uc001hds.2 + 1 309 c.151G>C c.(151-153)GGC>CGC p.G51R NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 51 Helical; Name=1; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GGCGACCGGGGGCAACCTGGC 0.682 NA 21 59 0 0 0 0 IL24 11009 broad.mit.edu 37 1 207072725 207072725 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:207072725C>A uc001hes.1 + 3 379 c.105C>A c.(103-105)TGC>TGA p.C35* IL24_uc001het.1_Intron|IL24_uc001heu.1_Nonsense_Mutation_p.C36*|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Nonsense_Mutation_p.C36*|IL24_uc001hex.1_Intron NM_006850 NP_006841 Q13007 IL24_HUMAN interleukin 24 isoform 1 precursor 35 apoptosis extracellular space cytokine activity 0 Breast(84;0.201) TGCTCCCTTGCCTGGGTTTTA 0.592 NA 22 46 1.18e-14 1.58e-14 1 0 CR2 1380 broad.mit.edu 37 1 207649656 207649656 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:207649656G>A uc001hfw.2 + 14 2711 c.2617G>A c.(2617-2619)GGA>AGA p.G873R CR2_uc001hfv.2_Missense_Mutation_p.G932R|CR2_uc009xch.2_Intron NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 873 Sushi 14.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 ATTTTCTCCTGGAATGTCAAT 0.527 NA 25 76 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215901506 215901506 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:215901506C>G uc001hku.1 - 61 12319 c.11932G>C c.(11932-11934)GCT>CCT p.A3978P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3978 Fibronectin type-III 25.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACTGAATGAGCACTCGTGGCT 0.488 NA HNSCC(13;0.011) 37 63 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216019335 216019335 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:216019335A>T uc001hku.1 - 45 9273 c.8886T>A c.(8884-8886)CTT>CTA p.L2962L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2962 Fibronectin type-III 16.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AACTCCAAAAAAGTGTGTAAT 0.398 NA HNSCC(13;0.011) 11 26 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240255689 240255689 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:240255689C>T uc010pyd.1 + 1 505 c.280C>T c.(280-282)CGC>TGC p.R94C FMN2_uc010pye.1_Missense_Mutation_p.R94C NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 94 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGGCGGCTCCCGCGAAGATGT 0.622 NA 7 14 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240601394 240601394 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:240601394A>T uc010pyd.1 + 16 5169 c.4944A>T c.(4942-4944)AAA>AAT p.K1648N FMN2_uc010pye.1_Missense_Mutation_p.K1652N|FMN2_uc010pyg.1_Missense_Mutation_p.K244N NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1648 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCTTCATGAAACCAAAACTTG 0.383 NA 38 76 0 0 0 0 CEP170 9859 broad.mit.edu 37 1 243289810 243289810 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:243289810T>C uc001hzs.2 - 20 5104 c.4696A>G c.(4696-4698)ATA>GTA p.I1566V CEP170_uc001hzt.2_Missense_Mutation_p.I1442V|CEP170_uc001hzu.2_Missense_Mutation_p.I1468V|CEP170_uc001hzr.2_Missense_Mutation_p.I155V|CEP170_uc001hzv.1_Intron NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1566 Targeting to microtubules.|Targeting to centrosomes. centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TTGAAATGTATACTGAAATCA 0.438 NA 9 16 0 0 0 0 OR11L1 391189 broad.mit.edu 37 1 248004808 248004808 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248004808G>T uc001idn.1 - 1 391 c.391C>A c.(391-393)CGC>AGC p.R131S NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGGGGTAGCGGAGTGGGCTG 0.587 NA 12 29 5.51e-06 6.26e-06 1 0 OR11L1 391189 broad.mit.edu 37 1 248005080 248005080 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248005080A>G uc001idn.1 - 1 119 c.119T>C c.(118-120)ATA>ACA p.I40T NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AACATTCCCTATAATGGTCAG 0.502 NA 14 28 0 0 0 0 OR2T11 127077 broad.mit.edu 37 1 248790416 248790416 + Nonsense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248790416G>C uc001ier.1 - 1 14 c.14C>G c.(13-15)TCA>TGA p.S5* NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCAGAGGATGATGTGTTCGT 0.547 NA 17 44 0 0 0 0 OR2T27 403239 broad.mit.edu 37 1 248813780 248813780 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr1:248813780T>A uc010pzo.1 - 1 406 c.406A>T c.(406-408)ATG>TTG p.M136L NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGCGGCTCATGAGGACAGGA 0.557 NA 20 48 0 0 0 0 SEPHS1 22929 broad.mit.edu 37 10 13378324 13378324 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:13378324G>A uc001imk.2 - 4 683 c.324C>T c.(322-324)CTC>CTT p.L108L SEPHS1_uc001imh.2_Silent_p.L32L|SEPHS1_uc010qbs.1_Silent_p.L60L|SEPHS1_uc001imi.2_Silent_p.L108L|SEPHS1_uc001imj.2_Silent_p.L108L|SEPHS1_uc010qbt.1_Silent_p.L41L|SEPHS1_uc009xje.2_Silent_p.L108L NM_012247 NP_036379 P49903 SPS1_HUMAN selenophosphate synthetase 1 108 protein modification process ATP binding|GTP binding|selenide, water dikinase activity skin(1) 1 AGAGGTCACTGAGGACATTGG 0.517 NA 10 69 0 0 0 0 C1QL3 389941 broad.mit.edu 37 10 16562732 16562732 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:16562732G>A uc001ioj.1 - 1 1273 c.333C>T c.(331-333)AAC>AAT p.N111N NM_001010908 NP_001010908 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 111 Collagen-like. collagen ovary(1) 1 CCCCGGCCGCGTTCAggccgg 0.632 NA 6 48 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16870935 16870935 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:16870935C>G uc001ioo.2 - 66 10685 c.10633G>C c.(10633-10635)GCT>CCT p.A3545P NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3545 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCCTTCCAGCAGGAGCAACA 0.522 NA 65 44 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16916401 16916401 + Missense_Mutation SNP C C A rs144314567 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:16916401C>A uc001ioo.2 - 58 9260 c.9208G>T c.(9208-9210)GTT>TTT p.V3070F CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.V426F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3070 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCGTCACTAACGGTGATGGTA 0.403 NA 27 156 0.000117367 0.000128836 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24880577 24880577 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:24880577C>A uc001isb.2 - 23 4525 c.4038G>T c.(4036-4038)GAG>GAT p.E1346D ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1345 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TTACAAGAGGCTCTTCAGCAC 0.393 NA 33 161 8.74e-17 1.19e-16 1 0 GPR158 57512 broad.mit.edu 37 10 25885717 25885717 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:25885717G>A uc001isj.2 + 10 2204 c.2144G>A c.(2143-2145)CGG>CAG p.R715Q GPR158_uc001isk.2_Missense_Mutation_p.R90Q NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 715 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GAGGACATTCGGGTAATGCCA 0.488 NA 87 63 0 0 0 0 RET 5979 broad.mit.edu 37 10 43608405 43608405 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:43608405T>A uc001jal.2 + 9 1943 c.1753T>A c.(1753-1755)TGC>AGC p.C585S RET_uc001jak.1_Missense_Mutation_p.C585S|RET_uc010qez.1_Missense_Mutation_p.C331S NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 585 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CCCTCAGGACTGCCTCCGTAA 0.572 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 13 27 0 0 0 0 C10orf72 196740 broad.mit.edu 37 10 50255035 50255035 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:50255035A>C uc001jhf.2 - 7 859 c.830T>G c.(829-831)GTC>GGC p.V277G NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 277 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 TACCAGCGTGACTTTTCTCTG 0.453 NA 60 143 0 0 0 0 SGMS1 259230 broad.mit.edu 37 10 52103623 52103623 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:52103623G>A uc001jje.2 - 7 1206 c.252C>T c.(250-252)CAC>CAT p.H84H SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Silent_p.H84H|SGMS1_uc010qhl.1_RNA NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 90 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity ovary(1)|kidney(1) 2 CAATGTTGAGGTGCCCATTGG 0.512 NA 22 54 0 0 0 0 ANK3 288 broad.mit.edu 37 10 61828625 61828625 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:61828625C>T uc001jky.2 - 37 12206 c.12014G>A c.(12013-12015)GGT>GAT p.G4005D ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 4005 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TAAGGTCTCACCACTAATTCC 0.368 NA 38 88 0 0 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687991 68687991 + Nonsense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:68687991C>G uc001jmz.1 + 2 1867 c.1317C>G c.(1315-1317)TAC>TAG p.Y439* CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Nonsense_Mutation_p.Y439* NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 439 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TGGTTATCTACGTGTCATGGA 0.542 NA 26 86 0 0 0 0 GRID1 2894 broad.mit.edu 37 10 87487768 87487768 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:87487768C>A uc001kdl.1 - 10 1478 c.1377G>T c.(1375-1377)CAG>CAT p.Q459H GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.Q30H NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 459 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AGCGCTTGGGCTGTCCTAGGA 0.473 NA Multiple Myeloma(13;0.14) 38 54 1.23e-20 1.71e-20 1 0 IFIT5 24138 broad.mit.edu 37 10 91177811 91177811 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:91177811G>A uc010qnh.1 + 2 1086 c.855G>A c.(853-855)CTG>CTA p.L285L IFIT5_uc010qng.1_Silent_p.L237L NM_012420 NP_036552 Q13325 IFIT5_HUMAN interferon-induced protein with 285 binding 0 CTTCTTTCCTGCATCACCAGA 0.423 NA 33 35 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95995801 95995801 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:95995801G>T uc001kjk.2 + 7 2978 c.2344G>T c.(2344-2346)GAG>TAG p.E782* PLCE1_uc010qnx.1_Nonsense_Mutation_p.E782*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.E474* NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 782 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TCGAAGTCTGGAGACAGACGA 0.468 NA 15 16 1.36e-06 1.58e-06 1 0 CYP2C8 1558 broad.mit.edu 37 10 96796938 96796938 + Missense_Mutation SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:96796938T>G uc001kkb.2 - 9 1515 c.1420A>C c.(1420-1422)AAA>CAA p.K474Q CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.K404Q|CYP2C8_uc010qob.1_Missense_Mutation_p.K388Q|CYP2C8_uc010qoc.1_Missense_Mutation_p.K372Q NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 474 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) ACAATCCCTTTGGTAACTGCA 0.428 NA 13 24 0 0 0 0 SLIT1 6585 broad.mit.edu 37 10 98770785 98770785 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:98770785G>C uc001kmw.2 - 31 3558 c.3306C>G c.(3304-3306)GTC>GTG p.V1102V NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1102 EGF-like 5. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGTAGCTGTTGACTTCATCCA 0.592 NA 6 18 0 0 0 0 SEC31B 25956 broad.mit.edu 37 10 102256959 102256959 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:102256959C>A uc001krc.1 - 17 2171 c.2069G>T c.(2068-2070)GGG>GTG p.G690V SEC31B_uc010qpo.1_Missense_Mutation_p.G689V|SEC31B_uc001krd.1_Missense_Mutation_p.G227V|SEC31B_uc001krf.1_Missense_Mutation_p.G227V|SEC31B_uc001kre.1_Missense_Mutation_p.G227V|SEC31B_uc001krg.1_Missense_Mutation_p.G259V NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 690 WD 7. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTCCACACTCCCTGAGCACAC 0.582 NA 15 43 7.93e-07 9.27e-07 1 0 CALHM1 255022 broad.mit.edu 37 10 105218107 105218107 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:105218107G>A uc001kxe.2 - 1 542 c.402C>T c.(400-402)CCC>CCT p.P134P NM_001001412 NP_001001412 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 134 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding ovary(1) 1 GTGCGCTCACGGGCACGGCAG 0.706 NA 10 17 0 0 0 0 NRAP 4892 broad.mit.edu 37 10 115350515 115350515 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:115350515A>G uc001laj.2 - 40 4942 c.4778T>C c.(4777-4779)TTT>TCT p.F1593S NRAP_uc009xyb.2_Missense_Mutation_p.F346S|NRAP_uc001lak.2_Missense_Mutation_p.F1558S|NRAP_uc001lal.3_Missense_Mutation_p.F1593S NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1593 Nebulin 42. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ACTCTTGGCAAAGTCCTTCTT 0.577 NA 26 63 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117061411 117061411 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:117061411G>T uc001lcg.2 + 17 3062 c.2676G>T c.(2674-2676)CTG>CTT p.L892L ATRNL1_uc010qsm.1_Silent_p.L67L|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 892 PSI 4.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CATGCTCTCTGAGGACATCAT 0.378 NA 16 48 0.000308642 0.000335253 1 0 PNLIPRP2 5408 broad.mit.edu 37 10 118386463 118386463 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:118386463T>A uc001lcq.2 + 7 445 c.422T>A c.(421-423)ATT>AAT p.I141N PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 140 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) GTGCAAAACATTCGGGTTGTT 0.557 NA 8 11 0 0 0 0 BTBD16 118663 broad.mit.edu 37 10 124036332 124036332 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:124036332C>A uc001lgc.1 + 3 296 c.45C>A c.(43-45)GTC>GTA p.V15V BTBD16_uc001lgd.1_Silent_p.V14V NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 15 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AACGCCGGGTCACTGGCTCAA 0.478 NA 22 92 1.96e-10 2.47e-10 1 0 DMBT1 1755 broad.mit.edu 37 10 124399936 124399936 + Silent SNP G G C rs112912048 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:124399936G>C uc001lgk.1 + 52 7042 c.6936G>C c.(6934-6936)ACG>ACC p.T2312T DMBT1_uc001lgl.1_Silent_p.T2302T|DMBT1_uc001lgm.1_Silent_p.T1684T|DMBT1_uc009xzz.1_Silent_p.T2311T|DMBT1_uc010qtx.1_Silent_p.T1032T|DMBT1_uc009yab.1_Silent_p.T1015T|DMBT1_uc009yac.1_Silent_p.T606T NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2312 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGACTTCACGTCTTTGACTT 0.458 NA 19 40 0 0 0 0 FAM53B 9679 broad.mit.edu 37 10 126370314 126370314 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:126370314C>A uc001lhv.1 - 4 1291 c.768G>T c.(766-768)CTG>CTT p.L256L FAM53B_uc001lhu.1_Silent_p.L256L|FAM53B_uc001lhw.2_Silent_p.L256L NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 256 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) AGCGTCTCGCCAGCTCTGGTG 0.587 NA 4 13 3.6e-05 4.01e-05 1 0 ADAM8 101 broad.mit.edu 37 10 135086312 135086312 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr10:135086312T>A uc010qva.1 - 7 629 c.578A>T c.(577-579)CAC>CTC p.H193L ADAM8_uc010quz.1_Missense_Mutation_p.H232L|ADAM8_uc009ybi.2_Missense_Mutation_p.H232L|ADAM8_uc010qvb.1_Missense_Mutation_p.H207L|ADAM8_uc009ybj.1_RNA P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 193 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CTTGTCCACGTGATTCACCAC 0.672 NA 14 23 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 608731 608731 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:608731G>T uc001lqe.2 + 14 3406 c.3275G>T c.(3274-3276)CGG>CTG p.R1092L PHRF1_uc010qwc.1_Missense_Mutation_p.R1091L|PHRF1_uc010qwd.1_Missense_Mutation_p.R1090L|PHRF1_uc010qwe.1_Missense_Mutation_p.R1088L|PHRF1_uc009ybz.1_Missense_Mutation_p.R882L|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1092 Arg-rich. RNA polymerase binding|zinc ion binding 0 TCCCGGTCGCGGTCGGGGAGC 0.632 NA 12 19 1.62e-10 2.04e-10 1 0 MUC2 4583 broad.mit.edu 37 11 1078313 1078313 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:1078313C>A uc001lsx.1 + 5 627 c.600C>A c.(598-600)AAC>AAA p.N200K NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 200 VWFD 1. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGAAGATCAACCAGCCCGATG 0.662 NA 27 69 1.79e-09 2.22e-09 1 0 OR52I2 143502 broad.mit.edu 37 11 4608485 4608485 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:4608485T>C uc010qyh.1 + 1 443 c.443T>C c.(442-444)ATG>ACG p.M148T NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 148 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGCTGACCATGGCTTTTGAC 0.493 NA 16 70 0 0 0 0 TRIM68 55128 broad.mit.edu 37 11 4621844 4621844 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:4621844C>G uc001lzf.1 - 7 1358 c.1120G>C c.(1120-1122)GTA>CTA p.V374L TRIM68_uc001lzg.1_Missense_Mutation_p.V151L|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 374 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TGCTTACATACTCCCAGGCCC 0.537 NA 18 29 0 0 0 0 HBG2 3048 broad.mit.edu 37 11 5275578 5275578 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:5275578C>T uc001mai.1 - 2 696 c.259G>A c.(259-261)GCC>ACC p.A87T HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.A87T NM_000559 NP_000550 P69892 HBG2_HUMAN A-gamma globin 87 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCAGCTGGGCAAAGGTGCCC 0.517 NA 25 197 0 0 0 0 OR51B6 390058 broad.mit.edu 37 11 5373081 5373081 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:5373081C>G uc010qzb.1 + 1 344 c.344C>G c.(343-345)GCC>GGC p.A115G HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCTTGCTTGCCATGGCTTAT 0.473 NA 13 63 0 0 0 0 DNHD1 144132 broad.mit.edu 37 11 6588904 6588904 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:6588904C>T uc001mdw.3 + 36 12729 c.12165C>T c.(12163-12165)GCC>GCT p.A4055A DNHD1_uc001mea.3_Silent_p.A324A|DNHD1_uc001meb.2_Silent_p.A323A|DNHD1_uc001mec.2_Silent_p.A323A|DNHD1_uc010rao.1_Silent_p.A313A|DNHD1_uc009yfg.2_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4055 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGGCAGGTGCCCTGGCAGACT 0.617 NA 16 38 0 0 0 0 DNHD1 144132 broad.mit.edu 37 11 6589744 6589744 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:6589744C>G uc001mdw.3 + 38 13163 c.12599C>G c.(12598-12600)ACT>AGT p.T4200S DNHD1_uc001mea.3_Missense_Mutation_p.T469S|DNHD1_uc001meb.2_Missense_Mutation_p.T468S|DNHD1_uc001mec.2_Missense_Mutation_p.T468S|DNHD1_uc010rao.1_Missense_Mutation_p.T458S|DNHD1_uc009yfg.2_5'UTR NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4200 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AATGTAAGCACTGTTCACAGA 0.463 NA 24 48 0 0 0 0 OR6A2 8590 broad.mit.edu 37 11 6816345 6816345 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:6816345T>C uc001mes.1 - 1 795 c.595A>G c.(595-597)ACA>GCA p.T199A NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGCTCTGCTGTGGACATATCA 0.468 NA 37 98 0 0 0 0 FAR1 84188 broad.mit.edu 37 11 13743308 13743308 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:13743308G>T uc001mld.2 + 10 1314 c.1159G>T c.(1159-1161)GCT>TCT p.A387S NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 387 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 TCTTCACAAAGCTATGGTGTT 0.328 NA 24 39 9.58e-11 1.22e-10 1 0 INSC 387755 broad.mit.edu 37 11 15197552 15197552 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:15197552G>C uc001mly.2 + 3 509 c.463G>C c.(463-465)GTG>CTG p.V155L INSC_uc001mlz.2_Missense_Mutation_p.V108L|INSC_uc001mma.2_Missense_Mutation_p.V108L|INSC_uc010rcs.1_Missense_Mutation_p.V108L|INSC_uc001mmb.2_Missense_Mutation_p.V108L|INSC_uc001mmc.2_Missense_Mutation_p.V108L NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 155 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CAGCATGAGCGTGCGTCTGAC 0.627 NA 8 10 0 0 0 0 INSC 387755 broad.mit.edu 37 11 15260566 15260566 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:15260566C>A uc001mly.2 + 11 1526 c.1480C>A c.(1480-1482)CTG>ATG p.L494M INSC_uc001mlz.2_Missense_Mutation_p.L447M|INSC_uc001mma.2_Missense_Mutation_p.L447M|INSC_uc010rcs.1_Missense_Mutation_p.L482M|INSC_uc001mmb.2_Missense_Mutation_p.L447M|INSC_uc001mmc.2_Missense_Mutation_p.L405M NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 494 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TGCAGTGACCCTGGCTCGTCT 0.602 NA 16 26 1.15e-07 1.37e-07 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16834669 16834669 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:16834669C>A uc001mmo.2 - 13 2013 c.1998G>T c.(1996-1998)CTG>CTT p.L666L PLEKHA7_uc010rcu.1_Silent_p.L666L|PLEKHA7_uc010rcv.1_Silent_p.L240L|PLEKHA7_uc001mmn.2_Silent_p.L374L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 666 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 CCTTTAGATCCAGGTACTCCA 0.468 NA 15 34 7.93e-07 9.27e-07 1 0 SERGEF 26297 broad.mit.edu 37 11 18010157 18010157 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:18010157C>G uc001mnm.2 - 8 911 c.831G>C c.(829-831)CTG>CTC p.L277L SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.L277L|SERGEF_uc010rcz.1_Silent_p.L163L|SERGEF_uc001mno.1_Silent_p.L163L NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN deafness locus associated putative guanine 277 RCC1 5. negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 TCTGAGCAACCAGGTGTGTCC 0.507 NA 26 43 0 0 0 0 LDHC 3948 broad.mit.edu 37 11 18472631 18472631 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:18472631G>T uc001mon.3 + 8 1068 c.956G>T c.(955-957)AGT>ATT p.S319I LDHC_uc001mom.3_Missense_Mutation_p.S319I|LDHC_uc009yhp.2_3'UTR|LDHC_uc001moo.3_Missense_Mutation_p.S203I|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_3'UTR NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 319 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) TTCAAGAAGAGTGCAGAAACA 0.388 NA 29 55 1.25e-16 1.7e-16 1 0 ANO5 203859 broad.mit.edu 37 11 22271793 22271793 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:22271793G>A uc001mqi.2 + 10 1206 c.889G>A c.(889-891)GGA>AGA p.G297R ANO5_uc001mqj.2_Missense_Mutation_p.G296R NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 297 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GAATTATTATGGAGAAAAAAT 0.244 NA 10 20 0 0 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924289 45924289 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:45924289G>A uc001nbr.2 + 5 1141 c.971G>A c.(970-972)CGG>CAG p.R324Q NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 324 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) ACGGCAGGGCGGCCGCACCCC 0.711 NA 7 10 0 0 0 0 OR4B1 119765 broad.mit.edu 37 11 48239279 48239279 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:48239279A>T uc010rhs.1 + 1 918 c.918A>T c.(916-918)CCA>CCT p.P306P NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P306T(1) skin(2)|ovary(1)|pancreas(1) 4 AGGAGAATCCAGGGAGGGAGT 0.408 NA 11 31 0 0 0 0 OR5F1 338674 broad.mit.edu 37 11 55761731 55761731 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:55761731G>A uc010riv.1 - 1 371 c.371C>T c.(370-372)GCG>GTG p.A124V NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) ACATATGGCCGCATACCTGTC 0.507 NA 3 32 0 0 0 0 OR5M3 219482 broad.mit.edu 37 11 56237369 56237369 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:56237369C>A uc010rjk.1 - 1 605 c.605G>T c.(604-606)GGC>GTC p.G202V NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GAAGTTAATGCCGGCAAGTAT 0.418 NA 35 80 1.91e-15 2.58e-15 1 0 OR5M8 219484 broad.mit.edu 37 11 56258161 56258161 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:56258161G>T uc001nix.1 - 1 686 c.686C>A c.(685-687)TCT>TAT p.S229Y NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GCCCTCTGTAGAGCGAATCTT 0.413 NA 17 34 4.15e-12 5.4e-12 1 0 OR5AR1 219493 broad.mit.edu 37 11 56431878 56431878 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:56431878C>A uc010rjm.1 + 1 717 c.717C>A c.(715-717)TCC>TCA p.S239S NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 239 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGCTTTCTCCACCTGCGGGT 0.483 NA 24 90 2.22e-12 2.89e-12 1 0 OR9I1 219954 broad.mit.edu 37 11 57886521 57886521 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:57886521A>G uc001nml.1 - 1 396 c.396T>C c.(394-396)TAT>TAC p.Y132Y OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) TGGCCACGGTATAGAGCAGTG 0.557 NA 12 38 0 0 0 0 MS4A4A 51338 broad.mit.edu 37 11 60073587 60073587 + Missense_Mutation SNP G G T rs148827848 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:60073587G>T uc001noz.2 + 6 571 c.561G>T c.(559-561)ATG>ATT p.M187I MS4A4A_uc001npa.2_Missense_Mutation_p.M168I|MS4A4A_uc001npb.2_Missense_Mutation_p.M168I|MS4A4A_uc001npc.2_Missense_Mutation_p.M115I NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 187 Helical; (Potential). integral to membrane receptor activity 0 TGGATGGCATGGTGCTCCTCC 0.458 NA 32 78 1.22e-17 1.68e-17 1 0 FAM86C 55199 broad.mit.edu 37 11 71507140 71507140 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:71507140C>A uc001oqv.3 + 4 365 c.339C>A c.(337-339)AGC>AGA p.S113R FAM86C_uc009ysr.2_Missense_Mutation_p.S106R|FAM86C_uc001oqw.3_Missense_Mutation_p.S79R|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA|uc001oqx.1_Intron NM_018172 NP_060642 Q9NVL1 FA86C_HUMAN hypothetical protein LOC55199 isoform 1 113 0 GGAGCACCAGCGGGCTCCTCA 0.632 NA 46 119 7.88e-25 1.12e-24 1 0 GDPD4 220032 broad.mit.edu 37 11 76940195 76940195 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:76940195C>A uc001oyf.2 - 14 1723 c.1472G>T c.(1471-1473)TGG>TTG p.W491L NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 491 Cytoplasmic (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 atataCTTACCAGTGAAAACA 0.299 NA 8 21 5.18e-06 5.92e-06 1 0 FZD4 8322 broad.mit.edu 37 11 86662821 86662821 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:86662821G>A uc001pce.2 - 2 1283 c.977C>T c.(976-978)ACT>ATT p.T326I PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 326 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAAAAACCAAGTGAGTGTCAG 0.453 NA 13 23 0 0 0 0 GRM5 2915 broad.mit.edu 37 11 88258477 88258477 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:88258477C>A uc001pcq.2 - 8 2926 c.2726G>T c.(2725-2727)AGT>ATT p.S909I GRM5_uc009yvm.2_Intron NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 909 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GTTTGCTTACCTGCTCATTGT 0.507 NA 73 191 2.38e-18 3.28e-18 1 0 FAT3 120114 broad.mit.edu 37 11 92087428 92087428 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:92087428C>T uc001pdj.3 + 1 2167 c.2150C>T c.(2149-2151)TCA>TTA p.S717L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 717 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACTTTTATTCAATTAATAGA 0.398 NA TCGA Ovarian(4;0.039) 49 145 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92564960 92564960 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:92564960T>A uc001pdj.3 + 13 9671 c.9654T>A c.(9652-9654)TCT>TCA p.S3218S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3218 Cadherin 29.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCTGTCCTCTCTCACTACTG 0.577 NA TCGA Ovarian(4;0.039) 11 11 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 99715885 99715885 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:99715885C>A uc001pga.2 + 6 807 c.468C>A c.(466-468)ACC>ACA p.T156T CNTN5_uc009ywv.1_Silent_p.T156T|CNTN5_uc001pfz.2_Silent_p.T156T|CNTN5_uc001pgb.2_Silent_p.T82T NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 156 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TAGATGGCACCTTCATTATAA 0.373 NA 35 69 8.53e-09 1.04e-08 1 0 CNTN5 53942 broad.mit.edu 37 11 99941252 99941252 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:99941252C>G uc001pga.2 + 11 1598 c.1259C>G c.(1258-1260)ACG>AGG p.T420R CNTN5_uc009ywv.1_Missense_Mutation_p.T420R|CNTN5_uc001pfz.2_Missense_Mutation_p.T420R|CNTN5_uc001pgb.2_Missense_Mutation_p.T346R NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 420 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCCAGACCCACGTATCGTTGG 0.478 NA 16 30 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 99944884 99944884 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:99944884C>A uc001pga.2 + 13 1777 c.1438C>A c.(1438-1440)CCC>ACC p.P480T CNTN5_uc009ywv.1_Missense_Mutation_p.P480T|CNTN5_uc001pfz.2_Missense_Mutation_p.P480T|CNTN5_uc001pgb.2_Missense_Mutation_p.P406T NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 480 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGCTTCAGCTCCCACTTTTGC 0.368 NA 10 30 5.51e-06 6.26e-06 1 0 MMP10 4319 broad.mit.edu 37 11 102649421 102649421 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:102649421G>A uc001phg.1 - 4 578 c.556C>T c.(556-558)CCT>TCT p.P186S NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 186 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CCAGGTCCAGGTGGGTAGGCA 0.423 NA 23 42 0 0 0 0 CARD16 114769 broad.mit.edu 37 11 104912149 104912149 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:104912149G>C uc001pip.1 - 3 599 c.572C>G c.(571-573)ACT>AGT p.T191S CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 191 regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 ATGAGTTCCAGTTTGCAACTC 0.393 NA 21 35 0 0 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106888648 106888648 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:106888648G>C uc001pjg.1 - 1 524 c.134C>G c.(133-135)CCG>CGG p.P45R GUCY1A2_uc010rvo.1_Missense_Mutation_p.P45R|GUCY1A2_uc009yxn.1_Missense_Mutation_p.P45R NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 45 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GGGCTCCAGCGGCCCGGGCGG 0.473 NA 2 5 0 0 0 0 DRD2 1813 broad.mit.edu 37 11 113295162 113295162 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:113295162T>A uc001pnz.2 - 1 533 c.212A>T c.(211-213)TAC>TTC p.Y71F DRD2_uc010rwv.1_Missense_Mutation_p.Y71F|DRD2_uc001poa.3_Missense_Mutation_p.Y71F|DRD2_uc001pob.3_Missense_Mutation_p.Y71F|DRD2_uc009yyr.1_Missense_Mutation_p.Y71F NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 71 Helical; Name=2; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GACGATCAGGTAGTTGGTGGT 0.637 NA 16 38 0 0 0 0 RNF214 257160 broad.mit.edu 37 11 117153235 117153235 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:117153235G>A uc001pqt.2 + 12 1873 c.1828G>A c.(1828-1830)GTG>ATG p.V610M RNF214_uc001pqu.2_Missense_Mutation_p.V610M|RNF214_uc010rxf.1_Missense_Mutation_p.V455M NM_207343 NP_997226 Q8ND24 RN214_HUMAN ring finger protein 214 610 zinc ion binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) ACATGAGCGGGTGGCAGCAAG 0.522 NA 14 18 0 0 0 0 CEP164 22897 broad.mit.edu 37 11 117253621 117253621 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:117253621G>C uc001prc.2 + 14 1834 c.1687G>C c.(1687-1689)GTG>CTG p.V563L CEP164_uc001prb.2_Missense_Mutation_p.V566L|CEP164_uc010rxk.1_Missense_Mutation_p.V537L|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 563 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) TGAGGAGAAGGTGGCGGTCAG 0.637 NA 17 20 0 0 0 0 SORL1 6653 broad.mit.edu 37 11 121475024 121475024 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:121475024G>A uc001pxx.2 + 33 4722 c.4642G>A c.(4642-4644)GCC>ACC p.A1548T SORL1_uc010rzp.1_Missense_Mutation_p.A394T|SORL1_uc010rzq.1_Missense_Mutation_p.A163T NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1548 Extracellular (Potential).|LDL-receptor class A 11. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CGATGAAAAGGCCTGCAGTGG 0.547 NA 20 37 0 0 0 0 OR10G4 390264 broad.mit.edu 37 11 123886995 123886995 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:123886995G>T uc010sac.1 + 1 714 c.714G>T c.(712-714)CAG>CAT p.Q238H NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGCCTTTCAGACCTGTGCCT 0.542 NA 22 57 1.5e-11 1.93e-11 1 0 OR8D2 283160 broad.mit.edu 37 11 124189698 124189698 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:124189698G>T uc010sah.1 - 1 396 c.396C>A c.(394-396)TAC>TAA p.Y132* NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TGACAATATTGTAAAGCAGTG 0.443 NA 11 32 2.81e-09 3.47e-09 1 0 FAM118B 79607 broad.mit.edu 37 11 126110725 126110725 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:126110725A>C uc001qdf.2 + 4 308 c.125A>C c.(124-126)GAA>GCA p.E42A FAM118B_uc009zca.2_Missense_Mutation_p.E46A|FAM118B_uc001qdg.2_Missense_Mutation_p.E42A NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 42 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) AAGCCTCGAGAACTTGTGCTA 0.443 NA 64 148 0 0 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709440 128709440 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:128709440T>A uc001qeo.1 - 2 807 c.756A>T c.(754-756)GTA>GTT p.V252V KCNJ1_uc001qep.1_Silent_p.V233V|KCNJ1_uc001qeq.1_Silent_p.V233V|KCNJ1_uc001qer.1_Silent_p.V233V|KCNJ1_uc001qes.1_Silent_p.V233V NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 252 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CAGCGTCAACTACAAAGTTGA 0.428 NA 40 92 0 0 0 0 OPCML 4978 broad.mit.edu 37 11 132307171 132307171 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr11:132307171G>C uc001qgs.2 - 4 659 c.609C>G c.(607-609)AGC>AGG p.S203R OPCML_uc001qgu.2_Missense_Mutation_p.S196R|OPCML_uc010sck.1_Missense_Mutation_p.S203R|OPCML_uc001qgt.2_Missense_Mutation_p.S202R|OPCML_uc010scl.1_Missense_Mutation_p.S162R NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 203 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CGTTCAACGCGCTGCATTCGT 0.542 NA 26 42 0 0 0 0 LEPREL2 10536 broad.mit.edu 37 12 6943184 6943184 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:6943184G>T uc001qra.1 + 11 1463 c.1429G>T c.(1429-1431)GAG>TAG p.E477* LEPREL2_uc001qqz.1_Nonsense_Mutation_p.E284*|LEPREL2_uc001qrb.1_Nonsense_Mutation_p.E284* NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 477 negative regulation of cell proliferation endoplasmic reticulum iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CACCCCAGCCGAGTGTGGGGT 0.587 NA 28 55 1.18e-12 1.54e-12 1 0 CD163 9332 broad.mit.edu 37 12 7640427 7640427 + Silent SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:7640427T>G uc001qsz.3 - 7 1805 c.1677A>C c.(1675-1677)GTA>GTC p.V559V CD163_uc001qta.3_Silent_p.V559V|CD163_uc009zfw.2_Silent_p.V559V NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 559 SRCR 5.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GGCGGGGTGCTACTGGGCAGA 0.502 NA 32 58 0 0 0 0 KLRB1 3820 broad.mit.edu 37 12 9751243 9751243 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:9751243G>T uc010sgt.1 - 4 328 c.266C>A c.(265-267)CCG>CAG p.P89Q NM_002258 NP_002249 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, 89 Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TAAGAGACCCGGTCTCTCTAA 0.373 NA 32 72 4.32e-10 5.41e-10 1 0 GUCY2C 2984 broad.mit.edu 37 12 14766128 14766128 + Missense_Mutation SNP G G A rs140551603 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:14766128G>A uc001rcd.2 - 27 3282 c.3145C>T c.(3145-3147)CGG>TGG p.R1049W NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 1049 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 CTGGCTACCCGTCTGGGTTTT 0.433 NA 74 158 0 0 0 0 ART4 420 broad.mit.edu 37 12 14993877 14993877 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:14993877G>T uc001rcl.1 - 2 721 c.355C>A c.(355-357)CAC>AAC p.H119N ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.H119N NM_021071 NP_066549 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 precursor 119 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity 0 GCCACAGCGTGTGTGGTAGTC 0.438 NA 44 87 4.19e-23 5.91e-23 1 0 PTPRO 5800 broad.mit.edu 37 12 15654948 15654948 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:15654948C>G uc001rcv.1 + 5 1230 c.1056C>G c.(1054-1056)CCC>CCG p.P352P PTPRO_uc001rcw.1_Silent_p.P352P|PTPRO_uc001rcu.1_Silent_p.P352P NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 352 Fibronectin type-III 4.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GGTTACCACCCAAACCACCCA 0.418 NA 21 63 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20876190 20876190 + Splice_Site SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:20876190T>G uc001rej.3 + 10 1541 c.1186_splice c.e10+2 p.G396_splice SLCO1C1_uc010sii.1_Splice_Site_p.G396_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G347_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G230_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G396_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G278_splice NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TTGTGATCGGTATGCTCATCT 0.443 NA 17 40 0 0 0 0 RECQL 5965 broad.mit.edu 37 12 21629893 21629893 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:21629893T>C uc001rex.2 - 9 1249 c.901A>G c.(901-903)ATT>GTT p.I301V RECQL_uc001rey.2_Missense_Mutation_p.I301V NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 301 Helicase C-terminal. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 ATATCCTCAATAAAATCTTCA 0.338 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 13 39 0 0 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27844781 27844781 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:27844781G>C uc001ric.1 + 27 3180 c.2803G>C c.(2803-2805)GGA>CGA p.G935R PPFIBP1_uc010sjr.1_Missense_Mutation_p.G766R|PPFIBP1_uc001rib.1_Missense_Mutation_p.G929R|PPFIBP1_uc001ria.2_Missense_Mutation_p.G904R|PPFIBP1_uc001rid.1_Missense_Mutation_p.G782R|PPFIBP1_uc001rif.1_Missense_Mutation_p.G442R NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 935 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) ACAGGCATCAGGAAGTGCATC 0.403 NA 38 81 0 0 0 0 KIF21A 55605 broad.mit.edu 37 12 39720119 39720119 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:39720119T>C uc001rly.2 - 25 3494 c.3348A>G c.(3346-3348)GTA>GTG p.V1116V KIF21A_uc001rlv.2_Silent_p.V121V|KIF21A_uc001rlw.2_Silent_p.V433V|KIF21A_uc001rlx.2_Silent_p.V1103V|KIF21A_uc001rlz.2_Silent_p.V1080V|KIF21A_uc010skl.1_Silent_p.V1096V NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1116 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TACTATCCTCTACATTTTCTA 0.358 NA 11 35 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40707845 40707845 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:40707845G>C uc001rmg.3 + 32 4729 c.4608G>C c.(4606-4608)TCG>TCC p.S1536S LRRK2_uc009zjw.2_Silent_p.S374S|LRRK2_uc001rmi.2_Silent_p.S369S NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1536 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCATTTTATCGGAGCGTAAAA 0.373 NA 13 37 0 0 0 0 NELL2 4753 broad.mit.edu 37 12 45173741 45173741 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:45173741G>A uc001rog.2 - 4 995 c.400C>T c.(400-402)CAC>TAC p.H134Y NELL2_uc001rof.3_Missense_Mutation_p.H133Y|NELL2_uc001roh.2_Missense_Mutation_p.H134Y|NELL2_uc009zkd.2_Missense_Mutation_p.H133Y|NELL2_uc010skz.1_Missense_Mutation_p.H184Y|NELL2_uc010sla.1_Missense_Mutation_p.H157Y|NELL2_uc001roi.1_Missense_Mutation_p.H134Y|NELL2_uc010slb.1_Missense_Mutation_p.H133Y|NELL2_uc001roj.2_Missense_Mutation_p.H134Y NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 134 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGAGGGCGGTGACTGCCTGAG 0.473 NA 32 79 0 0 0 0 KRT6C 286887 broad.mit.edu 37 12 52862855 52862855 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:52862855G>A uc001sal.3 - 9 1734 c.1686C>T c.(1684-1686)TAC>TAT p.Y562Y NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 562 Tail. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) TTTAGTGCTTGTAGCTCTTCC 0.612 NA 4 50 0 0 0 0 ANKRD52 283373 broad.mit.edu 37 12 56641850 56641850 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:56641850G>A uc001skm.3 - 18 2025 c.1935C>T c.(1933-1935)CTC>CTT p.L645L NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 645 ANK 18. protein binding ovary(2) 2 GCTCCTTGATGAGGGCAGAGG 0.632 NA 11 19 0 0 0 0 GNS 2799 broad.mit.edu 37 12 65130829 65130829 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:65130829T>C uc001ssg.3 - 9 1223 c.1053A>G c.(1051-1053)CCA>CCG p.P351P GNS_uc001ssf.2_Silent_p.P295P|GNS_uc010ssq.1_Silent_p.P383P|GNS_uc010ssr.1_Silent_p.P331P NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 351 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) GAACCAACAGTGGAACTTTGA 0.453 NA 16 51 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81768458 81768458 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:81768458A>T uc001szo.1 - 11 1382 c.1221T>A c.(1219-1221)CCT>CCA p.P407P PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 333 ovary(3)|lung(2)|pancreas(1) 6 CCTCTACTTCAGGCAAGGTTT 0.433 NA 39 61 0 0 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100492321 100492321 + Splice_Site SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:100492321T>C uc001tgq.2 - 5 568 c.339_splice c.e5-1 p.S113_splice UHRF1BP1L_uc001tgr.2_Splice_Site_p.S113_splice NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a ovary(2) 2 CCGTATTCACTGGAAAAACAA 0.259 NA 16 23 0 0 0 0 NT5DC3 51559 broad.mit.edu 37 12 104187036 104187036 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:104187036C>T uc010swe.1 - 9 966 c.925G>A c.(925-927)GGG>AGG p.G309R NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 309 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 TAACTCATCCCTTTGTCCCTA 0.418 NA 63 167 0 0 0 0 SLC41A2 84102 broad.mit.edu 37 12 105321903 105321903 + Missense_Mutation SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:105321903T>G uc001tla.2 - 1 570 c.403A>C c.(403-405)ATA>CTA p.I135L NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 135 Extracellular. integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 TCACTAGATATATCTTCATCT 0.393 NA 34 75 0 0 0 0 NUAK1 9891 broad.mit.edu 37 12 106461453 106461453 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:106461453G>T uc001tlj.1 - 7 2493 c.1113C>A c.(1111-1113)TCC>TCA p.S371S NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 371 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TCTCTTTCTTGGATTTCTTCA 0.547 NA 32 68 1.46e-13 1.93e-13 1 0 WSCD2 9671 broad.mit.edu 37 12 108603974 108603974 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:108603974G>C uc001tms.2 + 4 1318 c.574G>C c.(574-576)GAG>CAG p.E192Q WSCD2_uc001tmt.2_Missense_Mutation_p.E192Q NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 192 WSC 1. integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GAACGTGAGCGAGGCAGAGTG 0.677 NA 8 26 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112673511 112673511 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:112673511G>A uc009zwc.2 - 29 4274 c.4256C>T c.(4255-4257)CCG>CTG p.P1419L NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CTTTGGAGACGGGCGTTGGTC 0.562 NA 11 21 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112684766 112684766 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:112684766G>C uc009zwc.2 - 22 3204 c.3186C>G c.(3184-3186)GTC>GTG p.V1062V NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CTGCGATGGTGACATGCAGCA 0.493 NA 22 24 0 0 0 0 RASAL1 8437 broad.mit.edu 37 12 113543582 113543582 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:113543582G>A uc001tum.1 - 17 2057 c.1764C>T c.(1762-1764)TTC>TTT p.F588F RASAL1_uc010syp.1_Silent_p.F589F|RASAL1_uc001tul.2_Silent_p.F588F|RASAL1_uc001tun.1_Silent_p.F590F|RASAL1_uc010syq.1_Silent_p.F589F|RASAL1_uc001tuo.3_Silent_p.F589F NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 588 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 AGCGCTTCTTGAAGGCAAAGC 0.637 NA 31 54 0 0 0 0 IQCD 115811 broad.mit.edu 37 12 113645397 113645397 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:113645397C>T uc001tuv.1 - 2 997 c.575G>A c.(574-576)GGT>GAT p.G192D IQCD_uc001tuu.2_Missense_Mutation_p.G192D NM_138451 NP_612460 Q96DY2 IQCD_HUMAN IQ motif containing D 192 ovary(1) 1 AAACAGGAAACCACGGAGCTC 0.473 NA 22 66 0 0 0 0 SRRM4 84530 broad.mit.edu 37 12 119563220 119563220 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:119563220C>A uc001txa.1 + 7 842 c.550C>A c.(550-552)CGC>AGC p.R184S NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 184 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 TCACCGCCACCGCCATCACCG 0.478 NA 17 27 6.94e-10 8.67e-10 1 0 COQ5 84274 broad.mit.edu 37 12 120947835 120947835 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:120947835G>C uc001tyn.2 - 4 686 c.666C>G c.(664-666)GTC>GTG p.V222V COQ5_uc001tyo.2_Silent_p.V141V|COQ5_uc010szj.1_Silent_p.V148V NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase 222 ubiquinone biosynthetic process mitochondrion methyltransferase activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAATGTGTGTGACATTCCGGA 0.438 NA 15 37 0 0 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751082 19751082 + Nonsense_Mutation SNP G G T rs148928584 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:19751082G>T uc009zzj.2 - 4 1090 c.1041C>A c.(1039-1041)TGC>TGA p.C347* NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 347 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATCCAGTTGGGCACCAATCTA 0.527 NA 13 19 1.15e-07 1.37e-07 1 0 BRCA2 675 broad.mit.edu 37 13 32907114 32907114 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:32907114G>T uc001uub.1 + 10 1726 c.1499G>T c.(1498-1500)GGT>GTT p.G500V BRCA2_uc001uua.1_Missense_Mutation_p.G377V NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 500 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCATTTCAGGGTATCAAAAAG 0.363 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 25 33 4.27e-12 5.54e-12 1 0 FREM2 341640 broad.mit.edu 37 13 39343823 39343823 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:39343823G>T uc001uwv.2 + 4 5828 c.5519G>T c.(5518-5520)CGG>CTG p.R1840L FREM2_uc001uww.2_5'UTR NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1840 Calx-beta 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGGCGAGTGCGGATCCTGAGT 0.537 NA 19 21 2.39e-15 3.23e-15 1 0 FREM2 341640 broad.mit.edu 37 13 39425200 39425200 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:39425200G>C uc001uwv.2 + 10 7006 c.6697G>C c.(6697-6699)GGT>CGT p.G2233R FREM2_uc001uww.2_Missense_Mutation_p.G319R NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2233 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGCTGCAGTTGGTGAACAAAA 0.438 NA 16 24 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60590252 60590252 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:60590252C>T uc001vht.2 - 6 873 c.654G>A c.(652-654)GGG>GGA p.G218G DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.G207G|DIAPH3_uc010aed.1_Silent_p.G172G|DIAPH3_uc010aee.1_Silent_p.G148G|uc001vhx.2_Intron|uc001vhy.2_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 218 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ATAATCCAAGCCCTTCATGTC 0.313 NA 7 15 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109318423 109318423 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr13:109318423C>A uc001vqt.1 + 2 278 c.152C>A c.(151-153)GCG>GAG p.A51E MYO16_uc010agk.1_Missense_Mutation_p.A73E NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 51 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.A51A(1) ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTGAAGCATGCGAAGAATCCG 0.483 NA 12 12 3.07e-06 3.54e-06 1 0 POTEG 404785 broad.mit.edu 37 14 19553682 19553682 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:19553682C>T uc001vuz.1 + 1 318 c.266C>T c.(265-267)TCT>TTT p.S89F POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 89 ovary(1) 1 CACGACGACTCTGCTATGAAG 0.617 NA 23 531 0 0 0 0 POTEG 404785 broad.mit.edu 37 14 19553819 19553819 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:19553819G>A uc001vuz.1 + 1 455 c.403G>A c.(403-405)GTC>ATC p.V135I POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 135 ovary(1) 1 GAGGTACCACGTCCGTCGAGA 0.582 NA 11 285 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29236541 29236541 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:29236541G>T uc001wqe.2 + 1 255 c.56G>T c.(55-57)AGC>ATC p.S19I NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 19 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCCTCGTTCAGCATCAACAGC 0.393 NA 7 18 1.13e-05 1.28e-05 1 0 PRKD1 5587 broad.mit.edu 37 14 30194823 30194823 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:30194823G>A uc001wqh.2 - 2 503 c.322C>T c.(322-324)CCT>TCT p.P108S NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 108 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCAGAGGTAGGGTCATGGCGA 0.413 NA 16 45 0 0 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724494 38724494 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:38724494G>A uc001wum.1 - 1 1081 c.734C>T c.(733-735)CCC>CTC p.P245L NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 245 Extracellular (Potential).|EGF-like. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCCGGGGCAGGGACACAACAC 0.617 NA 46 120 0 0 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208417 65208417 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:65208417G>C uc001xho.1 + 16 2451 c.2182G>C c.(2182-2184)GAA>CAA p.E728Q PLEKHG3_uc001xhn.1_Missense_Mutation_p.E672Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.E849Q|PLEKHG3_uc010aqh.1_Missense_Mutation_p.E270Q|PLEKHG3_uc001xhq.1_Missense_Mutation_p.E233Q NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 728 YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298). regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TGAAAATGCAGAACACCATGA 0.527 NA 22 84 0 0 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274302 68274302 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:68274302C>A uc001xka.2 - 5 838 c.699G>T c.(697-699)GGG>GGT p.G233G ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.G233G|ZFYVE26_uc010tta.1_Silent_p.G233G NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 233 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCAACTCAACCCCAAGTGGTT 0.637 NA 16 31 2.32e-05 2.59e-05 1 0 CYP46A1 10858 broad.mit.edu 37 14 100172989 100172989 + Nonsense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:100172989T>A uc001ygo.2 + 6 449 c.449T>A c.(448-450)TTG>TAG p.L150* CYP46A1_uc001ygn.1_Nonsense_Mutation_p.L112*|CYP46A1_uc001ygp.2_5'UTR NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 150 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) TCCAGCTCCTTGGTTAGCTTA 0.547 NA 22 44 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411241 105411241 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr14:105411241A>C uc010axc.1 - 7 10667 c.10547T>G c.(10546-10548)CTC>CGC p.L3516R AHNAK2_uc001ypx.2_Missense_Mutation_p.L3416R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3516 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGTGGCCTTGAGGTCCCCCTG 0.667 NA 49 125 0 0 0 0 OR4M2 390538 broad.mit.edu 37 15 22369024 22369024 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:22369024G>T uc010tzu.1 + 1 449 c.449G>T c.(448-450)AGG>ATG p.R150M LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCTCCTGGAGGGGGGGCTTC 0.502 NA 49 313 1.75e-23 2.47e-23 1 0 OR4N4 283694 broad.mit.edu 37 15 22382647 22382647 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:22382647C>T uc001yuc.1 + 7 1156 c.175C>T c.(175-177)CTC>TTC p.L59F LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.L59F NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CACAGCCCCCCTCTATTTATT 0.453 NA 48 141 0 0 0 0 OR4N4 283694 broad.mit.edu 37 15 22382715 22382715 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:22382715G>A uc001yuc.1 + 7 1224 c.243G>A c.(241-243)ATG>ATA p.M81I LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.M81I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCCCAGGATGTTGGTGGACT 0.517 NA 28 121 0 0 0 0 OR4N4 283694 broad.mit.edu 37 15 22383416 22383416 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:22383416G>T uc001yuc.1 + 7 1925 c.944G>T c.(943-945)AGA>ATA p.R315I LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.R315I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 315 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTTATAATAAGAAACTGAGAA 0.254 NA 11 21 6.4e-05 7.08e-05 1 0 MAGEL2 54551 broad.mit.edu 37 15 23890799 23890799 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:23890799G>T uc001ywj.3 - 1 377 c.282C>A c.(280-282)CCC>CCA p.P94P NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CCGGGGGTCCGGGCTGGGCCT 0.652 NA 3 8 0.004672 0.0049279 1 0 GABRA5 2558 broad.mit.edu 37 15 27160007 27160007 + Missense_Mutation SNP C C G rs140643363 by1000genomes TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:27160007C>G uc001zbd.1 + 8 894 c.555C>G c.(553-555)CAC>CAG p.H185Q GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 185 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGATGCGCACGCTTGCCCTC 0.433 NA 17 18 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34640812 34640812 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:34640812A>T uc001zif.2 + 2 814 c.659A>T c.(658-660)TAC>TTC p.Y220F C15orf55_uc010ucc.1_Missense_Mutation_p.Y248F|C15orf55_uc010ucd.1_Missense_Mutation_p.Y238F NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 220 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TGGCAGCGTTACAAAGCCTTG 0.512 NA T BRD3|BRD4 lethal midline carcinoma 33 33 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43821049 43821049 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:43821049T>A uc001zrt.2 + 4 7845 c.7378T>A c.(7378-7380)TCC>ACC p.S2460T NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2460 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCTGCCCCCATCCATAGATGA 0.662 NA 25 16 0 0 0 0 MYO5C 55930 broad.mit.edu 37 15 52532055 52532055 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:52532055C>A uc010bff.2 - 21 2715 c.2578G>T c.(2578-2580)GTG>TTG p.V860L MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 860 IQ 5. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) TGTAGGATCACAGCCTTATGT 0.463 NA 15 23 1.05e-09 1.31e-09 1 0 DENND4A 10260 broad.mit.edu 37 15 66007893 66007893 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:66007893T>A uc002aph.2 - 14 2254 c.1876A>T c.(1876-1878)ATT>TTT p.I626F DENND4A_uc002api.2_Missense_Mutation_p.I626F|DENND4A_uc002apj.3_Missense_Mutation_p.I626F|DENND4A_uc010ujj.1_Missense_Mutation_p.I626F NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 626 dDENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 ATGAAGCGAATAAACATTTGT 0.328 NA 7 21 0 0 0 0 IQCH 64799 broad.mit.edu 37 15 67757467 67757467 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:67757467G>T uc002aqo.1 + 17 2555 c.2508G>T c.(2506-2508)GTG>GTT p.V836V IQCH_uc002aqq.1_Silent_p.V493V|IQCH_uc002aqp.1_Silent_p.V497V|uc002aqr.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 836 skin(3)|ovary(1) 4 Colorectal(3;0.0856) TTAATCAGGTGTGGGCAACCG 0.517 NA 21 43 9.58e-11 1.22e-10 1 0 TBC1D21 161514 broad.mit.edu 37 15 74178505 74178505 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:74178505T>A uc002avz.2 + 7 749 c.666T>A c.(664-666)GCT>GCA p.A222A TBC1D21_uc010ulc.1_Silent_p.A186A NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 222 Rab-GAP TBC. intracellular Rab GTPase activator activity p.A222P(1) ovary(2) 2 CCGTGTTTGCTGAGCACCTAA 0.592 NA 15 35 0 0 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474423 78474423 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:78474423T>C uc002bdh.2 - 8 1015 c.959A>G c.(958-960)GAG>GGG p.E320G ACSBG1_uc010umw.1_Missense_Mutation_p.E316G|ACSBG1_uc010umx.1_Missense_Mutation_p.E78G|ACSBG1_uc010umy.1_Missense_Mutation_p.E213G NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 320 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 GACTACCACCTCCTGCTGGAC 0.627 NA 21 32 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81517813 81517813 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:81517813C>T uc002bgh.3 + 2 449 c.73C>T c.(73-75)CTC>TTC p.L25F IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.L25F|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.L67F|IL16_uc002bgg.2_Missense_Mutation_p.L25F NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 25 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GTCCCTGATGCTCTGTAATGC 0.498 NA 19 50 0 0 0 0 TMC3 342125 broad.mit.edu 37 15 81625263 81625263 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:81625263G>T uc002bgo.1 - 22 2800 c.2800C>A c.(2800-2802)CGC>AGC p.R934S TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 934 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 GGAGGCTGGCGGGGGACCCGG 0.552 NA 13 44 9.05e-12 1.17e-11 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84657464 84657464 + Silent SNP G G T rs141705388 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:84657464G>T uc002bjz.3 + 22 3962 c.3738G>T c.(3736-3738)GGG>GGT p.G1246G ADAMTSL3_uc010bmt.1_Silent_p.G1246G|ADAMTSL3_uc010bmu.1_Silent_p.G1246G NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1246 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) ATGGAACTGGGAAGATACAGA 0.373 NA 8 39 5.18e-06 5.92e-06 1 0 ZNF592 9640 broad.mit.edu 37 15 85326315 85326315 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:85326315A>C uc002bld.2 + 4 745 c.409A>C c.(409-411)ACC>CCC p.T137P ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 137 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCATTACCCACCTTCAACCA 0.478 NA 49 91 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 86790944 86790944 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:86790944G>C uc002blz.1 + 6 511 c.431G>C c.(430-432)AGC>ACC p.S144T NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 144 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TACGTCACCAGCCTGCTCGGG 0.612 NA 12 11 0 0 0 0 PEX11A 8800 broad.mit.edu 37 15 90227164 90227164 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:90227164T>C uc002boi.2 - 3 283 c.188A>G c.(187-189)AAT>AGT p.N63S PEX11A_uc010upy.1_RNA NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 63 Cytoplasmic (Potential). cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) ATGTACCACATTGCCTAGTCT 0.448 NA 23 48 0 0 0 0 NR2F2 7026 broad.mit.edu 37 15 96875646 96875646 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr15:96875646G>C uc010uri.1 + 1 1536 c.312G>C c.(310-312)AAG>AAC p.K104N NR2F2_uc002btp.2_Intron|NR2F2_uc010urj.1_5'Flank|MIR1469_hsa-mir-1469|MI0007074_5'Flank|NR2F2_uc010urk.1_5'Flank NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 104 Nuclear receptor. lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GCTTCTTCAAGCGCAGCGTGC 0.612 NA 8 28 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3781465 3781465 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:3781465C>A uc002cvv.2 - 30 5104 c.4900G>T c.(4900-4902)GTG>TTG p.V1634L CREBBP_uc002cvw.2_Missense_Mutation_p.V1596L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1634 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGGTGGATCACGAAGAAGACC 0.642 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 6 1 0.00198382 0.00211565 1 0 A2BP1 54715 broad.mit.edu 37 16 7629790 7629790 + Silent SNP C C T rs145861898 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:7629790C>T uc002cys.2 + 6 1270 c.282C>T c.(280-282)GAC>GAT p.D94D A2BP1_uc010buf.1_Silent_p.D94D|A2BP1_uc002cyr.1_Silent_p.D93D|A2BP1_uc002cyt.2_Silent_p.D94D|A2BP1_uc010uxz.1_Silent_p.D137D|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.D94D|A2BP1_uc010uyb.1_Silent_p.D94D|A2BP1_uc002cyw.2_Silent_p.D114D|A2BP1_uc002cyy.2_Silent_p.D114D|A2BP1_uc002cyx.2_Silent_p.D114D|A2BP1_uc010uyc.1_Silent_p.D114D NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 94 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) AGACAGATGACGCAGCACCGA 0.517 NA 40 56 0 0 0 0 C16orf68 79091 broad.mit.edu 37 16 8736032 8736032 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:8736032A>G uc002cyz.2 + 8 1151 c.875A>G c.(874-876)TAC>TGC p.Y292C C16orf68_uc002cza.2_Missense_Mutation_p.Y236C NM_024109 NP_077014 Q9BUU2 MET22_HUMAN hypothetical protein LOC79091 292 methyltransferase activity 0 TCTGACTTGTACGATCACACC 0.478 NA 16 59 0 0 0 0 CLN3 1201 broad.mit.edu 37 16 28493805 28493805 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:28493805T>A uc002dpo.2 - 11 1222 c.899A>T c.(898-900)CAG>CTG p.Q300L uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.Q222L|CLN3_uc010vcu.1_Missense_Mutation_p.Q200L|CLN3_uc002dpn.2_Missense_Mutation_p.Q201L|CLN3_uc002dpm.2_Missense_Mutation_p.Q246L|CLN3_uc010vcv.1_Missense_Mutation_p.Q276L|CLN3_uc010byd.2_Missense_Mutation_p.Q300L|CLN3_uc002dpp.2_Missense_Mutation_p.Q300L|CLN3_uc002dpt.1_Missense_Mutation_p.Q200L|CLN3_uc002dpq.1_Missense_Mutation_p.Q252L|CLN3_uc010bye.1_Intron|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.Q173L|CLN3_uc002dpu.1_Missense_Mutation_p.Q198L|CLN3_uc002dpw.1_Missense_Mutation_p.Q147L|CLN3_uc010vcw.1_Missense_Mutation_p.Q246L|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.Q177L|CLN3_uc002dpy.1_Missense_Mutation_p.Q144L NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 300 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 TACAAGTCCCTGGTTAATGAA 0.547 NA 22 38 0 0 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456594 30456594 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:30456594C>A uc010ves.1 - 2 631 c.455G>T c.(454-456)CGC>CTC p.R152L SEPHS2_uc002dyh.1_Missense_Mutation_p.R95L|SEPHS2_uc010vet.1_Missense_Mutation_p.R34L NM_012248 NP_036380 Q99611 SPS2_HUMAN selenophosphate synthetase 2 152 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(2) 2 ACAAGCTATGCGCCCCATCAT 0.547 NA 23 46 5.35e-06 6.11e-06 1 0 ITFG1 81533 broad.mit.edu 37 16 47345160 47345160 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:47345160G>A uc002eet.2 - 10 1123 c.1061C>T c.(1060-1062)ACA>ATA p.T354I ITFG1_uc010vgg.1_Missense_Mutation_p.T99I|ITFG1_uc010vgh.1_Missense_Mutation_p.T241I NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 354 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CCTTCCAGATGTGTTCTTTAG 0.353 NA 15 25 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 57931410 57931410 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:57931410T>A uc002emt.2 - 31 3198 c.3133A>T c.(3133-3135)AAC>TAC p.N1045Y CNGB1_uc010cdh.2_Missense_Mutation_p.N1039Y NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 1045 Cytoplasmic (Potential).|cAMP (By similarity). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GCCACCACGTTGGCCGTGCGC 0.557 NA 14 33 0 0 0 0 CDH8 1006 broad.mit.edu 37 16 61935119 61935119 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:61935119G>T uc002eog.1 - 3 763 c.511C>A c.(511-513)CCC>ACC p.P171T NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 171 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCATGATAGGGTCCATTAAGA 0.398 NA 30 59 4.03e-09 4.96e-09 1 0 CDH11 1009 broad.mit.edu 37 16 64984725 64984725 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:64984725G>A uc002eoi.2 - 12 2273 c.1839C>T c.(1837-1839)GCC>GCT p.A613A CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.A613A|CDH11_uc010vin.1_Silent_p.A487A NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 613 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGCTCAGGCCGGCGTTCAGAA 0.637 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 13 25 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65022110 65022110 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:65022110C>A uc002eoi.2 - 7 1383 c.949G>T c.(949-951)GAA>TAA p.E317* CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Nonsense_Mutation_p.E317*|CDH11_uc010vin.1_Nonsense_Mutation_p.E191* NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 317 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GTTGTGATTTCAAACGATTCC 0.443 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 71 106 9.43e-34 1.37e-33 1 0 SLC12A4 6560 broad.mit.edu 37 16 67981323 67981323 + Nonsense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:67981323C>T uc002euz.2 - 16 2124 c.1983G>A c.(1981-1983)TGG>TGA p.W661* SLC12A4_uc010ceu.2_Nonsense_Mutation_p.W655*|SLC12A4_uc010vkh.1_Nonsense_Mutation_p.W630*|SLC12A4_uc010vki.1_Nonsense_Mutation_p.W661*|SLC12A4_uc010vkj.1_Nonsense_Mutation_p.W663*|SLC12A4_uc002eva.2_Nonsense_Mutation_p.W661*|SLC12A4_uc010cev.1_RNA|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 661 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCCCGTCACCCCACTCCTTCT 0.667 NA 5 10 0 0 0 0 NFAT5 10725 broad.mit.edu 37 16 69727108 69727108 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:69727108C>G uc002exm.1 + 12 4534 c.3326C>G c.(3325-3327)TCT>TGT p.S1109C NFAT5_uc002exi.2_Missense_Mutation_p.S1033C|NFAT5_uc002exj.1_Missense_Mutation_p.S1033C|NFAT5_uc002exk.1_Missense_Mutation_p.S1033C|NFAT5_uc002exl.1_Missense_Mutation_p.S1127C|NFAT5_uc002exn.1_Missense_Mutation_p.S1126C|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1109 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 ACAACCTCCTCTGAACAAATG 0.438 NA 35 122 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72821667 72821667 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:72821667T>A uc002fck.2 - 10 11181 c.10508A>T c.(10507-10509)CAC>CTC p.H3503L uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.H2589L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3503 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) gGTGGGGACGTGAAGCACCAT 0.433 NA 13 29 0 0 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351869 89351869 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr16:89351869C>A uc002fmx.1 - 9 1542 c.1081G>T c.(1081-1083)GTG>TTG p.V361L ANKRD11_uc002fmy.1_Missense_Mutation_p.V361L|ANKRD11_uc002fnc.1_Missense_Mutation_p.V361L|ANKRD11_uc002fnb.1_Missense_Mutation_p.V318L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 361 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTGTCGTCCACCGGAGGAACC 0.468 NA 60 125 1.93e-42 2.82e-42 1 0 PRPF8 10594 broad.mit.edu 37 17 1576801 1576801 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:1576801C>A uc002fte.2 - 23 3621 c.3507G>T c.(3505-3507)CAG>CAT p.Q1169H NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1169 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTTCTCCCACTGAACTGTAG 0.547 NA 29 57 2.44e-19 3.37e-19 1 0 OR3A1 4994 broad.mit.edu 37 17 3195410 3195410 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:3195410A>G uc002fvh.1 - 1 467 c.467T>C c.(466-468)TTC>TCC p.F156S NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 TGCGTTGGTGAAAGCACAAGC 0.572 NA 47 102 0 0 0 0 ALOX12 239 broad.mit.edu 37 17 6913397 6913397 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:6913397T>C uc002gdx.3 + 13 1817 c.1764T>C c.(1762-1764)TGT>TGC p.C588C uc002gdy.1_Intron|ALOX12_uc002gdz.3_Silent_p.C58C|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank NM_000697 NP_000688 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 588 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding central_nervous_system(1) 1 GGCAGGCCTGTCTTCAAATGG 0.562 NA 13 34 0 0 0 0 NLGN2 57555 broad.mit.edu 37 17 7317751 7317751 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7317751A>T uc002ggt.1 + 3 670 c.597A>T c.(595-597)TCA>TCT p.S199S NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 199 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) TCGATGGCTCAGTCCTGGCTG 0.597 NA 27 73 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7577568C>A uc002gim.2 - 7 907 c.713G>T c.(712-714)TGT>TTT p.C238F TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 238 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (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.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(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) GGAACTGTTACACATGTAGTT 0.572 111 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) 20 62 1.26e-06 1.47e-06 1 0 TP53 7157 broad.mit.edu 37 17 7578463 7578463 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7578463C>G uc002gim.2 - 5 661 c.467G>C c.(466-468)CGC>CCC p.R156P TP53_uc002gig.1_Missense_Mutation_p.R156P|TP53_uc002gih.2_Missense_Mutation_p.R156P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R24P|TP53_uc010cng.1_Missense_Mutation_p.R24P|TP53_uc002gii.1_Missense_Mutation_p.R24P|TP53_uc010cnh.1_Missense_Mutation_p.R156P|TP53_uc010cni.1_Missense_Mutation_p.R156P|TP53_uc002gij.2_Missense_Mutation_p.R156P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R63P|TP53_uc002gio.2_Missense_Mutation_p.R24P|TP53_uc010vug.1_Missense_Mutation_p.R117P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 156 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156H(10)|p.R156fs*14(8)|p.0?(7)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)|p.R156fs*20(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) GGCGCGGACGCGGGTGCCGGG 0.612 111 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) 17 43 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7734089 7734089 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:7734089G>T uc002giu.1 + 78 12173 c.12159G>T c.(12157-12159)TGG>TGT p.W4053C DNAH2_uc010cnm.1_Missense_Mutation_p.W991C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4053 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAGATGACTGGGACCGGCGCC 0.547 NA 18 43 3.41e-10 4.28e-10 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8219105 8219105 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:8219105C>A uc002glc.2 + 8 1575 c.1454C>A c.(1453-1455)TCT>TAT p.S485Y ARHGEF15_uc002gld.2_Missense_Mutation_p.S485Y|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S374Y NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 485 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CGTGTGCGCTCTTCCCCCCAC 0.577 NA 17 18 5.35e-07 6.29e-07 1 0 PIK3R6 146850 broad.mit.edu 37 17 8707437 8707437 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:8707437T>C uc002glq.1 - 20 2270 c.2030A>G c.(2029-2031)CAG>CGG p.Q677R PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 677 platelet activation cytosol 0 GCTCTGGATCTGGATATTGTT 0.587 NA 12 20 0 0 0 0 GAS7 8522 broad.mit.edu 37 17 10101583 10101583 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:10101583C>A uc002gmg.1 - 1 286 c.125G>T c.(124-126)GGC>GTC p.G42V NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 42 SH3. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 CTCCTTCTCGCCTTCCCACCA 0.726 NA T MLL AML* 17 31 8.34e-07 9.73e-07 1 0 DNAH9 1770 broad.mit.edu 37 17 11757566 11757566 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:11757566C>A uc002gne.2 + 50 9822 c.9754C>A c.(9754-9756)CCT>ACT p.P3252T DNAH9_uc010coo.2_Missense_Mutation_p.P2546T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3252 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGAGTTCAATCCTGAGTTTGT 0.488 NA 40 106 1.7e-12 2.22e-12 1 0 UBB 7314 broad.mit.edu 37 17 16285753 16285753 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:16285753G>A uc002gpx.2 + 2 670 c.532G>A c.(532-534)GTG>ATG p.V178M UBB_uc010vwe.1_Missense_Mutation_p.V102M NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 178 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) CATCGAAAATGTGAAGGCCAA 0.552 NA 21 47 0 0 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638707 18638707 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:18638707C>A uc002gug.1 + 10 1668 c.981C>A c.(979-981)ATC>ATA p.I327I TRIM16L_uc010vyf.1_Silent_p.I381I|TRIM16L_uc002guh.1_Silent_p.I327I|TRIM16L_uc010cqg.1_Silent_p.I429I|TRIM16L_uc002gui.1_Silent_p.I327I|TRIM16L_uc010vyg.1_Silent_p.I327I|TRIM16L_uc010vyh.1_3'UTR NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN tripartite motif-containing 16-like 327 B30.2/SPRY. cytoplasm 0 AAAACGCCATCCGGATTGTAG 0.527 NA 8 33 3.53e-06 4.06e-06 1 0 ACCN1 40 broad.mit.edu 37 17 32483062 32483062 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:32483062G>T uc002hhu.2 - 1 764 c.490C>A c.(490-492)CTG>ATG p.L164M NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 164 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) ATATCCTTCAGGTCATGGCCC 0.557 NA 23 72 1.18e-14 1.58e-14 1 0 GAS2L2 246176 broad.mit.edu 37 17 34074283 34074283 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:34074283G>A uc002hjv.1 - 5 865 c.837C>T c.(835-837)CAC>CAT p.H279H NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 279 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCCTGGCTTGTGTGCTACCA 0.597 NA 52 101 0 0 0 0 TADA2A 6871 broad.mit.edu 37 17 35818669 35818669 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:35818669G>T uc002hnt.2 + 9 805 c.648G>T c.(646-648)AAG>AAT p.K216N TADA2A_uc002hnu.1_Missense_Mutation_p.K216N|TADA2A_uc002hnv.2_Missense_Mutation_p.K216N|TADA2A_uc010wdd.1_Missense_Mutation_p.K216N|TADA2A_uc002hnw.2_Missense_Mutation_p.K115N|TADA2A_uc010cvb.2_Missense_Mutation_p.K12N NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 216 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 CCAGGTTAAAGGAGAGACAAA 0.229 NA 13 34 2.32e-09 2.87e-09 1 0 ORMDL3 94103 broad.mit.edu 37 17 38079494 38079494 + Missense_Mutation SNP G G A rs139204234 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:38079494G>A uc002htj.1 - 3 337 c.197C>T c.(196-198)ACG>ATG p.T66M ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.T66M NM_139280 NP_644809 Q8N138 ORML3_HUMAN ORM1-like 3 66 Lumenal (Potential). ceramide metabolic process integral to membrane|SPOTS complex protein binding 0 Colorectal(19;0.000442) Lung(15;0.0234) CCCCTTCACCGTGTGCAGGAA 0.582 NA 39 120 0 0 0 0 STAT5B 6777 broad.mit.edu 37 17 40362219 40362219 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:40362219C>A uc002hzh.2 - 15 2045 c.1876G>T c.(1876-1878)GGC>TGC p.G626C NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 626 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) ATGGTGATGCCGCCAATTTCT 0.428 NA 30 51 2.13e-12 2.77e-12 1 0 PLEKHH3 79990 broad.mit.edu 37 17 40822701 40822701 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:40822701A>T uc002iau.2 - 10 1911 c.1444T>A c.(1444-1446)TTG>ATG p.L482M PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.L479M NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 482 FERM. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GAGTCCTCCAACCCAGCTTCC 0.672 NA 17 19 0 0 0 0 ARL4D 379 broad.mit.edu 37 17 41477216 41477216 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:41477216A>T uc002idt.2 + 2 297 c.116A>T c.(115-117)TAC>TTC p.Y39F NM_001661 NP_001652 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 39 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1) 1 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) TCCCTCCTTTACCGCCTCAAG 0.592 NA 20 40 0 0 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475961 42475961 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:42475961C>A uc002igw.1 - 8 3548 c.3484G>T c.(3484-3486)GAA>TAA p.E1162* GPATCH8_uc002igv.1_Nonsense_Mutation_p.E1084*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.E1084* NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1162 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CCAGACTCTTCACACTTCTTA 0.542 NA 50 121 1.33e-27 1.91e-27 1 0 ADAM11 4185 broad.mit.edu 37 17 42852065 42852065 + Splice_Site SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:42852065G>T uc002ihh.2 + 14 1169 c.1169_splice c.e14-1 p.G390_splice ADAM11_uc010wjd.1_Splice_Site_p.G190_splice|ADAM11_uc002ihi.2_5'Flank NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) TCACCCCTCAGGGGACTGCAA 0.652 NA 11 47 6.4e-05 7.08e-05 1 0 MAPT 4137 broad.mit.edu 37 17 44068882 44068882 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:44068882G>C uc002ijr.3 + 9 1757 c.1437G>C c.(1435-1437)CAG>CAC p.Q479H MAPT_uc010dau.2_Missense_Mutation_p.Q479H|MAPT_uc002ijs.3_Missense_Mutation_p.Q162H|MAPT_uc002ijx.3_Missense_Mutation_p.Q133H|MAPT_uc002ijt.3_Missense_Mutation_p.Q104H|MAPT_uc002iju.3_Missense_Mutation_p.Q104H|MAPT_uc002ijv.3_Missense_Mutation_p.Q111H NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 479 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CTCCAGGCCAGAAGGGCCAGG 0.542 NA 37 94 0 0 0 0 DLX4 1748 broad.mit.edu 37 17 48050507 48050507 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:48050507C>A uc002ipv.2 + 2 625 c.354C>A c.(352-354)CGC>CGA p.R118R DLX4_uc002ipw.2_Silent_p.R46R NM_138281 NP_612138 Q92988 DLX4_HUMAN distal-less homeobox 4 isoform a 118 Homeobox. multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AAAAGCTCCGCAAGCCGAGGA 0.677 NA 4 24 1.58e-08 1.93e-08 1 0 OR4D2 124538 broad.mit.edu 37 17 56247544 56247544 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:56247544C>T uc010wnp.1 + 1 528 c.528C>T c.(526-528)AAC>AAT p.N176N NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TTTTGGATAACTTCTACTGTG 0.547 NA 48 99 0 0 0 0 C17orf82 388407 broad.mit.edu 37 17 59489603 59489603 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:59489603C>T uc002izh.1 + 1 492 c.267C>T c.(265-267)CCC>CCT p.P89P NM_203425 NP_982249 Q86X59 CQ082_HUMAN hypothetical protein LOC388407 89 0 GGCACCCTCCCGGGAGCGCCT 0.721 NA OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 7 0 0 0 0 CSH1 1442 broad.mit.edu 37 17 61972895 61972895 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:61972895A>T uc002jcs.1 - 4 510 c.394T>A c.(394-396)TCG>ACG p.S132T CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Missense_Mutation_p.S93T|CSH1_uc002jcq.1_Missense_Mutation_p.S93T|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.S98T|CSH1_uc002jcu.1_Missense_Mutation_p.S132T|CSH1_uc002jcv.1_Intron|CSH1_uc002jcw.2_Missense_Mutation_p.S132T|CSH1_uc002jcy.2_3'UTR NM_001317 NP_001308 P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 isoform 1 132 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding skin(1) 1 TCGCTGTCCGAGGTGTCATAC 0.592 NA Russell-Silver_syndrome 17 31 0 0 0 0 ABCA6 23460 broad.mit.edu 37 17 67136824 67136824 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:67136824G>T uc002jhw.1 - 2 196 c.21C>A c.(19-21)AGC>AGA p.S7R ABCA6_uc002jhy.2_Missense_Mutation_p.S5R NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 7 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) GCTGATACACGCTTTTCTGTT 0.333 NA 23 52 7.88e-14 1.04e-13 1 0 C17orf77 146723 broad.mit.edu 37 17 72588218 72588218 + Silent SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:72588218A>T uc002jla.1 + 3 395 c.33A>T c.(31-33)ACA>ACT p.T11T CD300LD_uc002jkz.2_Intron NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 11 extracellular region 0 TTTCCCTGACATGTCTCCTTC 0.478 NA 48 92 0 0 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879384 3879384 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:3879384C>G uc002kmf.2 - 1 752 c.685G>C c.(685-687)GAC>CAC p.D229H DLGAP1_uc010wyz.1_Missense_Mutation_p.D229H|DLGAP1_uc002kmk.2_Missense_Mutation_p.D229H|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 229 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GCCGAGCGGTCGGGGCACCTG 0.647 NA 152 187 0 0 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879506 3879506 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:3879506C>G uc002kmf.2 - 1 630 c.563G>C c.(562-564)CGC>CCC p.R188P DLGAP1_uc010wyz.1_Missense_Mutation_p.R188P|DLGAP1_uc002kmk.2_Missense_Mutation_p.R188P|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 188 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.R188C(1) ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GGGCTCCGCGCGCCGCTCCTT 0.711 NA 53 258 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31224903 31224903 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:31224903C>T uc010dmg.1 + 3 238 c.183C>T c.(181-183)AAC>AAT p.N61N ASXL3_uc002kxq.2_5'UTR NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TTCACACTAACACTCGAATAG 0.393 NA 3 8 0 0 0 0 SETBP1 26040 broad.mit.edu 37 18 42532199 42532199 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:42532199A>G uc010dni.2 + 4 3190 c.2894A>G c.(2893-2895)CAA>CGA p.Q965R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 965 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACCAAGTTCCAAGTGTTCAGA 0.473 NA Schinzel-Giedion_syndrome 52 58 0 0 0 0 SLC14A1 6563 broad.mit.edu 37 18 43316445 43316445 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:43316445T>C uc010xcn.1 + 7 814 c.495T>C c.(493-495)AAT>AAC p.N165N SLC14A1_uc010dnk.2_Silent_p.N221N|SLC14A1_uc002lbf.3_Silent_p.N165N|SLC14A1_uc002lbg.3_Intron|SLC14A1_uc010xco.1_Silent_p.N60N|SLC14A1_uc002lbh.3_Silent_p.N57N|SLC14A1_uc002lbi.3_Silent_p.N33N|SLC14A1_uc002lbj.3_Silent_p.N221N|SLC14A1_uc002lbk.3_Silent_p.N165N NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 165 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 GTGCATTGAATTCCATGCTCA 0.458 NA 34 114 0 0 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555173 44555173 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:44555173G>A uc010xdb.1 - 1 1277 c.1041C>T c.(1039-1041)AAC>AAT p.N347N KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 347 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 CGTCCGGATTGTTCCTAGGCA 0.647 NA 29 607 0 0 0 0 MBD1 4152 broad.mit.edu 37 18 47806252 47806252 + Splice_Site SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:47806252C>T uc010dow.1 - 2 547 c.110_splice c.e2+1 p.S37_splice MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Splice_Site_p.S37_splice|MBD1_uc010xdi.1_Splice_Site_p.S63_splice|MBD1_uc002leh.3_Splice_Site_p.S37_splice|MBD1_uc002len.2_Splice_Site_p.S37_splice|MBD1_uc002lei.3_Splice_Site_p.S37_splice|MBD1_uc002lej.3_Splice_Site_p.S37_splice|MBD1_uc002lek.3_Splice_Site_p.S37_splice|MBD1_uc002lel.3_Splice_Site_p.S37_splice|MBD1_uc002lem.3_Splice_Site_p.S37_splice|MBD1_uc010xdj.1_Splice_Site_p.S37_splice|MBD1_uc010xdk.1_Splice_Site_p.S37_splice|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Splice_Site_p.S37_splice NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCACCCAGTACCTCTGGTAAT 0.537 NA 16 50 0 0 0 0 MRO 83876 broad.mit.edu 37 18 48331580 48331580 + Missense_Mutation SNP C C T rs143359256 by1000genomes TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:48331580C>T uc002lew.3 - 5 667 c.373G>A c.(373-375)GGT>AGT p.G125S MRO_uc010xdn.1_Missense_Mutation_p.G125S|MRO_uc010dpa.2_Missense_Mutation_p.G139S|MRO_uc010dpb.2_Missense_Mutation_p.G139S|MRO_uc010dpc.2_Missense_Mutation_p.G125S|MRO_uc002lex.3_Missense_Mutation_p.G125S NM_031939 NP_114145 Q9BYG7 MSTRO_HUMAN maestro isoform a 125 nucleolus binding 0 Colorectal(6;0.0596) Colorectal(21;0.082) GAACCCAAACCTTTCCCCTGG 0.433 NA 50 45 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50450211 50450211 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:50450211G>A uc002lfe.1 + 4 1419 c.832G>A c.(832-834)GAA>AAA p.E278K DCC_uc010xdr.1_Missense_Mutation_p.E126K NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 278 Extracellular (Potential).|Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ACGAGGCGAGGAAGTCATCCA 0.368 NA 41 48 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64239255 64239255 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:64239255T>C uc002lkc.1 - 2 325 c.187A>G c.(187-189)ATC>GTC p.I63V CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.I63V|CDH19_uc002lkd.2_Missense_Mutation_p.I63V NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 63 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) ACCTGGCCGATGTGATGACTA 0.378 NA 17 38 0 0 0 0 CNDP1 84735 broad.mit.edu 37 18 72247448 72247448 + Missense_Mutation SNP C C G rs144587048 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:72247448C>G uc002llq.2 + 10 1461 c.1250C>G c.(1249-1251)CCG>CGG p.P417R CNDP1_uc002lls.2_Missense_Mutation_p.P220R NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 417 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GGACTACACCCGTGGATTGCA 0.443 NA 12 36 0 0 0 0 NFATC1 4772 broad.mit.edu 37 18 77170505 77170505 + Missense_Mutation SNP C C T rs143045693 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr18:77170505C>T uc010xfg.1 + 2 683 c.230C>T c.(229-231)CCG>CTG p.P77L NFATC1_uc002lnc.1_Missense_Mutation_p.P77L|NFATC1_uc010xff.1_Missense_Mutation_p.P77L|NFATC1_uc002lnd.2_Missense_Mutation_p.P77L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.P77L|NFATC1_uc010xfi.1_Missense_Mutation_p.P64L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.P64L|NFATC1_uc002lng.2_Missense_Mutation_p.P64L|NFATC1_uc010xfk.1_Missense_Mutation_p.P64L NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 77 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) ACCTCCACACCGGGCATCATC 0.692 NA 32 37 0 0 0 0 ELANE 1991 broad.mit.edu 37 19 852883 852883 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:852883G>A uc002lqb.2 + 2 113 c.75G>A c.(73-75)GCG>GCA p.A25A NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 25 A -> V (in SCN1). cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CAGGCACCGCGCTGGCCTCGG 0.741 NA Kostmann_syndrome 11 8 0 0 0 0 APC2 10297 broad.mit.edu 37 19 1466497 1466497 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:1466497C>T uc002lsr.1 + 15 3405 c.3197C>T c.(3196-3198)TCG>TTG p.S1066L APC2_uc002lss.1_Missense_Mutation_p.S648L|APC2_uc002lst.1_Missense_Mutation_p.S1066L|APC2_uc002lsu.1_Missense_Mutation_p.S1065L|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1066 Interaction with CTNNB1.|1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCACTCTCGCTGTCCCGA 0.682 NA 5 10 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9070007 9070007 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:9070007C>G uc002mkp.2 - 3 17643 c.17439G>C c.(17437-17439)GAG>GAC p.E5813D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5815 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCTGGAGACCTCAGTAGTAG 0.493 NA 21 75 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9075389 9075389 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:9075389G>A uc002mkp.2 - 3 12261 c.12057C>T c.(12055-12057)GAC>GAT p.D4019D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4021 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGGGCTGACGTCCCTCAGTT 0.473 NA 27 56 0 0 0 0 DNM2 1785 broad.mit.edu 37 19 10893766 10893766 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:10893766C>T uc002mps.1 + 6 983 c.819C>T c.(817-819)GGC>GGT p.G273G DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.G273G|DNM2_uc002mpv.1_Silent_p.G273G|DNM2_uc002mpu.1_Silent_p.G273G|DNM2_uc010dxl.1_Silent_p.G273G|DNM2_uc002mpw.2_Silent_p.G6G NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 273 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ACCGCATGGGCACGCCACATC 0.577 NA 15 47 0 0 0 0 ZNF443 10224 broad.mit.edu 37 19 12542408 12542408 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:12542408C>G uc002mtu.2 - 4 776 c.578G>C c.(577-579)GGA>GCA p.G193A NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 193 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 AGGTCCATCTCCACGCTGCAC 0.418 NA 36 93 0 0 0 0 CCDC130 81576 broad.mit.edu 37 19 13869957 13869957 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:13869957G>T uc002mxb.1 + 9 947 c.444G>T c.(442-444)CGG>CGT p.R148R CCDC130_uc010xnf.1_3'UTR|CCDC130_uc002mxc.1_Silent_p.R148R|CCDC130_uc002mxd.1_Silent_p.R3R|CCDC130_uc010dzf.1_Silent_p.R42R NM_030818 NP_110445 P13994 CC130_HUMAN coiled-coil domain containing 130 148 response to virus protein binding 0 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) CCATGTTCCGGCTGGAGCATG 0.652 NA 4 10 0.00909568 0.00946794 1 0 RFX1 5989 broad.mit.edu 37 19 14104570 14104570 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:14104570G>A uc002mxv.2 - 2 358 c.86C>T c.(85-87)CCG>CTG p.P29L RFX1_uc010dzi.2_Missense_Mutation_p.P29L NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 29 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) tggcggtggcggctggggctg 0.129 NA 5 15 0 0 0 0 FCHO1 23149 broad.mit.edu 37 19 17887482 17887482 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:17887482C>G uc010ebb.2 + 17 1435 c.1246C>G c.(1246-1248)CCC>GCC p.P416A FCHO1_uc002nhg.3_Missense_Mutation_p.P416A|FCHO1_uc002nhh.2_Missense_Mutation_p.P416A|FCHO1_uc010xpw.1_Missense_Mutation_p.P366A|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 416 breast(1) 1 TCGGTCTGCCCCCAGAACCAG 0.597 NA 13 41 0 0 0 0 ZNF90 7643 broad.mit.edu 37 19 20229413 20229413 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:20229413C>A uc002nor.2 + 4 1189 c.1050C>A c.(1048-1050)TTC>TTA p.F350L ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN zinc finger protein 90 350 C2H2-type 7. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GCAAAGCCTTCAGGCGCTCCT 0.423 NA 14 23 6.82e-15 9.15e-15 1 0 ZNF430 80264 broad.mit.edu 37 19 21205625 21205625 + Nonsense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:21205625A>T uc002npj.2 + 2 144 c.34A>T c.(34-36)AAG>TAG p.K12* ZNF430_uc002npk.2_Nonsense_Mutation_p.K12* NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 GTATCCTCTCAAGGAAGCAAG 0.448 NA 33 74 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22154585 22154585 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:22154585G>T uc002nqp.2 - 6 3016 c.2867C>A c.(2866-2868)CCC>CAC p.P956H ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTTGTAGGGTTCCTCTCC 0.428 NA 36 86 1.03e-13 1.37e-13 1 0 ZNF676 163223 broad.mit.edu 37 19 22363718 22363718 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:22363718G>A uc002nqs.1 - 3 1119 c.801C>T c.(799-801)ACC>ACT p.T267T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 267 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTGTATTAAGGGTTGAGACGC 0.388 NA 23 60 0 0 0 0 LGI4 163175 broad.mit.edu 37 19 35617862 35617862 + Nonsense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:35617862G>A uc002nxx.2 - 7 1282 c.688C>T c.(688-690)CAA>TAA p.Q230* LGI4_uc002nxy.1_Nonsense_Mutation_p.Q58*|LGI4_uc002nxz.1_Nonsense_Mutation_p.Q58* NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 230 EAR 1. extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GGCTCCCCTTGGTAGGAGAAG 0.652 NA 15 43 0 0 0 0 ZNF568 374900 broad.mit.edu 37 19 37488355 37488355 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:37488355G>T uc010efg.2 + 10 2277 c.1720G>T c.(1720-1722)GAG>TAG p.E574* ZNF568_uc010xtn.1_Nonsense_Mutation_p.E512*|uc010efi.2_Nonsense_Mutation_p.E392*|uc010efj.2_Nonsense_Mutation_p.E392* Q3ZCX4 ZN568_HUMAN SubName: Full=cDNA FLJ57578, moderately similar to Mus musculus zinc finger protein 568 (Zfp568), mRNA; 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCACACTGGGGAGAGACCCCA 0.448 NA 5 13 0.000602214 0.000648391 1 0 RYR1 6261 broad.mit.edu 37 19 38948913 38948913 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:38948913T>A uc002oit.2 + 18 2278 c.2148T>A c.(2146-2148)GAT>GAA p.D716E RYR1_uc002oiu.2_Missense_Mutation_p.D716E NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 716 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACGGCTTTGATGGACTGCATC 0.632 NA 23 79 0 0 0 0 DYRK1B 9149 broad.mit.edu 37 19 40317964 40317964 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:40317964C>A uc002omj.2 - 8 1336 c.1056G>T c.(1054-1056)GGG>GGT p.G352G DYRK1B_uc002omi.2_Silent_p.G352G|DYRK1B_uc002omk.2_Silent_p.G352G NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 352 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TCCAGCCACCCCCAGGCAGCC 0.647 NA 14 23 6.72e-11 8.57e-11 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41809959 41809959 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:41809959A>T uc002oqb.3 + 13 2344 c.2055A>T c.(2053-2055)AGA>AGT p.R685S CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R585S|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R585S|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R685S|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R571S|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R585S|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R585S|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R585S|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R585S|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R541S|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.R209S NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 685 Necessary for interaction with TP53.|Asn-rich. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 CCAACAACAGAGGCAGCTACA 0.388 NA 37 56 0 0 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45731307 45731307 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:45731307G>A uc002pay.1 - 4 259 c.218C>T c.(217-219)GCA>GTA p.A73V NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 73 ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GATGCGGGGTGCTCGCTCTGT 0.637 NA 8 26 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47422368 47422368 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:47422368G>T uc010ekv.2 + 1 436 c.436G>T c.(436-438)GAG>TAG p.E146* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 146 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GCAGGACTTTGAGCAGAAACA 0.483 NA 26 45 7.93e-12 1.02e-11 1 0 CCDC155 147872 broad.mit.edu 37 19 49902726 49902726 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:49902726C>G uc002pnm.1 + 9 934 c.760C>G c.(760-762)CAG>GAG p.Q254E CCDC155_uc002pnl.1_Missense_Mutation_p.Q254E|CCDC155_uc010emx.1_Missense_Mutation_p.Q227E NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 254 Potential. integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 AAAGGAGCAGCAGCATCTGGT 0.572 NA 7 9 0 0 0 0 HAS1 3036 broad.mit.edu 37 19 52222623 52222623 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:52222623C>A uc002pxo.1 - 2 573 c.538G>T c.(538-540)GCC>TCC p.A180S HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.A145S|HAS1_uc002pxn.1_Missense_Mutation_p.A187S|HAS1_uc002pxp.1_Missense_Mutation_p.A179S NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 180 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TAGGCTccggcgcccaccgcg 0.587 NA 3 8 0.004672 0.0049279 1 0 FPR2 2358 broad.mit.edu 37 19 52272136 52272136 + Silent SNP G G C rs147854636 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:52272136G>C uc002pxr.2 + 2 270 c.225G>C c.(223-225)ACG>ACC p.T75T FPR2_uc002pxs.3_Silent_p.T75T|FPR2_uc010epf.2_Silent_p.T75T NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 75 Helical; Name=2; (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 TTTCTTTCACGGCCACATTAC 0.512 NA 28 88 0 0 0 0 PTPRH 5794 broad.mit.edu 37 19 55707974 55707974 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:55707974G>A uc002qjq.2 - 10 2246 c.2173C>T c.(2173-2175)CGG>TGG p.R725W PTPRH_uc010esv.2_Missense_Mutation_p.R547W|PTPRH_uc002qjs.2_Missense_Mutation_p.R732W NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 725 Extracellular (Potential).|Fibronectin type-III 8. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GGGTAGGACCGAGCCGGCCCG 0.632 NA 29 44 0 0 0 0 BRSK1 84446 broad.mit.edu 37 19 55817783 55817783 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:55817783G>A uc002qkg.2 + 17 2331 c.2054G>A c.(2053-2055)GGT>GAT p.G685D BRSK1_uc002qkf.2_Missense_Mutation_p.G701D|BRSK1_uc002qkh.2_Missense_Mutation_p.G380D NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 685 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AGCGGAGGTGGTGGCATCTAC 0.642 NA 9 33 0 0 0 0 ZNF256 10172 broad.mit.edu 37 19 58453833 58453833 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:58453833G>T uc002qqu.2 - 3 578 c.343C>A c.(343-345)CAG>AAG p.Q115K ZNF256_uc010euj.2_5'UTR NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 115 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) TACAGTTTCTGACCATGGTGT 0.473 NA 42 103 3.67e-30 5.32e-30 1 0 ZNF324 25799 broad.mit.edu 37 19 58983146 58983146 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr19:58983146G>C uc002qsw.1 + 4 1381 c.1287G>C c.(1285-1287)CAG>CAC p.Q429H ZNF324_uc002qsx.1_Missense_Mutation_p.Q206H NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 429 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CCTGCCCACAGTGCGGCCGCG 0.677 NA 14 31 0 0 0 0 TPO 7173 broad.mit.edu 37 2 1457542 1457542 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:1457542C>A uc002qww.2 + 6 650 c.559C>A c.(559-561)CAG>AAG p.Q187K TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.Q187K|TPO_uc002qwr.2_Missense_Mutation_p.Q187K|TPO_uc002qwx.2_Missense_Mutation_p.Q187K|TPO_uc010yio.1_Missense_Mutation_p.Q187K|TPO_uc010yip.1_Missense_Mutation_p.Q187K NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 187 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGCTTCAGTCAGCCCCGAGG 0.602 NA 29 60 7.42e-09 9.08e-09 1 0 PXDN 7837 broad.mit.edu 37 2 1684055 1684055 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:1684055C>G uc002qxa.2 - 7 704 c.640G>C c.(640-642)GGG>CGG p.G214R PXDN_uc002qxb.1_Missense_Mutation_p.G214R|PXDN_uc002qxc.1_Missense_Mutation_p.G31R NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 214 LRRCT. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGCGCGTTCCCCGACTCCGCG 0.582 NA 11 24 0 0 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10923308 10923308 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:10923308G>A uc002ras.2 + 14 1312 c.1203G>A c.(1201-1203)GTG>GTA p.V401V ATP6V1C2_uc002rat.2_Silent_p.V355V NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 401 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AGGCATCTGTGGAGATCCCGG 0.443 NA 20 45 0 0 0 0 APOB 338 broad.mit.edu 37 2 21231404 21231404 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:21231404T>A uc002red.2 - 26 8464 c.8336A>T c.(8335-8337)AAT>ATT p.N2779I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2779 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTGGTTCCATTCCCTATGTC 0.398 NA 40 65 0 0 0 0 XDH 7498 broad.mit.edu 37 2 31598392 31598392 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:31598392C>A uc002rnv.1 - 15 1535 c.1456G>T c.(1456-1458)GTG>TTG p.V486L NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 486 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCTGCACACACGTCCTGCAGC 0.637 NA 18 26 1.68e-08 2.04e-08 1 0 THUMPD2 80745 broad.mit.edu 37 2 39971589 39971589 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:39971589T>C uc002rru.2 - 9 1145 c.1108A>G c.(1108-1110)ATT>GTT p.I370V THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.I261V NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 370 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) GAAATAATAATATCAACACTT 0.279 NA 16 30 0 0 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848069 48848069 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:48848069A>G uc010yol.1 + 3 2260 c.2213A>G c.(2212-2214)CAA>CGA p.Q738R STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.Q738R|GTF2A1L_uc002rws.1_Missense_Mutation_p.Q34R|GTF2A1L_uc010yom.1_Intron|GTF2A1L_uc002rwt.2_Missense_Mutation_p.Q34R NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 738 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATAGAGGAACAAGTTTTAAAA 0.333 NA 18 31 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 51254950 51254950 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:51254950G>A uc010fbq.2 - 2 1939 c.462C>T c.(460-462)TTC>TTT p.F154F NRXN1_uc002rxe.3_Silent_p.F154F|NRXN1_uc002rxd.1_Silent_p.F154F NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCCCCCGACGAAAAGGCCGC 0.662 NA 5 21 0 0 0 0 CNRIP1 25927 broad.mit.edu 37 2 68521024 68521024 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:68521024C>A uc002sek.3 - 3 1116 c.465G>T c.(463-465)CTG>CTT p.L155L CNRIP1_uc002sej.3_Intron|CNRIP1_uc002sem.1_RNA|CNRIP1_uc002sel.3_RNA NM_015463 NP_056278 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 155 protein binding liver(1) 1 TCACCCACATCAGACTGCGTG 0.473 NA 25 40 2.8e-10 3.52e-10 1 0 DYSF 8291 broad.mit.edu 37 2 71839829 71839829 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:71839829G>T uc002sie.2 + 39 4602 c.4226G>T c.(4225-4227)CGC>CTC p.R1409L DYSF_uc010feg.2_Missense_Mutation_p.R1440L|DYSF_uc010feh.2_Missense_Mutation_p.R1395L|DYSF_uc002sig.3_Missense_Mutation_p.R1395L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1409L|DYSF_uc010fef.2_Missense_Mutation_p.R1426L|DYSF_uc010fei.2_Missense_Mutation_p.R1426L|DYSF_uc010fek.2_Missense_Mutation_p.R1427L|DYSF_uc010fej.2_Missense_Mutation_p.R1396L|DYSF_uc010fel.2_Missense_Mutation_p.R1396L|DYSF_uc010feo.2_Missense_Mutation_p.R1441L|DYSF_uc010fem.2_Missense_Mutation_p.R1410L|DYSF_uc010fen.2_Missense_Mutation_p.R1427L|DYSF_uc002sif.2_Missense_Mutation_p.R1410L|DYSF_uc010yqy.1_Missense_Mutation_p.R290L|DYSF_uc010yqz.1_Missense_Mutation_p.R149L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1409 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 ATCGATAACCGCCAGTTTGGC 0.637 NA 23 52 2.42e-17 3.31e-17 1 0 REG3G 130120 broad.mit.edu 37 2 79254295 79254295 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:79254295C>A uc002snw.2 + 4 416 c.331C>A c.(331-333)CAG>AAG p.Q111K REG3G_uc002snx.2_Missense_Mutation_p.Q111K|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 111 C-type lectin. acute-phase response extracellular region sugar binding 0 TGACCCCACACAGGTGCGAGT 0.557 NA 33 67 3.76e-14 5e-14 1 0 LRRTM1 347730 broad.mit.edu 37 2 80529964 80529964 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:80529964C>T uc002sok.1 - 2 1251 c.981G>A c.(979-981)TCG>TCA p.S327S CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 327 LRRCT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TGTTGAGCCACGAGGCTAGGG 0.637 NA HNSCC(69;0.2) 7 17 0 0 0 0 SMYD1 150572 broad.mit.edu 37 2 88405918 88405918 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:88405918G>C uc002ssr.2 + 8 1058 c.1056G>C c.(1054-1056)CGG>CGC p.R352R SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.R48R NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 ACATGCTGCGGATGCTGAGCA 0.547 NA 22 41 0 0 0 0 CNGA3 1261 broad.mit.edu 37 2 98999860 98999860 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:98999860C>T uc002syt.2 + 5 822 c.405C>T c.(403-405)CCC>CCT p.P135P CNGA3_uc002syu.2_Intron|CNGA3_uc010fij.2_Silent_p.P139P NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 135 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GCGCCTGGCCCCTGGCCAAAT 0.597 NA 9 39 0 0 0 0 C2orf55 343990 broad.mit.edu 37 2 99439551 99439551 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:99439551G>T uc002szf.1 - 7 1479 c.1185C>A c.(1183-1185)CCC>CCA p.P395P NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 395 Pro-rich. 0 CGACGTCTTCGGGAGCACAGA 0.731 NA 8 11 0.00448238 0.00475768 1 0 IL1R1 3554 broad.mit.edu 37 2 102788275 102788275 + Missense_Mutation SNP T T A rs35308674 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:102788275T>A uc002tbq.2 + 8 1054 c.736T>A c.(736-738)TTG>ATG p.L246M IL1R1_uc010fix.2_Missense_Mutation_p.L246M|IL1R1_uc002tbp.2_Missense_Mutation_p.L246M|IL1R1_uc002tbr.2_Missense_Mutation_p.L246M NM_000877 NP_000868 P14778 IL1R1_HUMAN interleukin 1 receptor, type I precursor 246 Ig-like C2-type 3.|Extracellular (Potential). innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding skin(1) 1 Anakinra(DB00026) CCAGATACAATTGATCTGTAA 0.294 NA 10 33 0 0 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626897 108626897 + Silent SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:108626897T>A uc002tdv.2 + 9 1599 c.1323T>A c.(1321-1323)TCT>TCA p.S441S SLC5A7_uc010ywm.1_Silent_p.S194S|SLC5A7_uc010fjj.2_Silent_p.S441S|SLC5A7_uc010ywn.1_Silent_p.S328S NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 441 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GTTATGTTTCTGGCCTCTTCC 0.453 NA 16 49 0 0 0 0 PSD4 23550 broad.mit.edu 37 2 113955162 113955163 + Missense_Mutation DNP GG GG TT TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:113955162_113955163GG>TT uc002tjc.2 + 13 2591_2592 c.2408_2409GG>TT c.(2407-2409)TGG>TTT p.W803F PSD4_uc002tjd.2_Missense_Mutation_p.W424F|PSD4_uc002tje.2_Missense_Mutation_p.W774F|PSD4_uc002tjf.2_Missense_Mutation_p.W424F|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Missense_Mutation_p.W34F|PSD4_uc002tjh.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 803 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 AAGCGTGGCTGGAAGATGTTCC 0.55 NA 6 25 0 0 0 0 THSD7B 80731 broad.mit.edu 37 2 138320906 138320906 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:138320906C>A uc002tva.1 + 15 3167 c.3167C>A c.(3166-3168)ACA>AAA p.T1056K THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GGAGGAGGAACACAATCTAGG 0.413 NA 14 30 2.32e-05 2.59e-05 1 0 LRP1B 53353 broad.mit.edu 37 2 141092122 141092122 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:141092122C>A uc002tvj.1 - 79 13095 c.12123G>T c.(12121-12123)ATG>ATT p.M4041I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4041 Extracellular (Potential).|LDL-receptor class B 35. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTCCAGTACATCATCCTGA 0.383 NA TSP Lung(27;0.18) 18 41 1.68e-08 2.04e-08 1 0 LRP1B 53353 broad.mit.edu 37 2 141108566 141108566 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:141108566T>A uc002tvj.1 - 77 12664 c.11692A>T c.(11692-11694)ATC>TTC p.I3898F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3898 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAACCCAGGATATCAGTGTCA 0.284 NA TSP Lung(27;0.18) 35 91 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141208166 141208166 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:141208166C>G uc002tvj.1 - 63 11000 c.10028G>C c.(10027-10029)GGT>GCT p.G3343A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3343 Extracellular (Potential).|LDL-receptor class A 21. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGATCCATCACCACAGTCATC 0.348 NA TSP Lung(27;0.18) 19 65 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152563504 152563504 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:152563504T>C uc010fnx.2 - 13 1234 c.1043A>G c.(1042-1044)TAC>TGC p.Y348C NEB_uc010fny.1_Translation_Start_Site NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 348 Nebulin 8. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GTCTTCTTTGTATTTTACCTG 0.373 NA 5 11 0 0 0 0 FIGN 55137 broad.mit.edu 37 2 164467533 164467533 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:164467533G>T uc002uck.1 - 3 1120 c.809C>A c.(808-810)CCG>CAG p.P270Q NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 270 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CGCTGAAGGCGGAGGCGGTGC 0.592 NA 19 35 7.45e-12 9.65e-12 1 0 SCN1A 6323 broad.mit.edu 37 2 166850763 166850763 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:166850763A>G uc010zcz.1 - 25 4730 c.4712T>C c.(4711-4713)GTG>GCG p.V1571A NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1582 Helical; Name=S2 of repeat IV; (By similarity).|IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGTAAATAGCACAATGAACAC 0.378 NA 12 33 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167056252 167056253 + Missense_Mutation DNP GC GC TG TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:167056252_167056253GC>TG uc010fpl.2 - 27 5204_5205 c.4863_4864GC>CA c.(4861-4866)ACGCTG>ACCATG p.L1622M uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1633 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GCAAAGAGCAGCGTGCGGATCC 0.5 NA 54 109 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168099600 168099600 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:168099600G>T uc002udx.2 + 8 1716 c.1698G>T c.(1696-1698)TGG>TGT p.W566C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.W391C|XIRP2_uc010fpq.2_Missense_Mutation_p.W344C|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 391 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACTTGGAATGGGATGAAATTC 0.403 NA 13 25 1.5e-05 1.69e-05 1 0 AGPS 8540 broad.mit.edu 37 2 178301756 178301756 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:178301756G>T uc002ull.2 + 5 658 c.611G>T c.(610-612)CGA>CTA p.R204L AGPS_uc010zfb.1_Missense_Mutation_p.R114L NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 204 FAD-binding PCMH-type. ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.R204R(1) ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) ATGTTTGAGCGAATTCCTGAT 0.303 NA 30 72 3.67e-24 5.22e-24 1 0 TTN 7273 broad.mit.edu 37 2 179481873 179481873 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:179481873C>A uc010zfg.1 - 204 40369 c.40145G>T c.(40144-40146)GGT>GTT p.G13382V TTN_uc010zfh.1_Missense_Mutation_p.G7077V|TTN_uc010zfi.1_Missense_Mutation_p.G7010V|TTN_uc010zfj.1_Missense_Mutation_p.G6885V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14309 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) GGTGAGAGGACCAAGAATTTC 0.368 NA 7 18 1.13e-05 1.28e-05 1 0 TTN 7273 broad.mit.edu 37 2 179577472 179577472 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:179577472T>A uc010zfg.1 - 91 23772 c.23548A>T c.(23548-23550)AGC>TGC p.S7850C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4511C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8777 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) GCTTCATTGCTAACTATGCAA 0.393 NA 25 69 0 0 0 0 CWC22 57703 broad.mit.edu 37 2 180835757 180835757 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:180835757C>G uc010frh.1 - 9 1151 c.851G>C c.(850-852)AGA>ACA p.R284T CWC22_uc002unp.2_Missense_Mutation_p.R284T NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 284 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding 0 ATCTGTTGGTCTTTCCAGGAG 0.353 NA 16 22 0 0 0 0 CWC22 57703 broad.mit.edu 37 2 180851515 180851515 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:180851515C>G uc010frh.1 - 4 413 c.113G>C c.(112-114)CGA>CCA p.R38P CWC22_uc002unp.2_Missense_Mutation_p.R38P NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 38 Arg-rich. catalytic step 2 spliceosome protein binding|RNA binding 0 CCGGGGGGATCGTTCTTGTTC 0.343 NA 18 17 0 0 0 0 SLC39A10 57181 broad.mit.edu 37 2 196581405 196581405 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:196581405G>A uc002utg.3 + 7 1955 c.1741G>A c.(1741-1743)GAA>AAA p.E581K SLC39A10_uc002uth.3_Missense_Mutation_p.E581K|SLC39A10_uc010zgp.1_Missense_Mutation_p.E131K NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 581 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) TAATGAAACTGAACTGACAGA 0.348 NA 20 33 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196659141 196659142 + Missense_Mutation DNP CC CC TA TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:196659141_196659142CC>TA uc002utj.3 - 57 10737_10738 c.10636_10637GG>TA c.(10636-10638)GGT>TAT p.G3546Y DNAH7_uc002uti.3_Missense_Mutation_p.G29Y NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3546 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGCCCGTAAACCTTTTGGTGCT 0.441 NA 35 83 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196674504 196674504 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:196674504A>C uc002utj.3 - 52 9954 c.9853T>G c.(9853-9855)TGT>GGT p.C3285G NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3285 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATGGTTAGACAAAAGGAAAAG 0.368 NA 19 31 0 0 0 0 HECW2 57520 broad.mit.edu 37 2 197092955 197092955 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:197092955C>A uc002utm.1 - 22 3971 c.3788G>T c.(3787-3789)AGA>ATA p.R1263I HECW2_uc002utl.1_Missense_Mutation_p.R907I NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1263 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GAAAAACTCTCTAGAAGGCCC 0.363 NA 20 29 8.1e-08 9.71e-08 1 0 FZD7 8324 broad.mit.edu 37 2 202900651 202900651 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:202900651G>A uc002uyw.1 + 1 1342 c.1281G>A c.(1279-1281)GCG>GCA p.A427A NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 427 Helical; Name=5; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 TCGTGCTGGCGCCTCTGTTCG 0.617 NA OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 78 0 0 0 0 FZD5 7855 broad.mit.edu 37 2 208632914 208632914 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:208632914C>A uc002vcj.2 - 2 960 c.550G>T c.(550-552)GCT>TCT p.A184S NM_003468 NP_003459 Q13467 FZD5_HUMAN frizzled 5 precursor 184 Extracellular (Potential). angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding ovary(2)|lung(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) GGGCCCCCAGCGGGGCATTCG 0.711 NA 12 11 4.37e-10 5.47e-10 1 0 CUL3 8452 broad.mit.edu 37 2 225371641 225371641 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:225371641C>G uc002vny.2 - 7 1347 c.963G>C c.(961-963)TTG>TTC p.L321F CUL3_uc010zls.1_Missense_Mutation_p.L255F|CUL3_uc010fwy.1_Missense_Mutation_p.L327F NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 321 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTTGCTCCCTCAAATAGGAAC 0.378 NA 26 36 0 0 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563910 228563910 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:228563910A>T uc002vpi.2 - 3 610 c.521T>A c.(520-522)GTC>GAC p.V174D SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.V170D NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 174 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CAAGGATATGACGTTGAGGTA 0.507 NA 27 85 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228890142 228890142 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:228890142C>T uc002vpq.2 - 5 456 c.409G>A c.(409-411)GGA>AGA p.G137R SPHKAP_uc002vpp.2_Missense_Mutation_p.G137R|SPHKAP_uc010zlx.1_Missense_Mutation_p.G137R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 137 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGGAGATTTCCAGAGGCTAAC 0.378 NA 19 60 0 0 0 0 TRIP12 9320 broad.mit.edu 37 2 230652349 230652349 + Nonsense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:230652349G>A uc002vpw.1 - 32 4751 c.4642C>T c.(4642-4644)CAA>TAA p.Q1548* TRIP12_uc002vpx.1_Nonsense_Mutation_p.Q1596*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.Q1278* NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1548 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AAAAGCATTTGCCGGGTATCA 0.353 NA 14 31 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238277511 238277511 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:238277511G>T uc002vwl.2 - 10 4880 c.4595C>A c.(4594-4596)GCG>GAG p.A1532E COL6A3_uc002vwo.2_Missense_Mutation_p.A1326E|COL6A3_uc010znj.1_Missense_Mutation_p.A925E NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1532 VWFA 8.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCGACTCCCCGCAGACTTAAC 0.597 NA 34 46 3.9e-15 5.24e-15 1 0 GAL3ST2 64090 broad.mit.edu 37 2 242741244 242741244 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr2:242741244C>T uc002wcj.1 + 3 299 c.168C>T c.(166-168)TTC>TTT p.F56F NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 56 Lumenal (Potential). biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACATCATGTTCCTGAAGACGC 0.662 NA 18 33 0 0 0 0 C20orf27 54976 broad.mit.edu 37 20 3735131 3735131 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:3735131C>G uc002wji.1 - 5 566 c.337G>C c.(337-339)GAG>CAG p.E113Q C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.E138Q NM_001039140 NP_001034229 Q9GZN8 CT027_HUMAN hypothetical protein LOC54976 113 0 AGGACGCCCTCTTTGTGCGCC 0.632 NA 24 53 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9561116 9561116 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:9561116G>T uc002wnl.2 - 5 1211 c.666C>A c.(664-666)GCC>GCA p.A222A PAK7_uc002wnk.2_Silent_p.A222A|PAK7_uc002wnj.2_Silent_p.A222A|PAK7_uc010gby.1_Silent_p.A222A NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 222 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) AGCTACTCGAGGCTCTCTGAT 0.488 NA 20 43 2.39e-15 3.23e-15 1 0 C20orf160 140706 broad.mit.edu 37 20 30610545 30610545 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:30610545G>T uc002wxf.2 + 6 1029 c.1016G>T c.(1015-1017)CGG>CTG p.R339L C20orf160_uc002wxg.2_5'UTR NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 339 central_nervous_system(3)|ovary(1) 4 TGTGTGGACCGGGCTGGCTAC 0.587 NA 15 46 2.62e-11 3.36e-11 1 0 C20orf114 92747 broad.mit.edu 37 20 31877739 31877739 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:31877739G>T uc002wyw.1 + 4 467 c.306G>T c.(304-306)TCG>TCT p.S102S C20orf114_uc010gej.1_Silent_p.S102S NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 102 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 TGAAGCCCTCGGCCAATGACC 0.542 NA 17 47 9.17e-09 1.12e-08 1 0 BPI 671 broad.mit.edu 37 20 36952317 36952317 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:36952317C>T uc002xib.2 + 8 876 c.814C>T c.(814-816)CCA>TCA p.P272S NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 272 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) TCCCTTTGCTCCACCAGTGAT 0.522 NA 23 45 0 0 0 0 ACTR5 79913 broad.mit.edu 37 20 37378668 37378668 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:37378668C>T uc002xjd.2 + 2 416 c.391C>T c.(391-393)CCC>TCC p.P131S NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 131 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) TGTTGATCATCCCATAGTTTT 0.413 NA 23 55 0 0 0 0 ZNF831 128611 broad.mit.edu 37 20 57769304 57769304 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:57769304G>T uc002yan.2 + 1 3230 c.3230G>T c.(3229-3231)CGC>CTC p.R1077L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1077 intracellular nucleic acid binding|zinc ion binding p.R1077C(1) skin(13)|ovary(1) 14 all_lung(29;0.0085) CGTATCCATCGCCTCTGCATG 0.637 NA 10 32 1.77e-08 2.14e-08 1 0 TAF4 6874 broad.mit.edu 37 20 60581806 60581806 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:60581806T>C uc002ybs.2 - 7 1983 c.1983A>G c.(1981-1983)TTA>TTG p.L661L NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 661 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCAAGGCGGGTAAGCTCCTCT 0.587 NA 16 27 0 0 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597874 62597874 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:62597874G>A uc002yhl.1 - 5 708 c.654C>T c.(652-654)GTC>GTT p.V218V NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGGGTCTGCCGACCGAGACTG 0.597 NA 65 165 0 0 0 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971084 31971084 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:31971084C>G uc011adc.1 - 1 110 c.110G>C c.(109-111)TGC>TCC p.C37S KRTAP22-1_uc011add.1_5'Flank NM_181604 NP_853635 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 37 intermediate filament 0 ATAGCCACAGCAGGAGCTATA 0.562 NA 14 39 0 0 0 0 SYNJ1 8867 broad.mit.edu 37 21 34018775 34018775 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:34018775C>A uc002yqh.2 - 24 3292 c.3292G>T c.(3292-3294)GGT>TGT p.G1098C SYNJ1_uc011ads.1_Missense_Mutation_p.G1054C|SYNJ1_uc002yqf.2_Missense_Mutation_p.G1059C|SYNJ1_uc002yqg.2_Missense_Mutation_p.G1054C|SYNJ1_uc002yqi.2_Missense_Mutation_p.G1098C NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1059 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 GGTACAGGACCCTCTGATATT 0.517 NA 61 99 3.96e-38 5.78e-38 1 0 CLIC6 54102 broad.mit.edu 37 21 36042977 36042977 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:36042977G>C uc010gmt.1 + 1 1290 c.1290G>C c.(1288-1290)GCG>GCC p.A430A CLIC6_uc002yuf.1_Silent_p.A430A NM_053277 NP_444507 Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 430 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity ovary(1)|central_nervous_system(1) 2 GCGAGGCCGCGCGCGTGAACG 0.741 NA 5 4 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41505903 41505903 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:41505903T>A uc002yyq.1 - 19 3892 c.3440A>T c.(3439-3441)CAG>CTG p.Q1147L DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1147 Extracellular (Potential).|Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGTGAAGGCTGTGTGGTGGT 0.532 NA 18 38 0 0 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704494 47704494 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:47704494C>G uc002zir.1 - 1 743 c.707G>C c.(706-708)AGA>ACA p.R236T C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 236 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CTTAGGTCCTCTCTTCTCTTC 0.393 NA 22 67 0 0 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704507 47704507 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:47704507C>G uc002zir.1 - 1 730 c.694G>C c.(694-696)GAG>CAG p.E232Q C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 232 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) TTCTCTTCCTCTACATTTTGG 0.388 NA 21 61 0 0 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843555 22843555 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:22843555C>G uc002zwc.1 - 4 945 c.169G>C c.(169-171)GTT>CTT p.V57L LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ATGTTTGAAACGACTGGTTTT 0.408 NA 30 56 0 0 0 0 GNAZ 2781 broad.mit.edu 37 22 23465617 23465617 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:23465617G>A uc002zwu.1 + 3 1604 c.1067G>A c.(1066-1068)TGA>TAA p.*356* RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 356 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GGCCTTTGCTGAGGAGCTGGG 0.587 NA 6 4 0 0 0 0 SUSD2 56241 broad.mit.edu 37 22 24584279 24584279 + Missense_Mutation SNP C C A rs150371467 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:24584279C>A uc002zzn.1 + 14 2472 c.2428C>A c.(2428-2430)CGC>AGC p.R810S NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 810 Cytoplasmic (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GCTGCTGCGCCGCAGGAAGGG 0.657 NA 8 20 0.00621372 0.00653871 1 0 GGT5 2687 broad.mit.edu 37 22 24622662 24622662 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:24622662C>G uc002zzo.3 - 7 1392 c.975G>C c.(973-975)ACG>ACC p.T325T GGT5_uc002zzp.3_Silent_p.T325T|GGT5_uc002zzr.3_Silent_p.T293T|GGT5_uc002zzq.3_Silent_p.T293T|GGT5_uc011ajm.1_Silent_p.T248T|GGT5_uc011ajn.1_RNA NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 325 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 CAAACTTGAGCGTCTCTACAA 0.612 NA 21 61 0 0 0 0 CRYBB1 1414 broad.mit.edu 37 22 26995525 26995525 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:26995525G>T uc003acy.1 - 6 758 c.688C>A c.(688-690)CGT>AGT p.R230S NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 230 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens ovary(1) 1 CGCAGGCGACGCAGGGACTGC 0.627 NA 21 45 8.1e-08 9.71e-08 1 0 RFPL1 5988 broad.mit.edu 37 22 29835041 29835041 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:29835041G>A uc003afn.2 + 1 470 c.261G>A c.(259-261)AAG>AAA p.K87K RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 87 zinc ion binding 0 TCTCTCAGAAGAACAAAATCA 0.517 NA 28 70 0 0 0 0 DUSP18 150290 broad.mit.edu 37 22 31059931 31059931 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:31059931G>C uc003aiu.2 - 2 561 c.60C>G c.(58-60)CTC>CTG p.L20L SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Silent_p.L20L NM_152511 NP_689724 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 20 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 TTATCTGCGAGAGGCCGCTGA 0.552 NA 15 40 0 0 0 0 GTSE1 51512 broad.mit.edu 37 22 46722418 46722418 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:46722418C>T uc011aqy.1 + 9 1803 c.1591C>T c.(1591-1593)CCC>TCC p.P531S GTSE1_uc011aqz.1_Missense_Mutation_p.P378S|GTSE1_uc003bhl.1_Missense_Mutation_p.P156S|GTSE1_uc003bhm.1_Missense_Mutation_p.P156S|GTSE1_uc003bhn.2_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 512 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GTCAGCCTTGCCCACACCCGC 0.652 NA 21 37 0 0 0 0 PLCL2 23228 broad.mit.edu 37 3 17052928 17052928 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:17052928G>C uc011awc.1 + 5 2171 c.2066G>C c.(2065-2067)TGC>TCC p.C689S PLCL2_uc011awd.1_Missense_Mutation_p.C571S NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 697 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 AAATGTGGTTGCCAAATTGTA 0.418 NA 29 31 0 0 0 0 LYZL4 131375 broad.mit.edu 37 3 42445602 42445602 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:42445602T>C uc003cle.2 - 4 556 c.307A>G c.(307-309)AAT>GAT p.N103D NM_144634 NP_653235 Q96KX0 LYZL4_HUMAN lysozyme-like 4 precursor 103 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.222) TTCTCTAAATTAGGATTCAGT 0.388 NA 18 15 0 0 0 0 CCBP2 1238 broad.mit.edu 37 3 42906247 42906247 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:42906247C>G uc003cme.2 + 3 432 c.253C>G c.(253-255)CTG>GTG p.L85V CCBP2_uc003cmd.1_Missense_Mutation_p.L85V|CCBP2_uc003cmf.2_Missense_Mutation_p.L85V|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 85 Cytoplasmic (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) TGAGATCTATCTGCTGAATCT 0.537 NA 53 51 0 0 0 0 C3orf23 285343 broad.mit.edu 37 3 44449031 44449031 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:44449031G>C uc010him.2 + 11 1593 c.1348G>C c.(1348-1350)GTG>CTG p.V450L C3orf23_uc003cnd.3_Missense_Mutation_p.V450L|C3orf23_uc003cne.3_Missense_Mutation_p.V306L NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 450 mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TATACAAATGGTGGATTGTTG 0.358 NA 19 28 0 0 0 0 ZNF660 285349 broad.mit.edu 37 3 44636619 44636619 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:44636619C>T uc003cnl.1 + 3 1267 c.934C>T c.(934-936)CGG>TGG p.R312W NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 312 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) GAAAGCCTATCGGTATAGTTC 0.408 NA 14 29 0 0 0 0 TGM4 7047 broad.mit.edu 37 3 44945437 44945437 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:44945437G>A uc003coc.3 + 9 1106 c.1033G>A c.(1033-1035)GGC>AGC p.G345S NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 345 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGGCTACGACGGCTGGCAGGC 0.652 NA 35 46 0 0 0 0 USP19 10869 broad.mit.edu 37 3 49149744 49149744 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:49149744C>A uc003cwd.1 - 18 2590 c.2429G>T c.(2428-2430)CGG>CTG p.R810L USP19_uc003cwa.2_Missense_Mutation_p.R618L|USP19_uc003cvz.3_Missense_Mutation_p.R913L|USP19_uc011bcg.1_Missense_Mutation_p.R901L|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R568L|USP19_uc011bch.1_Missense_Mutation_p.R911L NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 810 Cytoplasmic (Potential).|MYND-type. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACGGTAGCACCGGGTACAGCG 0.617 NA 4 6 1.24e-05 1.4e-05 1 0 FEZF2 55079 broad.mit.edu 37 3 62358002 62358002 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:62358002G>C uc003dlh.2 - 1 749 c.542C>G c.(541-543)CCG>CGG p.P181R FEZF2_uc003dli.2_Missense_Mutation_p.P181R NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 181 transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) CTCAGACGGCGGGTACGCGGT 0.672 NA 5 2 0 0 0 0 DPPA4 55211 broad.mit.edu 37 3 109047837 109047837 + Nonsense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:109047837T>A uc003dxq.3 - 6 833 c.778A>T c.(778-780)AAG>TAG p.K260* DPPA4_uc011bho.1_Missense_Mutation_p.K161I NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 260 nucleus protein binding upper_aerodigestive_tract(1) 1 CCTTCTTGCTTTTCTGGAACC 0.517 NA 22 19 0 0 0 0 SEMA5B 54437 broad.mit.edu 37 3 122662294 122662294 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:122662294G>T uc003efz.1 - 4 721 c.417C>A c.(415-417)ATC>ATA p.I139I SEMA5B_uc011bju.1_Silent_p.I81I|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.I139I|SEMA5B_uc010hro.1_Silent_p.I81I|SEMA5B_uc010hrp.1_Intron NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 139 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGGCTCCCACGATGAGCTGGT 0.602 NA 9 16 1.77e-08 2.14e-08 1 0 MYLK 4638 broad.mit.edu 37 3 123333078 123333078 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:123333078G>A uc003ego.2 - 34 5901 c.5619C>T c.(5617-5619)TGC>TGT p.C1873C uc003egk.2_Intron|MYLK_uc003egl.2_Silent_p.C113C|MYLK_uc003egm.2_Silent_p.C112C|MYLK_uc010hrr.2_Silent_p.C308C|MYLK_uc011bjv.1_Silent_p.C673C|MYLK_uc011bjw.1_Silent_p.C1872C|MYLK_uc003egp.2_Silent_p.C1804C|MYLK_uc003egq.2_Silent_p.C1822C|MYLK_uc003egr.2_Silent_p.C1753C|MYLK_uc003egs.2_Silent_p.C1697C NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1873 Ig-like C2-type 9. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CGTCATCCCCGCAAACATCAC 0.498 NA 4 156 0 0 0 0 ZNF148 7707 broad.mit.edu 37 3 125032301 125032301 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:125032301C>T uc003ehx.3 - 4 670 c.184G>A c.(184-186)GAA>AAA p.E62K ZNF148_uc003ehz.3_Missense_Mutation_p.E62K|ZNF148_uc010hsa.2_Missense_Mutation_p.E62K|ZNF148_uc003eia.3_Missense_Mutation_p.E62K|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 62 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 TGTAACACTTCATCTGCAGCA 0.443 NA 96 52 0 0 0 0 RHO 6010 broad.mit.edu 37 3 129249874 129249874 + Missense_Mutation SNP G G C rs139731264 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:129249874G>C uc003emt.2 + 2 612 c.517G>C c.(517-519)GCC>CCC p.A173P NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 173 Helical; Name=4; (Potential). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) ACCCCCACTCGCCGGCTGGTC 0.612 NA 15 36 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130293227 130293227 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:130293227G>A uc010htl.2 + 7 3436 c.3405G>A c.(3403-3405)GTG>GTA p.V1135V NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1135 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCTACTCCGTGGGCATTGGGG 0.552 NA 45 28 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140167468 140167468 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:140167468A>T uc003etn.2 + 6 1085 c.895A>T c.(895-897)ACA>TCA p.T299S CLSTN2_uc003etm.2_Missense_Mutation_p.T299S NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 299 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 CCAGATCGTCACAGAGCTGCA 0.532 NA HNSCC(16;0.037) 35 127 0 0 0 0 MME 4311 broad.mit.edu 37 3 154802866 154802866 + Nonsense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:154802866C>G uc010hvr.1 + 3 390 c.179C>G c.(178-180)TCA>TGA p.S60* MME_uc003fab.1_Nonsense_Mutation_p.S60*|MME_uc003fac.1_Nonsense_Mutation_p.S60*|MME_uc003fad.1_Nonsense_Mutation_p.S60*|MME_uc003fae.1_Nonsense_Mutation_p.S60* NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 60 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) tgcaagtcatcagactgcata 0.179 NA 42 12 0 0 0 0 VEPH1 79674 broad.mit.edu 37 3 157146169 157146169 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:157146169G>T uc003fbj.1 - 5 955 c.638C>A c.(637-639)CCA>CAA p.P213Q VEPH1_uc003fbk.1_Missense_Mutation_p.P213Q|VEPH1_uc010hvu.1_Missense_Mutation_p.P213Q NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 213 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GTACTGTTCTGGCTGTTCCAG 0.443 NA 102 28 5.84e-33 8.49e-33 1 0 SI 6476 broad.mit.edu 37 3 164724621 164724621 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:164724621C>A uc003fei.2 - 37 4451 c.4389G>T c.(4387-4389)CAG>CAT p.Q1463H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1463 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAGGTTTCATCTGTGACCATC 0.358 NA HNSCC(35;0.089) 40 14 3.77e-25 5.39e-25 1 0 SI 6476 broad.mit.edu 37 3 164785240 164785240 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:164785240G>C uc003fei.2 - 6 585 c.523C>G c.(523-525)CAG>GAG p.Q175E NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 175 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTTACATACTGATGAGGAACT 0.338 NA HNSCC(35;0.089) 26 147 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907946 164907946 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:164907946T>A uc003fej.3 - 2 1117 c.673A>T c.(673-675)ATG>TTG p.M225L SLITRK3_uc003fek.2_Missense_Mutation_p.M225L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 225 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TGGAGCTCCATCAGGCTTCTG 0.438 NA HNSCC(40;0.11) 60 80 0 0 0 0 ZBBX 79740 broad.mit.edu 37 3 167068208 167068208 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:167068208C>A uc003fep.2 - 9 851 c.528G>T c.(526-528)CAG>CAT p.Q176H ZBBX_uc011bpc.1_Missense_Mutation_p.Q176H|ZBBX_uc003feq.2_Missense_Mutation_p.Q147H NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 176 intracellular zinc ion binding ovary(2) 2 AAAGCCATACCTGCAAAAGAG 0.343 NA 53 242 8.13e-46 1.19e-45 1 0 MECOM 2122 broad.mit.edu 37 3 168834254 168834254 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:168834254T>C uc003ffi.3 - 7 1111 c.842A>G c.(841-843)TAT>TGT p.Y281C MECOM_uc010hwk.1_Missense_Mutation_p.Y304C|MECOM_uc003ffj.3_Missense_Mutation_p.Y346C|MECOM_uc011bpi.1_Missense_Mutation_p.Y282C|MECOM_uc003ffn.3_Missense_Mutation_p.Y281C|MECOM_uc003ffk.2_Missense_Mutation_p.Y281C|MECOM_uc003ffl.2_Missense_Mutation_p.Y441C|MECOM_uc011bpj.1_Missense_Mutation_p.Y469C|MECOM_uc011bpk.1_Missense_Mutation_p.Y271C|MECOM_uc010hwn.2_Missense_Mutation_p.Y469C NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 281 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 GGCGCCAAAATAGTCAGCAAG 0.493 NA 15 79 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170843830 170843830 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:170843830C>A uc003fhh.2 - 17 2229 c.1884G>T c.(1882-1884)GTG>GTT p.V628V TNIK_uc003fhi.2_Silent_p.V573V|TNIK_uc003fhj.2_Silent_p.V599V|TNIK_uc003fhk.2_Silent_p.V628V|TNIK_uc003fhl.2_Silent_p.V544V|TNIK_uc003fhm.2_Silent_p.V573V|TNIK_uc003fhn.2_Silent_p.V599V|TNIK_uc003fho.2_Silent_p.V544V NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 628 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGTGGGAGGTCACGTTCAGAG 0.577 NA 18 83 0.00121646 0.00130453 1 0 MAP3K13 9175 broad.mit.edu 37 3 185161246 185161246 + Nonsense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:185161246C>T uc010hyf.2 + 5 939 c.673C>T c.(673-675)CAG>TAG p.Q225* MAP3K13_uc011brt.1_Nonsense_Mutation_p.Q18*|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Nonsense_Mutation_p.Q81*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.Q225*|MAP3K13_uc010hyg.2_Intron NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 225 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGTTTGTACTCAGGCCCCATG 0.308 NA 76 35 0 0 0 0 DOK7 285489 broad.mit.edu 37 4 3494900 3494900 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:3494900A>T uc003ghd.2 + 7 1257 c.1187A>T c.(1186-1188)CAG>CTG p.Q396L DOK7_uc003ghe.2_Missense_Mutation_p.Q258L|DOK7_uc003ghf.2_Missense_Mutation_p.R138W|DOK7_uc003ghg.1_Missense_Mutation_p.Q86L NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 396 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GTCGAGTACCAGGTGCCCACC 0.692 NA 6 10 0 0 0 0 LRPAP1 4043 broad.mit.edu 37 4 3516631 3516631 + Nonsense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:3516631T>A uc003ghi.2 - 7 944 c.859A>T c.(859-861)AAA>TAA p.K287* NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 287 LDL receptor binding (Potential).|Potential. negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TTCTCGATTTTGGCTTCGAAG 0.592 NA 43 92 0 0 0 0 ZNF518B 85460 broad.mit.edu 37 4 10444812 10444812 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:10444812G>A uc003gmn.2 - 3 3628 c.3141C>T c.(3139-3141)GAC>GAT p.D1047D NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 1047 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 ACTCTTCCTGGTCTTCATACA 0.413 NA 31 80 0 0 0 0 KCNIP4 80333 broad.mit.edu 37 4 21305453 21305454 + Missense_Mutation DNP CC CC AG TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:21305453_21305454CC>AG uc003gqf.1 - 1 76_77 c.76_77GG>CT c.(76-78)GGG>CTG p.G26L KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron NM_147183 NP_671712 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 4 Error:Variant_position_missing_in_Q6PIL6_after_alignment plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) TTCAATCAGCCCAAACTGTTCC 0.396 NA 8 37 0 0 0 0 ARAP2 116984 broad.mit.edu 37 4 36075423 36075423 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:36075423G>C uc003gsq.1 - 32 4969 c.4631C>G c.(4630-4632)CCA>CGA p.P1544R ARAP2_uc003gso.2_RNA NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1544 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTTTCCAGCTGGTGGCCATAT 0.413 NA 36 67 0 0 0 0 PHOX2B 8929 broad.mit.edu 37 4 41749478 41749478 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:41749478G>C uc003gwf.3 - 2 677 c.317C>G c.(316-318)ACC>AGC p.T106S NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 106 Homeobox. positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 CTGGGCACTGGTGAAAGTGGT 0.572 NA Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 23 59 0 0 0 0 PDGFRA 5156 broad.mit.edu 37 4 55156559 55156559 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:55156559C>A uc003han.3 + 22 3291 c.2960C>A c.(2959-2961)GCA>GAA p.A987E PDGFRA_uc003haa.2_Missense_Mutation_p.A747E NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 987 Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TCAGACAATGCATACATTGGT 0.468 NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 28 82 2.13e-12 2.77e-12 1 0 KIT 3815 broad.mit.edu 37 4 55592133 55592133 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:55592133A>T uc010igr.2 + 9 1544 c.1457A>T c.(1456-1458)AAT>ATT p.N486I KIT_uc010igs.2_Missense_Mutation_p.N486I|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 486 Extracellular (Potential).|Ig-like C2-type 5. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.N486D(1)|p.D479fs*2(1) soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTCAAGCACAATGGCACGGTT 0.403 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 24 50 0 0 0 0 KDR 3791 broad.mit.edu 37 4 55987310 55987310 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:55987310C>T uc003has.2 - 2 417 c.115G>A c.(115-117)GAC>AAC p.D39N KDR_uc003hat.1_Missense_Mutation_p.D39N|KDR_uc011bzx.1_Missense_Mutation_p.D39N NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 39 Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTAAGTATGTCTTTTTGTATG 0.333 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 16 62 0 0 0 0 KIAA1211 57482 broad.mit.edu 37 4 57190344 57190344 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:57190344A>G uc003hbk.2 + 10 3844 c.3453A>G c.(3451-3453)CCA>CCG p.P1151P KIAA1211_uc010iha.2_Silent_p.P1144P NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 1151 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CTGCTCTGCCAGAAGAGAAGA 0.572 NA 16 37 0 0 0 0 TECRL 253017 broad.mit.edu 37 4 65180375 65180375 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:65180375G>A uc003hcv.2 - 5 651 c.542C>T c.(541-543)CCA>CTA p.P181L TECRL_uc003hcw.2_Missense_Mutation_p.P181L NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 181 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CTGTACCACTGGGTGGCGTAA 0.303 NA 19 42 0 0 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68919654 68919654 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:68919654A>G uc003hdt.1 - 10 1339 c.1290T>C c.(1288-1290)GAT>GAC p.D430D LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 430 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AGGCAATCCAATCTCGATACT 0.408 NA 33 60 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69693223 69693223 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:69693223A>G uc003hee.2 + 5 1289 c.1264A>G c.(1264-1266)ACA>GCA p.T422A UGT2B10_uc011cam.1_Missense_Mutation_p.T338A NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 422 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 AATGTCGAGTACAGACCTGCT 0.388 NA 53 91 0 0 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978304 69978304 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:69978304C>A uc003heg.3 + 6 1486 c.1440C>A c.(1438-1440)GCC>GCA p.A480A UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 480 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 GGGTTGCAGCCCACGACCTCA 0.483 NA 52 118 4.26e-23 6e-23 1 0 GC 2638 broad.mit.edu 37 4 72622457 72622457 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:72622457C>A uc003hge.2 - 8 1159 c.1006G>T c.(1006-1008)GAT>TAT p.D336Y GC_uc003hgd.2_Missense_Mutation_p.D214Y|GC_uc010iie.2_Missense_Mutation_p.D336Y|GC_uc010iif.2_Missense_Mutation_p.D355Y NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 336 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTTCCTGGATCACACACATCT 0.453 NA 8 33 5.18e-06 5.92e-06 1 0 GC 2638 broad.mit.edu 37 4 72629169 72629169 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:72629169G>C uc003hge.2 - 6 810 c.657C>G c.(655-657)GTC>GTG p.V219V GC_uc003hgd.2_Silent_p.V97V|GC_uc010iie.2_Silent_p.V219V|GC_uc010iif.2_Silent_p.V238V NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 219 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) ATTGTGAGCAGACTCTATTTG 0.368 NA 16 39 0 0 0 0 NAA11 84779 broad.mit.edu 37 4 80247017 80247017 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:80247017G>C uc003hlt.3 - 1 155 c.15C>G c.(13-15)AAC>AAG p.N5K NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 5 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 CTGGCTGAGCGTTGCGGATGT 0.512 NA 13 24 0 0 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109674060 109674060 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:109674060A>T uc003hzc.2 - 6 790 c.609T>A c.(607-609)AGT>AGA p.S203R AGXT2L1_uc010imc.2_Missense_Mutation_p.S197R|AGXT2L1_uc011cfm.1_Missense_Mutation_p.S163R|AGXT2L1_uc011cfn.1_Missense_Mutation_p.S130R|AGXT2L1_uc011cfo.1_Missense_Mutation_p.S145R NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 203 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) CCTTCCTTCCACTGTTATGAG 0.363 NA 33 86 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111452358 111452358 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:111452358A>G uc003iab.3 + 11 2074 c.1732A>G c.(1732-1734)ACA>GCA p.T578A NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 578 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ttttaGTTATACATGGAATAT 0.184 NA 15 22 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114214656 114214656 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:114214656C>A uc003ibe.3 + 22 2537 c.2437C>A c.(2437-2439)CTG>ATG p.L813M ANK2_uc003ibd.3_Missense_Mutation_p.L792M|ANK2_uc003ibf.3_Missense_Mutation_p.L813M|ANK2_uc011cgc.1_Missense_Mutation_p.L22M|ANK2_uc003ibc.2_Missense_Mutation_p.L789M|ANK2_uc011cgb.1_Missense_Mutation_p.L828M NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 813 ANK 24. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGTCGACACCCTGAAGGTTGT 0.408 NA 17 26 5.39e-06 6.14e-06 1 0 PHF17 79960 broad.mit.edu 37 4 129770159 129770159 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:129770159C>T uc003igk.2 + 5 601 c.321C>T c.(319-321)CTC>CTT p.L107L PHF17_uc003igj.2_Silent_p.L107L|PHF17_uc003igl.2_Intron|PHF17_uc011cgy.1_Silent_p.L107L|PHF17_uc003igm.2_Silent_p.L107L NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 107 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 AGAAATCCCTCATGTTCATCA 0.517 NA 28 64 0 0 0 0 PCDH18 54510 broad.mit.edu 37 4 138452706 138452706 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:138452706A>T uc003ihe.3 - 1 924 c.537T>A c.(535-537)AAT>AAA p.N179K PCDH18_uc003ihf.3_Missense_Mutation_p.N172K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 179 Extracellular (Potential).|Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TAAAAAAATCATTGGCAGAGA 0.483 NA 17 40 0 0 0 0 RNF150 57484 broad.mit.edu 37 4 142053645 142053645 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:142053645G>T uc003iio.1 - 1 972 c.318C>A c.(316-318)ACC>ACA p.T106T RNF150_uc010iok.1_Silent_p.T106T|RNF150_uc003iip.1_Silent_p.T106T NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 106 Extracellular (Potential).|PA. integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) CGGCGAACTTGGTGTTGGGGT 0.672 NA 8 10 5.18e-06 5.92e-06 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156629432 156629432 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:156629432A>C uc003iov.2 + 6 898 c.362A>C c.(361-363)CAA>CCA p.Q121P GUCY1A3_uc003iou.2_Missense_Mutation_p.Q121P|GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q121P|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q121P|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q121P|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q121P|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q121P|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q121P NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 121 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ATTGCAGAGCAAGCAGTTGCA 0.274 NA 29 56 0 0 0 0 NPY1R 4886 broad.mit.edu 37 4 164247365 164247365 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:164247365C>G uc003iqm.1 - 2 608 c.342G>C c.(340-342)AAG>AAC p.K114N NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 114 Extracellular (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAGGATTCAACTTACACATCG 0.443 NA 19 46 0 0 0 0 TRIM60 166655 broad.mit.edu 37 4 165962140 165962140 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:165962140C>A uc003iqy.1 + 3 1086 c.916C>A c.(916-918)CCT>ACT p.P306T TRIM60_uc010iqx.1_Missense_Mutation_p.P306T NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 306 B30.2/SPRY. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) CACAGCACATCCTCAACTTCT 0.383 NA 36 77 9.46e-24 1.34e-23 1 0 DDX60L 91351 broad.mit.edu 37 4 169305796 169305796 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:169305796G>T uc003irq.3 - 30 4304 c.4083C>A c.(4081-4083)TCC>TCA p.S1361S NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1361 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CATCTCCCTTGGAAGCCAGCA 0.547 NA 10 22 9.7e-10 1.21e-09 1 0 PALLD 23022 broad.mit.edu 37 4 169630280 169630280 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr4:169630280C>A uc011cjx.1 + 9 1814 c.1603C>A c.(1603-1605)CAG>AAG p.Q535K PALLD_uc003iru.2_Missense_Mutation_p.Q535K|PALLD_uc003irv.2_Missense_Mutation_p.Q153K NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 535 Ig-like C2-type 2. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CAGCACTGCCCAGCTGGTTGT 0.488 NA Pancreatic_Cancer_Familial_Clustering_of 23 45 9.58e-11 1.22e-10 1 0 IRX1 79192 broad.mit.edu 37 5 3599662 3599663 + Nonsense_Mutation DNP GG GG CT TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:3599662_3599663GG>CT uc003jde.2 + 2 652_653 c.600_601GG>CT c.(598-603)CAGGAA>CACTAA p.200_201QE>H* NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 200_201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GCAAGGACCAGGAAGATGGAGC 0.624 NA 35 56 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154600 9154600 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:9154600C>A uc003jek.2 - 12 2193 c.1481G>T c.(1480-1482)AGC>ATC p.S494I NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 494 Extracellular (Potential). S -> R (in Ref. 2; AAC14668). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GATGCCCTACCTGCGTGTGCG 0.612 NA 38 39 3.28e-08 3.96e-08 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33535075 33535075 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:33535075C>A uc003jia.1 - 23 4632 c.4469G>T c.(4468-4470)GGC>GTC p.G1490V ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1405V NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1490 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTTCTGAAAGCCACCTCCACA 0.493 NA HNSCC(64;0.19) 32 44 1.56e-22 2.2e-22 1 0 WDR70 55100 broad.mit.edu 37 5 37727134 37727134 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:37727134C>T uc003jkv.2 + 17 1922 c.1864C>T c.(1864-1866)CCA>TCA p.P622S NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 622 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGGGTTTCTCCAGCATATTC 0.383 NA 68 88 0 0 0 0 C9 735 broad.mit.edu 37 5 39306836 39306836 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:39306836G>C uc003jlv.3 - 9 1388 c.1299C>G c.(1297-1299)ACC>ACG p.T433T NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 433 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CATATTTTCTGGTTCCACCTC 0.403 NA 32 73 0 0 0 0 CARD6 84674 broad.mit.edu 37 5 40843302 40843302 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:40843302G>C uc003jmg.2 + 2 407 c.332G>C c.(331-333)AGC>ACC p.S111T NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 111 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 ATGGGGGCAAGCAGTAATTCA 0.383 NA 50 83 0 0 0 0 C6 729 broad.mit.edu 37 5 41160245 41160245 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:41160245G>T uc003jmk.2 - 11 1893 c.1683C>A c.(1681-1683)TCC>TCA p.S561S C6_uc003jml.1_Silent_p.S561S NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 561 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GATACTTACTGGATTTATAAT 0.408 NA 50 94 3.68e-26 5.27e-26 1 0 HMGCS1 3157 broad.mit.edu 37 5 43298817 43298817 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:43298817T>C uc003jnr.3 - 3 458 c.251A>G c.(250-252)TAT>TGT p.Y84C HMGCS1_uc003jnq.3_Missense_Mutation_p.Y84C NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 84 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 AATGCAATCATAGGAAAGGTT 0.428 NA 70 116 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45262356 45262356 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:45262356G>C uc003jok.2 - 8 2365 c.2340C>G c.(2338-2340)ACC>ACG p.T780T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 780 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGACTTCCCGGGTCAGGTTGG 0.592 NA 22 61 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45396681 45396681 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:45396681G>T uc003jok.2 - 4 1168 c.1143C>A c.(1141-1143)GTC>GTA p.V381V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 381 Helical; Name=Segment S6; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGGTGGCCCCGACGATCATGC 0.507 NA 18 75 5.04e-11 6.44e-11 1 0 BDP1 55814 broad.mit.edu 37 5 70798483 70798483 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:70798483A>G uc003kbp.1 + 15 2369 c.2106A>G c.(2104-2106)GTA>GTG p.V702V BDP1_uc003kbn.1_Silent_p.V702V|BDP1_uc003kbo.2_Silent_p.V702V NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 702 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAAGACCTGTACAAGTGAGGG 0.383 NA 23 14 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71492996 71492996 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:71492996C>A uc003kbw.3 + 5 4055 c.3814C>A c.(3814-3816)CTG>ATG p.L1272M MAP1B_uc010iyw.1_Missense_Mutation_p.L1289M|MAP1B_uc010iyx.1_Missense_Mutation_p.L1146M|MAP1B_uc010iyy.1_Missense_Mutation_p.L1146M NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1272 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAAGACCCCCCTGGGTGAACG 0.517 NA 51 23 3.86e-30 5.59e-30 1 0 NSA2 10412 broad.mit.edu 37 5 74069717 74069717 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:74069717G>C uc003kdk.1 + 5 630 c.547G>C c.(547-549)GTA>CTA p.V183L NM_014886 NP_055701 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog 183 rRNA processing nucleolus|ribonucleoprotein complex ovary(1) 1 GAAAGCCCATGTAACACATCC 0.403 NA 31 20 0 0 0 0 MEF2C 4208 broad.mit.edu 37 5 88119602 88119603 + Missense_Mutation DNP CC CC AA TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:88119602_88119603CC>AA uc003kjj.2 - 2 676_677 c.3_4GG>TT c.(1-6)ATGGGG>ATTTGG p.1_2MG>IW MEF2C_uc003kji.2_Missense_Mutation_p.1_2MG>IW|MEF2C_uc003kjk.2_Missense_Mutation_p.1_2MG>IW|MEF2C_uc003kjm.2_Missense_Mutation_p.1_2MG>IW|MEF2C_uc003kjl.2_Missense_Mutation_p.1_2MG>IW NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 1_2 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TTTTTTCTCCCCATAGTCCCCG 0.342 NA HNSCC(66;0.2) 136 137 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89986666 89986666 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:89986666G>A uc003kju.2 + 31 6855 c.6759G>A c.(6757-6759)AAG>AAA p.K2253K GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2253 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTCAGTGAAGGTAAACCTGC 0.428 NA 17 10 0 0 0 0 POU5F2 134187 broad.mit.edu 37 5 93076445 93076445 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:93076445C>T uc003kkl.1 - 1 865 c.825G>A c.(823-825)CGG>CGA p.R275R FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 275 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) CCACAATCTCCCGTGGGGAAG 0.577 NA 6 16 0 0 0 0 LMNB1 4001 broad.mit.edu 37 5 126154638 126154638 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:126154638C>G uc003kud.1 + 6 1332 c.964C>G c.(964-966)CAA>GAA p.Q322E LMNB1_uc003kuc.2_Missense_Mutation_p.Q322E|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.Q112E NM_005573 NP_005564 P20700 LMNB1_HUMAN lamin B1 322 Rod.|Coil 2. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity kidney(1)|central_nervous_system(1) 2 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) GGAAAGGATTCAAGAATTAGA 0.388 NA 69 41 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127595187 127595187 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:127595187C>A uc003kuu.2 - 65 9138 c.8699G>T c.(8698-8700)GGG>GTG p.G2900V NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2900 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAGAGCCTCCCCAAGCTCCCC 0.493 NA 62 44 9.54e-28 1.37e-27 1 0 FBN2 2201 broad.mit.edu 37 5 127702106 127702106 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:127702106A>T uc003kuu.2 - 17 2705 c.2266T>A c.(2266-2268)TGT>AGT p.C756S FBN2_uc003kuv.2_Missense_Mutation_p.C723S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 756 TB 3. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCACTACTACAAAGGCCGTGG 0.318 NA 19 16 0 0 0 0 TGFBI 7045 broad.mit.edu 37 5 135379745 135379745 + Splice_Site SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:135379745A>G uc003lbf.3 + 3 395 c.234_splice c.e3-2 p.T78_splice TGFBI_uc003lbg.3_Splice_Site|TGFBI_uc003lbh.3_Splice_Site|TGFBI_uc011cyb.1_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCTTGTTACAGAGTCATCAG 0.537 NA 95 51 0 0 0 0 TRPC7 57113 broad.mit.edu 37 5 135692763 135692763 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:135692763G>A uc003lbn.1 - 1 313 c.310C>T c.(310-312)CGG>TGG p.R104W TRPC7_uc010jef.1_Missense_Mutation_p.R96W|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R96W|TRPC7_uc010jei.1_Missense_Mutation_p.R96W|TRPC7_uc010jej.1_Translation_Start_Site NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 105 Cytoplasmic (Potential).|ANK 2. axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCCCCACCCGTGCCAGGTTC 0.652 NA 37 21 0 0 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188125 140188125 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140188125C>T uc003lhi.2 + 1 1454 c.1353C>T c.(1351-1353)AAC>AAT p.N451N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.N451N|PCDHA4_uc011daa.1_Silent_p.N451N NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 451 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACAACGCTCCGGCGT 0.647 NA 62 28 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209711 140209711 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140209711T>A uc003lho.2 + 1 2062 c.2035T>A c.(2035-2037)TCA>ACA p.S679T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.S679T NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 679 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAAAGGCGTCATCACGGGC 0.677 NA 40 29 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236619 140236619 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140236619T>C uc003lhx.2 + 1 986 c.986T>C c.(985-987)ATG>ACG p.M329T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.M329T|PCDHA10_uc011dad.1_Missense_Mutation_p.M329T NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 329 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCCACCTATGGTTGGTCAC 0.408 NA 34 39 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237225 140237225 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140237225A>T uc003lhx.2 + 1 1592 c.1592A>T c.(1591-1593)CAG>CTG p.Q531L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.Q531L|PCDHA10_uc011dad.1_Missense_Mutation_p.Q531L NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 531 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGCTACAGTTCCAGGTG 0.677 NA 80 49 0 0 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256339 140256339 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140256339C>A uc003lic.2 + 1 1409 c.1282C>A c.(1282-1284)CGG>AGG p.R428R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.R428R NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGACTGCGCGGGATGGGGG 0.637 NA 124 76 1.16e-64 1.71e-64 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554035 140554035 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140554035C>T uc003lit.2 + 1 1793 c.1619C>T c.(1618-1620)GCG>GTG p.A540V NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 540 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTCCCCCGCGCTGAGCAGC 0.697 NA 45 32 0 0 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762824 140762824 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140762824G>T uc003lka.1 + 1 358 c.358G>T c.(358-360)GAC>TAC p.D120Y 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_uc003ljz.1_Missense_Mutation_p.D120Y NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 120 Cadherin 1.|Extracellular (Potential). 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) TTACCCTATAGACGTGGAAAT 0.418 NA 60 37 7.51e-29 1.08e-28 1 0 PPP2R2B 5521 broad.mit.edu 37 5 146017900 146017900 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:146017900C>G uc003loe.2 - 6 1229 c.704G>C c.(703-705)TGC>TCC p.C235S PPP2R2B_uc010jgm.2_Missense_Mutation_p.C224S|PPP2R2B_uc003log.3_Missense_Mutation_p.C235S|PPP2R2B_uc003lof.3_Missense_Mutation_p.C235S|PPP2R2B_uc003loi.3_Missense_Mutation_p.C238S|PPP2R2B_uc003loh.3_Missense_Mutation_p.C235S|PPP2R2B_uc003loj.3_Missense_Mutation_p.C215S|PPP2R2B_uc003lok.3_Missense_Mutation_p.C224S|PPP2R2B_uc011dbu.1_Missense_Mutation_p.C241S|PPP2R2B_uc011dbv.1_Missense_Mutation_p.C293S NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 235 WD 4. apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAAGGTGTTGCAATGATGGGG 0.542 NA 43 21 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176637520 176637520 + Nonsense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:176637520C>G uc003mfr.3 + 5 2258 c.2120C>G c.(2119-2121)TCA>TGA p.S707* NSD1_uc003mft.3_Nonsense_Mutation_p.S438*|NSD1_uc003mfs.1_Nonsense_Mutation_p.S604*|NSD1_uc011dfx.1_Nonsense_Mutation_p.S355* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 707 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ATTAGTAACTCACATACAGAC 0.403 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 43 25 0 0 0 0 RNF182 221687 broad.mit.edu 37 6 13977639 13977639 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:13977639G>A uc003nbe.2 + 3 707 c.289G>A c.(289-291)GGG>AGG p.G97R RNF182_uc003nbf.2_Missense_Mutation_p.G97R|RNF182_uc003nbg.2_Missense_Mutation_p.G97R NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 97 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TGGAGGCAAAGGGAAGAAGTG 0.542 NA 58 84 0 0 0 0 GPLD1 2822 broad.mit.edu 37 6 24473885 24473885 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:24473885T>A uc003ned.1 - 6 563 c.452A>T c.(451-453)CAC>CTC p.H151L GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Missense_Mutation_p.H151L|GPLD1_uc003nee.2_Missense_Mutation_p.H151L NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 151 extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 ATAGGAGCCGTGAAAATCAAT 0.393 NA 22 15 0 0 0 0 SLC17A1 6568 broad.mit.edu 37 6 25830751 25830751 + Splice_Site SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:25830751C>T uc003nfh.3 - 2 150 c.34_splice c.e2+1 p.V12_splice SLC17A1_uc011djy.1_Intron|SLC17A1_uc010jqb.1_Splice_Site_p.V10_splice|SLC17A1_uc010jqc.1_Intron NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 TAAAGTGCTACCTTTTTTGGG 0.398 NA 66 73 0 0 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197203 26197203 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:26197203C>A uc003ngv.2 - 2 673 c.276G>T c.(274-276)GCG>GCT p.A92A HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 92 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) CCTCCTGCAGCGCCATCACCG 0.587 NA 31 99 2.08e-15 2.82e-15 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27835170 27835170 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:27835170C>T uc003njx.2 - 1 190 c.138G>A c.(136-138)CTG>CTA p.L46L NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 46 H15. nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CCTTGGTGATCAGCTCTGAGA 0.602 NA 25 87 0 0 0 0 OR11A1 26531 broad.mit.edu 37 6 29394860 29394860 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:29394860C>A uc003nmg.2 - 1 650 c.559G>T c.(559-561)GGC>TGC p.G187C NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAAGCCAGGCCCACGAAAAGC 0.507 NA 21 14 2.89e-11 3.7e-11 1 0 DNAH8 1769 broad.mit.edu 37 6 38905924 38905924 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:38905924C>A uc003ooe.1 + 76 11687 c.11087C>A c.(11086-11088)ACA>AAA p.T3696K DNAH8_uc003oog.1_Missense_Mutation_p.T145K|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTCCTCATCACAGAGATGAGC 0.522 NA 52 25 1.21e-23 1.72e-23 1 0 DAAM2 23500 broad.mit.edu 37 6 39864638 39864638 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:39864638A>T uc003oow.2 + 20 2548 c.2392A>T c.(2392-2394)ATG>TTG p.M798L DAAM2_uc003oox.2_Missense_Mutation_p.M798L NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 798 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TCTTAGACAGATGCTAGAGGT 0.622 NA 18 8 0 0 0 0 CUL9 23113 broad.mit.edu 37 6 43170895 43170895 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:43170895A>G uc003ouk.2 + 18 3877 c.3802A>G c.(3802-3804)AAC>GAC p.N1268D CUL9_uc003oul.2_Missense_Mutation_p.N1268D|CUL9_uc010jyk.2_Missense_Mutation_p.N420D NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1268 DOC. N -> S (in Ref. 3; CAH18328). ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GGAGAACCTGAACCGCTTCTG 0.577 NA 23 28 0 0 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55443753 55443753 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:55443753G>T uc003pcn.2 - 1 260 c.101C>A c.(100-102)CCC>CAC p.P34H HMGCLL1_uc003pco.2_Missense_Mutation_p.P34H|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.P34H|HMGCLL1_uc011dxd.1_Missense_Mutation_p.P34H|HMGCLL1_uc011dxe.1_Missense_Mutation_p.P34H|HMGCLL1_uc003pcp.2_Missense_Mutation_p.P34H NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 34 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TACCTGCGCGGGGTCGAGCGC 0.647 NA 5 3 1.02e-07 1.23e-07 1 0 BAI3 577 broad.mit.edu 37 6 69666697 69666697 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:69666697C>A uc003pev.3 + 8 1969 c.1521C>A c.(1519-1521)TGC>TGA p.C507* BAI3_uc010kak.2_Nonsense_Mutation_p.C507* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 507 TSP type-1 4.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGCAGCGATGCCCTGGTGAGA 0.423 NA 39 30 1.5e-21 2.1e-21 1 0 TBX18 9096 broad.mit.edu 37 6 85446515 85446515 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:85446515G>T uc003pkl.1 - 8 1712 c.1712C>A c.(1711-1713)CCT>CAT p.P571H TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 571 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCCTTCCACAGGGGGCAACAT 0.522 NA 40 18 4.05e-12 5.27e-12 1 0 GPR63 81491 broad.mit.edu 37 6 97246760 97246760 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:97246760A>G uc010kcl.2 - 3 1326 c.848T>C c.(847-849)ATA>ACA p.I283T GPR63_uc003pou.2_Missense_Mutation_p.I283T NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 283 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GCTGAGGCATATACCTTCAGG 0.473 NA 47 24 0 0 0 0 PRDM1 639 broad.mit.edu 37 6 106547326 106547326 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:106547326A>T uc003prd.2 + 4 797 c.563A>T c.(562-564)AAG>ATG p.K188M PRDM1_uc003pre.2_Missense_Mutation_p.K54M NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 188 SET. negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TACACCATTAAGCCCATCCCT 0.502 NA D|N|Mis|F|S DLBCL 27 30 0 0 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127963 117127963 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:117127963C>A uc003pxj.1 - 3 927 c.905G>T c.(904-906)AGT>ATT p.S302I GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S302I NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 302 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CCAATTATCACTAGCAATCCA 0.363 NA 44 41 9.39e-22 1.32e-21 1 0 ENPP3 5169 broad.mit.edu 37 6 132043384 132043384 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:132043384C>A uc003qcu.3 + 19 1932 c.1585C>A c.(1585-1587)CCA>ACA p.P529T ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.P529T NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 529 Extracellular (Potential). immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) ACGCATTCAACCAGCACCAAA 0.408 NA 29 23 3.67e-24 5.22e-24 1 0 TAAR9 134860 broad.mit.edu 37 6 132859539 132859539 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:132859539C>T uc011eci.1 + 1 113 c.111C>T c.(109-111)GCC>GCT p.A37A NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 37 Extracellular (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TCCTCTACGCCGTCCTTGGTT 0.478 NA 33 17 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146755793 146755793 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:146755793C>T uc010khw.1 + 9 3916 c.3446C>T c.(3445-3447)TCG>TTG p.S1149L GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1149 Ser-rich.|Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACGCCTCCGTCGCCTTTCCGC 0.657 NA 5 43 0 0 0 0 SASH1 23328 broad.mit.edu 37 6 148867161 148867161 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:148867161G>T uc003qme.1 + 19 3834 c.3359G>T c.(3358-3360)TGT>TTT p.C1120F SASH1_uc003qmf.1_Missense_Mutation_p.C530F NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1120 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CATGGCCGCTGTGGGATTCCT 0.498 NA 39 19 1.75e-18 2.41e-18 1 0 LATS1 9113 broad.mit.edu 37 6 150005102 150005102 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:150005102G>A uc003qmu.1 - 4 1671 c.1123C>T c.(1123-1125)CCA>TCA p.P375S LATS1_uc010kif.1_Missense_Mutation_p.P270S|LATS1_uc003qmv.1_Missense_Mutation_p.P375S|LATS1_uc003qmw.2_Missense_Mutation_p.P375S|LATS1_uc010kig.1_Missense_Mutation_p.P270S NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 375 PPxY motif 1. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGAGGATATGGAGGTGGTGGC 0.478 NA 40 30 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152605236 152605236 + Silent SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:152605236C>G uc010kiw.2 - 96 18686 c.18084G>C c.(18082-18084)CTG>CTC p.L6028L SYNE1_uc010kiv.2_Silent_p.L552L|SYNE1_uc003qos.3_Silent_p.L552L|SYNE1_uc003qot.3_Silent_p.L5957L|SYNE1_uc003qou.3_Silent_p.L6028L|SYNE1_uc010kiy.1_Silent_p.L207L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6028 Spectrin 20.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACTCGGATACCAGCTCCTCTG 0.542 NA HNSCC(10;0.0054) 35 25 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152631122 152631122 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:152631122G>A uc010kiw.2 - 90 17652 c.17050C>T c.(17050-17052)CCG>TCG p.P5684S SYNE1_uc010kiv.2_Missense_Mutation_p.P208S|SYNE1_uc003qos.3_Missense_Mutation_p.P208S|SYNE1_uc003qot.3_Missense_Mutation_p.P5613S|SYNE1_uc003qou.3_Missense_Mutation_p.P5684S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5684 Spectrin 18.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCACCTTCGGCTTCAGTGAC 0.448 NA HNSCC(10;0.0054) 30 19 0 0 0 0 VIP 7432 broad.mit.edu 37 6 153077303 153077303 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:153077303C>A uc003qpe.2 + 5 542 c.370C>A c.(370-372)CGT>AGT p.R124S VIP_uc003qpf.2_Missense_Mutation_p.R123S|VIP_uc010kjd.2_Missense_Mutation_p.R123S NM_003381 NP_003372 P01282 VIP_HUMAN vasoactive intestinal peptide isoform 1 124 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity 0 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) ACCAGTCAAACGTCACTCAGA 0.383 NA 67 43 1.93e-29 2.79e-29 1 0 SLC22A2 6582 broad.mit.edu 37 6 160668217 160668217 + Missense_Mutation SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr6:160668217T>G uc003qtf.2 - 5 1126 c.956A>C c.(955-957)CAG>CCG p.Q319P SLC22A2_uc003qte.1_Missense_Mutation_p.Q319P NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 319 Cytoplasmic (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CTGGCTCACCTGAAGGGAGGC 0.488 NA 50 27 0 0 0 0 MAD1L1 8379 broad.mit.edu 37 7 1937853 1937853 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:1937853C>T uc003slh.1 - 18 2247 c.1981G>A c.(1981-1983)GAC>AAC p.D661N MAD1L1_uc003sle.1_Missense_Mutation_p.D390N|MAD1L1_uc003slf.1_Missense_Mutation_p.D661N|MAD1L1_uc003slg.1_Missense_Mutation_p.D661N|MAD1L1_uc010ksh.1_Missense_Mutation_p.D661N|MAD1L1_uc003sli.1_Missense_Mutation_p.D569N|MAD1L1_uc010ksi.1_Missense_Mutation_p.D614N|MAD1L1_uc010ksj.2_Missense_Mutation_p.D661N|MAD1L1_uc003sld.1_Missense_Mutation_p.D117N NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 661 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ATGAGGCAGTCGCCTGGGTGC 0.627 NA 4 9 0 0 0 0 DGKB 1607 broad.mit.edu 37 7 14722240 14722240 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:14722240G>T uc003ssz.2 - 11 1160 c.973C>A c.(973-975)CAC>AAC p.H325N DGKB_uc011jxt.1_Missense_Mutation_p.H318N|DGKB_uc003sta.2_Missense_Mutation_p.H325N|DGKB_uc011jxu.1_Missense_Mutation_p.H325N NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 325 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) ACAGTTTTGTGGCACTTATCA 0.423 NA 40 93 1.49e-12 1.95e-12 1 0 PRPS1L1 221823 broad.mit.edu 37 7 18067285 18067285 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:18067285A>T uc003stz.2 - 1 202 c.121T>A c.(121-123)TGC>AGC p.C41S NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 41 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) ATTTCCACGCAGGTCTCCTGG 0.512 NA 65 138 0 0 0 0 CRHR2 1395 broad.mit.edu 37 7 30706845 30706845 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:30706845T>C uc003tbn.2 - 3 558 c.314A>G c.(313-315)AAG>AGG p.K105R CRHR2_uc010kvw.1_Missense_Mutation_p.K105R|CRHR2_uc010kvx.1_Missense_Mutation_p.K105R|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Missense_Mutation_p.K91R|CRHR2_uc003tbp.2_Missense_Mutation_p.K132R NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 105 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 GCCACTCACCTTGTCATCCAA 0.517 NA 15 47 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31683113 31683113 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:31683113C>T uc003tcj.1 + 11 3122 c.2129C>T c.(2128-2130)ACC>ATC p.T710I CCDC129_uc011kad.1_Missense_Mutation_p.T720I|CCDC129_uc003tci.1_Missense_Mutation_p.T561I|CCDC129_uc011kae.1_Missense_Mutation_p.T736I|CCDC129_uc003tck.1_Missense_Mutation_p.T618I NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 710 0 TCTGTAATGACCCAGATGTCC 0.522 NA 25 45 0 0 0 0 PDE1C 5137 broad.mit.edu 37 7 32209472 32209472 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:32209472C>A uc003tco.1 - 3 827 c.233G>T c.(232-234)CGA>CTA p.R78L NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C Error:Variant_position_missing_in_Q14123_after_alignment activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CTCTGGGGGTCGAGGGTCATG 0.507 NA 29 64 1.05e-18 1.44e-18 1 0 NPSR1 387129 broad.mit.edu 37 7 34889223 34889223 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:34889223G>A uc003teg.1 + 9 1200 c.1072G>A c.(1072-1074)GAG>AAG p.E358K AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.*391*|NPSR1_uc010kwt.1_Missense_Mutation_p.E205K|NPSR1_uc010kwu.1_Missense_Mutation_p.E148K|NPSR1_uc010kwv.1_Missense_Mutation_p.E292K|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 358 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) GGAGAGAACTGAGAGGCATGA 0.488 NA 40 80 0 0 0 0 TXNDC3 51314 broad.mit.edu 37 7 37903952 37903952 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:37903952G>A uc003tfn.2 + 9 829 c.457G>A c.(457-459)GAA>AAA p.E153K NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 153 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TTTTCCAGAGGAATTATACAG 0.284 NA Kartagener_syndrome 12 24 0 0 0 0 ADCY1 107 broad.mit.edu 37 7 45697343 45697343 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:45697343C>A uc003tne.3 + 6 1184 c.1166C>A c.(1165-1167)ACC>AAC p.T389N ADCY1_uc003tnd.2_Missense_Mutation_p.T164N NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 389 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCTGAAGCCACCGAGGTGGAT 0.607 NA 5 15 1.24e-05 1.4e-05 1 0 TNS3 64759 broad.mit.edu 37 7 47333420 47333420 + Missense_Mutation SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:47333420T>C uc003tnv.2 - 25 4050 c.3683A>G c.(3682-3684)GAT>GGT p.D1228G TNS3_uc003tnw.2_Missense_Mutation_p.D1228G NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 1228 SH2. focal adhesion protein binding ovary(4) 4 ATTGGCCAAATCTCCAGCTGT 0.438 NA 28 50 0 0 0 0 TNS3 64759 broad.mit.edu 37 7 47408232 47408232 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:47408232C>T uc003tnv.2 - 17 2378 c.2011G>A c.(2011-2013)GGA>AGA p.G671R TNS3_uc003tnw.2_Missense_Mutation_p.G671R NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 671 focal adhesion protein binding ovary(4) 4 ACCTGGTCTCCTGGAAACCTG 0.632 NA 60 113 0 0 0 0 PKD1L1 168507 broad.mit.edu 37 7 47894539 47894539 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:47894539C>G uc003tny.1 - 30 4800 c.4800G>C c.(4798-4800)CAG>CAC p.Q1600H NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1600 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CAATTTCTATCTGTAGAGATT 0.398 NA 31 63 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48285513 48285513 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:48285513C>A uc003toq.2 + 13 1570 c.1545C>A c.(1543-1545)GTC>GTA p.V515V ABCA13_uc010kyr.2_Silent_p.V18V NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 515 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AGAAGGAGGTCTTTTTGCCGC 0.448 NA 15 37 6.72e-11 8.57e-11 1 0 ABCA13 154664 broad.mit.edu 37 7 48318403 48318403 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:48318403A>T uc003toq.2 + 18 7637 c.7612A>T c.(7612-7614)ACA>TCA p.T2538S ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2538 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GAAGATGTCCACAGTTTTTAA 0.393 NA 55 134 0 0 0 0 ZPBP 11055 broad.mit.edu 37 7 50129302 50129302 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:50129302C>G uc003tou.2 - 2 201 c.131G>C c.(130-132)GGA>GCA p.G44A ZPBP_uc010kyw.2_Missense_Mutation_p.G44A NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 44 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) AACCAAGTGTCCAACTATCAA 0.318 NA 16 22 0 0 0 0 GTF2I 2969 broad.mit.edu 37 7 74113421 74113421 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:74113421C>G uc003uau.2 + 4 739 c.369C>G c.(367-369)TGC>TGG p.C123W GTF2I_uc003uat.2_Missense_Mutation_p.C123W|GTF2I_uc003uav.2_Missense_Mutation_p.C123W|GTF2I_uc003uaw.2_Missense_Mutation_p.C123W|GTF2I_uc003uay.2_Missense_Mutation_p.C123W|GTF2I_uc003uax.2_Missense_Mutation_p.C123W NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 123 GTF2I-like 1. negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TCTGCTTTTGCTATGGTAAAA 0.294 NA 7 23 0 0 0 0 PHTF2 57157 broad.mit.edu 37 7 77569410 77569410 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:77569410G>A uc003ugs.3 + 13 1657 c.1531G>A c.(1531-1533)GGT>AGT p.G511S PHTF2_uc003ugp.2_Missense_Mutation_p.G473S|PHTF2_uc003ugq.3_Missense_Mutation_p.G473S|PHTF2_uc010ldv.2_Missense_Mutation_p.G473S|PHTF2_uc003ugt.3_Missense_Mutation_p.G477S|PHTF2_uc003ugu.3_Missense_Mutation_p.G473S|PHTF2_uc010ldw.1_Missense_Mutation_p.G293S NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 TCTCATACTGGGTTTAACTCC 0.408 NA 21 59 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82538271 82538271 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:82538271C>A uc003uhx.2 - 8 13648 c.13359G>T c.(13357-13359)TTG>TTT p.L4453F PCLO_uc003uhv.2_Missense_Mutation_p.L4453F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4384 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTCCATTTTCCAAACGAGACT 0.443 NA 22 58 2.38e-13 3.13e-13 1 0 CDK14 5218 broad.mit.edu 37 7 90419960 90419960 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:90419960C>T uc003uky.2 + 5 759 c.537C>T c.(535-537)ATC>ATT p.I179I CDK14_uc003ukt.1_Silent_p.I133I|CDK14_uc003ukv.1_Silent_p.I133I|CDK14_uc003uku.1_Silent_p.I133I|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Silent_p.I161I|CDK14_uc010les.1_Silent_p.I133I|CDK14_uc011khl.1_Silent_p.I50I NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 179 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 TCACAGCTATCAGGGAAGGTA 0.403 NA 15 32 0 0 0 0 CASD1 64921 broad.mit.edu 37 7 94183816 94183816 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:94183816A>G uc003uni.3 + 17 2283 c.2056A>G c.(2056-2058)AGA>GGA p.R686G CASD1_uc003unj.3_Missense_Mutation_p.R686G NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 686 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CATCCTAATAAGAAACATCCC 0.274 NA 24 59 0 0 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94740690 94740690 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:94740690G>T uc003unp.2 + 3 1797 c.1515G>T c.(1513-1515)GTG>GTT p.V505V PPP1R9A_uc010lfj.2_Silent_p.V505V|PPP1R9A_uc011kif.1_Silent_p.V505V|PPP1R9A_uc003unq.2_Silent_p.V505V|PPP1R9A_uc011kig.1_Silent_p.V505V NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 505 PDZ. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TTTTCCCAGTGGAGCTAGAGA 0.373 NA HNSCC(28;0.073) 23 46 2.32e-17 3.19e-17 1 0 PUS7 54517 broad.mit.edu 37 7 105111200 105111200 + Nonsense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:105111200C>A uc003vcx.2 - 11 1552 c.1333G>T c.(1333-1335)GAA>TAA p.E445* PUS7_uc010lji.2_Nonsense_Mutation_p.E451*|PUS7_uc003vcy.2_Nonsense_Mutation_p.E445*|PUS7_uc003vcz.1_Nonsense_Mutation_p.E445* NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 445 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 AGCTGCCCTTCCACACACCTT 0.453 NA 56 89 2.17e-26 3.11e-26 1 0 CFTR 1080 broad.mit.edu 37 7 117267811 117267811 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:117267811G>T uc003vjd.2 + 22 3836 c.3704G>T c.(3703-3705)AGT>ATT p.S1235I CFTR_uc011knq.1_Missense_Mutation_p.S641I NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 1235 Cytoplasmic (Potential).|ABC transporter 2. S -> R (in CF). 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) TTCTCAATAAGTCCTGGCCAG 0.438 NA Cystic_Fibrosis 11 43 0.00136819 0.00146491 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432538 117432538 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:117432538G>T uc003vjf.2 - 4 804 c.712C>A c.(712-714)CGG>AGG p.R238R NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 238 Potential. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGCTGTTCCCGCTCAGTGTCA 0.453 NA 13 39 2.27e-07 2.69e-07 1 0 KCND2 3751 broad.mit.edu 37 7 119915355 119915355 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:119915355G>T uc003vjj.1 + 1 1634 c.669G>T c.(667-669)GAG>GAT p.E223D NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 223 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CCTGTGGAGAGCGGTATGCTG 0.542 NA 27 39 7.42e-09 9.08e-09 1 0 EXOC4 60412 broad.mit.edu 37 7 133502223 133502223 + Missense_Mutation SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:133502223A>G uc003vrk.2 + 11 1695 c.1660A>G c.(1660-1662)ACA>GCA p.T554A EXOC4_uc011kpo.1_Missense_Mutation_p.T453A|EXOC4_uc003vrl.2_Missense_Mutation_p.T164A|EXOC4_uc011kpp.1_Missense_Mutation_p.T86A NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 554 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) AGTCACTAAAACATCTGACCC 0.443 NA 18 23 0 0 0 0 DENND2A 27147 broad.mit.edu 37 7 140301270 140301270 + Missense_Mutation SNP A A C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:140301270A>C uc010lnj.2 - 1 1073 c.928T>G c.(928-930)TCT>GCT p.S310A DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S310A|DENND2A_uc003vvw.2_Missense_Mutation_p.S310A|DENND2A_uc003vvx.2_Missense_Mutation_p.S310A NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 310 p.S310A(1) ovary(3)|breast(1) 4 Melanoma(164;0.00956) ggtgggggagaggagggcaga 0.403 NA 14 37 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141727480 141727480 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:141727480C>T uc003vwy.2 + 10 1220 c.1166C>T c.(1165-1167)ACC>ATC p.T389I NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 389 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAATATGGAACCTTAGACAAC 0.463 NA 12 28 0 0 0 0 OR9A2 135924 broad.mit.edu 37 7 142723861 142723861 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:142723861A>T uc003wcc.1 - 1 359 c.359T>A c.(358-360)GTG>GAG p.V120E NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 120 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) ACACACAGCCACATAACGGTC 0.438 NA 28 57 0 0 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141256 143141256 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:143141256C>A uc011ktg.1 + 1 711 c.711C>A c.(709-711)CCC>CCA p.P237P uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 237 Helical; Name=6; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TCCGAGAGCCCAGTGTGCAGG 0.483 NA 38 69 2.1e-21 2.93e-21 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146741075 146741075 + Missense_Mutation SNP G G C rs138738227 by1000genomes TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:146741075G>C uc003weu.1 + 4 995 c.479G>C c.(478-480)CGC>CCC p.R160P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 160 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGCTATGTGCGCATAGTGCCT 0.433 NA HNSCC(39;0.1) 27 79 0 0 0 0 KCNH2 3757 broad.mit.edu 37 7 150644574 150644574 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:150644574G>A uc003wic.2 - 13 3007 c.2994C>T c.(2992-2994)TTC>TTT p.F998F KCNH2_uc003wib.2_Silent_p.F658F|KCNH2_uc011kux.1_Silent_p.F902F NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 998 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCCAGAAGCTGAAAATGTTGG 0.692 NA 5 11 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154684051 154684051 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:154684051C>G uc003wlk.2 + 26 2588 c.2459C>G c.(2458-2460)CCG>CGG p.P820R DPP6_uc003wli.2_Missense_Mutation_p.P756R|DPP6_uc003wlm.2_Missense_Mutation_p.P758R|DPP6_uc011kvq.1_Missense_Mutation_p.P713R NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 820 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CAGATTTACCCGGACGAAAGC 0.517 NA 30 48 0 0 0 0 EN2 2020 broad.mit.edu 37 7 155255140 155255140 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:155255140G>T uc003wmb.2 + 2 1009 c.760G>T c.(760-762)GAG>TAG p.E254* NM_001427 NP_001418 P19622 HME2_HUMAN engrailed homeobox 2 254 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTTACCGCCGAGCAGCTGCA 0.607 NA 26 85 5.45e-15 7.32e-15 1 0 WDR60 55112 broad.mit.edu 37 7 158718989 158718989 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr7:158718989A>T uc003woe.3 + 18 2527 c.2369A>T c.(2368-2370)GAA>GTA p.E790V WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.E422V NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 790 WD 2. ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TCTACTCAAGAAGGTACGTGA 0.388 NA 6 12 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2820916 2820916 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:2820916G>T uc011kwk.1 - 60 9675 c.9285C>A c.(9283-9285)GCC>GCA p.A3095A CSMD1_uc011kwj.1_Silent_p.A2424A|CSMD1_uc010lrg.2_Silent_p.A986A NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3095 Extracellular (Potential).|Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GACACAGCACGGCTATTTCCA 0.498 NA 51 101 6.57e-35 9.57e-35 1 0 SOX7 83595 broad.mit.edu 37 8 10583781 10583781 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:10583781C>A uc003wtf.2 - 2 713 c.634G>T c.(634-636)GTG>TTG p.V212L SOX7_uc011kwz.1_Missense_Mutation_p.V264L NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 212 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GGCTCCAGCACGTCCAGGGGA 0.701 NA 17 25 7.08e-05 7.82e-05 1 0 DLC1 10395 broad.mit.edu 37 8 12957730 12957730 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:12957730C>T uc003wwm.2 - 9 2560 c.2116G>A c.(2116-2118)GAG>AAG p.E706K DLC1_uc003wwk.1_Missense_Mutation_p.E269K|DLC1_uc003wwl.1_Missense_Mutation_p.E303K|DLC1_uc011kxx.1_Missense_Mutation_p.E195K NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 706 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TTCAGCTTCTCCTCATCCATC 0.567 NA 21 33 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35406851 35406851 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:35406851G>C uc003xjr.1 + 2 473 c.145G>C c.(145-147)GCT>CCT p.A49P UNC5D_uc003xjs.1_Missense_Mutation_p.A44P NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 49 Extracellular (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CATCCCATCAGCTCCTGGGAC 0.483 NA 13 40 0 0 0 0 KCNU1 157855 broad.mit.edu 37 8 36776389 36776389 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:36776389G>A uc010lvw.2 + 23 2657 c.2570G>A c.(2569-2571)CGA>CAA p.R857Q KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 857 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCAAACTGCCGAAAAGTCCCT 0.358 NA 17 84 0 0 0 0 DDHD2 23259 broad.mit.edu 37 8 38095108 38095108 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:38095108C>G uc003xlb.2 + 4 841 c.464C>G c.(463-465)TCT>TGT p.S155C DDHD2_uc003xla.2_Missense_Mutation_p.S155C|DDHD2_uc003xlc.2_Missense_Mutation_p.S155C|DDHD2_uc011lbl.1_Missense_Mutation_p.I7M NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 155 lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) AAACTGGAATCTCCCAACAGA 0.328 NA 7 14 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52287228 52287228 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:52287228A>G uc003xqu.3 - 18 3722 c.3621T>C c.(3619-3621)CCT>CCC p.P1207P PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1207 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTCTTGTACCAGGAATCAGGT 0.483 NA 12 39 0 0 0 0 EYA1 2138 broad.mit.edu 37 8 72182001 72182001 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72182001C>A uc003xys.3 - 10 1311 c.1024G>T c.(1024-1026)GGG>TGG p.G342W EYA1_uc003xyr.3_Missense_Mutation_p.G337W|EYA1_uc003xyt.3_Missense_Mutation_p.G309W|EYA1_uc010lzf.2_Missense_Mutation_p.G269W|EYA1_uc003xyu.2_Missense_Mutation_p.G342W|EYA1_uc011lfe.1_Missense_Mutation_p.G336W|EYA1_uc003xyv.2_Missense_Mutation_p.G220W NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 342 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCGTAGGACCCAGTAAGCAAG 0.398 NA 33 91 6.29e-14 8.36e-14 1 0 EYA1 2138 broad.mit.edu 37 8 72229917 72229917 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72229917C>G uc003xys.3 - 6 713 c.426G>C c.(424-426)TTG>TTC p.L142F EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.L109F|EYA1_uc010lzf.2_Missense_Mutation_p.L69F|EYA1_uc003xyu.2_Missense_Mutation_p.L142F|EYA1_uc011lfe.1_Intron|EYA1_uc003xyv.2_Intron NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 142 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGCCTGCCCACAATGCACCTA 0.423 NA 37 96 0 0 0 0 MSC 9242 broad.mit.edu 37 8 72756070 72756070 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72756070C>T uc003xyx.1 - 1 662 c.344G>A c.(343-345)CGT>CAT p.R115H uc011lff.1_Intron|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 115 Basic motif. transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GGCACGCTCACGGGCGTTGGC 0.692 NA OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 0 0 0 0 TRPA1 8989 broad.mit.edu 37 8 72951141 72951141 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:72951141T>A uc003xza.2 - 19 2429 c.2254A>T c.(2254-2256)ATC>TTC p.I752F uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 752 Extracellular (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GTTTCATTGATGATGCCAGTT 0.299 NA 26 46 0 0 0 0 TPD52 7163 broad.mit.edu 37 8 80976829 80976829 + Splice_Site SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:80976829C>A uc003ybr.1 - 2 462 c.140_splice c.e2-1 p.G47_splice TPD52_uc010lzr.2_Splice_Site|TPD52_uc010lzs.1_Splice_Site|TPD52_uc003ybs.1_Splice_Site_p.G7_splice|TPD52_uc003ybt.1_Splice_Site_p.G7_splice|TPD52_uc003ybq.1_Splice_Site|TPD52_uc003ybu.1_Splice_Site NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) CTCAGCAGACCTGGTTGGGGA 0.463 NA 40 81 8.69e-16 1.18e-15 1 0 VPS13B 157680 broad.mit.edu 37 8 100523713 100523713 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:100523713A>T uc003yiv.2 + 29 4792 c.4681A>T c.(4681-4683)ACA>TCA p.T1561S VPS13B_uc003yiw.2_Missense_Mutation_p.T1536S|VPS13B_uc003yix.1_Missense_Mutation_p.T1031S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1561 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TATTCCAAAAACAGAAGAAAT 0.343 NA 13 25 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 104898351 104898351 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:104898351C>T uc003yls.2 + 2 1099 c.858C>T c.(856-858)CGC>CGT p.R286R RIMS2_uc003ylp.2_Silent_p.R508R|RIMS2_uc003ylw.2_Silent_p.R316R|RIMS2_uc003ylq.2_Silent_p.R316R|RIMS2_uc003ylr.2_Silent_p.R316R NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 539 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTAAAATGCGCCAGATTTCGT 0.423 NA HNSCC(12;0.0054) 13 24 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 104922385 104922385 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:104922385G>C uc003yls.2 + 3 1223 c.982G>C c.(982-984)GAT>CAT p.D328H RIMS2_uc003ylp.2_Missense_Mutation_p.D550H|RIMS2_uc003ylw.2_Missense_Mutation_p.D358H|RIMS2_uc003ylq.2_Missense_Mutation_p.D358H|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAACTGGTTGGATCATACGTC 0.393 NA HNSCC(12;0.0054) 32 91 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110455181 110455181 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:110455181T>A uc003yne.2 + 36 4504 c.4400T>A c.(4399-4401)TTT>TAT p.F1467Y NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1467 Extracellular (Potential).|IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCAGGTTCATTTTCTTACCAA 0.318 NA HNSCC(38;0.096) 21 36 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113267587 113267587 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:113267587G>T uc003ynu.2 - 62 10091 c.9932C>A c.(9931-9933)TCA>TAA p.S3311* CSMD3_uc003yns.2_Nonsense_Mutation_p.S2513*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S3271*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S3142* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3311 Extracellular (Potential).|Sushi 26. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGAAACCTCTGACTGGTATAT 0.418 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 50 1.43e-11 1.84e-11 1 0 CSMD3 114788 broad.mit.edu 37 8 113668416 113668416 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:113668416G>T uc003ynu.2 - 18 3130 c.2971C>A c.(2971-2973)CGT>AGT p.R991S CSMD3_uc003yns.2_Missense_Mutation_p.R263S|CSMD3_uc003ynt.2_Missense_Mutation_p.R951S|CSMD3_uc011lhx.1_Missense_Mutation_p.R887S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 991 Extracellular (Potential).|CUB 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTATTGGAACGACTGTTGTCT 0.328 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 70 4.78e-09 5.87e-09 1 0 C8orf85 441376 broad.mit.edu 37 8 117954796 117954796 + Splice_Site SNP G G A rs77850379 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:117954796G>A uc003yof.2 + 2 344 c.325_splice c.e2-1 p.V109_splice NM_001025357 NP_001020528 Q4LEZ3 AARD_HUMAN alanine and arginine-rich domain-containing 0 CTAACTTTTAGGTGGAAATGC 0.343 NA 8 16 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 124978246 124978246 + Splice_Site SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:124978246G>A uc003yqw.2 + 4 404 c.198_splice c.e4-1 p.R66_splice NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTTTTAATAGATCAAAACTG 0.358 NA 6 21 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133175730 133175730 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:133175730A>T uc003ytj.2 - 9 1472 c.1247T>A c.(1246-1248)CTG>CAG p.L416Q KCNQ3_uc010mdt.2_Missense_Mutation_p.L416Q NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 416 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGCTGCCTCCAGCTGTTCTTT 0.443 NA 22 48 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139263091 139263091 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:139263091A>G uc003yuy.2 - 6 706 c.535T>C c.(535-537)TTG>CTG p.L179L FAM135B_uc003yux.2_Silent_p.L80L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 179 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACCTGATCAATGGCTGCTGC 0.562 NA HNSCC(54;0.14) 30 50 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139833498 139833498 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:139833498C>A uc003yvd.2 - 7 1573 c.1126G>T c.(1126-1128)GTC>TTC p.V376F NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 376 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGCAGGGAGACGTTCTGGGCC 0.562 NA HNSCC(7;0.00092) 21 45 4.97e-08 5.97e-08 1 0 KIAA1539 80256 broad.mit.edu 37 9 35107838 35107838 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:35107838C>T uc003zwl.2 - 3 759 c.434G>A c.(433-435)TGC>TAC p.C145Y KIAA1539_uc003zwm.2_Missense_Mutation_p.C145Y|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.C145Y|KIAA1539_uc003zwp.1_Missense_Mutation_p.C145Y|KIAA1539_uc010mkk.1_Intron NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 145 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGATGGGGGGCAGGGGGGACT 0.627 NA 31 57 0 0 0 0 RUSC2 9853 broad.mit.edu 37 9 35556330 35556330 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:35556330G>A uc003zww.2 + 5 3123 c.2868G>A c.(2866-2868)CTG>CTA p.L956L RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.L956L NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 956 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CGTTACCACTGACCTGCCCTG 0.542 NA 27 48 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625328 43625328 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:43625328C>A uc011lrb.1 - 4 3388 c.3359G>T c.(3358-3360)AGG>ATG p.R1120M NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1120 integral to membrane 0 TCCTTCAAGCCTTTCTTCATG 0.473 NA 50 106 2.92e-43 4.28e-43 1 0 C9orf79 286234 broad.mit.edu 37 9 90502039 90502039 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:90502039C>T uc004app.3 + 4 2672 c.2637C>T c.(2635-2637)GCC>GCT p.A879A C9orf79_uc004apo.1_Silent_p.A691A NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 879 integral to membrane ovary(3) 3 CCCCCTGGGCCTCCTGGGTAT 0.557 NA 15 21 0 0 0 0 FAM22G 441457 broad.mit.edu 37 9 99694506 99694506 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:99694506G>A uc004awq.1 + 2 1234 c.519G>A c.(517-519)GGG>GGA p.G173G NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 173 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) TGTCCCCAGGGAACGCTGGGC 0.682 NA 26 126 0 0 0 0 COL15A1 1306 broad.mit.edu 37 9 101778282 101778282 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:101778282G>T uc004azb.1 + 11 1734 c.1528G>T c.(1528-1530)GCA>TCA p.A510S NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 510 Nonhelical region 1 (NC1).|4.|4 X tandem repeats. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AGAAGACTTGGCAGCAGCCAC 0.597 NA 9 21 4.69e-08 5.65e-08 1 0 TMEFF1 8577 broad.mit.edu 37 9 103204596 103204596 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:103204596C>A uc004bay.1 + 1 409 c.376C>A c.(376-378)CCG>ACG p.P126T C9orf30_uc004baw.2_Missense_Mutation_p.P126T|C9orf30_uc004bax.2_RNA NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two Error:Variant_position_missing_in_Q8IYR6_after_alignment multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) GCAGAGCCCCCCGGAGGAGGA 0.587 NA 15 36 5.01e-05 5.57e-05 1 0 ZNF462 58499 broad.mit.edu 37 9 109691071 109691071 + Silent SNP A A G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:109691071A>G uc004bcz.2 + 3 5167 c.4878A>G c.(4876-4878)GAA>GAG p.E1626E ZNF462_uc010mto.2_Silent_p.E1474E|ZNF462_uc004bda.2_Silent_p.E1474E NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1626 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TGACCACTGAAGTGAGCCCTT 0.557 NA 23 62 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898559 112898559 + Silent SNP T T G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:112898559T>G uc004bei.2 + 9 1623 c.1431T>G c.(1429-1431)CCT>CCG p.P477P PALM2-AKAP2_uc004bek.3_Silent_p.P245P|PALM2-AKAP2_uc004bej.3_Silent_p.P245P|PALM2-AKAP2_uc004bel.1_Silent_p.P55P|AKAP2_uc011lwi.1_Silent_p.P103P|AKAP2_uc004bem.2_Silent_p.P103P|PALM2-AKAP2_uc010mtw.1_Silent_p.P63P|AKAP2_uc011lwj.1_Silent_p.P14P|PALM2-AKAP2_uc004ben.2_Silent_p.P14P NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 14 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AAAGTGTTCCTGGAATCACCT 0.502 NA 31 88 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899252 112899252 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:112899252G>T uc004bei.2 + 9 2316 c.2124G>T c.(2122-2124)CCG>CCT p.P708P PALM2-AKAP2_uc004bek.3_Silent_p.P476P|PALM2-AKAP2_uc004bej.3_Silent_p.P476P|PALM2-AKAP2_uc004bel.1_Silent_p.P286P|AKAP2_uc011lwi.1_Silent_p.P334P|AKAP2_uc004bem.2_Silent_p.P334P|PALM2-AKAP2_uc010mtw.1_Silent_p.P294P|AKAP2_uc011lwj.1_Silent_p.P245P|PALM2-AKAP2_uc004ben.2_Silent_p.P245P NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 245 Potential. enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 GGAATCCCCCGCAGGAAAAAA 0.498 NA 18 42 5.39e-06 6.14e-06 1 0 ASTN2 23245 broad.mit.edu 37 9 119202971 119202971 + Silent SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:119202971C>A uc004bjs.1 - 22 3800 c.3699G>T c.(3697-3699)CTG>CTT p.L1233L ASTN2_uc004bjr.1_Silent_p.L1229L|ASTN2_uc004bjt.1_Silent_p.L1182L|ASTN2_uc004bjp.1_Silent_p.L326L|ASTN2_uc004bjq.1_Silent_p.L285L|ASTN2_uc011lxr.1_Silent_p.L285L|ASTN2_uc011lxs.1_Silent_p.L285L|ASTN2_uc011lxt.1_Silent_p.L285L|ASTN2_uc004bjo.1_Silent_p.L14L NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1233 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GGACTCGGAACAGCATCGAGG 0.498 NA 28 75 3.74e-20 5.19e-20 1 0 TLR4 7099 broad.mit.edu 37 9 120470943 120470943 + Silent SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:120470943C>T uc004bjz.2 + 2 487 c.196C>T c.(196-198)CTG>TTG p.L66L TLR4_uc004bka.2_Silent_p.L26L|TLR4_uc004bkb.2_Intron NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 66 LRR 1.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CTTTAATCCCCTGAGGCATTT 0.443 NA 52 132 0 0 0 0 OR1L1 26737 broad.mit.edu 37 9 125424532 125424532 + Missense_Mutation SNP G G T rs142065229 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:125424532G>T uc011lza.1 + 1 688 c.688G>T c.(688-690)GAT>TAT p.D230Y NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, 230 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CTTTTTCTGCGATGATCAACC 0.428 NA 59 123 4.96e-28 7.15e-28 1 0 GLRA2 2742 broad.mit.edu 37 X 14627215 14627215 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:14627215G>C uc010nep.2 + 8 1150 c.818G>C c.(817-819)TGG>TCG p.W273S GLRA2_uc010neq.2_Missense_Mutation_p.W273S|GLRA2_uc004cwe.3_Missense_Mutation_p.W273S|GLRA2_uc011mio.1_Missense_Mutation_p.W184S|GLRA2_uc011mip.1_Missense_Mutation_p.W251S NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 273 Helical; (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) ATTTTGTCCTGGGTTTCCTTT 0.473 NA 51 29 0 0 0 0 NHS 4810 broad.mit.edu 37 X 17739579 17739579 + Nonsense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:17739579G>T uc004cxx.2 + 4 1209 c.871G>T c.(871-873)GAA>TAA p.E291* NHS_uc011mix.1_Nonsense_Mutation_p.E312*|NHS_uc004cxy.2_Nonsense_Mutation_p.E135*|NHS_uc004cxz.2_Nonsense_Mutation_p.E114*|NHS_uc004cya.2_Nonsense_Mutation_p.E14* NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 291 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CCCAGAGGATGAAGATACAGA 0.433 NA 25 13 4.6e-10 5.76e-10 1 0 DMD 1756 broad.mit.edu 37 X 32459328 32459328 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:32459328C>G uc004dda.1 - 28 4134 c.3890G>C c.(3889-3891)GGC>GCC p.G1297A DMD_uc004dcz.2_Missense_Mutation_p.G1174A|DMD_uc004dcy.1_Missense_Mutation_p.G1293A|DMD_uc004ddb.1_Missense_Mutation_p.G1289A|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1297 Spectrin 9. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCAGCTCCGCCAGGAATGTT 0.358 NA 31 21 0 0 0 0 FAM47B 170062 broad.mit.edu 37 X 34962223 34962223 + Silent SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:34962223G>T uc004ddi.1 + 1 1293 c.1275G>T c.(1273-1275)CCG>CCT p.P425P NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 425 ovary(3)|breast(1) 4 GTCTCTGCCCGGAGCCTACCA 0.547 NA 31 10 3.8e-20 5.28e-20 1 0 DGKK 139189 broad.mit.edu 37 X 50163498 50163498 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:50163498G>T uc010njr.1 - 4 905 c.845C>A c.(844-846)ACA>AAA p.T282K NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 282 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TCGTTGTGGTGTAATAACCTA 0.388 NA 39 21 2.59e-14 3.46e-14 1 0 TRO 7216 broad.mit.edu 37 X 54957428 54957428 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:54957428G>T uc004dtq.2 + 12 4378 c.4271G>T c.(4270-4272)GGT>GTT p.G1424V TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.G955V|TRO_uc004dtw.2_Missense_Mutation_p.G1027V|TRO_uc004dtx.2_Missense_Mutation_p.G807V NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1424 62; approximate.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GCCAGTCTTGGTGCCTGTGGC 0.567 NA 9 11 1.11e-13 1.47e-13 1 0 FAM123B 139285 broad.mit.edu 37 X 63410293 63410293 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:63410293C>A uc004dvo.2 - 2 3147 c.2874G>T c.(2872-2874)TGG>TGT p.W958C NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 958 Pro-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CCCAAGCAGGCCAATCATAGG 0.577 NA 15 6 4.75e-09 5.85e-09 1 0 BRWD3 254065 broad.mit.edu 37 X 79932626 79932626 + Missense_Mutation SNP T T A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:79932626T>A uc004edt.2 - 41 5154 c.4891A>T c.(4891-4893)ACA>TCA p.T1631S BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.T1227S|BRWD3_uc004edp.2_Missense_Mutation_p.T1460S|BRWD3_uc004edq.2_Missense_Mutation_p.T1227S|BRWD3_uc010nmj.1_Missense_Mutation_p.T1227S|BRWD3_uc004edr.2_Missense_Mutation_p.T1301S|BRWD3_uc004eds.2_Missense_Mutation_p.T1227S|BRWD3_uc004edu.2_Missense_Mutation_p.T1301S|BRWD3_uc004edv.2_Missense_Mutation_p.T1227S|BRWD3_uc004edw.2_Missense_Mutation_p.T1227S|BRWD3_uc004edx.2_Missense_Mutation_p.T1227S|BRWD3_uc004edy.2_Missense_Mutation_p.T1227S|BRWD3_uc004edz.2_Missense_Mutation_p.T1301S|BRWD3_uc004eea.2_Missense_Mutation_p.T1301S|BRWD3_uc004eeb.2_Missense_Mutation_p.T1227S|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1631 ovary(4) 4 TCTTGATCTGTTCTGGAAGTT 0.378 NA 47 36 0 0 0 0 PABPC5 140886 broad.mit.edu 37 X 90690743 90690743 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:90690743G>T uc004efg.2 + 2 607 c.167G>T c.(166-168)CGC>CTC p.R56L PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 56 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CCGGTGACCCGCAGCCCCCTG 0.532 NA 9 5 5.69e-11 7.26e-11 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132611 91132611 + Missense_Mutation SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:91132611G>C uc004efk.1 + 2 2217 c.1372G>C c.(1372-1374)GAT>CAT p.D458H PCDH11X_uc004efl.1_Missense_Mutation_p.D458H|PCDH11X_uc004efo.1_Missense_Mutation_p.D458H|PCDH11X_uc010nmv.1_Missense_Mutation_p.D458H|PCDH11X_uc004efm.1_Missense_Mutation_p.D458H|PCDH11X_uc004efn.1_Missense_Mutation_p.D458H|PCDH11X_uc004efh.1_Missense_Mutation_p.D458H|PCDH11X_uc004efj.1_Missense_Mutation_p.D458H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 458 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAAAGTGAAAGATGAAAATGA 0.403 NA 27 12 0 0 0 0 NXF3 56000 broad.mit.edu 37 X 102332651 102332651 + Missense_Mutation SNP A A T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:102332651A>T uc004eju.2 - 18 1546 c.1475T>A c.(1474-1476)CTC>CAC p.L492H NXF3_uc010noi.1_3'UTR NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 492 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 CCGCACAAAGAGCTTGTCATT 0.572 NA 42 22 0 0 0 0 TEX13A 56157 broad.mit.edu 37 X 104464879 104464879 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:104464879G>A uc004ema.2 - 2 315 c.203C>T c.(202-204)ACC>ATC p.T68I IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.T68I NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 68 intracellular zinc ion binding ovary(2) 2 GCTGCCCCAGGTGCAGGCCTC 0.582 NA 16 11 0 0 0 0 NRK 203447 broad.mit.edu 37 X 105132386 105132386 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:105132386C>A uc004emd.2 + 5 655 c.352C>A c.(352-354)CCC>ACC p.P118T NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 118 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CAAGCTGAGTCCCCCTGGTCA 0.398 NA HNSCC(51;0.14) 5 2 5.94e-07 6.97e-07 1 0 BCORL1 63035 broad.mit.edu 37 X 129184758 129184758 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:129184758G>T uc004evb.1 + 11 4799 c.4685G>T c.(4684-4686)AGT>ATT p.S1562I BCORL1_uc004evc.1_Missense_Mutation_p.S398I NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1562 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TTTTACAGCAGTTCTGTGTTG 0.502 NA 61 39 8.34e-18 1.15e-17 1 0 GPR101 83550 broad.mit.edu 37 X 136112905 136112905 + Missense_Mutation SNP C C T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:136112905C>T uc011mwh.1 - 1 929 c.929G>A c.(928-930)AGC>AAC p.S310N NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 310 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GGCCACCGTGCTGCTCTCTCT 0.602 NA 72 51 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993368 140993368 + Missense_Mutation SNP G G T TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:140993368G>T uc004fbt.2 + 4 464 c.178G>T c.(178-180)GGG>TGG p.G60W MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 60 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCGTTCTGAGGGGGAGGACTC 0.602 NA HNSCC(15;0.026) 42 31 4.67e-22 6.56e-22 1 0 PLXNA3 55558 broad.mit.edu 37 X 153689091 153689091 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:153689091G>A uc004flm.2 + 2 741 c.568G>A c.(568-570)GAA>AAA p.E190K NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 190 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATCAGTGATGAAGACAGCGC 0.597 NA 29 18 0 0 0 0 PLXNA3 55558 broad.mit.edu 37 X 153693211 153693211 + Silent SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:153693211G>A uc004flm.2 + 10 2216 c.2043G>A c.(2041-2043)GAG>GAA p.E681E NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 681 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACAGCCCTGAGGTGAGGCGGG 0.662 NA 3 2 0 0 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959383 10959383 + Frame_Shift_Del DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:10959383delC uc010shh.1 - 1 197 c.197delG c.(196-198)GGCfs p.G66fs NM_023918 NP_076407 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 66 Helical; Name=2; (Potential). sensory perception of taste integral to membrane taste receptor activity ovary(2) 2 TATTACAATGCCATTTACAAC 0.318 NA 31 72 --- --- --- --- NA NA NA NA PKP2 5318 broad.mit.edu 37 12 32975546 32975547 + Frame_Shift_Del DEL CA CA - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr12:32975546_32975547delCA uc001rlj.3 - 9 1940_1941 c.1825_1826delTG c.(1825-1827)TGCfs p.C609fs PKP2_uc001rlk.3_Frame_Shift_Del_p.C565fs|PKP2_uc010skj.1_Frame_Shift_Del_p.C565fs NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 609 ARM 4. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ATGAAGAATGCACACACAATTC 0.426 NA 22 58 --- --- --- --- NA NA NA NA UNC45B 146862 broad.mit.edu 37 17 33497240 33497241 + Frame_Shift_Ins INS - - C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr17:33497240_33497241insC uc002hja.2 + 12 1752_1753 c.1655_1656insC c.(1654-1656)GTCfs p.V552fs UNC45B_uc002hjb.2_Frame_Shift_Ins_p.V552fs|UNC45B_uc002hjc.2_Frame_Shift_Ins_p.V552fs|UNC45B_uc010cto.2_Intron NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 552 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GTCCAGGACGTCCCTGCCCTGC 0.619 NA 15 30 --- --- --- --- NA NA NA NA FLRT3 23767 broad.mit.edu 37 20 14306693 14306694 + Frame_Shift_Ins INS - - T rs144984452 TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr20:14306693_14306694insT uc002wov.1 - 3 1926_1927 c.1459_1460insA c.(1459-1461)CTCfs p.L487fs MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Frame_Shift_Ins_p.L487fs NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 487 Extracellular (Potential).|Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AAATAGGTAGAGGTTGCTGGTT 0.455 NA 26 89 --- --- --- --- NA NA NA NA PCNT 5116 broad.mit.edu 37 21 47821563 47821563 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr21:47821563delG uc002zji.3 + 26 4997 c.4890delG c.(4888-4890)TCGfs p.S1630fs PCNT_uc002zjj.2_Frame_Shift_Del_p.S1512fs NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1630 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AGCCTCCTTCGGGCAGCCCTC 0.562 NA 39 70 --- --- --- --- NA NA NA NA OR11H1 81061 broad.mit.edu 37 22 16449523 16449523 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr22:16449523delG uc011agd.1 - 1 282 c.282delC c.(280-282)CCCfs p.P94fs NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) CCAACATCTTGGGAACTGTAG 0.408 NA 8 57 --- --- --- --- NA NA NA NA ROBO2 6092 broad.mit.edu 37 3 77651571 77651571 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:77651571delG uc003dpy.3 + 20 3708 c.3065delG c.(3064-3066)AGCfs p.S1022fs ROBO2_uc003dpz.2_Frame_Shift_Del_p.S1026fs|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Frame_Shift_Del_p.S1026fs|ROBO2_uc003dqa.2_Frame_Shift_Del_p.S149fs NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1022 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAATGGAAAAGCTCAATTCAG 0.443 NA 23 17 --- --- --- --- NA NA NA NA SLCO2A1 6578 broad.mit.edu 37 3 133657272 133657272 + Splice_Site DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:133657272delC uc003eqa.3 - 12 1964 c.1690_splice c.e12+1 p.A564_splice SLCO2A1_uc003eqb.3_Splice_Site_p.A488_splice NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 TAGACACTTACCCAGCAAGCG 0.537 NA 103 66 --- --- --- --- NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs150114751 byFrequency TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 NA 7 167 --- --- --- --- NA NA NA NA CCDC39 339829 broad.mit.edu 37 3 180372672 180372672 + Frame_Shift_Del DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr3:180372672delC uc010hxe.2 - 7 923 c.808delG c.(808-810)GAAfs p.E270fs CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 270 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATCTCACTTTCCAAAAACTTG 0.318 NA 59 22 --- --- --- --- NA NA NA NA CDC20B 166979 broad.mit.edu 37 5 54442506 54442509 + Frame_Shift_Del DEL GCTT GCTT - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:54442506_54442509delGCTT uc003jpo.1 - 3 477_480 c.302_305delAAGC c.(301-306)GAAGCTfs p.E101fs CDC20B_uc003jpn.1_Frame_Shift_Del_p.E101fs|CDC20B_uc010ivu.1_Frame_Shift_Del_p.E101fs|CDC20B_uc010ivv.1_Frame_Shift_Del_p.E101fs|CDC20B_uc003jpp.2_RNA NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 101_102 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TGATCCGGAAGCTTCTGGGAGGTA 0.529 NA OREG0016610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 60 --- --- --- --- NA NA NA NA PCDHB3 56132 broad.mit.edu 37 5 140480891 140480891 + Frame_Shift_Del DEL C C - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr5:140480891delC uc003lio.2 + 1 658 c.658delC c.(658-660)CCCfs p.P220fs uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 220 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCGGCTCTCCCCCTCGGTC 0.552 NA 44 30 --- --- --- --- NA NA NA NA CSMD1 64478 broad.mit.edu 37 8 2820892 2820894 + In_Frame_Del DEL CGG CGG - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:2820892_2820894delCGG uc011kwk.1 - 60 9697_9699 c.9307_9309delCCG c.(9307-9309)CCGdel p.P3103del CSMD1_uc011kwj.1_In_Frame_Del_p.P2432del|CSMD1_uc010lrg.2_In_Frame_Del_p.P994del NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3103 Sushi 25.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATTCTGCACCGGCGGCGGCTGA 0.537 NA 39 177 --- --- --- --- NA NA NA NA INTS10 55174 broad.mit.edu 37 8 19681415 19681415 + Frame_Shift_Del DEL T T - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:19681415delT uc003wzj.2 + 7 827 c.696delT c.(694-696)CCTfs p.P232fs NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 232 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TAATGTCACCTAGCAAACGTA 0.403 NA 29 53 --- --- --- --- NA NA NA NA RP1 6101 broad.mit.edu 37 8 55533949 55533950 + Frame_Shift_Ins INS - - G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr8:55533949_55533950insG uc003xsd.1 + 2 571_572 c.423_424insG c.(421-426)CCCGTAfs p.P141fs RP1_uc011ldy.1_Frame_Shift_Ins_p.P141fs NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 141_142 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CGCCCCACCCCGTAGCCGTCGC 0.698 NA 25 64 --- --- --- --- NA NA NA NA ADAMTS13 11093 broad.mit.edu 37 9 136302011 136302011 + Frame_Shift_Del DEL G G - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chr9:136302011delG uc004cdv.3 + 12 1815 c.1371delG c.(1369-1371)CCGfs p.P457fs ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Frame_Shift_Del_p.P457fs|ADAMTS13_uc004cdu.1_Frame_Shift_Del_p.P426fs|ADAMTS13_uc004cdw.3_Frame_Shift_Del_p.P457fs|ADAMTS13_uc004cdx.3_Frame_Shift_Del_p.P426fs|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Frame_Shift_Del_p.P127fs|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 457 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACGGCCAGCCGCTGCGCTCCT 0.697 NA 5 7 --- --- --- --- NA NA NA NA KIAA2022 340533 broad.mit.edu 37 X 73962264 73962265 + Frame_Shift_Ins INS - - A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b78a2501-f312-41a2-ab19-7c18d8dfbac6 2db34c9d-a6f8-4a60-97c4-cf139a9415bb g.chrX:73962264_73962265insA uc004eby.2 - 3 2744_2745 c.2127_2128insT c.(2125-2130)TTTAAGfs p.F709fs NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 709_710 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TCTGGCCCCTTAAACTCTGTGT 0.431 NA 39 26 --- --- --- --- NA NA NA NA