Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NOC2L 26155 broad.mit.edu 37 1 880905 880905 + Silent SNP C C A rs149040522 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:880905C>A uc001abz.3 - 17 2105 c.2046G>T c.(2044-2046)TCG>TCT p.S682S NOC2L_uc001aby.3_Silent_p.S479S|NOC2L_uc009vjq.2_Silent_p.S682S NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 682 Asp/Glu-rich (acidic). nucleolus protein binding ovary(1)|skin(1) 2 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;8.75e-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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CACCTCTCTCCGAGAATCCCT 0.592 NA 30 36 2.65835e-16 4.39616e-16 0.007291 1 0 NOC2L 26155 broad.mit.edu 37 1 889421 889421 + Missense_Mutation SNP C C A rs3828050 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:889421C>A uc001abz.3 - 7 799 c.740G>T c.(739-741)CGT>CTT p.R247L NOC2L_uc001aby.3_Missense_Mutation_p.R44L|NOC2L_uc009vjq.2_Missense_Mutation_p.R247L NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 247 nucleolus protein binding ovary(1)|skin(1) 2 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;8.75e-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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GATGTCCACACGAAGCTTCCC 0.647 NA 25 51 7.33532e-06 8.68679e-06 0.003954 1 0 Unknown 0 broad.mit.edu 37 1 1854576 1854576 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:1854576G>A uc001aik.2 - 9 1379 c.529C>T c.(529-531)CGG>TGG p.R177W uc001ail.2_Missense_Mutation_p.R177W RecName: Full=Uncharacterized protein C1orf222; NA GGGCCTGGCCGGGAGCTGGCT 0.642 NA 5 16 0 0 0.001168 0 0 MEGF6 1953 broad.mit.edu 37 1 3440803 3440803 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:3440803G>C uc001akl.2 - 5 716 c.489C>G c.(487-489)GAC>GAG p.D163E MEGF6_uc001akk.2_Missense_Mutation_p.D58E NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 163 EGF-like 2; calcium-binding (Potential). extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) TTCGGCATTCGTCCACATCTG 0.652 Ovarian(73;978 3658) NA 9 26 0 0 0.001855 0 0 CHD5 26038 broad.mit.edu 37 1 6184629 6184629 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:6184629G>C uc001amb.1 - 30 4587 c.4487C>G c.(4486-4488)TCC>TGC p.S1496C CHD5_uc001alz.1_Missense_Mutation_p.S353C|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_Intron NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1496 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTGCTGCCTGGAGAGGCCCTC 0.642 NA 3 20 0 0 0.004672 0 0 KIF1B 23095 broad.mit.edu 37 1 10431226 10431226 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:10431226G>T uc001aqx.3 + 45 5054 c.4852G>T c.(4852-4854)GAT>TAT p.D1618Y KIF1B_uc001aqw.3_Missense_Mutation_p.D1572Y|KIF1B_uc001aqy.2_Missense_Mutation_p.D1592Y|KIF1B_uc001aqz.2_Missense_Mutation_p.D1618Y|KIF1B_uc001ara.2_Missense_Mutation_p.D1578Y|KIF1B_uc001arb.2_Missense_Mutation_p.D1604Y NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1618 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AATTGGACGGGATCCCTCTGA 0.483 NA 23 36 1.1804e-14 1.89085e-14 0.003954 1 0 MTOR 2475 broad.mit.edu 37 1 11272478 11272478 + Missense_Mutation SNP T T C rs151082401 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:11272478T>C uc001asd.2 - 23 3573 c.3452A>G c.(3451-3453)TAT>TGT p.Y1151C NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1151 HEAT 7. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CCGGGAGGCATAGTCAGTGAA 0.507 NA 10 44 0 0 0.006214 0 0 PTCHD2 57540 broad.mit.edu 37 1 11591678 11591678 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:11591678G>T uc001ash.3 + 17 3424 c.3286G>T c.(3286-3288)GAG>TAG p.E1096* NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1096 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGAGCTGCCCGAGCCCAACCT 0.662 NA 14 28 1.52009e-12 2.30153e-12 0.003163 1 0 PTCHD2 57540 broad.mit.edu 37 1 11596643 11596643 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:11596643T>C uc001ash.3 + 21 4217 c.4079T>C c.(4078-4080)CTG>CCG p.L1360P NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1360 Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTCAAGGCCCTGGGTGCCGTG 0.672 NA 5 14 0 0 0.001984 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596647 11596647 + Silent SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:11596647T>G uc001ash.3 + 21 4221 c.4083T>G c.(4081-4083)GGT>GGG p.G1361G NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1361 Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGGCCCTGGGTGCCGTGCTGC 0.672 NA 4 11 0 0 0.001168 0 0 VPS13D 55187 broad.mit.edu 37 1 12328835 12328835 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:12328835G>C uc001atv.2 + 16 2015 c.1874G>C c.(1873-1875)CGG>CCG p.R625P VPS13D_uc001atw.2_Missense_Mutation_p.R625P NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 625 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTTGAGAGGCGGCTCAATGTC 0.463 NA 71 151 0 0 0.00361 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854318 12854318 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:12854318G>T uc001auj.1 + 3 645 c.542G>T c.(541-543)TGC>TTC p.C181F NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 181 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) GTACACCTGTGCTGTAGTAAG 0.403 NA 9 651 5.04308e-16 8.29956e-16 0.00623 1 0 LOC649330 649330 broad.mit.edu 37 1 12907903 12907903 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:12907903T>C uc009vno.2 - 1 335 c.240A>G c.(238-240)GTA>GTG p.V80V HNRNPCL1_uc010obf.1_Silent_p.V80V NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 80 nucleic acid binding|nucleotide binding 0 GGTTAATATCTACAACCTGGC 0.488 NA 12 185 0 0 0.000978 0 0 PDPN 10630 broad.mit.edu 37 1 13936946 13936946 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:13936946C>G uc001avd.2 + 3 543 c.494C>G c.(493-495)ACA>AGA p.T165R PDPN_uc001avc.2_Missense_Mutation_p.T165R|PDPN_uc009vob.2_Missense_Mutation_p.T47R|PDPN_uc009voc.2_Missense_Mutation_p.T47R|PDPN_uc001ave.2_Missense_Mutation_p.T47R|PDPN_uc001avf.2_Missense_Mutation_p.T47R NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 89 Extracellular (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) TCAGAAAGCACAGTCCACGCG 0.502 NA 9 49 0 0 0.004482 0 0 TMEM51 55092 broad.mit.edu 37 1 15541749 15541749 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:15541749G>C uc001avw.3 + 3 685 c.166G>C c.(166-168)GGC>CGC p.G56R TMEM51_uc010obk.1_Missense_Mutation_p.G56R|TMEM51_uc001avz.2_Missense_Mutation_p.G56R|TMEM51_uc001avy.2_Missense_Mutation_p.G56R|TMEM51_uc001avx.2_Missense_Mutation_p.G56R NM_001136216 NP_001129688 Q9NW97 TMM51_HUMAN transmembrane protein 51 56 integral to membrane 0 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) GGTGGGTGGCGGCATCCTCAA 0.607 NA 48 101 0 0 0.00361 0 0 EPHA2 1969 broad.mit.edu 37 1 16464386 16464386 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:16464386C>A uc001aya.1 - 5 1411 c.1274G>T c.(1273-1275)CGC>CTC p.R425L EPHA2_uc010oca.1_Missense_Mutation_p.R425L NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 425 Extracellular (Potential).|Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACGGAAGCTGCGGCTGGTTAC 0.632 NA 15 38 1.15919e-05 1.36171e-05 0.008871 1 0 PLA2G2A 5320 broad.mit.edu 37 1 20302256 20302256 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:20302256A>T uc001bcu.2 - 5 591 c.373T>A c.(373-375)TAC>AAC p.Y125N PLA2G2A_uc001bcv.2_Missense_Mutation_p.Y125N|PLA2G2A_uc010oda.1_Missense_Mutation_p.Y125N|PLA2G2A_uc010odb.1_Missense_Mutation_p.Y125N NM_001161729 NP_001155201 P14555 PA2GA_HUMAN phospholipase A2, group IIA precursor 125 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TTTTTATTGTAGGTCGTCTTG 0.458 NA 11 49 0 0 0.001368 0 0 ALPL 249 broad.mit.edu 37 1 21902372 21902372 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:21902372G>A uc001bet.2 + 10 1401 c.1144G>A c.(1144-1146)GTC>ATC p.V382I ALPL_uc010odn.1_Missense_Mutation_p.V330I|ALPL_uc010odo.1_Missense_Mutation_p.V327I|ALPL_uc010odp.1_Missense_Mutation_p.V305I|ALPL_uc001beu.3_Missense_Mutation_p.V382I NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 382 V -> I (in HOPS). response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CCATTCCCACGTCTTCACATT 0.607 NA 8 139 0 0 0.008291 0 0 CELA3A 10136 broad.mit.edu 37 1 22333450 22333450 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:22333450G>A uc001bfl.2 + 5 461 c.442G>A c.(442-444)GGT>AGT p.G148S NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 148 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 CCCTCCCGCTGGTGACATCCT 0.602 NA 37 69 0 0 0.005524 0 0 SLC30A2 7780 broad.mit.edu 37 1 26371649 26371649 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:26371649C>A uc001blh.1 - 2 327 c.110G>T c.(109-111)GGC>GTC p.G37V SLC30A2_uc001blg.1_Missense_Mutation_p.G37V NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 37 Cytoplasmic (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) CAAGTCCAGGCCAGGTCGGGG 0.612 NA 22 68 1.10513e-12 1.68826e-12 0.002299 1 0 RPS6KA1 6195 broad.mit.edu 37 1 26887237 26887237 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:26887237G>T uc001bmr.1 + 15 1399 c.1236G>T c.(1234-1236)CTG>CTT p.L412L RPS6KA1_uc010ofe.1_Silent_p.L320L|RPS6KA1_uc010off.1_Silent_p.L396L|RPS6KA1_uc001bms.1_Silent_p.L421L|RPS6KA1_uc009vsl.1_Silent_p.L255L NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 412 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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 cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GGAAGAACCTGGTTTTTAGTG 0.517 NA 28 43 5.77227e-19 9.91472e-19 0.008361 1 0 ARID1A 8289 broad.mit.edu 37 1 27100358 27100358 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:27100358A>T uc001bmv.1 + 17 4443 c.4070A>T c.(4069-4071)CAG>CTG p.Q1357L ARID1A_uc001bmt.1_Missense_Mutation_p.Q1356L|ARID1A_uc001bmu.1_Missense_Mutation_p.Q1357L|ARID1A_uc001bmw.1_Missense_Mutation_p.Q974L|ARID1A_uc001bmx.1_Missense_Mutation_p.Q203L|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1357 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTCCCCAGCCAGCAGACTACA 0.502 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 69 151 0 0 0.00361 0 0 MATN1 4146 broad.mit.edu 37 1 31194360 31194360 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:31194360G>T uc001brz.2 - 2 367 c.333C>A c.(331-333)ATC>ATA p.I111I uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank NM_002379 NP_002370 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein precursor 111 VWFA 1. 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) ACAGCGGCTGGATACGGCGCA 0.637 NA 25 85 2.50493e-22 4.45224e-22 0.004656 1 0 CLSPN 63967 broad.mit.edu 37 1 36217085 36217085 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:36217085T>A uc001bzi.2 - 10 1874 c.1794A>T c.(1792-1794)AAA>AAT p.K598N CLSPN_uc009vux.2_Missense_Mutation_p.K534N NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 598 Potential. activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCAGTTTAGCTTTTAACACCT 0.378 NA 12 32 0 0 0.001855 0 0 KCNQ4 9132 broad.mit.edu 37 1 41304035 41304035 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:41304035G>T uc001cgh.1 + 14 2010 c.1928G>T c.(1927-1929)TGC>TTC p.C643F KCNQ4_uc001cgi.1_Missense_Mutation_p.C589F NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 643 |Cytoplasmic.|A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TATTCGCGCTGCCTGCGCTCT 0.682 NA 27 77 4.87955e-14 7.70774e-14 0.005443 1 0 CCDC30 728621 broad.mit.edu 37 1 43108212 43108212 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:43108212G>T uc009vwk.1 + 12 1817 c.1707G>T c.(1705-1707)CAG>CAT p.Q569H CCDC30_uc001chm.2_Missense_Mutation_p.Q267H|CCDC30_uc001chn.2_Missense_Mutation_p.Q358H NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 569 Potential. 0 GGAAACTTCAGGAGCAAGTCA 0.458 NA 52 132 9.79885e-19 1.68027e-18 0.00361 1 0 PDE4B 5142 broad.mit.edu 37 1 66833714 66833714 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:66833714T>A uc001dcn.2 + 15 1819 c.1628T>A c.(1627-1629)GTT>GAT p.V543D PDE4B_uc009war.2_Missense_Mutation_p.V451D|PDE4B_uc001dco.2_Missense_Mutation_p.V543D|PDE4B_uc001dcp.2_Missense_Mutation_p.V528D|PDE4B_uc001dcq.2_Missense_Mutation_p.V371D|PDE4B_uc009was.2_Missense_Mutation_p.V310D NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 543 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AGTTCAGGCGTTCTTCTCCTA 0.383 NA 6 41 0 0 0.001984 0 0 LRRC7 57554 broad.mit.edu 37 1 70505179 70505179 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:70505179G>A uc001dep.2 + 19 3588 c.3558G>A c.(3556-3558)GCG>GCA p.A1186A LRRC7_uc009wbg.2_Silent_p.A470A|LRRC7_uc001deq.2_Silent_p.A427A NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1186 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AAGCTCAGGCGGGAAGTTTTC 0.488 NA 6 26 0 0 0.001168 0 0 LRRC7 57554 broad.mit.edu 37 1 70505385 70505385 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:70505385C>A uc001dep.2 + 19 3794 c.3764C>A c.(3763-3765)ACT>AAT p.T1255N LRRC7_uc009wbg.2_Missense_Mutation_p.T539N|LRRC7_uc001deq.2_Missense_Mutation_p.T496N NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1255 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ACGAGGCCTACTCCTGTGAAG 0.448 NA 14 77 0.000151284 0.000169346 0.001855 1 0 GBP6 163351 broad.mit.edu 37 1 89847391 89847391 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:89847391A>T uc001dnf.2 + 7 1284 c.1010A>T c.(1009-1011)CAG>CTG p.Q337L GBP6_uc010ost.1_Missense_Mutation_p.Q207L NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 337 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TACAGCCAGCAGATGGCCCAG 0.587 NA 4 36 0 0 0.001984 0 0 LPPR5 163404 broad.mit.edu 37 1 99418782 99418782 + Nonsense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:99418782A>T uc001dsb.2 - 3 687 c.465T>A c.(463-465)TGT>TGA p.C155* LPPR5_uc001dsc.2_Nonsense_Mutation_p.C155* NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 155 integral to membrane hydrolase activity 0 AATTGGGCTTACACAGGGCAA 0.458 NA 20 54 0 0 0.00333 0 0 LPPR4 9890 broad.mit.edu 37 1 99772039 99772039 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:99772039C>A uc001dse.2 + 7 1871 c.1765C>A c.(1765-1767)CTC>ATC p.L589I LPPR4_uc010oue.1_Missense_Mutation_p.L531I NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 589 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GCAGGGTGTCCTCCAAAGCAG 0.532 NA 11 19 6.40141e-05 7.26916e-05 0.000978 1 0 SASS6 163786 broad.mit.edu 37 1 100588014 100588014 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:100588014A>C uc001dsu.2 - 4 374 c.233T>G c.(232-234)GTA>GGA p.V78G SASS6_uc009wdz.2_5'UTR NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN spindle assembly abnormal protein 6 78 PISA. centriole replication centriole upper_aerodigestive_tract(1)|ovary(1) 2 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) TAAGAAGTCTACCAGAAGACC 0.308 NA 8 75 0 0 0.004482 0 0 COL11A1 1301 broad.mit.edu 37 1 103343713 103343713 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:103343713T>A uc001dul.2 - 67 5601 c.5283A>T c.(5281-5283)AAA>AAT p.K1761N COL11A1_uc001duk.2_Missense_Mutation_p.K957N|COL11A1_uc001dum.2_Missense_Mutation_p.K1773N|COL11A1_uc001dun.2_Missense_Mutation_p.K1722N|COL11A1_uc009weh.2_Missense_Mutation_p.K1645N NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1761 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTCATAGCCTTTTCTGGACT 0.303 NA 4 18 0 0 0.009096 0 0 COL11A1 1301 broad.mit.edu 37 1 103544219 103544219 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:103544219G>T uc001dul.2 - 3 801 c.483C>A c.(481-483)GAC>GAA p.D161E COL11A1_uc001dum.2_Missense_Mutation_p.D161E|COL11A1_uc001dun.2_Missense_Mutation_p.D161E|COL11A1_uc009weh.2_Missense_Mutation_p.D161E NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 161 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTACTTCCCGTCAGCGATGT 0.308 NA 7 39 2.0095e-06 2.43619e-06 0.001984 1 0 NTNG1 22854 broad.mit.edu 37 1 107973450 107973450 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:107973450A>T uc001dvh.3 + 6 1884 c.1166A>T c.(1165-1167)CAC>CTC p.H389L NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 389 Laminin EGF-like 2. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AGCTGTAAACACAACACTAGA 0.453 NA 3 27 0 0 0.009096 0 0 VAV3 10451 broad.mit.edu 37 1 108303503 108303503 + Splice_Site SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:108303503T>A uc001dvk.1 - 10 976 c.922_splice c.e10-1 p.E308_splice VAV3_uc010ouw.1_Splice_Site_p.E308_splice|VAV3_uc001dvl.1_Splice_Site_p.E132_splice|VAV3_uc010oux.1_Splice_Site_p.E308_splice NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) GGAACATTCCTAATGAAATGT 0.363 NA 5 19 0 0 0.000602 0 0 SLC25A24 29957 broad.mit.edu 37 1 108681711 108681711 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:108681711C>T uc001dvn.3 - 9 1432 c.1218G>A c.(1216-1218)TTG>TTA p.L406L SLC25A24_uc001dvm.2_Silent_p.L387L NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 406 Solcar 3.|Helical; Name=5; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TCACCAAAGCCAATGGGTAGC 0.473 NA 21 37 0 0 0.010504 0 0 GNAI3 2773 broad.mit.edu 37 1 110134684 110134684 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:110134684G>T uc001dxz.2 + 8 1051 c.894G>T c.(892-894)GAG>GAT p.E298D NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 298 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) CATATGAAGAGGCAGCTGCCT 0.413 NA 11 44 9.70103e-10 1.33259e-09 0.008291 1 0 GNAI3 2773 broad.mit.edu 37 1 110134687 110134687 + Silent SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:110134687A>T uc001dxz.2 + 8 1054 c.897A>T c.(895-897)GCA>GCT p.A299A NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 299 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) ATGAAGAGGCAGCTGCCTATA 0.418 NA 11 44 0 0 0.008291 0 0 IGSF3 3321 broad.mit.edu 37 1 117122426 117122426 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:117122426A>G uc001egr.1 - 10 3627 c.2922T>C c.(2920-2922)TGT>TGC p.C974C IGSF3_uc001egq.1_Silent_p.C994C NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 974 Ig-like C2-type 8.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ACACGATGCTACAGTCCAGCT 0.602 NA 12 24 0 0 0.001368 0 0 NBPF9 400818 broad.mit.edu 37 1 144619896 144619896 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:144619896G>A uc009wig.1 + 8 656 c.580G>A c.(580-582)GCT>ACT p.A194T NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.A194T|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.A125T|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.A125T|NBPF9_uc010oyg.1_Missense_Mutation_p.A159T|NBPF9_uc009wii.1_5'UTR NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 194 NBPF 1. cytoplasm 0 GGTGCAGAAGGCTGAAGTGAG 0.527 NA 3 22 0 0 0.004672 0 0 S100A5 6276 broad.mit.edu 37 1 153512581 153512581 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:153512581C>G uc001fbx.2 - 3 369 c.141G>C c.(139-141)CTG>CTC p.L47L NM_002962 NP_002953 P33763 S10A5_HUMAN S100 calcium binding protein A5 29 1; low affinity (Potential).|EF-hand 1. nucleus calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding 0 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CCTTCCTACTCAGGGTCAGTT 0.522 NA 17 116 0 0 0.006122 0 0 FLAD1 80308 broad.mit.edu 37 1 154962050 154962050 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:154962050A>G uc001fgf.1 + 3 1486 c.1132A>G c.(1132-1134)AAA>GAA p.K378E FLAD1_uc001fgd.1_Missense_Mutation_p.K378E|FLAD1_uc001fge.1_Missense_Mutation_p.K281E|FLAD1_uc001fgg.1_Missense_Mutation_p.K281E|FLAD1_uc001fgh.1_Intron NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 378 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTCTTTGGGGAAAAAGGTGGC 0.488 NA 5 102 0 0 0.001168 0 0 INSRR 3645 broad.mit.edu 37 1 156812857 156812857 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:156812857C>T uc010pht.1 - 17 3319 c.3065G>A c.(3064-3066)CGG>CAG p.R1022Q NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1022 Cytoplasmic (Potential).|Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AATGCATTCCCGTGGGCTGGC 0.537 NA 31 38 0 0 0.002445 0 0 FCER1A 2205 broad.mit.edu 37 1 159277583 159277583 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:159277583T>C uc001ftq.2 + 6 734 c.635T>C c.(634-636)GTG>GCG p.V212A NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 212 Helical; (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CCATTGTTGGTGGTGATTCTG 0.408 NA 22 104 0 0 0.005443 0 0 LRRC52 440699 broad.mit.edu 37 1 165532835 165532835 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:165532835A>T uc001gde.2 + 2 772 c.716A>T c.(715-717)CAC>CTC p.H239L LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 239 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TGCATCACGCACCTGGACCAC 0.572 NA 12 23 0 0 0.001368 0 0 FMO4 2329 broad.mit.edu 37 1 171306562 171306562 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:171306562A>G uc001gho.2 + 9 1465 c.1248A>G c.(1246-1248)AAA>AAG p.K416K TOP1P1_uc010pmf.1_5'Flank NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 416 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGCTCATTAAAAGGTATGAAA 0.343 Pancreas(24;816 862 7754 7993 32832) NA 20 44 0 0 0.008871 0 0 GPR52 9293 broad.mit.edu 37 1 174417343 174417343 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:174417343G>T uc001gka.1 + 1 132 c.94G>T c.(94-96)GGC>TGC p.G32C RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 32 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 ACTTGGATTTGGCCACTACAG 0.473 Ovarian(92;924 1390 1930 16467 40583) NA 10 52 2.17888e-05 2.54784e-05 0.006214 1 0 RFWD2 64326 broad.mit.edu 37 1 175956124 175956124 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:175956124T>A uc001gku.1 - 18 2344 c.2088A>T c.(2086-2088)ACA>ACT p.T696T RFWD2_uc001gkv.1_Silent_p.T672T|RFWD2_uc001gkw.1_Silent_p.T456T|RFWD2_uc009wwv.2_Silent_p.T495T|RFWD2_uc001gkt.1_Silent_p.T535T NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 696 WD 7. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 CAAATTCATTTGTATCATCTT 0.363 Ovarian(134;1413 1765 5706 35534 51541) NA 36 65 0 0 0.00874 0 0 FAM5B 57795 broad.mit.edu 37 1 177250308 177250308 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:177250308C>A uc001glf.2 + 8 2308 c.1996C>A c.(1996-1998)CTG>ATG p.L666M FAM5B_uc001glg.2_Missense_Mutation_p.L561M NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 666 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CTATGAGCCCCTGGAGATGAC 0.468 NA 12 78 3.07112e-06 3.68823e-06 0.000978 1 0 KIAA1614 57710 broad.mit.edu 37 1 180905361 180905361 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:180905361C>T uc001gok.2 + 5 2383 c.2316C>T c.(2314-2316)TCC>TCT p.S772S KIAA1614_uc001gol.1_Silent_p.S393S|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 772 ovary(3)|skin(1) 4 GCCACGAGTCCCTGGAAATTG 0.612 NA 14 26 0 0 0.003163 0 0 RNF2 6045 broad.mit.edu 37 1 185060780 185060780 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:185060780A>T uc001grc.1 + 3 390 c.157A>T c.(157-159)ATT>TTT p.I53F RNF2_uc001grd.1_Missense_Mutation_p.I53F|RNF2_uc001gre.1_5'Flank NM_007212 NP_009143 Q99496 RING2_HUMAN ring finger protein 2 53 Interaction with HIP2.|RING-type. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(1) 1 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) AATGTGCCCAATTTGTTTGGA 0.383 NA 68 118 0 0 0.00361 0 0 FAM5C 339479 broad.mit.edu 37 1 190067568 190067568 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:190067568G>T uc001gse.1 - 8 2113 c.1881C>A c.(1879-1881)ATC>ATA p.I627I FAM5C_uc010pot.1_Silent_p.I525I NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 627 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TTCTCAGGTAGATGTGTACTG 0.458 NA 102 170 1.32035e-51 2.53646e-51 0.00361 1 0 CFH 3075 broad.mit.edu 37 1 196706738 196706738 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:196706738A>C uc001gtj.3 + 17 2970 c.2730A>C c.(2728-2730)GAA>GAC p.E910D NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 910 Sushi 15. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TATCTGAAGAAAATGAAACAA 0.368 NA 8 37 0 0 0.004482 0 0 CFHR1 3078 broad.mit.edu 37 1 196796100 196796100 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:196796100G>C uc001gtn.2 + 3 509 c.395G>C c.(394-396)CGG>CCG p.R132P CFHR1_uc001gtm.2_Intron NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 132 Sushi 2. complement activation extracellular space 0 TGTGTAGAACGGGGCTGGTCC 0.393 NA 28 58 0 0 0.009535 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204198174 204198174 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:204198174C>A uc001hau.2 - 19 2959 c.2642G>T c.(2641-2643)CGG>CTG p.R881L NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 881 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CTCCTCTGCCCGCAGGGCTGC 0.617 NA 7 44 5.18039e-06 6.17778e-06 0.00308 1 0 PM20D1 148811 broad.mit.edu 37 1 205809437 205809437 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:205809437G>A uc001hdj.2 - 10 1104 c.1059C>T c.(1057-1059)CCC>CCT p.P353P PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 353 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGGCCACTGGGGGGATGACAT 0.498 NA 13 23 0 0 0.00245 0 0 IKBKE 9641 broad.mit.edu 37 1 206653244 206653244 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:206653244A>G uc001hdz.1 + 11 1583 c.1215A>G c.(1213-1215)AAA>AAG p.K405K IKBKE_uc009xbv.1_Silent_p.K405K|IKBKE_uc001hea.1_Silent_p.K320K NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 405 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) TCGTCCCCAAAGTGGACCTGC 0.602 NA OREG0014170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 24 0 0 0.009096 0 0 IRF6 3664 broad.mit.edu 37 1 209974728 209974728 + Nonsense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:209974728T>A uc001hhq.1 - 3 294 c.31A>T c.(31-33)AAG>TAG p.K11* IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Nonsense_Mutation_p.K11* NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 11 IRF tryptophan pentad repeat. cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) AGCCAGGGCTTTAGCCGGACT 0.597 NA HNSCC(57;0.16) 41 64 0 0 0.002522 0 0 USH2A 7399 broad.mit.edu 37 1 216062061 216062061 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:216062061A>T uc001hku.1 - 41 8317 c.7930T>A c.(7930-7932)TGG>AGG p.W2644R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2644 Extracellular (Potential).|Fibronectin type-III 13. 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) GGGGGTTGCCAAGATATAATC 0.507 NA HNSCC(13;0.011) 10 50 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 216219923 216219923 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:216219923C>A uc001hku.1 - 32 6562 c.6175G>T c.(6175-6177)GTT>TTT p.V2059F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2059 Extracellular (Potential).|Fibronectin type-III 7. 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) GGTGGCTGAACCTCTTGTGGG 0.378 NA HNSCC(13;0.011) 11 48 1.5842e-08 2.06776e-08 0.001855 1 0 ITPKB 3707 broad.mit.edu 37 1 226923458 226923458 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:226923458C>G uc010pvo.1 - 2 2042 c.1702G>C c.(1702-1704)GCT>CCT p.A568P ITPKB_uc001hqh.2_Missense_Mutation_p.A568P NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 568 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) ATGATGACAGCAGGTATGTTG 0.617 Colon(84;110 1851 5306 33547) NA 8 18 0 0 0.00308 0 0 TRIM17 51127 broad.mit.edu 37 1 228596162 228596162 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:228596162G>C uc001hsu.2 - 7 1559 c.1174C>G c.(1174-1176)CAG>GAG p.Q392E TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.Q392E|TRIM17_uc001hsw.2_Missense_Mutation_p.Q365E NM_016102 NP_057186 Q9Y577 TRI17_HUMAN tripartite motif-containing 17 isoform 1 392 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Prostate(94;0.0724) TTGGACAGCTGCACCACCCAG 0.612 NA 12 42 0 0 0.001855 0 0 KIAA1383 54627 broad.mit.edu 37 1 232943500 232943500 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:232943500G>T uc001hvh.2 + 1 2863 c.2731G>T c.(2731-2733)GGG>TGG p.G911W NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 769 Ser-rich. ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) TTTTTCAGCCGGGTCACCTGT 0.378 NA 11 42 1.08611e-07 1.37377e-07 0.000978 1 0 PCNXL2 80003 broad.mit.edu 37 1 233394783 233394783 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:233394783C>A uc001hvl.2 - 5 1060 c.825G>T c.(823-825)CCG>CCT p.P275P PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 275 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) CACTCCCCCACGGCTGGAAAG 0.522 NA 28 19 1.42536e-11 2.08102e-11 0.004656 1 0 RYR2 6262 broad.mit.edu 37 1 237881823 237881823 + Splice_Site SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:237881823T>A uc001hyl.1 + 73 10674 c.10554_splice c.e73+2 p.K3518_splice RYR2_uc010pxz.1_Splice_Site_p.K473_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAAGGCAAGGTAAGCCAAATT 0.289 NA 3 20 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237936818 237936818 + Splice_Site SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:237936818A>T uc001hyl.1 + 87 11767 c.11647_splice c.e87-2 p.E3883_splice RYR2_uc010pya.1_Splice_Site_p.E298_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTATTTCCCAGGAATCAATT 0.323 NA 11 18 0 0 0.000978 0 0 KIF26B 55083 broad.mit.edu 37 1 245582977 245582977 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:245582977G>A uc001ibf.1 + 4 1536 c.1096G>A c.(1096-1098)GCC>ACC p.A366T KIF26B_uc010pyq.1_Missense_Mutation_p.A366T NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 366 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CAGTGTCCCAGCCTCGCAGGG 0.582 NA 14 65 0 0 0.00245 0 0 KIF26B 55083 broad.mit.edu 37 1 245848767 245848767 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:245848767A>T uc001ibf.1 + 12 2922 c.2482A>T c.(2482-2484)ACC>TCC p.T828S KIF26B_uc001ibg.1_Missense_Mutation_p.T446S|KIF26B_uc001ibh.1_Missense_Mutation_p.T70S NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 828 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCGCAGGCCCACCCAGCTGAG 0.642 NA 10 15 0 0 0.008291 0 0 ZNF695 57116 broad.mit.edu 37 1 247150365 247150365 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:247150365T>A uc009xgu.2 - 4 1597 c.1452A>T c.(1450-1452)ACA>ACT p.T484T ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 484 C2H2-type 12. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGGTATGAATTGTCTTATGTT 0.398 NA 19 30 0 0 0.007413 0 0 NLRP3 114548 broad.mit.edu 37 1 247588321 247588321 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:247588321C>A uc001icr.2 + 5 1714 c.1576C>A c.(1576-1578)CAG>AAG p.Q526K NLRP3_uc001ics.2_Missense_Mutation_p.Q526K|NLRP3_uc001icu.2_Missense_Mutation_p.Q526K|NLRP3_uc001icw.2_Missense_Mutation_p.Q526K|NLRP3_uc001icv.2_Missense_Mutation_p.Q526K|NLRP3_uc010pyw.1_Missense_Mutation_p.Q524K|NLRP3_uc001ict.1_Missense_Mutation_p.Q524K NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 526 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CATGACTTTCCAGGAGTTCTT 0.517 NA 13 21 0.00316338 0.00338531 0.003163 1 0 OR2C3 81472 broad.mit.edu 37 1 247695185 247695185 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:247695185A>T uc009xgy.2 - 2 991 c.629T>A c.(628-630)CTG>CAG p.L210Q C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CCCCAGAGGCAGGACAACAAA 0.532 NA 8 22 0 0 0.00308 0 0 OR14A16 284532 broad.mit.edu 37 1 247978138 247978138 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:247978138C>T uc001idm.1 - 1 894 c.894G>A c.(892-894)CTG>CTA p.L298L NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCAACATCCCCAGAGCCACCT 0.358 Ovarian(112;180 1586 15073 21914 33526) NA 23 43 0 0 0.005443 0 0 OR2M3 127062 broad.mit.edu 37 1 248366414 248366414 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:248366414G>T uc010pzg.1 + 1 45 c.45G>T c.(43-45)CTG>CTT p.L15L NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCATCCTCCTGGGAATCTTCA 0.463 NA 36 206 8.16277e-20 1.41636e-19 0.006999 1 0 OR2T33 391195 broad.mit.edu 37 1 248436676 248436676 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:248436676C>A uc010pzi.1 - 1 441 c.441G>T c.(439-441)TGG>TGT p.W147C NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|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;0.0245) CACCCAGGAGCCAACACGACA 0.592 NA 24 93 1.55469e-16 2.58778e-16 0.00333 1 0 OR2T33 391195 broad.mit.edu 37 1 248436752 248436752 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:248436752G>T uc010pzi.1 - 1 365 c.365C>A c.(364-366)GCG>GAG p.A122E NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|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;0.0245) GCAGACAGCCGCATAGCGGTC 0.612 NA 5 78 5.18039e-06 6.17778e-06 0.00308 1 0 OR14I1 401994 broad.mit.edu 37 1 248845177 248845177 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:248845177T>A uc001ieu.1 - 1 429 c.429A>T c.(427-429)GCA>GCT p.A143A NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGTGGTGACTGCCATCTGAT 0.532 NA 3 17 0 0 0.004672 0 0 ZNF692 55657 broad.mit.edu 37 1 249144510 249144510 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:249144510C>A uc001ifc.1 - 12 1626 c.1459G>T c.(1459-1461)GAG>TAG p.E487* ZNF692_uc001iez.1_Nonsense_Mutation_p.E209*|ZNF692_uc001ifa.1_Nonsense_Mutation_p.E209*|ZNF692_uc001ifb.1_Nonsense_Mutation_p.E283*|ZNF692_uc001ifd.1_Nonsense_Mutation_p.E486*|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Nonsense_Mutation_p.E442*|ZNF692_uc010pzr.1_Nonsense_Mutation_p.E492* NM_017865 NP_060335 Q9BU19 ZN692_HUMAN zinc finger protein 692 isoform 2 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGACAGGGCTCTAGGGGACCA 0.622 NA 18 120 6.33239e-15 1.02077e-14 0.010504 1 0 CELF2 10659 broad.mit.edu 37 10 11299787 11299787 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:11299787C>A uc001iki.3 + 5 561 c.469C>A c.(469-471)CAG>AAG p.Q157K CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.Q157K|CELF2_uc001ikk.2_Missense_Mutation_p.Q164K|CELF2_uc001ikl.3_Missense_Mutation_p.Q164K|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.Q133K|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Missense_Mutation_p.Q133K|CELF2_uc001ikp.3_Missense_Mutation_p.Q133K|CELF2_uc010qbn.1_Missense_Mutation_p.Q141K|CELF2_uc009xiw.1_3'UTR|CELF2_uc010qbo.1_Missense_Mutation_p.Q46K|CELF2_uc010qbp.1_5'UTR NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 157 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 TCCATTTGGCCAGATAGAAGA 0.478 NA 21 38 1.55795e-14 2.48396e-14 0.001882 1 0 DHTKD1 55526 broad.mit.edu 37 10 12131102 12131102 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:12131102C>T uc001ild.3 + 5 934 c.835C>T c.(835-837)CTC>TTC p.L279F NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 279 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GCACCATCCCCTCCATGTGAC 0.597 NA 19 53 0 0 0.007413 0 0 CUBN 8029 broad.mit.edu 37 10 16957942 16957942 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:16957942C>A uc001ioo.2 - 46 7140 c.7088G>T c.(7087-7089)TGT>TTT p.C2363F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2363 CUB 17. 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) ATGCCACTCACAGAATAAGTT 0.448 NA 14 45 6.94344e-10 9.60243e-10 0.006122 1 0 CUBN 8029 broad.mit.edu 37 10 17152917 17152917 + Splice_Site SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:17152917C>A uc001ioo.2 - 9 1067 c.1015_splice c.e9+1 p.G339_splice NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 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) CGAGGCAGCACCTGGTGGACA 0.483 NA 22 56 8.24728e-16 1.3551e-15 0.004656 1 0 ST8SIA6 338596 broad.mit.edu 37 10 17363209 17363209 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:17363209C>A uc001ipd.2 - 8 865 c.865G>T c.(865-867)GAG>TAG p.E289* ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 289 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 GCTTTAGACTCTTCGAGCGTG 0.448 NA 46 111 8.20599e-20 1.42144e-19 0.002852 1 0 ST8SIA6 338596 broad.mit.edu 37 10 17365138 17365138 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:17365138G>T uc001ipd.2 - 7 654 c.654C>A c.(652-654)ACC>ACA p.T218T ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 218 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 CATCTCCTGTGGTTGGGGGTA 0.289 NA 14 81 3.52763e-06 4.2315e-06 0.00499 1 0 SLC39A12 221074 broad.mit.edu 37 10 18242435 18242435 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:18242435G>A uc001ipo.2 + 2 503 c.230G>A c.(229-231)AGG>AAG p.R77K SLC39A12_uc001ipn.2_Missense_Mutation_p.R77K|SLC39A12_uc001ipp.2_Missense_Mutation_p.R77K|SLC39A12_uc010qck.1_Intron NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 77 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TGCCCACGGAGGAGAAACGGA 0.483 NA 7 22 0 0 0.00308 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280107 18280107 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:18280107C>A uc001ipo.2 + 8 1570 c.1297C>A c.(1297-1299)CCA>ACA p.P433T SLC39A12_uc001ipn.2_Missense_Mutation_p.P433T|SLC39A12_uc001ipp.2_Missense_Mutation_p.P433T|SLC39A12_uc010qck.1_Missense_Mutation_p.P299T NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 433 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GCAGGAAGCCCCAGAATTTGG 0.343 NA 21 59 6.44725e-10 8.94042e-10 0.002299 1 0 GPR158 57512 broad.mit.edu 37 10 25886831 25886831 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:25886831C>A uc001isj.2 + 11 2336 c.2276C>A c.(2275-2277)ACG>AAG p.T759K GPR158_uc001isk.2_Missense_Mutation_p.T134K NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 759 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity p.T759M(1) ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AGACGCATTACGGAGATCCCA 0.527 NA 33 58 2.81731e-10 3.93884e-10 0.002096 1 0 YME1L1 10730 broad.mit.edu 37 10 27437936 27437936 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:27437936A>T uc001iti.2 - 2 249 c.67T>A c.(67-69)TTC>ATC p.F23I YME1L1_uc001itj.2_Missense_Mutation_p.F23I|YME1L1_uc010qdl.1_Missense_Mutation_p.F23I|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Missense_Mutation_p.F23I NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 23 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 GGTGTATGGAAGGCATTGATG 0.368 NA 12 234 0 0 0.00499 0 0 ZNF438 220929 broad.mit.edu 37 10 31138374 31138374 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:31138374T>A uc010qdz.1 - 7 1395 c.960A>T c.(958-960)CCA>CCT p.P320P ZNF438_uc001ivn.2_Silent_p.P271P|ZNF438_uc010qdy.1_Silent_p.P310P|ZNF438_uc001ivo.3_Splice_Site|ZNF438_uc009xlg.2_Silent_p.P320P|ZNF438_uc001ivp.3_Silent_p.P310P|ZNF438_uc010qea.1_Silent_p.P320P|ZNF438_uc010qeb.1_Silent_p.P320P|ZNF438_uc010qec.1_Intron NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) CCTTAGGTCCTGGTAAAGAAA 0.473 NA 36 80 0 0 0.002836 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344464 38344464 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:38344464G>A uc001izh.2 + 5 1587 c.1409G>A c.(1408-1410)TGT>TAT p.C470Y ZNF33A_uc001izg.2_Missense_Mutation_p.C471Y|ZNF33A_uc010qev.1_Missense_Mutation_p.C477Y|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 470 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CCTTTTGAATGTCTTGAGTGT 0.383 NA 5 37 0 0 0.000602 0 0 RBP3 5949 broad.mit.edu 37 10 48387881 48387881 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:48387881C>A uc001jez.2 - 1 3111 c.2997G>T c.(2995-2997)AAG>AAT p.K999N NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 999 4 X approximate tandem repeats.|4. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) TATGGGCTGCCTTCAGGTGTG 0.617 NA 28 63 2.12542e-12 3.2038e-12 0.00632 1 0 PCDH15 65217 broad.mit.edu 37 10 55570366 55570366 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:55570366C>A uc010qhs.1 - 36 4863 c.4468G>T c.(4468-4470)GAA>TAA p.E1490* PCDH15_uc010qhq.1_Nonsense_Mutation_p.E1483*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.E1478*|PCDH15_uc010qht.1_Nonsense_Mutation_p.E1483*|PCDH15_uc010qhu.1_Missense_Mutation_p.R1501S NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCACCATATTCCTCCTGTCCA 0.368 NA HNSCC(58;0.16) 8 111 0.00448238 0.00478183 0.004482 1 0 PCDH15 65217 broad.mit.edu 37 10 56138550 56138550 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:56138550C>G uc001jju.1 - 4 705 c.310G>C c.(310-312)GAT>CAT p.D104H PCDH15_uc010qhq.1_Missense_Mutation_p.D109H|PCDH15_uc010qhr.1_Missense_Mutation_p.D104H|PCDH15_uc010qhs.1_Missense_Mutation_p.D109H|PCDH15_uc010qht.1_Missense_Mutation_p.D104H|PCDH15_uc010qhu.1_Missense_Mutation_p.D104H|PCDH15_uc001jjv.1_Missense_Mutation_p.D82H|PCDH15_uc010qhv.1_Missense_Mutation_p.D104H|PCDH15_uc010qhw.1_Missense_Mutation_p.D104H|PCDH15_uc010qhx.1_Missense_Mutation_p.D104H|PCDH15_uc010qhy.1_Missense_Mutation_p.D109H|PCDH15_uc010qhz.1_Missense_Mutation_p.D104H|PCDH15_uc010qia.1_Missense_Mutation_p.D82H|PCDH15_uc010qib.1_Missense_Mutation_p.D82H|PCDH15_uc001jjw.2_Missense_Mutation_p.D104H NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 104 Cadherin 1.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACATCTCTATCCAGAACTCTT 0.328 NA HNSCC(58;0.16) 6 68 0 0 0.00308 0 0 RUFY2 55680 broad.mit.edu 37 10 70154087 70154087 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:70154087G>C uc001job.2 - 5 952 c.625C>G c.(625-627)CAA>GAA p.Q209E RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.Q140E|RUFY2_uc010qiw.1_Missense_Mutation_p.Q116E|RUFY2_uc001jod.1_Missense_Mutation_p.Q174E|RUFY2_uc009xpv.1_Missense_Mutation_p.Q57E|RUFY2_uc001joe.1_Missense_Mutation_p.Q174E NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 223 nucleus metal ion binding ovary(1) 1 TCACTTACTTGTGAGTCTAAA 0.423 NA 13 22 0 0 0.00245 0 0 TET1 80312 broad.mit.edu 37 10 70332883 70332883 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:70332883A>G uc001jok.3 + 2 1293 c.788A>G c.(787-789)CAA>CGA p.Q263R NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 263 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 GTTACCTCTCAAGGAAACCCC 0.433 NA 9 64 0 0 0.000978 0 0 CDH23 64072 broad.mit.edu 37 10 73468918 73468918 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:73468918G>A uc001jrx.3 + 26 3547 c.3170G>A c.(3169-3171)GGC>GAC p.G1057D CDH23_uc001jrz.2_Missense_Mutation_p.G673D NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1057 Cadherin 10.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ACCGTGGTGGGCCTGGACCGG 0.612 NA 3 45 0 0 0.004672 0 0 CCDC109A 90550 broad.mit.edu 37 10 74628615 74628615 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:74628615G>C uc001jtc.2 + 5 672 c.651G>C c.(649-651)CTG>CTC p.L217L CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Intron|CCDC109A_uc001jtd.2_Silent_p.L168L NM_138357 NP_612366 Q8NE86 MCU_HUMAN coiled-coil domain containing 109A 217 Potential.|Mitochondrial matrix (Potential). elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding 0 Prostate(51;0.0198) TGGCTCCCCTGGAAAAGGTAA 0.388 NA 5 45 0 0 0.000602 0 0 DLG5 9231 broad.mit.edu 37 10 79603414 79603414 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:79603414C>A uc001jzk.2 - 6 985 c.915G>T c.(913-915)ACG>ACT p.T305T DLG5_uc001jzj.2_Silent_p.T60T|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_5'Flank NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 305 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGTCCATGGCCGTGTCATACA 0.542 NA 19 132 2.94398e-08 3.80373e-08 0.007413 1 0 LRIT2 340745 broad.mit.edu 37 10 85982287 85982287 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:85982287G>T uc001kcy.2 - 3 1050 c.1042C>A c.(1042-1044)CAG>AAG p.Q348K LRIT2_uc010qmc.1_Missense_Mutation_p.Q358K NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 348 integral to membrane ovary(2) 2 TGTAGGGCCTGGGCAGGCTGG 0.542 NA 4 20 0.00024832 0.000275552 0.009096 1 0 GRID1 2894 broad.mit.edu 37 10 87966366 87966366 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:87966366G>C uc001kdl.1 - 3 376 c.275C>G c.(274-276)ACG>AGG p.T92R GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 92 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) GCCAGTGGACGTGACCAAGGC 0.597 NA Multiple Myeloma(13;0.14) 6 17 0 0 0.001984 0 0 LIPK 643414 broad.mit.edu 37 10 90497489 90497489 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:90497489G>T uc010qmv.1 + 6 767 c.767G>T c.(766-768)AGC>ATC p.S256I NM_001080518 NP_001073987 Q5VXJ0 LIPK_HUMAN lipase, family member K precursor 256 lipid catabolic process extracellular region hydrolase activity ovary(2) 2 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) CGTATTTGCAGCAACTTCCTA 0.393 NA 36 77 4.65686e-17 7.80216e-17 0.003755 1 0 CNNM1 26507 broad.mit.edu 37 10 101122153 101122153 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:101122153G>T uc001kpp.3 + 4 2317 c.2028G>T c.(2026-2028)CAG>CAT p.Q676H CNNM1_uc009xwe.2_Missense_Mutation_p.Q676H|CNNM1_uc010qpi.1_Missense_Mutation_p.Q676H|CNNM1_uc009xwf.2_Missense_Mutation_p.Q676H|CNNM1_uc009xwg.2_Missense_Mutation_p.Q76H NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 676 ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TGCTTCTACAGGTGAGTAGGA 0.542 NA 11 30 2.80697e-09 3.77464e-09 0.000978 1 0 PDZD7 79955 broad.mit.edu 37 10 102783789 102783789 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:102783789C>A uc001kso.1 - 3 478 c.263G>T c.(262-264)CGG>CTG p.R88L PDZD7_uc001ksn.2_Missense_Mutation_p.R88L NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 88 PDZ 1. cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CTTCTCCACCCGGACTGAATG 0.592 NA 17 46 2.48551e-13 3.85461e-13 0.00499 1 0 PDCD11 22984 broad.mit.edu 37 10 105197799 105197799 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:105197799C>T uc001kwy.1 + 26 3960 c.3873C>T c.(3871-3873)AAC>AAT p.N1291N NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1291 S1 motif 11. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTGCAGACAACGTATTGACTT 0.473 NA 57 144 0 0 0.00361 0 0 SORCS3 22986 broad.mit.edu 37 10 106737195 106737195 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:106737195C>A uc001kyi.1 + 4 1125 c.898C>A c.(898-900)CTG>ATG p.L300M NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 300 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TATCCAGAGCCTGCTCTTTCA 0.458 NSCLC(116;1497 1690 7108 13108 14106) NA 17 45 1.15919e-05 1.36171e-05 0.008871 1 0 KCNK18 338567 broad.mit.edu 37 10 118957067 118957067 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:118957067G>T uc010qsr.1 + 1 68 c.68G>T c.(67-69)GGC>GTC p.G23V NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 23 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CTCTTCCCTGGCCTCTGCTTC 0.632 NA 8 48 0.000157383 0.000175596 0.00308 1 0 PDZD8 118987 broad.mit.edu 37 10 119044326 119044326 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:119044326C>A uc001lde.1 - 5 2117 c.1918G>T c.(1918-1920)GAT>TAT p.D640Y NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 640 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TCTATGGCATCCACATTTTTT 0.448 NA 9 60 5.4927e-09 7.29032e-09 0.004482 1 0 EMX2 2018 broad.mit.edu 37 10 119305306 119305307 + Missense_Mutation DNP CC CC AA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:119305306_119305307CC>AA uc001ldh.3 + 2 1393_1394 c.570_571CC>AA c.(568-573)AGCCTC>AGAATC p.190_191SL>RI EMX2OS_uc001ldg.2_5'Flank|EMX2_uc001ldi.3_Intron NM_004098 NP_004089 Q04743 EMX2_HUMAN empty spiracles homeobox 2 isoform 1 190_191 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) TGGCACACAGCCTCAGCCTCAC 0.634 NA 3 21 0 0 0.004672 0 0 GRK5 2869 broad.mit.edu 37 10 121203194 121203194 + Missense_Mutation SNP G G T rs143962659 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:121203194G>T uc001led.2 + 12 1429 c.1196G>T c.(1195-1197)CGC>CTC p.R399L GRK5_uc009xzh.2_Missense_Mutation_p.R264L NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 399 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GAGGTGGACCGCCGGGTCCTG 0.637 NA 10 35 5.50884e-06 6.53894e-06 0.001368 1 0 BAG3 9531 broad.mit.edu 37 10 121431949 121431950 + Missense_Mutation DNP GA GA AG TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:121431949_121431950GA>AG uc001lem.2 + 3 996_997 c.690_691GA>AG c.(688-693)AAGACG>AAAGCG p.T231A BAG3_uc001lel.2_Missense_Mutation_p.T231A NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 231 anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) AAGCCCAGAAGACGCACTACCC 0.658 NA 3 64 0 0 0.004672 0 0 FAM24A 118670 broad.mit.edu 37 10 124672365 124672365 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:124672365C>A uc001lgv.2 + 3 334 c.213C>A c.(211-213)ACC>ACA p.T71T NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 71 extracellular region ovary(2) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CCAAAGCCACCACCATGGAGT 0.507 NA 28 53 1.16021e-09 1.58098e-09 0.007291 1 0 DOCK1 1793 broad.mit.edu 37 10 128824628 128824628 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:128824628A>T uc001ljt.2 + 16 1565 c.1501A>T c.(1501-1503)ATC>TTC p.I501F DOCK1_uc010qun.1_Missense_Mutation_p.I522F NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 501 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GGCCATTCCCATCGAGGACGT 0.438 NA 2 4 0 0 0.004672 0 0 PAOX 196743 broad.mit.edu 37 10 135204895 135204895 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr10:135204895G>T uc001lmv.2 + 7 1552 c.1472G>T c.(1471-1473)AGG>ATG p.R491M PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Missense_Mutation_p.E438D|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 629 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 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;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) TCGGGATGGAGGGAGGCCGAC 0.657 NA 15 72 1.52009e-12 2.30153e-12 0.003163 1 0 MUC5B 727897 broad.mit.edu 37 11 1246915 1246915 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:1246915C>T uc009ycr.1 + 18 2079 c.1953C>T c.(1951-1953)ACC>ACT p.T651T MUC5B_uc009yct.1_Silent_p.T25T|MUC5B_uc001ltb.2_Silent_p.T25T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 25 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACAGAGACCCAGGGCCCTG 0.652 NA 3 6 0 0 0.004672 0 0 TRPM5 29850 broad.mit.edu 37 11 2427906 2427906 + Missense_Mutation SNP C C G rs148532424 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:2427906C>G uc001lwm.3 - 21 3245 c.3236G>C c.(3235-3237)CGG>CCG p.R1079P TRPM5_uc010qxl.1_Missense_Mutation_p.R1079P|TRPM5_uc009ydn.2_Missense_Mutation_p.R1081P NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 1079 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGCGGTTTTCCGCAGCACCTC 0.617 NSCLC(1;49 61 17205 18850 43201) NA 11 69 0 0 0.001855 0 0 OR52M1 119772 broad.mit.edu 37 11 4567362 4567362 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:4567362G>T uc010qyf.1 + 1 942 c.942G>T c.(940-942)ATG>ATT p.M314I NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) GGATAGAAATGAAGATTAGAT 0.403 NA 7 43 5.68852e-11 8.1424e-11 0.004482 1 0 HBB 3043 broad.mit.edu 37 11 5246896 5246896 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:5246896G>T uc001mae.1 - 3 426 c.376C>A c.(376-378)CCA>ACA p.P126T NM_000518 NP_000509 P68871 HBB_HUMAN beta globin 126 blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(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) Iron Dextran(DB00893) GCCTGCACTGGTGGGGTGAAT 0.498 NA Sickle_Cell_Trait 23 55 7.41877e-09 9.79585e-09 0.001882 1 0 OR51Q1 390061 broad.mit.edu 37 11 5443936 5443936 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:5443936C>A uc010qzd.1 + 1 506 c.506C>A c.(505-507)CCT>CAT p.P169H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGCGACTGCCTTTCTGCCAC 0.512 NA 63 131 3.00063e-23 5.40854e-23 0.00361 1 0 OR52E8 390079 broad.mit.edu 37 11 5878090 5878090 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:5878090T>A uc010qzr.1 - 1 843 c.843A>T c.(841-843)TTA>TTT p.L281F TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGGTTGGCTAATATAATAT 0.393 NA 32 93 0 0 0.002096 0 0 CNGA4 1262 broad.mit.edu 37 11 6262914 6262914 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:6262914G>T uc001mco.2 + 5 1278 c.1171G>T c.(1171-1173)GGT>TGT p.G391C CNGA4_uc010raa.1_Missense_Mutation_p.G160C|CNGA4_uc001mcn.2_Missense_Mutation_p.G351C NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 391 cNMP.|Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCCGAGAGGGTCAACTGGC 0.537 NA 60 157 2.05175e-36 3.88313e-36 0.00361 1 0 DCHS1 8642 broad.mit.edu 37 11 6651268 6651268 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:6651268G>A uc001mem.1 - 10 5167 c.4757C>T c.(4756-4758)TCT>TTT p.S1586F NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1586 Cadherin 15.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCCCCGCCAGATGCCAGCCG 0.687 NA 4 14 0 0 0.000602 0 0 OR2D3 120775 broad.mit.edu 37 11 6943155 6943155 + Missense_Mutation SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:6943155T>G uc010rav.1 + 1 923 c.923T>G c.(922-924)TTG>TGG p.L308W NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 308 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATTTATAGCTTGAGGAACAAA 0.423 NA 33 68 0 0 0.002445 0 0 NLRP14 338323 broad.mit.edu 37 11 7065106 7065106 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:7065106G>T uc001mfb.1 + 4 2172 c.1849G>T c.(1849-1851)GTA>TTA p.V617L NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 617 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACATTTGCTTGTATCTTCTTT 0.403 NA 37 88 3.33393e-15 5.39981e-15 0.004878 1 0 EIF4G2 1982 broad.mit.edu 37 11 10820818 10820818 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:10820818T>C uc001mjc.2 - 20 2895 c.2478A>G c.(2476-2478)CTA>CTG p.L826L EIF4G2_uc001mjb.2_Silent_p.L620L|EIF4G2_uc009ygf.2_Silent_p.L620L|EIF4G2_uc001mjd.2_Silent_p.L788L NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 826 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CACTGACTTGTAGATCAACGT 0.438 NA 31 54 0 0 0.004289 0 0 ARNTL 406 broad.mit.edu 37 11 13378644 13378644 + Splice_Site SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:13378644G>T uc001mkr.2 + 7 629 c.221_splice c.e7+1 p.R74_splice ARNTL_uc001mko.2_Splice_Site_p.R31_splice|ARNTL_uc001mkp.2_Splice_Site_p.R74_splice|ARNTL_uc001mkq.2_Splice_Site_p.R74_splice|ARNTL_uc001mks.2_Splice_Site_p.R31_splice|ARNTL_uc001mkt.2_Splice_Site_p.R74_splice|ARNTL_uc001mku.2_Splice_Site|ARNTL_uc009ygm.1_Splice_Site_p.R31_splice|ARNTL_uc001mkv.1_Splice_Site_p.R31_splice|ARNTL_uc001mkw.2_Splice_Site_p.R31_splice|ARNTL_uc001mkx.2_Splice_Site_p.R72_splice NM_001178 NP_001169 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 Epithelial(150;0.0243) AAAATGCAAGGTAAGCTTGGA 0.413 NA 14 37 4.7546e-09 6.3519e-09 0.004007 1 0 INSC 387755 broad.mit.edu 37 11 15222397 15222397 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:15222397G>T uc001mly.2 + 7 908 c.862G>T c.(862-864)GTT>TTT p.V288F INSC_uc001mlz.2_Missense_Mutation_p.V241F|INSC_uc001mma.2_Missense_Mutation_p.V241F|INSC_uc010rcs.1_Missense_Mutation_p.V276F|INSC_uc001mmb.2_Missense_Mutation_p.V241F|INSC_uc001mmc.2_Intron NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 288 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 ACTCTTCAAGGTTTGCCGGCA 0.557 NA 10 33 3.86212e-05 4.42498e-05 0.008291 1 0 MRGPRX3 117195 broad.mit.edu 37 11 18159298 18159298 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:18159298G>T uc001mnu.2 + 3 910 c.549G>T c.(547-549)TGG>TGT p.W183C NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 183 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CAATCGCGTGGCTGGTTTTTT 0.512 NA 6 101 8.12818e-05 9.14868e-05 0.001984 1 0 LDHAL6A 160287 broad.mit.edu 37 11 18485532 18485532 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:18485532G>T uc001mop.1 + 3 412 c.151G>T c.(151-153)GTG>TTG p.V51L LDHAL6A_uc001moq.2_Missense_Mutation_p.V51L NM_001144071 NP_001137543 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 51 NAD (By similarity). glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) ACTTGTCCTTGTGGATGTTGA 0.378 NA 23 73 2.79863e-10 3.91809e-10 0.004656 1 0 KCNA4 3739 broad.mit.edu 37 11 30033943 30033943 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:30033943C>T uc001msk.2 - 2 1435 c.283G>A c.(283-285)GCC>ACC p.A95T NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 95 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGGTAGTGGGCTTTCTTCTTC 0.567 NA 17 26 0 0 0.006122 0 0 CHST1 8534 broad.mit.edu 37 11 45671409 45671409 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:45671409G>T uc001mys.1 - 4 1736 c.1065C>A c.(1063-1065)GCC>GCA p.A355A NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 355 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) TCTCGGCCGTGGCCGCCGAGT 0.672 NA 89 46 3.05217e-42 5.8305e-42 0.00361 1 0 MADD 8567 broad.mit.edu 37 11 47345865 47345865 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:47345865C>T uc001ner.1 + 32 4783 c.4592C>T c.(4591-4593)GCC>GTC p.A1531V MADD_uc001neq.2_Missense_Mutation_p.A1472V|MADD_uc001nev.1_Missense_Mutation_p.A1429V|MADD_uc001nes.1_Missense_Mutation_p.A1449V|MADD_uc001net.1_Missense_Mutation_p.A1492V|MADD_uc009yln.1_Missense_Mutation_p.A1425V|MADD_uc001neu.1_Missense_Mutation_p.A1429V|MADD_uc001nex.2_Missense_Mutation_p.A1531V|MADD_uc001nez.2_Missense_Mutation_p.A1428V|MADD_uc001new.2_Missense_Mutation_p.A1471V|MADD_uc009ylo.2_Missense_Mutation_p.A445V NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1531 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CGCGCTGCCGCCCGACAGCAA 0.587 NA 10 17 0 0 0.008291 0 0 OR4A47 403253 broad.mit.edu 37 11 48510487 48510487 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:48510487C>T uc010rhx.1 + 1 143 c.143C>T c.(142-144)ACT>ATT p.T48I NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 48 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTGACCGTAACTGTCAGTGAG 0.403 NA 5 49 0 0 0.00308 0 0 OR4A5 81318 broad.mit.edu 37 11 51411781 51411781 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:51411781C>A uc001nhi.1 - 1 615 c.615G>T c.(613-615)ATG>ATT p.M205I NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) TGAAAATGACCATACAGATTG 0.433 NA 11 42 1.08611e-07 1.37377e-07 0.000978 1 0 OR4A15 81328 broad.mit.edu 37 11 55136162 55136162 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:55136162G>T uc010rif.1 + 1 803 c.803G>T c.(802-804)TGT>TTT p.C268F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 268 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCTACACCTGTGCATCCCAC 0.423 NA 27 135 2.79863e-10 3.91809e-10 0.004656 1 0 OR4C6 219432 broad.mit.edu 37 11 55432949 55432949 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:55432949C>A uc001nht.3 + 3 572 c.307C>A c.(307-309)CAT>AAT p.H103N OR4C6_uc010rik.1_Missense_Mutation_p.H103N NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GTTTGTGGAGCATTTCTTTGG 0.532 NA 14 49 0.000219431 0.000244291 0.00245 1 0 OR5D14 219436 broad.mit.edu 37 11 55563911 55563911 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:55563911C>A uc010rim.1 + 1 880 c.880C>A c.(880-882)CTA>ATA p.L294I NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 294 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GATCTACAGCCTAAGGAATAA 0.408 NA 18 51 1.2644e-06 1.54572e-06 0.010504 1 0 OR5L2 26338 broad.mit.edu 37 11 55594726 55594726 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:55594726A>T uc001nhy.1 + 1 32 c.32A>T c.(31-33)GAG>GTG p.E11V NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) ACTGTGGCTGAGTTCATTCTC 0.428 NA HNSCC(27;0.073) 88 132 0 0 0.00361 0 0 OR5M8 219484 broad.mit.edu 37 11 56258455 56258455 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:56258455T>A uc001nix.1 - 1 392 c.392A>T c.(391-393)TAT>TTT p.Y131F NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TCTGCTGCCATAAAGCAGAGG 0.517 NA 12 55 0 0 0.001855 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995501 57995501 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:57995501A>T uc010rkd.1 - 1 847 c.847T>A c.(847-849)TAC>AAC p.Y283N NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) ACAAAGGTGTAGACCAACGCG 0.552 NA 14 83 0 0 0.001855 0 0 OR5B3 441608 broad.mit.edu 37 11 58169980 58169980 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:58169980T>A uc010rkf.1 - 1 903 c.903A>T c.(901-903)AAA>AAT p.K301N NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTCAACAACTTTCTTGAATG 0.423 NA 11 111 0 0 0.001368 0 0 OR5B12 390191 broad.mit.edu 37 11 58207585 58207585 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:58207585C>A uc010rkh.1 - 1 40 c.40G>T c.(40-42)GGG>TGG p.G14W NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCAGTTAACCCCACAAGGATG 0.438 NA 32 54 1.67305e-13 2.59856e-13 0.00623 1 0 SLC15A3 51296 broad.mit.edu 37 11 60714008 60714008 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:60714008C>G uc001nqn.2 - 2 1078 c.844G>C c.(844-846)GCC>CCC p.A282P SLC15A3_uc001nqo.2_Missense_Mutation_p.A282P NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 282 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 CCTTACCTGGCCGAGTGTCGT 0.622 NA 8 24 0 0 0.00308 0 0 RTN3 10313 broad.mit.edu 37 11 63487648 63487649 + Missense_Mutation DNP GG GG TT rs150093726 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:63487648_63487649GG>TT uc001nxq.2 + 3 1861_1862 c.1674_1675GG>TT c.(1672-1677)TTGGTC>TTTTTC p.558_559LV>FF RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.539_540LV>FF|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.446_447LV>FF|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 558_559 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 TTGAAGAATTGGTCAGTGACTC 0.406 NA 33 27 0 0 0.004672 0 0 MARK2 2011 broad.mit.edu 37 11 63666130 63666130 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:63666130G>T uc001nxw.2 + 5 967 c.388G>T c.(388-390)GAG>TAG p.E130* MARK2_uc001nxx.2_Nonsense_Mutation_p.E130*|MARK2_uc001nxy.2_Nonsense_Mutation_p.E130*|MARK2_uc001nxv.3_Nonsense_Mutation_p.E130*|MARK2_uc001nxz.3_Nonsense_Mutation_p.E97*|MARK2_uc009yoy.2_Nonsense_Mutation_p.E97* NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 130 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CCTTGTCATGGAGTACGCTAG 0.498 NA 39 41 1.00001e-27 1.82828e-27 0.009718 1 0 SF1 7536 broad.mit.edu 37 11 64537758 64537758 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:64537758T>C uc001obb.1 - 4 736 c.359A>G c.(358-360)AAT>AGT p.N120S SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.N94S|SF1_uc001oaz.1_Missense_Mutation_p.N245S|SF1_uc001oba.1_Missense_Mutation_p.N120S|SF1_uc001obc.1_Missense_Mutation_p.N120S|SF1_uc001obd.1_Missense_Mutation_p.N120S|SF1_uc001obe.1_Missense_Mutation_p.N5S|SF1_uc010rno.1_Missense_Mutation_p.N5S NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 120 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 GAAATCCGGATTGAGTGCAAC 0.547 NA 78 53 0 0 0.00361 0 0 SSSCA1 10534 broad.mit.edu 37 11 65338163 65338163 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:65338163G>A uc001oek.2 + 2 128 c.108G>A c.(106-108)CGG>CGA p.R36R FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oel.2_5'Flank NM_006396 NP_006387 O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 36 cell division|mitosis protein binding ovary(1)|skin(1) 2 GCATCTCCCGGCTCATGGGCG 0.672 NA 17 13 0 0 0.00499 0 0 FAT3 120114 broad.mit.edu 37 11 92616381 92616381 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:92616381G>T uc001pdj.3 + 23 12776 c.12759G>T c.(12757-12759)GTG>GTT p.V4253V FAT3_uc001pdi.3_Silent_p.V693V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4253 Cytoplasmic (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) ATAAGATCGTGGACGGGCTGG 0.667 NA TCGA Ovarian(4;0.039) 60 58 1.88225e-35 3.55575e-35 0.00361 1 0 FOLR4 390243 broad.mit.edu 37 11 94040669 94040669 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:94040669G>T uc010rud.1 + 4 543 c.543G>T c.(541-543)AAG>AAT p.K181N NM_001080486 NP_001073955 A6ND01 FOLR4_HUMAN folate receptor 4 (delta) homolog 188 extracellular region folic acid binding|receptor activity ovary(1) 1 TGTGTGAGAAGACTTGGAGCA 0.607 NA 15 48 1.99824e-07 2.50269e-07 0.00499 1 0 TRPC6 7225 broad.mit.edu 37 11 101375480 101375480 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:101375480C>A uc001pgk.3 - 2 645 c.220G>T c.(220-222)GAG>TAG p.E74* TRPC6_uc009ywy.2_Nonsense_Mutation_p.E74*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.E74* NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 74 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTCCCCTTCTCACGGAGAACT 0.463 Colon(166;1315 1927 11094 12848 34731) NA 62 46 2.40041e-21 4.21516e-21 0.00361 1 0 MMP12 4321 broad.mit.edu 37 11 102738758 102738758 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:102738758G>T uc001phk.2 - 6 713 c.668C>A c.(667-669)TCC>TAC p.S223Y NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 223 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AAGACCTAAGGAATGGCCAAT 0.443 NA 3 4 1.024e-07 1.30165e-07 0.000602 1 0 MMP12 4321 broad.mit.edu 37 11 102745613 102745613 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:102745613G>A uc001phk.2 - 1 100 c.55C>T c.(55-57)CTG>TTG p.L19L NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 19 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) GAGCTGTTCAGGGGAAGAGCT 0.383 NA 5 2 0 0 0.000602 0 0 CWF19L2 143884 broad.mit.edu 37 11 107219763 107219763 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:107219763G>A uc010rvp.1 - 14 2132 c.2102C>T c.(2101-2103)CCC>CTC p.P701L CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 701 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) CCGTACGTTGGGTAAACATAA 0.363 NA 5 24 0 0 0.000602 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450210 110450210 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:110450210G>A uc001pkz.1 - 16 3745 c.3460C>T c.(3460-3462)CTG>TTG p.L1154L ARHGAP20_uc001pky.1_Silent_p.L1131L|ARHGAP20_uc009yyb.1_Silent_p.L1118L|ARHGAP20_uc001pla.1_Silent_p.L1118L|ARHGAP20_uc001plb.2_Silent_p.L697L NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1154 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TCCCAAGGCAGAGAACCAGAA 0.527 NA 35 42 0 0 0.002445 0 0 ANKK1 255239 broad.mit.edu 37 11 113267990 113267990 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:113267990C>A uc001pny.2 + 6 977 c.883C>A c.(883-885)CGT>AGT p.R295S NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 295 ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GCTGCAGAGTCGTGTGGCAGT 0.602 NA 10 11 6.40141e-05 7.26916e-05 0.000978 1 0 CEP164 22897 broad.mit.edu 37 11 117209310 117209310 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:117209310G>C uc001prc.2 + 3 155 c.8G>C c.(7-9)GGA>GCA p.G3A CEP164_uc001prb.2_Missense_Mutation_p.G3A|CEP164_uc001prd.2_Missense_Mutation_p.G3A|CEP164_uc010rxj.1_Intron|CEP164_uc010rxk.1_Missense_Mutation_p.G3A NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 3 Interaction with ATRIP. 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) GTCATGGCTGGACGACCCCTC 0.502 NA 17 51 0 0 0.00499 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498933 118498933 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:118498933C>T uc001ptr.1 + 7 1747 c.1394C>T c.(1393-1395)TCC>TTC p.S465F PHLDB1_uc001pts.2_Missense_Mutation_p.S465F|PHLDB1_uc001ptt.2_Missense_Mutation_p.S465F|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.S265F|PHLDB1_uc001ptw.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 465 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCATCTCTGTCCCGGCGAGCT 0.677 NA 6 96 0 0 0.001168 0 0 VSIG2 23584 broad.mit.edu 37 11 124618406 124618406 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:124618406C>T uc001qas.2 - 6 807 c.731G>A c.(730-732)GGA>GAA p.G244E VSIG2_uc001qat.2_Missense_Mutation_p.G244E NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 244 Helical; (Potential). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) AATCAGAGCTCCGGCCACTCG 0.592 NA 18 18 0 0 0.006122 0 0 HEPN1 641654 broad.mit.edu 37 11 124789651 124789651 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:124789651G>A uc001qbj.1 + 1 506 c.5G>A c.(4-6)GGT>GAT p.G2D HEPACAM_uc009zbj.2_3'UTR|HEPACAM_uc001qbk.2_3'UTR NM_001037558 NP_001032647 Q6WQI6 HEPN1_HUMAN HEPACAM opposite strand 1 2 cytoplasm 0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) GAGGTGATGGGTAACTGGGGC 0.542 NA 19 20 0 0 0.010504 0 0 DYRK4 8798 broad.mit.edu 37 12 4700362 4700362 + Missense_Mutation SNP C C A rs111557443 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:4700362C>A uc001qmx.2 + 3 176 c.16C>A c.(16-18)CTC>ATC p.L6I DYRK4_uc009zeh.1_Missense_Mutation_p.L121I|DYRK4_uc001qmy.1_Missense_Mutation_p.L6I NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 6 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) GGCCTCAGAGCTCAAGGCTTC 0.483 NA 23 17 7.33532e-06 8.68679e-06 0.003954 1 0 DDX12 440081 broad.mit.edu 37 12 9580280 9580280 + Silent SNP A A G rs146037854 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:9580280A>G uc010sgs.1 - 14 1626 c.1431T>C c.(1429-1431)ACT>ACC p.T477T NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 AGTCGTTGATAGTCTTCAGCT 0.493 NA 5 39 0 0 0.004482 0 0 ETV6 2120 broad.mit.edu 37 12 12037475 12037475 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:12037475G>T uc001qzz.2 + 6 1380 c.1106G>T c.(1105-1107)CGG>CTG p.R369L ETV6_uc001raa.1_Intron NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 369 ETS. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) AAAATATTCCGGATAGTGGAT 0.458 NA T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 74 36 9.07738e-34 1.70849e-33 0.00361 1 0 MGST1 4257 broad.mit.edu 37 12 16510579 16510579 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:16510579G>T uc001rdf.2 + 3 232 c.167G>T c.(166-168)GGA>GTA p.G56V MGST1_uc001rdg.2_Missense_Mutation_p.G56V|MGST1_uc009zih.1_RNA|MGST1_uc001rdh.2_Missense_Mutation_p.G56V|MGST1_uc001rdi.2_Missense_Mutation_p.G56V NM_145792 NP_665735 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 56 Cytoplasmic (By similarity). protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity 0 Hepatocellular(102;0.121) Glutathione(DB00143) TTTGGCAAAGGAGAAAATGCC 0.313 NA 16 32 5.35267e-07 6.62279e-07 0.007413 1 0 ARID2 196528 broad.mit.edu 37 12 46233111 46233111 + Splice_Site SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:46233111G>T uc001ros.1 + 11 1331 c.1331_splice c.e11-1 p.D444_splice ARID2_uc001ror.2_Splice_Site_p.D444_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Intron|ARID2_uc001rot.1_Splice_Site_p.D90_splice NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATTTATTTTAGACATGTTAGT 0.333 NA 14 46 1.05317e-09 1.43896e-09 0.00245 1 0 SLC38A1 81539 broad.mit.edu 37 12 46592512 46592513 + Missense_Mutation DNP CG CG AA rs138242331 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:46592512_46592513CG>AA uc001rpa.2 - 14 1275_1276 c.1017_1018CG>TT c.(1015-1020)TCCGAC>TCTTAC p.D340Y SLC38A1_uc001rpb.2_Missense_Mutation_p.D340Y|SLC38A1_uc001rpc.2_Missense_Mutation_p.D340Y|SLC38A1_uc001rpd.2_Missense_Mutation_p.D340Y|SLC38A1_uc001rpe.2_Missense_Mutation_p.D340Y|SLC38A1_uc009zkj.1_Missense_Mutation_p.D340Y NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 340 Extracellular (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TGAAGGAGGTCGGACTGCACGT 0.406 NA 37 57 0 0 0.004672 0 0 MLL2 8085 broad.mit.edu 37 12 49444341 49444341 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:49444341C>T uc001rta.3 - 11 3030 c.3030G>A c.(3028-3030)GGG>GGA p.G1010G NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1010 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GAGAAGCCGGCCCCACTGGGG 0.612 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 33 36 0 0 0.006999 0 0 CELA1 1990 broad.mit.edu 37 12 51737560 51737560 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:51737560C>A uc001ryi.1 - 3 218 c.177G>T c.(175-177)ATG>ATT p.M59I NM_001971 NP_001962 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 59 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity breast(1) 1 GAGCAGCTGTCATCACCCAGT 0.498 NA 6 22 2.7689e-08 3.58658e-08 0.001984 1 0 KRT75 9119 broad.mit.edu 37 12 52818493 52818493 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:52818493G>T uc001saj.2 - 9 1486 c.1464C>A c.(1462-1464)AGC>AGA p.S488R NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 488 Tail. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) CACCTCCAATGCTGCTGCCGC 0.602 NA 51 39 4.78724e-31 8.92803e-31 0.00361 1 0 KRT6B 3854 broad.mit.edu 37 12 52843562 52843563 + Missense_Mutation DNP GG GG TT TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:52843562_52843563GG>TT uc001sak.2 - 4 939_940 c.891_892CC>AA c.(889-894)TTCCTG>TTAATG p.297_298FL>LM NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 297_298 Coil 1B.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) AAGGCTCTCAGGAAGTTGATCT 0.5 NA 43 94 0 0 0.004672 0 0 KRT5 3852 broad.mit.edu 37 12 52913777 52913777 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:52913777C>T uc001san.2 - 1 467 c.304G>A c.(304-306)GGT>AGT p.G102S KRT5_uc009zmh.2_Missense_Mutation_p.G102S NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 102 Head.|Gly-rich. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) aatccactaccggcaccacct 0.249 NA 5 69 0 0 0.000602 0 0 LRP1 4035 broad.mit.edu 37 12 57572802 57572802 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:57572802A>G uc001snd.2 + 28 5202 c.4736A>G c.(4735-4737)TAT>TGT p.Y1579C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1579 EGF-like 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACCACCTGCTATGGTAGGAGC 0.632 NA 40 77 0 0 0.009718 0 0 LRP1 4035 broad.mit.edu 37 12 57606328 57606328 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:57606328C>T uc001snd.2 + 89 14091 c.13625C>T c.(13624-13626)CCC>CTC p.P4542L NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4542 Cytoplasmic (Potential).|Interaction with MAFB (By similarity). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATAGGGGACCCCTTGGCATAG 0.677 NA 12 35 0 0 0.001368 0 0 GLI1 2735 broad.mit.edu 37 12 57864471 57864471 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:57864471G>T uc001snx.2 + 12 2026 c.1948G>T c.(1948-1950)GCT>TCT p.A650S GLI1_uc009zpq.2_Missense_Mutation_p.A522S NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 650 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) TGACCGTCCTGCTCCAGCTAG 0.612 Pancreas(157;841 1936 10503 41495 50368) NA 11 41 3.86212e-05 4.42498e-05 0.008291 1 0 XPOT 11260 broad.mit.edu 37 12 64815186 64815186 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:64815186G>C uc001ssb.2 + 9 1441 c.1015G>C c.(1015-1017)GAG>CAG p.E339Q XPOT_uc009zqm.1_Missense_Mutation_p.E249Q NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 339 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) ACTAATTCATGAGGATGATGA 0.299 NA 34 93 0 0 0.002836 0 0 LGR5 8549 broad.mit.edu 37 12 71966695 71966695 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:71966695G>T uc001swl.2 + 13 1250 c.1202G>T c.(1201-1203)CGA>CTA p.R401L LGR5_uc001swm.2_Missense_Mutation_p.R377L|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 401 LRR 15.|Extracellular (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 CTTAGCCTCCGATCGCTGTGA 0.423 NA 23 73 7.07758e-08 9.05292e-08 0.004656 1 0 NAV3 89795 broad.mit.edu 37 12 78583961 78583961 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:78583961G>T uc001syp.2 + 34 6426 c.6253G>T c.(6253-6255)GCA>TCA p.A2085S NAV3_uc001syo.2_Missense_Mutation_p.A2063S|NAV3_uc010sub.1_Missense_Mutation_p.A1542S|NAV3_uc009zsf.2_Missense_Mutation_p.A894S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2085 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AACAGAGGATGCAATTGCCAC 0.353 NA HNSCC(70;0.22) 22 25 1.22574e-08 1.61016e-08 0.002299 1 0 MYF6 4618 broad.mit.edu 37 12 81101537 81101537 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:81101537C>A uc001szf.1 + 1 92 c.39C>A c.(37-39)TTC>TTA p.F13L NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 13 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CCTATTTCTTCTACTTGGATG 0.493 NA 9 88 3.86212e-05 4.42498e-05 0.008291 1 0 PPFIA2 8499 broad.mit.edu 37 12 81734915 81734915 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:81734915G>T uc001szo.1 - 20 2496 c.2335C>A c.(2335-2337)CCT>ACT p.P779T PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 705 ovary(3)|lung(2)|pancreas(1) 6 AGGGCTCTAGGGGTAGGAGGA 0.453 NA 10 47 0.00136819 0.00148597 0.001368 1 0 PPFIA2 8499 broad.mit.edu 37 12 81751860 81751860 + Splice_Site SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:81751860C>G uc001szo.1 - 16 1934 c.1773_splice c.e16+1 p.K591_splice PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 ovary(3)|lung(2)|pancreas(1) 6 AAAAGATTAACCTTTGGCTCA 0.358 NA 2 13 0 0 0.004672 0 0 SLC6A15 55117 broad.mit.edu 37 12 85260837 85260837 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:85260837A>T uc001szv.2 - 10 2124 c.1631T>A c.(1630-1632)GTA>GAA p.V544E SLC6A15_uc010sul.1_Missense_Mutation_p.V437E|SLC6A15_uc001szw.1_Missense_Mutation_p.V252E|uc001szx.2_5'Flank NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 544 Helical; Name=10; (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 AACAAAGCATACAGCAATATT 0.294 NA 10 27 0 0 0.001368 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85623409 85623409 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:85623409G>C uc001tac.2 + 25 5048 c.4937G>C c.(4936-4938)AGT>ACT p.S1646T NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1646 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GAAACGACTAGTTCCAGAAAT 0.343 NA 13 53 0 0 0.003163 0 0 UTP20 27340 broad.mit.edu 37 12 101748667 101748667 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:101748667A>G uc001tia.1 + 41 5321 c.5165A>G c.(5164-5166)GAT>GGT p.D1722G NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1722 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GAGCGTGTGGATGAGGAAGAG 0.433 NA 41 39 0 0 0.006999 0 0 STAB2 55576 broad.mit.edu 37 12 104126897 104126897 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:104126897C>A uc001tjw.2 + 51 5583 c.5397C>A c.(5395-5397)TTC>TTA p.F1799L STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1799 Extracellular (Potential).|FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ACTTCCTGTTCAACCAAGACA 0.478 NA 89 101 6.01484e-32 1.12585e-31 0.00361 1 0 ACACB 32 broad.mit.edu 37 12 109605836 109605836 + Missense_Mutation SNP G G T rs78715638 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:109605836G>T uc001tob.2 + 4 1041 c.922G>T c.(922-924)GCA>TCA p.A308S ACACB_uc001toc.2_Missense_Mutation_p.A308S NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 308 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TAAGGCCAACGCAGGTACCTG 0.627 NA 5 34 3.59834e-05 4.1695e-05 0.001168 1 0 CUX2 23316 broad.mit.edu 37 12 111748370 111748370 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:111748370C>A uc001tsa.1 + 15 1937 c.1784C>A c.(1783-1785)CCC>CAC p.P595H NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 595 CUT 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CTAGCCCGGCCCAAGCCCTGG 0.602 NA 39 59 1.07121e-22 1.91394e-22 0.006999 1 0 CIT 11113 broad.mit.edu 37 12 120159163 120159163 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:120159163A>G uc001txi.1 - 28 3610 c.3557T>C c.(3556-3558)CTA>CCA p.L1186P CIT_uc001txh.1_Missense_Mutation_p.L720P|CIT_uc001txj.1_Missense_Mutation_p.L1228P NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1186 Potential.|Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGTCTTCAGTAGATCAGCCCG 0.448 NA 19 86 0 0 0.010504 0 0 RNF10 9921 broad.mit.edu 37 12 121001251 121001251 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:121001251G>A uc001typ.3 + 9 1839 c.1356G>A c.(1354-1356)GAG>GAA p.E452E RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.E363E NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 452 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAGAAGAGGAGGAAGCAGTGT 0.507 NA 20 58 0 0 0.010504 0 0 HPD 3242 broad.mit.edu 37 12 122284813 122284813 + Silent SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:122284813A>T uc001ubj.2 - 11 826 c.786T>A c.(784-786)GCT>GCA p.A262A HPD_uc001ubk.2_Silent_p.A223A NM_002150 NP_002141 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 262 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GCTGGACCCCAGCGCCCCCGT 0.567 NA 10 23 0 0 0.001368 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:123780522G>A uc010tap.1 - 31 4115 c.4115C>T c.(4114-4116)GCG>GTG p.A1372V SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.A1371V|SBNO1_uc010taq.1_Missense_Mutation_p.A323V NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1372 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433 NA 6 342 0 0 0.001168 0 0 DNAH10 196385 broad.mit.edu 37 12 124268652 124268652 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:124268652C>A uc001uft.3 + 8 1000 c.975C>A c.(973-975)ACC>ACA p.T325T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 325 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAGTGTTCACCGAGTTATTCA 0.488 NA 38 64 2.66277e-13 4.12325e-13 0.006999 1 0 NCOR2 9612 broad.mit.edu 37 12 124824595 124824595 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:124824595C>A uc010tay.1 - 39 5830 c.5674G>T c.(5674-5676)GGT>TGT p.G1892C NCOR2_uc010taz.1_Missense_Mutation_p.G1876C|NCOR2_uc010tax.1_Missense_Mutation_p.G3C NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 1893 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTGATGATACCCTTCATGCCT 0.517 NA 33 42 2.20474e-14 3.50972e-14 0.003755 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184920 130184920 + Silent SNP G G T rs138159153 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:130184920G>T uc009zyl.1 - 2 731 c.403C>A c.(403-405)CGG>AGG p.R135R NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 135 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACTTTGTCCCGCAGGATGTGG 0.537 NA 20 27 8.34094e-07 1.02089e-06 0.008871 1 0 SHISA2 387914 broad.mit.edu 37 13 26621089 26621089 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:26621089C>A uc001uqm.1 - 2 535 c.450G>T c.(448-450)CAG>CAT p.Q150H NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 150 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 CTCGGCTCTGCTGGGGATCCT 0.622 NA 10 25 1.58986e-06 1.93433e-06 0.008291 1 0 FLT1 2321 broad.mit.edu 37 13 28877397 28877397 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:28877397G>T uc001usb.3 - 30 4209 c.3924C>A c.(3922-3924)ACC>ACA p.T1308T FLT1_uc010aap.2_Silent_p.T313T|FLT1_uc010aaq.2_Silent_p.T433T|FLT1_uc001usa.3_Silent_p.T526T NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1308 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CGTGGTCGTAGGTGAACCTGC 0.572 NA 9 101 4.68919e-08 6.03571e-08 0.008291 1 0 FRY 10129 broad.mit.edu 37 13 32783010 32783010 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:32783010A>T uc001utx.2 + 32 4535 c.4039A>T c.(4039-4041)ACA>TCA p.T1347S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1347 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCGATTCCCCACAACACACCC 0.527 NA 10 73 0 0 0.008291 0 0 BRCA2 675 broad.mit.edu 37 13 32937491 32937491 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:32937491A>G uc001uub.1 + 18 8379 c.8152A>G c.(8152-8154)ATT>GTT p.I2718V NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2718 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) AAAAGTGGCCATTATTGAACT 0.398 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_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) 40 219 0 0 0.002852 0 0 WBP4 11193 broad.mit.edu 37 13 41636824 41636824 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:41636824G>A uc001uxt.2 + 2 160 c.47G>A c.(46-48)TGC>TAC p.C16Y WBP4_uc010tfd.1_Missense_Mutation_p.C16Y NM_007187 NP_009118 O75554 WBP4_HUMAN WW domain-containing binding protein 4 16 Matrin-type. nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|kidney(1) 3 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) TGTGATTACTGCAAGTGCTGG 0.368 NA 6 112 0 0 0.00308 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559724 46559724 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:46559724C>A uc010tfw.1 - 9 1434 c.1428G>T c.(1426-1428)ATG>ATT p.M476I ZC3H13_uc001vas.1_Missense_Mutation_p.M476I|ZC3H13_uc001vat.1_Missense_Mutation_p.M476I NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 476 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TTGAGTCCCGCATGTCTCTGG 0.527 Esophageal Squamous(187;747 2077 11056 31291 44172) NA 9 273 3.07112e-06 3.68823e-06 0.000978 1 0 PCDH8 5100 broad.mit.edu 37 13 53420300 53420300 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:53420300C>A uc001vhi.2 - 1 2475 c.2272G>T c.(2272-2274)GGG>TGG p.G758W PCDH8_uc001vhj.2_Missense_Mutation_p.G758W NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 758 Helical; (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GTGCAGCTCCCGGCCAGCACG 0.687 GBM(36;25 841 9273 49207) NA 37 27 2.40579e-17 4.05729e-17 0.00623 1 0 PCDH8 5100 broad.mit.edu 37 13 53420511 53420511 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:53420511C>A uc001vhi.2 - 1 2264 c.2061G>T c.(2059-2061)AGG>AGT p.R687S PCDH8_uc001vhj.2_Missense_Mutation_p.R687S NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 687 Extracellular (Potential).|Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCAGGAGCGCCCTGAACACGC 0.716 GBM(36;25 841 9273 49207) NA 12 3 0.000978159 0.00106576 0.000978 1 0 SLITRK1 114798 broad.mit.edu 37 13 84455480 84455480 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:84455480C>A uc001vlk.2 - 1 1049 c.163G>T c.(163-165)GCC>TCC p.A55S NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 55 LRRNT.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAAGTCGGGGCAGTGAAACGC 0.443 NA 38 43 1.02591e-13 1.60563e-13 0.002522 1 0 GPC5 2262 broad.mit.edu 37 13 93518679 93518679 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:93518679C>A uc010tif.1 + 8 2072 c.1706C>A c.(1705-1707)CCC>CAC p.P569H NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 569 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATGTTACTTCCCGGGATTTGG 0.433 NA 38 53 2.05212e-20 3.57895e-20 0.005524 1 0 DCT 1638 broad.mit.edu 37 13 95095718 95095718 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:95095718A>G uc001vlv.3 - 7 1780 c.1353T>C c.(1351-1353)CTT>CTC p.L451L DCT_uc010afh.2_Silent_p.L484L NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 451 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AGCTGTAGCCAAGTTGGTCTG 0.433 NA 33 21 0 0 0.004878 0 0 NALCN 259232 broad.mit.edu 37 13 101890223 101890223 + Nonsense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:101890223A>T uc001vox.1 - 12 1506 c.1317T>A c.(1315-1317)TGT>TGA p.C439* NALCN_uc001voy.2_Nonsense_Mutation_p.C154*|NALCN_uc001voz.2_Nonsense_Mutation_p.C439*|NALCN_uc001vpa.2_Nonsense_Mutation_p.C439* NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 439 Helical; Name=S2 of repeat II; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAAATCCCAAACACCATATCT 0.328 NA 39 35 0 0 0.004878 0 0 KDELC1 79070 broad.mit.edu 37 13 103446052 103446052 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:103446052C>A uc001vpq.3 - 3 877 c.493G>T c.(493-495)GCA>TCA p.A165S KDELC1_uc001vpr.3_5'UTR NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 165 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGGAAATGTGCCAGATCTCTC 0.463 NA 80 93 9.11151e-29 1.6839e-28 0.00361 1 0 MYO16 23026 broad.mit.edu 37 13 109379843 109379843 + Missense_Mutation SNP A A T rs141525847 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:109379843A>T uc001vqt.1 + 4 479 c.353A>T c.(352-354)AAC>ATC p.N118I MYO16_uc010agk.1_Missense_Mutation_p.N140I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 118 ANK 2. 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 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) AGAGGAGTCAACGTCAACCAC 0.408 NA 5 140 0 0 0.000602 0 0 OR4K13 390433 broad.mit.edu 37 14 20502863 20502863 + Nonsense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:20502863T>A uc010tkz.1 - 1 55 c.55A>T c.(55-57)AAA>TAA p.K19* NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TTTTGAGATTTGGAAAGTCCC 0.383 NA 18 30 0 0 0.008871 0 0 TEP1 7011 broad.mit.edu 37 14 20876106 20876106 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:20876106C>A uc001vxe.2 - 2 533 c.493G>T c.(493-495)GGA>TGA p.G165* TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Nonsense_Mutation_p.G165* NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 165 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGGTCTAGTCCCTTAGAGAAA 0.488 NA 63 165 2.60599e-31 4.86896e-31 0.00361 1 0 ACIN1 22985 broad.mit.edu 37 14 23530581 23530581 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:23530581C>A uc001wit.3 - 17 3852 c.3524G>T c.(3523-3525)CGT>CTT p.R1175L ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R417L|ACIN1_uc001wiq.3_Missense_Mutation_p.R417L|ACIN1_uc001wir.3_Missense_Mutation_p.R448L|ACIN1_uc001wis.3_Missense_Mutation_p.R856L|ACIN1_uc010akg.2_Missense_Mutation_p.R1162L NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1175 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TGATCGGGAACGGGGCCCTTC 0.577 NA 23 78 6.44725e-10 8.94042e-10 0.002299 1 0 ACIN1 22985 broad.mit.edu 37 14 23531687 23531687 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:23531687T>A uc001wit.3 - 15 3431 c.3103A>T c.(3103-3105)ACA>TCA p.T1035S ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.T277S|ACIN1_uc001wiq.3_Missense_Mutation_p.T277S|ACIN1_uc001wir.3_Missense_Mutation_p.T308S|ACIN1_uc001wis.3_Missense_Mutation_p.T716S|ACIN1_uc010akg.2_Missense_Mutation_p.T1022S NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1035 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AAGGTTCCTGTGCGCCCCAAC 0.478 NA 45 191 0 0 0.00361 0 0 MYH7 4625 broad.mit.edu 37 14 23893161 23893161 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:23893161C>G uc001wjx.2 - 23 2983 c.2877G>C c.(2875-2877)CTG>CTC p.L959L NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 959 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGCCAGTGTCAGCTCCAGAT 0.537 NA 17 67 0 0 0.006122 0 0 LRRC16B 90668 broad.mit.edu 37 14 24538064 24538064 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:24538064C>A uc001wlj.2 + 38 4028 c.3871C>A c.(3871-3873)CAG>AAG p.Q1291K LRRC16B_uc001wlk.2_Missense_Mutation_p.Q344K|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1291 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CCAGCCTCCCCAGGAGCCAGG 0.647 NA 5 13 8.12818e-05 9.14868e-05 0.001984 1 0 IPO4 79711 broad.mit.edu 37 14 24655132 24655132 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:24655132C>T uc001wmv.1 - 12 1235 c.1104G>A c.(1102-1104)CAG>CAA p.Q368Q IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.Q30Q|IPO4_uc001wmx.1_Silent_p.Q232Q|IPO4_uc001wmy.1_Silent_p.Q232Q|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.Q368Q NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 368 HEAT 1. intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) CAGCTTTGCGCTGGTATGGGC 0.602 NA 5 42 0 0 0.00308 0 0 MDGA2 161357 broad.mit.edu 37 14 47566251 47566251 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:47566251A>T uc001wwj.3 - 6 990 c.794T>A c.(793-795)GTT>GAT p.V265D MDGA2_uc001wwi.3_Missense_Mutation_p.V36D|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 265 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TCCTGTTGTAACACATACTAA 0.438 NA 9 91 0 0 0.008291 0 0 SOS2 6655 broad.mit.edu 37 14 50626482 50626482 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:50626482C>T uc001wxs.3 - 10 1617 c.1519G>A c.(1519-1521)GAG>AAG p.E507K SOS2_uc010tql.1_Missense_Mutation_p.E474K|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.E195K NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 507 PH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TGCTTGTGCTCACAAGTATCT 0.373 NA 20 84 0 0 0.007413 0 0 GNG2 54331 broad.mit.edu 37 14 52433353 52433353 + Missense_Mutation SNP C C T rs139067662 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:52433353C>T uc001wzi.2 + 4 693 c.164C>T c.(163-165)CCG>CTG p.P55L GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.P55L NM_053064 NP_444292 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), 55 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity 0 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) ACCCCTGTTCCGGCTTCAGAA 0.527 NA 37 99 0 0 0.005524 0 0 PELI2 57161 broad.mit.edu 37 14 56645093 56645093 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:56645093A>G uc001xch.2 + 2 404 c.118A>G c.(118-120)AAA>GAA p.K40E NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 40 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 AGGACGGAGGAAAAGTAGATT 0.468 NA 13 64 0 0 0.003163 0 0 ZBTB25 7597 broad.mit.edu 37 14 64953726 64953726 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:64953726C>A uc001xhf.2 - 3 1406 c.1223G>T c.(1222-1224)CGC>CTC p.R408L ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.R408L NM_006977 NP_008908 P24278 ZBT25_HUMAN zinc finger protein 46 408 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TTGTGACAAGCGAGAACTTTT 0.443 NA 36 57 3.21399e-22 5.70261e-22 0.004878 1 0 ADCK1 57143 broad.mit.edu 37 14 78397954 78397954 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:78397954A>G uc001xui.2 + 10 1399 c.1300A>G c.(1300-1302)ACC>GCC p.T434A ADCK1_uc001xuj.2_Missense_Mutation_p.T366A|ADCK1_uc001xul.2_Missense_Mutation_p.T141A NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 441 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CATCTTGAAGACCAACGACCT 0.602 NA 9 22 0 0 0.004482 0 0 TTC7B 145567 broad.mit.edu 37 14 91007748 91007748 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:91007748G>T uc001xyp.2 - 20 2618 c.2496C>A c.(2494-2496)CCC>CCA p.P832P TTC7B_uc001xyo.2_Silent_p.P276P|TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 832 binding ovary(2) 2 Melanoma(154;0.222) AGGGCACGGCGGGGCTGCTGG 0.697 NA 8 7 3.86212e-05 4.42498e-05 0.008291 1 0 SERPINA9 327657 broad.mit.edu 37 14 94933527 94933527 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:94933527G>A uc001ydf.2 - 3 1036 c.875C>T c.(874-876)CCT>CTT p.P292L SERPINA9_uc001yde.2_Missense_Mutation_p.P192L|SERPINA9_uc010avc.2_Missense_Mutation_p.P143L|SERPINA9_uc001ydg.2_Missense_Mutation_p.P256L|SERPINA9_uc001ydh.1_Missense_Mutation_p.P292L|SERPINA9_uc001ydi.1_Missense_Mutation_p.P256L NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 274 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GCCCTTGCTAGGGAGGACAAA 0.522 NA 19 40 0 0 0.008871 0 0 DLK1 8788 broad.mit.edu 37 14 101201093 101201093 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:101201093C>A uc001yhs.3 + 5 1165 c.1012C>A c.(1012-1014)CGC>AGC p.R338S DLK1_uc001yhu.3_Missense_Mutation_p.R265S NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 338 Cytoplasmic (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) GTCCAACCTGCGCTACAACCA 0.572 NA 17 47 5.3912e-06 6.41421e-06 0.006122 1 0 ADAM6 8755 broad.mit.edu 37 14 106208133 106208133 + Splice_Site SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:106208133C>G uc010tyt.1 - 3628 c.58985_splice c.e3628-1 uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Splice_Site_p.G90_splice|uc001ysf.2_Splice_Site_p.G90_splice Parts of antibodies, mostly variable regions. 0 CGGGGCTGCCCTGTAGGGACA 0.642 NA 6 146 0 0 0.001168 0 0 C15orf2 23742 broad.mit.edu 37 15 24923730 24923730 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:24923730G>T uc001ywo.2 + 1 3190 c.2716G>T c.(2716-2718)GGG>TGG p.G906W NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 906 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGCCACTGATGGGCAGCAGAA 0.502 NA 34 46 8.4185e-14 1.32161e-13 0.002445 1 0 GABRB3 2562 broad.mit.edu 37 15 26812800 26812800 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:26812800T>C uc001zaz.2 - 7 905 c.763A>G c.(763-765)ATA>GTA p.I255V GABRB3_uc010uae.1_Missense_Mutation_p.I170V|GABRB3_uc001zba.2_Missense_Mutation_p.I255V|GABRB3_uc001zbb.2_Missense_Mutation_p.I311V NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 255 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTTATCAGTATAGAGGGCATA 0.423 NA 19 19 0 0 0.008871 0 0 OCA2 4948 broad.mit.edu 37 15 28000591 28000591 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:28000591G>T uc001zbh.3 - 24 2570 c.2460C>A c.(2458-2460)TCC>TCA p.S820S OCA2_uc010ayv.2_Silent_p.S796S NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 820 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CAACAGTGCAGGACACAACCA 0.433 NA Oculocutaneous_Albinism 6 25 5.18039e-06 6.17778e-06 0.00308 1 0 RYR3 6263 broad.mit.edu 37 15 34015043 34015043 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:34015043G>C uc001zhi.2 + 44 6817 c.6747G>C c.(6745-6747)AAG>AAC p.K2249N RYR3_uc010bar.2_Missense_Mutation_p.K2249N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2249 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTGCCATTAAGATCTCTGAGA 0.577 NA 43 54 0 0 0.003214 0 0 SPRED1 161742 broad.mit.edu 37 15 38591588 38591588 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:38591588G>T uc001zka.3 + 2 382 c.47G>T c.(46-48)CGA>CTA p.R16L NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 16 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AGTTATGCACGAGTGCGAGCT 0.438 Melanoma(196;2146 2959 7698 16532) NA Legius_syndrome 4 55 0.00909568 0.00956356 0.009096 1 0 ZSCAN29 146050 broad.mit.edu 37 15 43658617 43658617 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:43658617G>C uc001zrk.1 - 3 1060 c.913C>G c.(913-915)CTC>GTC p.L305V ZSCAN29_uc001zrj.1_Missense_Mutation_p.L185V|ZSCAN29_uc010bdf.1_Missense_Mutation_p.L304V|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.L304V NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 305 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CTCTTCTGGAGACCTTTGAAC 0.562 NA 8 60 0 0 0.00308 0 0 SEMA6D 80031 broad.mit.edu 37 15 48052531 48052531 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:48052531G>A uc010bek.2 + 3 500 c.140G>A c.(139-141)CGC>CAC p.R47H SEMA6D_uc001zvw.2_Missense_Mutation_p.R47H|SEMA6D_uc001zvx.1_Missense_Mutation_p.R47H|SEMA6D_uc001zvy.2_Missense_Mutation_p.R47H|SEMA6D_uc001zvz.2_Missense_Mutation_p.R47H|SEMA6D_uc001zwa.2_Missense_Mutation_p.R47H|SEMA6D_uc001zwb.2_Missense_Mutation_p.R47H|SEMA6D_uc001zwc.2_Missense_Mutation_p.R47H NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 47 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TTTAGAGGACGCCCTTCAGGC 0.423 NA 14 28 0 0 0.00245 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063041 48063041 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:48063041C>G uc010bek.2 + 19 2641 c.2281C>G c.(2281-2283)CAT>GAT p.H761D SEMA6D_uc001zvw.2_Missense_Mutation_p.H699D|SEMA6D_uc001zvy.2_Missense_Mutation_p.H761D|SEMA6D_uc001zvz.2_Missense_Mutation_p.H705D|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.H699D|SEMA6D_uc001zwc.2_Missense_Mutation_p.H686D NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 761 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGTAATGGACCATCGAGGGCA 0.478 NA 12 32 0 0 0.001855 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063050 48063050 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:48063050C>A uc010bek.2 + 19 2650 c.2290C>A c.(2290-2292)CAA>AAA p.Q764K SEMA6D_uc001zvw.2_Missense_Mutation_p.Q702K|SEMA6D_uc001zvy.2_Missense_Mutation_p.Q764K|SEMA6D_uc001zvz.2_Missense_Mutation_p.Q708K|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.Q702K|SEMA6D_uc001zwc.2_Missense_Mutation_p.Q689K NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 764 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CCATCGAGGGCAACCTCCAGA 0.498 NA 16 26 1.5739e-10 2.23406e-10 0.004007 1 0 SLC27A2 11001 broad.mit.edu 37 15 50515330 50515330 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:50515330G>T uc001zxw.2 + 5 1373 c.1141G>T c.(1141-1143)GTT>TTT p.V381F SLC27A2_uc010bes.2_Missense_Mutation_p.V328F|SLC27A2_uc001zxx.2_Missense_Mutation_p.V146F NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 381 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGTTGGTGCTGTTGGAAGAGT 0.373 NA 4 38 2.56e-06 3.08893e-06 0.009096 1 0 UNC13C 440279 broad.mit.edu 37 15 54305103 54305103 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:54305103G>T uc002ack.2 + 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGCTCTCCATGGTGGCTAATT 0.358 NA 7 30 0.000157383 0.000175596 0.00308 1 0 NEDD4 4734 broad.mit.edu 37 15 56142806 56142807 + Missense_Mutation DNP CC CC AA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:56142806_56142807CC>AA uc002adj.2 - 10 2837_2838 c.2537_2538GG>TT c.(2536-2538)TGG>TTT p.W846F NEDD4_uc002adl.2_Missense_Mutation_p.W427F|NEDD4_uc002adi.2_Missense_Mutation_p.W774F|NEDD4_uc010ugj.1_Missense_Mutation_p.W830F|NEDD4_uc010bfm.2_Missense_Mutation_p.W829F|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 846 Mediates interaction with TNIK (By similarity).|WW 3. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GCCGGACTTCCCAGCCTTTAGG 0.47 NA 62 123 0 0 0.004672 0 0 TLN2 83660 broad.mit.edu 37 15 63004131 63004131 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:63004131G>T uc002alb.3 + 19 2489 c.2489G>T c.(2488-2490)CGG>CTG p.R830L NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 830 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CGCCAGGCGCGGGTTCTGGCC 0.507 NA 13 24 1.5842e-08 2.06776e-08 0.001855 1 0 IGDCC4 57722 broad.mit.edu 37 15 65702613 65702614 + Nonsense_Mutation DNP CC CC AA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:65702613_65702614CC>AA uc002aou.1 - 3 675_676 c.465_466GG>TT c.(463-468)GAGGAG>GATTAG p.155_156EE>D* NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 155_156 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GTCCCGTTCTCCTCCACCGTCT 0.579 NA 9 38 0 0 0.004672 0 0 SMAD3 4088 broad.mit.edu 37 15 67457257 67457257 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:67457257G>T uc002aqj.2 + 2 529 c.231G>T c.(229-231)GTG>GTT p.V77V SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.V33V|SMAD3_uc010ujt.1_5'Flank NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 77 MH1. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GGTTGCAGGTGTCCCATCGGA 0.617 NA 16 203 7.07596e-05 8.00845e-05 0.006122 1 0 ITGA11 22801 broad.mit.edu 37 15 68628073 68628073 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:68628073G>T uc002ari.2 - 12 1474 c.1387C>A c.(1387-1389)CGG>AGG p.R463R ITGA11_uc010bib.2_Silent_p.R463R NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 463 FG-GAP 4.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GTGAGGCTCCGGTTGTTGTGC 0.647 NA 3 10 2.56e-06 3.08893e-06 0.009096 1 0 TMEM202 338949 broad.mit.edu 37 15 72691081 72691081 + Nonsense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:72691081C>T uc002auq.2 + 2 169 c.169C>T c.(169-171)CGA>TGA p.R57* TMEM202_uc002aur.2_Intron NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 57 Helical; (Potential). integral to membrane central_nervous_system(1)|skin(1) 2 CATCTACATCCGAACGCTCTG 0.517 NA 7 36 0 0 0.00308 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181089 81181089 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:81181089G>C uc002bfw.1 + 8 1176 c.916G>C c.(916-918)GAG>CAG p.E306Q KIAA1199_uc010unn.1_Missense_Mutation_p.E306Q NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 306 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GTTCCAGACAGAGCATGGCGA 0.473 NA 10 122 0 0 0.001855 0 0 IL16 3603 broad.mit.edu 37 15 81584983 81584983 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:81584983G>T uc002bgh.3 + 12 1883 c.1507G>T c.(1507-1509)GCT>TCT p.A503S IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.A503S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A545S|IL16_uc002bgg.2_Missense_Mutation_p.A503S|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_5'UTR|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 503 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 GCATCGCAGGGCTCAGAAGGT 0.602 NA 13 31 4.36969e-10 6.07595e-10 0.001855 1 0 AGBL1 123624 broad.mit.edu 37 15 86807756 86807757 + Missense_Mutation DNP TC TC AA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:86807756_86807757TC>AA uc002blz.1 + 10 1296_1297 c.1216_1217TC>AA c.(1216-1218)TCT>AAT p.S406N AGBL1_uc002bma.1_Missense_Mutation_p.S137N|AGBL1_uc002bmb.1_Missense_Mutation_p.S100N NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 406 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GAGAGATTCTTCTGAAAGTGAA 0.47 NA 23 60 0 0 0.004672 0 0 ACAN 176 broad.mit.edu 37 15 89398308 89398308 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:89398308C>T uc010upo.1 + 12 2866 c.2492C>T c.(2491-2493)CCC>CTC p.P831L ACAN_uc010upp.1_Missense_Mutation_p.P831L|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 831 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGCCATCCCCCTCAGAGGAA 0.632 NA 5 8 0 0 0.000602 0 0 RHCG 51458 broad.mit.edu 37 15 90021158 90021158 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:90021158G>T uc002bnz.2 - 6 909 c.885C>A c.(883-885)ACC>ACA p.T295T RHCG_uc002bny.2_Silent_p.T66T|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Silent_p.T179T NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 295 Helical; (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) TCTCAGCAGCGGTACCCACGG 0.617 NA 9 33 5.16669e-11 7.42666e-11 0.000978 1 0 MCTP2 55784 broad.mit.edu 37 15 95001411 95001411 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:95001411G>C uc002btj.2 + 19 2361 c.2296G>C c.(2296-2298)GAT>CAT p.D766H MCTP2_uc010boj.2_Missense_Mutation_p.D495H|MCTP2_uc010bok.2_Missense_Mutation_p.D711H|MCTP2_uc002btl.2_Missense_Mutation_p.D354H NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 766 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TATGGTACAGGATATTGTTTC 0.328 NA 16 49 0 0 0.00499 0 0 FAM169B 283777 broad.mit.edu 37 15 98995130 98995130 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:98995130C>G uc002buk.1 - 5 544 c.294G>C c.(292-294)CGG>CGC p.R98R NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 98 0 CACAGAAGTCCCGCAGCATGG 0.587 NA 4 12 0 0 0.009096 0 0 IGF1R 3480 broad.mit.edu 37 15 99465614 99465614 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:99465614G>C uc002bul.2 + 11 2489 c.2439G>C c.(2437-2439)CTG>CTC p.L813L IGF1R_uc010urq.1_Silent_p.L813L|IGF1R_uc010bon.2_Silent_p.L813L|IGF1R_uc010boo.1_5'Flank NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 813 Extracellular (Potential). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTGAGAAGCTGGGCTGCAGCG 0.532 NA 15 53 0 0 0.007413 0 0 LINS1 55180 broad.mit.edu 37 15 101112154 101112154 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:101112154C>A uc002bwe.2 - 7 1630 c.1339G>T c.(1339-1341)GAT>TAT p.D447Y LINS1_uc002bwd.2_Missense_Mutation_p.D34Y|LINS1_uc002bwf.2_Missense_Mutation_p.D447Y|LINS1_uc002bwg.2_Missense_Mutation_p.D447Y|LINS1_uc002bwh.2_Missense_Mutation_p.D447Y NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 447 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) AGCATGTCATCGTCTTGTTCT 0.448 NA 23 65 1.10923e-09 1.51353e-09 0.00278 1 0 MSLNL 401827 broad.mit.edu 37 16 823010 823010 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:823010C>A uc002cjz.1 - 11 2175 c.2175G>T c.(2173-2175)CGG>CGT p.R725R NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 374 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 AGGTGATGAGCCGCAGCTGAT 0.672 NA 42 58 2.01807e-28 3.70281e-28 0.00361 1 0 RUNDC2A 84127 broad.mit.edu 37 16 12145987 12145987 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:12145987C>T uc002dbw.1 + 8 1094 c.1032C>T c.(1030-1032)AGC>AGT p.S344S SNX29_uc002dby.3_5'Flank NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 344 S -> G (in Ref. 1; BAB14033). ovary(1) 1 ATGTGAAAAGCATCGATGATG 0.478 NA T CIITA PMBL|Hodgkin Lymphona| 20 130 0 0 0.007413 0 0 ACSM2B 348158 broad.mit.edu 37 16 20576096 20576096 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:20576096G>A uc002dhj.3 - 3 282 c.72C>T c.(70-72)TAC>TAT p.Y24Y ACSM2B_uc002dhk.3_Silent_p.Y24Y|ACSM2B_uc010bwf.1_Silent_p.Y24Y NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 24 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TACTATTAATGTAGAGAGTGC 0.512 NA 12 29 0 0 0.00245 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24979672 24979672 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:24979672C>A uc002dnb.2 - 6 554 c.461G>T c.(460-462)AGG>ATG p.R154M ARHGAP17_uc002dnc.2_Missense_Mutation_p.R154M|ARHGAP17_uc010vcf.1_Translation_Start_Site|ARHGAP17_uc002dnf.2_Missense_Mutation_p.R62M|ARHGAP17_uc002dng.1_Missense_Mutation_p.R154M NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 154 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) AAGCTGTTACCTGGCTCTGAC 0.493 NA 21 52 0.00278032 0.00298476 0.00278 1 0 IL21R 50615 broad.mit.edu 37 16 27460516 27460516 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:27460516C>A uc002doq.1 + 9 1762 c.1529C>A c.(1528-1530)CCC>CAC p.P510H IL21R_uc002dor.1_Missense_Mutation_p.P510H|IL21R_uc002dos.1_Missense_Mutation_p.P510H|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 510 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 TTCACCAGCCCCGGGGACGAA 0.652 NA T BCL6 NHL 7 55 0.00198382 0.00213417 0.001984 1 0 GTF3C1 2975 broad.mit.edu 37 16 27544624 27544624 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:27544624C>T uc002dov.1 - 5 877 c.837G>A c.(835-837)CTG>CTA p.L279L GTF3C1_uc002dou.2_Silent_p.L279L NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 279 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GCTCTTCCCTCAGCTTTCCCA 0.547 NA 13 70 0 0 0.00499 0 0 ITGAD 3681 broad.mit.edu 37 16 31419214 31419214 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:31419214A>T uc002ebv.1 + 9 1035 c.986A>T c.(985-987)CAG>CTG p.Q329L ITGAD_uc010vfl.1_Silent_p.A361A|ITGAD_uc010cap.1_Missense_Mutation_p.Q329L|ITGAD_uc002ebw.1_Silent_p.A172A NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 329 Extracellular (Potential).|VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 AAGCAGCTGCAGGAGAAGATC 0.552 NA 25 42 0 0 0.004656 0 0 ITGAD 3681 broad.mit.edu 37 16 31422636 31422636 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:31422636A>T uc002ebv.1 + 14 1554 c.1505A>T c.(1504-1506)CAG>CTG p.Q502L ITGAD_uc010cap.1_Missense_Mutation_p.Q503L NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 502 Extracellular (Potential).|FG-GAP 5. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CAGAGGGTGCAGTGGCAGTGT 0.632 NA 29 167 0 0 0.009535 0 0 ABCC12 94160 broad.mit.edu 37 16 48138053 48138053 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:48138053C>G uc002efc.1 - 20 3246 c.2900G>C c.(2899-2901)CGC>CCC p.R967P ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 967 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) ATGGGCCTACCGTAACAGAAT 0.458 NA 14 16 0 0 0.00245 0 0 ZNF423 23090 broad.mit.edu 37 16 49669980 49669980 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:49669980G>T uc002efs.2 - 5 3381 c.3083C>A c.(3082-3084)ACA>AAA p.T1028K ZNF423_uc010vgn.1_Missense_Mutation_p.T911K NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1028 C2H2-type 24. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGAAGTGACTGTCTGCATGCA 0.612 NA 7 18 0.00198382 0.00213417 0.001984 1 0 ZNF423 23090 broad.mit.edu 37 16 49670412 49670412 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:49670412G>T uc002efs.2 - 5 2949 c.2651C>A c.(2650-2652)CCC>CAC p.P884H ZNF423_uc010vgn.1_Missense_Mutation_p.P767H NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 884 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCCGTACATGGGCTCCGACGC 0.612 NA 16 54 1.15088e-07 1.44674e-07 0.004007 1 0 CDH8 1006 broad.mit.edu 37 16 61823358 61823358 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:61823358C>A uc002eog.1 - 8 1558 c.1306G>T c.(1306-1308)GAG>TAG p.E436* CDH8_uc002eoh.2_Nonsense_Mutation_p.E205* NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 436 Extracellular (Potential).|Cadherin 4. 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) AACTGCCTCTCCAGGTCAGTG 0.418 NA 18 23 0.000132079 0.000148172 0.008871 1 0 CDH11 1009 broad.mit.edu 37 16 65005902 65005902 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:65005902G>A uc002eoi.2 - 10 1890 c.1456C>T c.(1456-1458)CCC>TCC p.P486S CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.P486S|CDH11_uc010vin.1_Missense_Mutation_p.P360S NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 486 Cadherin 4.|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) GCAAACTTGGGAGCATTATCG 0.483 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 12 7 0 0 0.000978 0 0 CALB2 794 broad.mit.edu 37 16 71392788 71392788 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:71392788C>G uc002faa.3 + 1 163 c.93C>G c.(91-93)GAC>GAG p.D31E CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.D31E NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 31 1 (Probable).|EF-hand 1. calcium ion binding 0 Ovarian(137;0.125) TTGACGCAGACGGTCAGTAAA 0.647 NA 7 6 0 0 0.001984 0 0 ZFHX3 463 broad.mit.edu 37 16 72834018 72834018 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:72834018G>C uc002fck.2 - 8 4548 c.3875C>G c.(3874-3876)CCT>CGT p.P1292R ZFHX3_uc002fcl.2_Missense_Mutation_p.P378R NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1292 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) CACCATCTCAGGGGTGGTCAC 0.453 NA 14 35 0 0 0.00245 0 0 SLC43A2 124935 broad.mit.edu 37 17 1494602 1494602 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:1494602T>A uc002fsv.2 - 8 981 c.892A>T c.(892-894)ACC>TCC p.T298S SLC43A2_uc002fsu.2_Missense_Mutation_p.T298S|SLC43A2_uc002fsw.2_Missense_Mutation_p.T298S|SLC43A2_uc002fsx.2_Missense_Mutation_p.T298S|SLC43A2_uc010vqo.1_Missense_Mutation_p.T161S NM_152346 NP_689559 Q8N370 LAT4_HUMAN solute carrier family 43, member 2 298 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) AGGTCGACGGTGGACAGGCAC 0.692 NA 23 29 0 0 0.00333 0 0 PITPNM3 83394 broad.mit.edu 37 17 6364785 6364785 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:6364785T>A uc002gdd.3 - 18 2549 c.2398A>T c.(2398-2400)AAC>TAC p.N800Y PITPNM3_uc010cln.2_Missense_Mutation_p.N764Y|PITPNM3_uc010clm.2_Missense_Mutation_p.N283Y|PITPNM3_uc002gdc.3_Missense_Mutation_p.N391Y NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 800 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) TGTGGGAAGTTGTGCTGGGAC 0.602 NA 47 67 0 0 0.00361 0 0 DLG4 1742 broad.mit.edu 37 17 7095232 7095232 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:7095232G>A uc002get.3 - 20 3286 c.2085C>T c.(2083-2085)CCC>CCT p.P695P DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Silent_p.P592P|DLG4_uc010cly.2_Silent_p.P649P|DLG4_uc010vto.1_Silent_p.P692P NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 652 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 CCAGGGAGCGGGGGCGGATGA 0.667 NA 4 94 0 0 0.009096 0 0 DLG4 1742 broad.mit.edu 37 17 7095235 7095235 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:7095235G>C uc002get.3 - 20 3283 c.2082C>G c.(2080-2082)CGC>CGG p.R694R DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Silent_p.R591R|DLG4_uc010cly.2_Silent_p.R648R|DLG4_uc010vto.1_Silent_p.R691R NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 651 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 GGGAGCGGGGGCGGATGAAGA 0.672 NA 4 96 0 0 0.009096 0 0 C17orf68 80169 broad.mit.edu 37 17 8135134 8135134 + Splice_Site SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:8135134C>A uc002gkq.3 - 14 2445 c.2386_splice c.e14-1 p.V796_splice C17orf68_uc010cnv.2_Splice_Site NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 TGAGGTGAACCTGGGAGGATG 0.572 NA 4 47 0.00909568 0.00956356 0.009096 1 0 PIK3R5 23533 broad.mit.edu 37 17 8809052 8809052 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:8809052G>T uc002glt.2 - 4 274 c.207C>A c.(205-207)GTC>GTA p.V69V PIK3R5_uc010vuz.1_Silent_p.V69V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.V69V|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 69 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CCTTCTCCTGGACCTGTGGAG 0.562 NSCLC(18;589 615 7696 20311 50332) NA 4 4 0.00116845 0.00127037 0.001168 1 0 MYH2 4620 broad.mit.edu 37 17 10430338 10430338 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:10430338G>C uc010coi.2 - 29 4035 c.3907C>G c.(3907-3909)CTG>GTG p.L1303V uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L1303V|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1303 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TGAGACACCAGAGCTTCCTTT 0.383 NA 13 39 0 0 0.001855 0 0 DNAH9 1770 broad.mit.edu 37 17 11865393 11865393 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:11865393C>A uc002gne.2 + 68 13121 c.13053C>A c.(13051-13053)AAC>AAA p.N4351K DNAH9_uc010coo.2_Missense_Mutation_p.N3569K|DNAH9_uc002gnf.2_Missense_Mutation_p.N663K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4351 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) GCTTCTTCAACCCCCAGTCGT 0.547 NA 19 27 1.33834e-09 1.81403e-09 0.007413 1 0 FAM18B2 201158 broad.mit.edu 37 17 15406305 15406305 + Missense_Mutation SNP T T G rs141163711 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:15406305T>G uc002goq.2 - 6 887 c.704A>C c.(703-705)CAG>CCG p.Q235P CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Intron NM_145301 NP_660344 Q96ET8 F18B2_HUMAN hypothetical protein LOC201158 isoform 1 235 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967) GGGCGCCATCTGTTGGCAGTT 0.587 NA 7 21 0 0 0.001984 0 0 ZNF287 57336 broad.mit.edu 37 17 16456684 16456684 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:16456684T>C uc002gqi.2 - 6 1225 c.772A>G c.(772-774)AAG>GAG p.K258E NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 251 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GTTTCTTCCTTTGTGAGTTTA 0.358 NA 70 70 0 0 0.00361 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318872 21318872 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:21318872C>A uc002gyv.1 + 3 923 c.218C>A c.(217-219)ACC>AAC p.T73N NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 73 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GACATGTTCACCACCTGTGTG 0.577 NA Prostate(3;0.18) 9 50 2.17888e-05 2.54784e-05 0.006214 1 0 KIAA0100 9703 broad.mit.edu 37 17 26955577 26955577 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:26955577C>A uc002hbu.2 - 24 4399 c.4300G>T c.(4300-4302)GAG>TAG p.E1434* NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1434 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GCAGAGAGCTCCTAAGAAACA 0.433 NA 25 43 2.27525e-19 3.91466e-19 0.003954 1 0 SLC6A4 6532 broad.mit.edu 37 17 28539837 28539837 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:28539837C>T uc002hey.3 - 9 1669 c.1125G>A c.(1123-1125)TCG>TCA p.S375S SLC6A4_uc010csg.2_5'Flank NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 375 Helical; Name=7; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TGACAAATCCCGAAACGAAGC 0.552 NA 15 44 0 0 0.004007 0 0 CPD 1362 broad.mit.edu 37 17 28772927 28772927 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:28772927G>T uc002hfb.1 + 12 2777 c.2762G>T c.(2761-2763)CGC>CTC p.R921L CPD_uc010wbo.1_Missense_Mutation_p.R674L|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 921 Extracellular (Potential).|Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 CTCATGTTACGCTCCTCCTCA 0.408 NA 15 89 9.16793e-09 1.20898e-08 0.00499 1 0 NF1 4763 broad.mit.edu 37 17 29654692 29654692 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:29654692A>T uc002hgg.2 + 38 5777 c.5444A>T c.(5443-5445)CAG>CTG p.Q1815L NF1_uc002hgh.2_Missense_Mutation_p.Q1794L|NF1_uc002hgi.1_Missense_Mutation_p.Q827L|NF1_uc010cso.2_Missense_Mutation_p.Q3L NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1815 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.Q1815*(1)|p.H1814fs*43(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTCATGCACCAGGAGTGTGAA 0.488 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 27 54 0 0 0.008361 0 0 UTP6 55813 broad.mit.edu 37 17 30207728 30207728 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:30207728C>A uc002hgr.2 - 11 914 c.831G>T c.(829-831)GTG>GTT p.V277V UTP6_uc002hgq.2_Silent_p.V93V|UTP6_uc010cst.2_Silent_p.V126V|UTP6_uc010wbw.1_Silent_p.V277V NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 277 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CTCGCCTTGCCACATAATCCC 0.463 NA 20 137 1.96292e-10 2.75943e-10 0.010504 1 0 SLFN12L 342615 broad.mit.edu 37 17 33802074 33802074 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:33802074T>C uc002hjn.2 - 5 2601 c.1722A>G c.(1720-1722)ACA>ACG p.T574T NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 TTGTTTGAGCTGTTGTCCAAT 0.318 NA 10 22 0 0 0.006214 0 0 SLFN12L 342615 broad.mit.edu 37 17 33806457 33806457 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:33806457C>G uc002hjn.2 - 3 1738 c.859G>C c.(859-861)GGT>CGT p.G287R NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 TCATTTAGACCAACGAATAAA 0.328 NA 10 42 0 0 0.008291 0 0 NEUROD2 4761 broad.mit.edu 37 17 37762573 37762573 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:37762573C>A uc002hry.2 - 2 480 c.280G>T c.(280-282)GAC>TAC p.D94Y NM_006160 NP_006151 Q15784 NDF2_HUMAN neurogenic differentiation 2 94 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TCCGCCTCGTCCAGTCCTtct 0.502 NA 3 1 0.004672 0.00495824 0.004672 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274398 39274398 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:39274398G>T uc002hvz.2 - 1 209 c.170C>A c.(169-171)TCT>TAT p.S57Y NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 57 7.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGCACACAGACTGGCAGCA 0.672 NA 16 22 3.45872e-05 4.03057e-05 0.004007 1 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316477 39316477 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:39316477T>C uc002hwc.2 - 1 507 c.467A>G c.(466-468)TAC>TGC p.Y156C NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN keratin associated protein 4.4 156 keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ATGGGGCCTGTAGCACCTGGA 0.617 NA 12 28 0 0 0.001368 0 0 STAT3 6774 broad.mit.edu 37 17 40468916 40468916 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:40468916C>G uc002hzl.1 - 23 2388 c.2148G>C c.(2146-2148)ACG>ACC p.T716T STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Silent_p.T715T|STAT3_uc010wgh.1_Silent_p.T618T|STAT3_uc002hzn.1_Silent_p.T716T|STAT3_uc010cyf.1_5'Flank NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 716 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TGCTGCAGGTCGTTCTGTAGG 0.483 NA Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome 8 54 0 0 0.00308 0 0 EZH1 2145 broad.mit.edu 37 17 40872313 40872313 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:40872313C>G uc002iaz.2 - 7 787 c.642G>C c.(640-642)AAG>AAC p.K214N EZH1_uc002iba.2_Missense_Mutation_p.K205N|EZH1_uc010wgt.1_Missense_Mutation_p.K144N|EZH1_uc010wgu.1_Missense_Mutation_p.K220N|EZH1_uc010wgv.1_Missense_Mutation_p.K174N|EZH1_uc010wgw.1_Missense_Mutation_p.K75N|EZH1_uc010cyp.2_Missense_Mutation_p.K115N|EZH1_uc010cyq.2_Missense_Mutation_p.K131N|EZH1_uc010cys.2_Missense_Mutation_p.K165N|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'UTR NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 214 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GTCGCTTTCTCTTTCTTGTTA 0.448 NA 20 84 0 0 0.00278 0 0 CRHR1 1394 broad.mit.edu 37 17 43906640 43906640 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:43906640C>T uc010dap.2 + 5 652 c.387C>T c.(385-387)ATC>ATT p.I129I CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.I28I|CRHR1_uc002ijm.2_Silent_p.I129I|CRHR1_uc002ijn.2_Silent_p.I89I|CRHR1_uc010dar.2_Silent_p.I129I|CRHR1_uc010dao.2_Silent_p.I28I|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 129 Helical; Name=1; (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GCCACTGTATCTCCCTGGTGG 0.582 Ovarian(110;57 1568 10207 38216 49865) NA 10 25 0 0 0.008291 0 0 MYL4 4635 broad.mit.edu 37 17 45299788 45299788 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:45299788G>T uc002ilg.2 + 6 658 c.530G>T c.(529-531)GGG>GTG p.G177V MYL4_uc002ilh.2_Missense_Mutation_p.G177V NM_001002841 NP_001002841 P12829 MYL4_HUMAN atrial/embryonic alkali myosin light chain 177 EF-hand 3. cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle ovary(2) 2 CTGTTAGCTGGGCAAGAGGAT 0.552 NA 7 54 8.12818e-05 9.14868e-05 0.001984 1 0 COL1A1 1277 broad.mit.edu 37 17 48272811 48272811 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:48272811C>A uc002iqm.2 - 18 1310 c.1184G>T c.(1183-1185)GGT>GTT p.G395V NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 395 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) ACCTTTAGCACCAGGCTGTCC 0.582 NA T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta OREG0024559 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 75 7.07596e-05 8.00845e-05 0.006122 1 0 KIF2B 84643 broad.mit.edu 37 17 51900651 51900651 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:51900651C>A uc002iua.2 + 1 413 c.257C>A c.(256-258)GCT>GAT p.A86D NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 86 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CTGGACTCTGCTGAACACCCC 0.572 NA 19 147 2.89027e-11 4.18393e-11 0.002299 1 0 ABCA6 23460 broad.mit.edu 37 17 67130881 67130881 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:67130881G>T uc002jhw.1 - 5 638 c.463C>A c.(463-465)CAT>AAT p.H155N NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 155 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) TCCCAGCAATGAGCTGTAAGC 0.383 NA 17 49 1.33834e-09 1.81403e-09 0.007413 1 0 TTYH2 94015 broad.mit.edu 37 17 72240154 72240154 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:72240154G>T uc002jkc.2 + 6 801 c.770G>T c.(769-771)TGG>TTG p.W257L TTYH2_uc010wqw.1_Missense_Mutation_p.W236L NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 257 Helical; Name=4; (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 CTCCTCAGTTGGGCATCCCTG 0.652 NA 8 52 0.000442599 0.000486383 0.006214 1 0 GPR142 350383 broad.mit.edu 37 17 72368433 72368433 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:72368433C>G uc010wqy.1 + 4 1083 c.1083C>G c.(1081-1083)GGC>GGG p.G361G GPR142_uc010wqx.1_Silent_p.G273G NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 361 Helical; Name=6; (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TCCTCCTGGGCATCACCACAC 0.662 NA 33 35 0 0 0.003271 0 0 OTOP2 92736 broad.mit.edu 37 17 72921751 72921751 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:72921751G>T uc010wrp.1 + 4 503 c.414G>T c.(412-414)CTG>CTT p.L138L USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Silent_p.L138L NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 138 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) TCAAGATCCTGCACCCCCTCA 0.537 NA 40 54 6.07928e-31 1.1317e-30 0.009718 1 0 MIF4GD 57409 broad.mit.edu 37 17 73262985 73262985 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:73262985G>T uc002jnr.2 - 6 634 c.505C>A c.(505-507)CGC>AGC p.R169S MIF4GD_uc002jno.2_Missense_Mutation_p.R210S|MIF4GD_uc002jnp.2_Missense_Mutation_p.R203S|MIF4GD_uc002jnq.2_Missense_Mutation_p.R210S A9UHW6 MI4GD_HUMAN RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1; Short=hSLIP1; 169 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding ovary(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) TCATCCATGCGCTGCCCATTC 0.592 NA 15 29 1.02788e-11 1.50717e-11 0.00499 1 0 MIF4GD 57409 broad.mit.edu 37 17 73263869 73263869 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:73263869G>T uc002jnr.2 - 4 435 c.306C>A c.(304-306)GTC>GTA p.V102V MIF4GD_uc002jno.2_Silent_p.V143V|MIF4GD_uc002jnp.2_Silent_p.V136V|MIF4GD_uc002jnq.2_Silent_p.V143V A9UHW6 MI4GD_HUMAN RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1; Short=hSLIP1; 102 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding ovary(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) TGACATAGCAGACCCAGCCCT 0.622 NA 13 52 1.5842e-08 2.06776e-08 0.001855 1 0 UNC13D 201294 broad.mit.edu 37 17 73836587 73836587 + Splice_Site SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:73836587C>T uc002jpp.2 - 9 1133 c.753_splice c.e9+1 p.Q251_splice UNC13D_uc010wsk.1_Splice_Site_p.Q251_splice|UNC13D_uc002jpq.1_Splice_Site|UNC13D_uc010dgq.1_Splice_Site_p.Q48_splice NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) ATCCTCCTCACCTGCAGCCTC 0.622 NA Familial_Hemophagocytic_Lymphohistiocytosis 30 42 0 0 0.002445 0 0 DCXR 51181 broad.mit.edu 37 17 79994492 79994492 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:79994492C>A uc002kdg.2 - 5 391 c.376G>T c.(376-378)GGA>TGA p.G126* NM_016286 NP_057370 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 126 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity 0 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCTGGGACTCCCCGGGCTATT 0.587 NA 12 30 2.27111e-07 2.83058e-07 0.001368 1 0 COLEC12 81035 broad.mit.edu 37 18 346494 346494 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:346494G>T uc002kkm.2 - 5 1343 c.1128C>A c.(1126-1128)ACC>ACA p.T376T NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 376 Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CTGTGTGTTTGGTAAGGGTAT 0.458 NA 19 50 2.35188e-11 3.42396e-11 0.006122 1 0 EMILIN2 84034 broad.mit.edu 37 18 2847926 2847926 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:2847926T>A uc002kln.2 + 2 413 c.254T>A c.(253-255)CTG>CAG p.L85Q NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 85 EMI. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CCGTCGGCGCTGGTGTAAGTC 0.478 NA 7 20 0 0 0.00308 0 0 LRRC30 339291 broad.mit.edu 37 18 7231772 7231772 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:7231772G>C uc010wzk.1 + 1 636 c.636G>C c.(634-636)CAG>CAC p.Q212H NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 212 LRR 7. ovary(1)|liver(1) 2 CCAGCCTGCAGATCTTCATCG 0.547 NA 18 24 0 0 0.010504 0 0 LRRC30 339291 broad.mit.edu 37 18 7231799 7231799 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:7231799C>A uc010wzk.1 + 1 663 c.663C>A c.(661-663)ATC>ATA p.I221I NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 221 LRR 7. ovary(1)|liver(1) 2 GCAACAACATCCACTCCTTCC 0.567 NA 12 17 7.93312e-07 9.7214e-07 0.00245 1 0 KIAA0802 23255 broad.mit.edu 37 18 8783929 8783929 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:8783929G>T uc002knr.2 + 6 961 c.819G>T c.(817-819)GAG>GAT p.E273D KIAA0802_uc002knq.2_Missense_Mutation_p.E273D|KIAA0802_uc010dkw.1_Missense_Mutation_p.E111D NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 624 Potential. 0 CCTCCACTGAGCTCCGCCGCC 0.642 NA 46 102 1.51926e-22 2.70502e-22 0.00361 1 0 SPIRE1 56907 broad.mit.edu 37 18 12496079 12496079 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:12496079C>A uc002kre.2 - 7 1042 c.995G>T c.(994-996)CGG>CTG p.R332L SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.R212L|SPIRE1_uc010wzx.1_Missense_Mutation_p.R135L|SPIRE1_uc010wzy.1_Missense_Mutation_p.R332L NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 332 cytoskeleton|perinuclear region of cytoplasm actin binding 0 CTTTTTTAACCGAGGGGGAAT 0.373 NA 13 71 2.68362e-12 4.01561e-12 0.001368 1 0 DSG2 1829 broad.mit.edu 37 18 29111028 29111028 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:29111028A>T uc002kwu.3 + 9 1281 c.1093A>T c.(1093-1095)AGG>TGG p.R365W NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 365 Extracellular (Potential).|Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CAAGTCGATTAGGAGTAAATA 0.363 NA 22 48 0 0 0.010504 0 0 FAM59A 64762 broad.mit.edu 37 18 29867399 29867399 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:29867399C>A uc002kxl.2 - 4 1217 c.1161G>T c.(1159-1161)TCG>TCT p.S387S FAM59A_uc002kxk.1_Silent_p.S387S NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 387 ovary(1)|skin(1) 2 ACACACAGACCGAGAGTCGGT 0.587 NA 12 44 4.3838e-07 5.43719e-07 0.001855 1 0 NOL4 8715 broad.mit.edu 37 18 31599524 31599524 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:31599524C>A uc010dmi.2 - 6 1043 c.814G>T c.(814-816)GGG>TGG p.G272W NOL4_uc010xbs.1_5'UTR|NOL4_uc002kxr.3_Missense_Mutation_p.G108W|NOL4_uc010xbt.1_Missense_Mutation_p.G198W|NOL4_uc010dmh.2_Missense_Mutation_p.G198W|NOL4_uc010xbu.1_Missense_Mutation_p.G272W|NOL4_uc002kxt.3_Missense_Mutation_p.G272W|NOL4_uc010xbv.1_Missense_Mutation_p.G21W|NOL4_uc010xbw.1_Missense_Mutation_p.G158W NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 272 nucleolus RNA binding ovary(3) 3 GAACTGTGCCCCAGAGTCTCA 0.433 NA 12 71 1.15088e-07 1.44674e-07 0.004007 1 0 DTNA 1837 broad.mit.edu 37 18 32407638 32407638 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:32407638G>T uc010dmn.1 + 10 1093 c.1092G>T c.(1090-1092)AGG>AGT p.R364S DTNA_uc002kxu.2_Missense_Mutation_p.R364S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.R364S|DTNA_uc002kxw.2_Missense_Mutation_p.R364S|DTNA_uc002kxx.2_Missense_Mutation_p.R361S|DTNA_uc010dmj.2_Missense_Mutation_p.R361S|DTNA_uc002kxz.2_Missense_Mutation_p.R361S|DTNA_uc002kxy.2_Missense_Mutation_p.R361S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.R361S|DTNA_uc002kyb.3_Missense_Mutation_p.R361S|DTNA_uc010dmm.2_Missense_Mutation_p.R364S|DTNA_uc010xby.1_Missense_Mutation_p.R111S|DTNA_uc010dmo.2_Missense_Mutation_p.R43S|DTNA_uc002kyd.3_Missense_Mutation_p.R43S|DTNA_uc010xbz.1_Missense_Mutation_p.R43S|DTNA_uc010xca.1_Missense_Mutation_p.R43S|DTNA_uc002kye.2_Missense_Mutation_p.R43S NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 364 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 TTATTACCAGGAGGTAAGTTC 0.438 NA 14 63 0.00185496 0.00201036 0.001855 1 0 SLC14A2 8170 broad.mit.edu 37 18 43204724 43204724 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:43204724C>A uc010dnj.2 + 3 416 c.95C>A c.(94-96)TCG>TAG p.S32* SLC14A2_uc002lbb.2_Nonsense_Mutation_p.S32*|SLC14A2_uc002lbe.2_Nonsense_Mutation_p.S32* NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 32 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 AGCTGGCCCTCGACATCCCCG 0.572 NA 9 42 3.86212e-05 4.42498e-05 0.008291 1 0 TCEB3C 162699 broad.mit.edu 37 18 44554666 44554666 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:44554666G>T uc010xdb.1 - 1 1784 c.1548C>A c.(1546-1548)CCC>CCA p.P516P KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 TTTTGTccgcgggcgccgcgt 0.373 NA 6 343 4.3838e-07 5.43719e-07 0.001855 1 0 MAPK4 5596 broad.mit.edu 37 18 48255621 48255621 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:48255621G>C uc002lev.2 + 6 2161 c.1161G>C c.(1159-1161)GCG>GCC p.A387A MAPK4_uc010xdm.1_Silent_p.A176A|MAPK4_uc010doz.2_3'UTR NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 387 cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) CGGGTTCGGCGCCACTGGCTG 0.697 NA 6 12 0 0 0.001168 0 0 DCC 1630 broad.mit.edu 37 18 50432650 50432650 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:50432650C>A uc002lfe.1 + 3 1236 c.649C>A c.(649-651)CCA>ACA p.P217T DCC_uc010xdr.1_Missense_Mutation_p.P65T NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 217 Extracellular (Potential).|Ig-like C2-type 2. 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) AGCTCGAAATCCAGCCAGCTC 0.483 NA 10 41 0.00829132 0.00875385 0.008291 1 0 DCC 1630 broad.mit.edu 37 18 51025666 51025666 + Splice_Site SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:51025666A>G uc002lfe.1 + 27 4486 c.3899_splice c.e27-2 p.S1300_splice DCC_uc010dpf.1_Splice_Site_p.T933_splice NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 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) TCTCCACTGCAGCAGTGAGTG 0.498 NA 7 36 0 0 0.00308 0 0 WDR7 23335 broad.mit.edu 37 18 54444111 54444111 + Missense_Mutation SNP G G T rs113781282 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:54444111G>T uc002lgk.1 + 17 3158 c.2947G>T c.(2947-2949)GGT>TGT p.G983C WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Intron NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 983 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) AGTAAATGAAGGTATCTCTCT 0.418 NA 27 107 7.38237e-10 1.01819e-09 0.00632 1 0 PHLPP1 23239 broad.mit.edu 37 18 60563197 60563197 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:60563197G>C uc002lis.2 + 7 1039 c.861G>C c.(859-861)AGG>AGC p.R287S NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 799 LRR 7. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 AGACCCTTAGGCTACAGGCTT 0.383 NA 8 32 0 0 0.00308 0 0 SERPINB12 89777 broad.mit.edu 37 18 61234152 61234152 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:61234152G>T uc010xen.1 + 7 1126 c.1126G>T c.(1126-1128)GTG>TTG p.V376L SERPINB12_uc010xeo.1_Missense_Mutation_p.V396L NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 376 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 ACGATCTTGGGTGGAGTTTAA 0.463 NA 22 45 2.32416e-17 3.9261e-17 0.002299 1 0 CDH7 1005 broad.mit.edu 37 18 63526277 63526277 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:63526277G>A uc002ljz.2 + 9 1814 c.1489G>A c.(1489-1491)GGG>AGG p.G497R CDH7_uc002lka.2_Missense_Mutation_p.G497R|CDH7_uc002lkb.2_Missense_Mutation_p.G497R NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 497 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TGCCCAGCCGGGGCAGGTAAG 0.428 NA 11 33 0 0 0.001368 0 0 CDH19 28513 broad.mit.edu 37 18 64211979 64211979 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:64211979C>T uc002lkc.1 - 6 1075 c.937G>A c.(937-939)GAA>AAA p.E313K CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.E313K|CDH19_uc002lkd.2_Missense_Mutation_p.E313K NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 313 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) ACTATTCCTTCTTGAGTTTCA 0.308 NA 6 13 0 0 0.001984 0 0 ZNF516 9658 broad.mit.edu 37 18 74154222 74154223 + Missense_Mutation DNP CA CA AG TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:74154222_74154223CA>AG uc010dqx.1 - 2 1023_1024 c.788_789TG>CT c.(787-789)CTG>CCT p.L263P ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 263 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TGTGCGCCTTCAGGAACCAGGT 0.653 NA 5 21 0 0 0.004672 0 0 ZNF236 7776 broad.mit.edu 37 18 74624286 74624286 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr18:74624286G>T uc002lmi.2 + 17 3084 c.2886G>T c.(2884-2886)CAG>CAT p.Q962H ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 962 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) ACGAGGACCAGAGCAGGCGCT 0.542 NA 4 15 0.00024832 0.000275552 0.009096 1 0 TMIGD2 126259 broad.mit.edu 37 19 4292732 4292732 + Nonsense_Mutation SNP G G T rs144046862 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:4292732G>T uc002lzx.1 - 5 759 c.713C>A c.(712-714)TCA>TAA p.S238* TMIGD2_uc010dtv.1_Nonsense_Mutation_p.S234* NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 238 Pro-rich.|Cytoplasmic (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) gcagggTCTTGACGCCAGGTG 0.498 NA 23 21 1.96895e-08 2.55364e-08 0.00278 1 0 RANBP3 8498 broad.mit.edu 37 19 5933469 5933469 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:5933469C>T uc002mdw.2 - 6 655 c.428G>A c.(427-429)CGG>CAG p.R143Q RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.R143Q|RANBP3_uc002mdy.2_Missense_Mutation_p.R75Q|RANBP3_uc002mdz.2_Missense_Mutation_p.R75Q|RANBP3_uc010duq.2_Missense_Mutation_p.R53Q|RANBP3_uc002mea.2_Missense_Mutation_p.R15Q|RANBP3_uc010xix.1_Missense_Mutation_p.R15Q NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 143 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 TGGCTTCAACCGGAAGCCACT 0.622 NA 4 41 0 0 0.000602 0 0 ACTL9 284382 broad.mit.edu 37 19 8808271 8808271 + Missense_Mutation SNP C C A rs142929347 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:8808271C>A uc002mkl.2 - 1 902 c.781G>T c.(781-783)GTG>TTG p.V261L NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 261 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 TCGGAGGCCACGTAGCAATAG 0.647 NA 16 28 4.7546e-09 6.3519e-09 0.004007 1 0 MUC16 94025 broad.mit.edu 37 19 9060278 9060278 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:9060278G>T uc002mkp.2 - 3 27372 c.27168C>A c.(27166-27168)GAC>GAA p.D9056E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9058 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGTGGATATGTCTTGTGACA 0.493 NA 28 38 1.39806e-14 2.23601e-14 0.008361 1 0 MUC16 94025 broad.mit.edu 37 19 9072943 9072943 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:9072943C>A uc002mkp.2 - 3 14707 c.14503G>T c.(14503-14505)GTG>TTG p.V4835L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4837 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 GTGGTCCCCACATTGGTAACT 0.453 NA 29 35 4.22769e-11 6.11132e-11 0.00632 1 0 COL5A3 50509 broad.mit.edu 37 19 10091370 10091370 + Splice_Site SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:10091370T>C uc002mmq.1 - 35 2646 c.2560_splice c.e35-1 p.G854_splice NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CACATCGCCCTAGGACAGAGT 0.453 NA 5 15 0 0 0.00308 0 0 KEAP1 9817 broad.mit.edu 37 19 10610293 10610293 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:10610293G>T uc002moq.1 - 2 573 c.417C>A c.(415-417)TTC>TTA p.F139L KEAP1_uc002mor.1_Missense_Mutation_p.F139L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 139 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCGTGTAGGCGAATTCAATGA 0.582 NA 10 16 7.48243e-07 9.20222e-07 0.006214 1 0 SMARCA4 6597 broad.mit.edu 37 19 11138491 11138491 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:11138491G>T uc002mqf.3 + 24 3531 c.3247G>T c.(3247-3249)GAG>TAG p.E1083* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E1083*|SMARCA4_uc010dxt.1_Nonsense_Mutation_p.E303*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.E206*|SMARCA4_uc002mqi.1_Nonsense_Mutation_p.E286* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1083 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(2) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGGTAAATTTGAGCTTCTTGA 0.517 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 37 35 1.69901e-12 2.56483e-12 0.005524 1 0 MYO9B 4650 broad.mit.edu 37 19 17283219 17283219 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:17283219G>C uc010eak.2 + 12 2019 c.1867G>C c.(1867-1869)GGC>CGC p.G623R MYO9B_uc002nfi.2_Missense_Mutation_p.G623R|MYO9B_uc002nfj.1_Missense_Mutation_p.G623R NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 623 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 GTACTTCCTGGGCACCCCGGT 0.542 NA 9 11 0 0 0.006214 0 0 UNC13A 23025 broad.mit.edu 37 19 17758111 17758111 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:17758111G>A uc002nhd.2 - 17 2271 c.2271C>T c.(2269-2271)GAC>GAT p.D757D NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 669 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 TGGACGTGCCGTCCAGCACGC 0.632 NA 3 5 0 0 0.004672 0 0 NCAN 1463 broad.mit.edu 37 19 19339042 19339042 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:19339042G>T uc002nlz.2 + 8 2712 c.2613G>T c.(2611-2613)ACG>ACT p.T871T NCAN_uc010ecc.1_Silent_p.T435T NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 871 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.T871M(1) ovary(4) 4 Epithelial(12;0.00544) GCATTGTGACGCCCCTCACGA 0.582 NA 24 29 7.87624e-14 1.2403e-13 0.00278 1 0 ZNF708 7562 broad.mit.edu 37 19 21476272 21476272 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:21476272G>T uc002npq.1 - 4 1694 c.1496C>A c.(1495-1497)ACT>AAT p.T499N ZNF708_uc002npr.1_Missense_Mutation_p.T435N|ZNF708_uc010ecs.1_Missense_Mutation_p.T435N NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 TTTCTCTCCAGTATGAATTAT 0.353 NA 10 17 0.00829132 0.00875385 0.008291 1 0 ZNF208 7757 broad.mit.edu 37 19 22156742 22156742 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:22156742C>A uc002nqp.2 - 4 1243 c.1094G>T c.(1093-1095)GGA>GTA p.G365V ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGGTTTCTCTCCAGTATGAAT 0.388 NA 15 17 1.67942e-08 2.18924e-08 0.006122 1 0 ZNF676 163223 broad.mit.edu 37 19 22363512 22363512 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:22363512G>T uc002nqs.1 - 3 1325 c.1007C>A c.(1006-1008)CCC>CAC p.P336H NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 336 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) ACATTTGTAGGGTTTCTCTCC 0.413 NA 18 42 2.94398e-08 3.80373e-08 0.007413 1 0 ZNF98 148198 broad.mit.edu 37 19 22586234 22586234 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:22586234T>A uc002nqt.2 - 2 233 c.111A>T c.(109-111)TTA>TTT p.L37F NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CATTCCTATATAAATTCTGCT 0.388 NA 8 70 0 0 0.00308 0 0 ZNF536 9745 broad.mit.edu 37 19 30935025 30935025 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:30935025G>T uc002nsu.1 + 2 694 c.556G>T c.(556-558)GGC>TGC p.G186C ZNF536_uc010edd.1_Missense_Mutation_p.G186C NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGGCAACCTGGGCAAGGGGCG 0.667 NA 12 17 7.03913e-09 9.30658e-09 0.001368 1 0 CD22 933 broad.mit.edu 37 19 35829249 35829249 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:35829249C>G uc010edt.2 + 6 1241 c.1164C>G c.(1162-1164)CCC>CCG p.P388P CD22_uc010xst.1_Silent_p.P216P|CD22_uc010edu.2_Intron|CD22_uc010edv.2_Silent_p.P388P|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 388 Extracellular (Potential).|Ig-like C2-type 3. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGATCCTCCCCTGGCACGCTG 0.532 Ovarian(42;1009 1133 23674 26041) NA 6 84 0 0 0.001168 0 0 LIN37 55957 broad.mit.edu 37 19 36245208 36245208 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:36245208G>C uc002obm.2 + 9 761 c.647G>C c.(646-648)CGC>CCC p.R216P uc002obl.2_5'Flank NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog 216 protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGCTGGAAACGCATCCGCCAG 0.637 NA 39 49 0 0 0.00623 0 0 ZFP14 57677 broad.mit.edu 37 19 36832249 36832249 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:36832249G>T uc002odx.1 - 4 572 c.479C>A c.(478-480)ACT>AAT p.T160N ZFP14_uc010xtd.1_Missense_Mutation_p.T161N|ZFP14_uc010eex.1_Missense_Mutation_p.T160N NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) CTGATACTCAGTAAGAAAATT 0.388 NA 22 222 1.22574e-08 1.61016e-08 0.002299 1 0 ZNF461 92283 broad.mit.edu 37 19 37129923 37129923 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:37129923C>A uc002oem.2 - 6 1552 c.1324G>T c.(1324-1326)GAG>TAG p.E442* ZNF461_uc002oen.2_Nonsense_Mutation_p.E411*|ZNF461_uc010xtj.1_Nonsense_Mutation_p.E419* NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 442 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCCTTACACTCATAGGGTTTC 0.408 NA 21 36 4.96729e-08 6.3776e-08 0.008871 1 0 ZNF585B 92285 broad.mit.edu 37 19 37677515 37677515 + Silent SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:37677515A>T uc002ofq.2 - 5 1178 c.924T>A c.(922-924)ATT>ATA p.I308I uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.I122I NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 308 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGACTTGGAAATGAAGGATT 0.418 Melanoma(93;882 1454 18863 28917 48427) NA 51 209 0 0 0.00361 0 0 ZNF546 339327 broad.mit.edu 37 19 40504258 40504258 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:40504258G>T uc002oms.2 + 3 281 c.25G>T c.(25-27)GGG>TGG p.G9W ZNF546_uc002omt.2_Intron NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCCTCTTCACGGGCCTCCAAA 0.428 NA 15 40 1.52009e-12 2.30153e-12 0.003163 1 0 MAP3K10 4294 broad.mit.edu 37 19 40704286 40704286 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:40704286G>T uc002ona.2 + 2 975 c.687G>T c.(685-687)CTG>CTT p.L229L MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 229 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 CCACAGTCCTGATCCTGGAGG 0.612 NA 6 25 3.59834e-05 4.1695e-05 0.001168 1 0 ADCK4 79934 broad.mit.edu 37 19 41206254 41206254 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:41206254C>A uc002oor.2 - 11 1298 c.996G>T c.(994-996)CTG>CTT p.L332L ADCK4_uc002oop.1_Silent_p.L9L|ADCK4_uc002ooq.1_Silent_p.L291L NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a 332 Protein kinase. integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GGCACTGGTCCAGGGGGACCC 0.662 NA 5 67 0.00116845 0.00127037 0.001168 1 0 CYP2B6 1555 broad.mit.edu 37 19 41522649 41522649 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:41522649C>T uc002opr.1 + 9 1400 c.1393C>T c.(1393-1395)CCA>TCA p.P465S CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.P265S NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 465 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CCCCGTGGCCCCAGAAGACAT 0.587 NA 12 33 0 0 0.001368 0 0 ZNF45 7596 broad.mit.edu 37 19 44417580 44417580 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:44417580C>G uc002oxu.1 - 4 2107 c.2008G>C c.(2008-2010)GAC>CAC p.D670H ZNF45_uc002oxw.1_Missense_Mutation_p.D670H|ZNF45_uc002oxv.1_Missense_Mutation_p.D670H NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 670 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GAAGGAAAGTCCTTGTCACCC 0.398 NA 22 65 0 0 0.00278 0 0 ZNF155 7711 broad.mit.edu 37 19 44501580 44501580 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:44501580G>C uc002oxy.1 + 5 1776 c.1571G>C c.(1570-1572)CGC>CCC p.R524P ZNF155_uc002oxz.1_Missense_Mutation_p.R524P|ZNF155_uc010xwt.1_Missense_Mutation_p.R535P|uc010ejc.1_RNA NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 524 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) TACAAGAGGCGCTTGAATCTG 0.289 NSCLC(61;554 1277 20909 42067 42312) NA 34 36 0 0 0.004878 0 0 RSPH6A 81492 broad.mit.edu 37 19 46299364 46299364 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:46299364T>C uc002pdm.2 - 6 2060 c.1917A>G c.(1915-1917)AAA>AAG p.K639K RSPH6A_uc002pdl.2_Silent_p.K375K NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 639 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 TCTCAAACTTTCTGGAGAAGC 0.428 NA 29 107 0 0 0.00632 0 0 CRX 1406 broad.mit.edu 37 19 48343139 48343139 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:48343139C>A uc002phq.3 + 4 1019 c.815C>A c.(814-816)CCC>CAC p.P272H NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 272 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TTCAAGGACCCCACGGGCACC 0.587 Pancreas(57;461 1196 22201 40716 47188) NA 53 151 5.39261e-20 9.37287e-20 0.00361 1 0 SNRNP70 6625 broad.mit.edu 37 19 49610944 49610944 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:49610944G>T uc002pmk.2 + 9 1079 c.640G>T c.(640-642)GAT>TAT p.D214Y SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.D214Y|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA NM_003089 NP_003080 P08621 RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa 214 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 TTCAGGCCGCGATGACACCTC 0.657 NA 21 46 1.96292e-10 2.75943e-10 0.010504 1 0 SHANK1 50944 broad.mit.edu 37 19 51220046 51220046 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:51220046C>A uc002psx.1 - 1 150 c.131G>T c.(130-132)GGC>GTC p.G44V NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 44 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGCCCCACTGCCCTGGCCCCG 0.682 NA 5 22 0.000602214 0.000660368 0.000602 1 0 KLK4 9622 broad.mit.edu 37 19 51411735 51411735 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:51411735C>A uc002pua.1 - 4 492 c.492G>T c.(490-492)GTG>GTT p.V164V KLK4_uc002pty.1_Intron|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.V69V|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Missense_Mutation_p.C97F|KLK4_uc002pud.1_Silent_p.V69V NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 164 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CGCACTGCAGCACGGTAGGCA 0.642 NA 34 43 3.11337e-16 5.14034e-16 0.002836 1 0 ZNF816A 125893 broad.mit.edu 37 19 53454041 53454041 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:53454041T>A uc002qal.1 - 5 1288 c.987A>T c.(985-987)AGA>AGT p.R329S ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.R313S NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 329 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TACGATGGCATCTAAGGGATG 0.423 NA 53 159 0 0 0.00361 0 0 ZNF845 91664 broad.mit.edu 37 19 53855101 53855101 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:53855101C>G uc010ydv.1 + 4 1290 c.1173C>G c.(1171-1173)ACC>ACG p.T391T ZNF845_uc010ydw.1_Silent_p.T391T NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 391 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCAGCAGGACCTTTAGTCGGA 0.393 NA 42 58 0 0 0.00361 0 0 ZNF761 388561 broad.mit.edu 37 19 53952873 53952873 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:53952873A>T uc010eqp.2 + 5 582 c.124A>T c.(124-126)AGG>TGG p.R42W ZNF761_uc002qbr.2_RNA|ZNF761_uc010ydy.1_5'UTR|ZNF761_uc002qbs.2_RNA|ZNF761_uc002qbt.1_5'Flank NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) GGAGAATTATAGGAACCTGGT 0.433 NA 12 41 0 0 0.00245 0 0 PRKCG 5582 broad.mit.edu 37 19 54401818 54401818 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:54401818G>T uc002qcq.1 + 11 1499 c.1217G>T c.(1216-1218)GGG>GTG p.G406V PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Missense_Mutation_p.G406V|PRKCG_uc010yeh.1_Missense_Mutation_p.G293V NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 406 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CTGGCGCTGGGGGGCCGGGGT 0.647 NA 12 14 5.16669e-11 7.42666e-11 0.000978 1 0 LILRB5 10990 broad.mit.edu 37 19 54758731 54758731 + Nonsense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:54758731A>T uc002qex.2 - 6 1233 c.1122T>A c.(1120-1122)TAT>TAA p.Y374* LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Nonsense_Mutation_p.Y365*|LILRB5_uc002qey.2_Nonsense_Mutation_p.Y374*|LILRB5_uc002qez.2_Nonsense_Mutation_p.Y274*|LILRB5_uc002qfa.1_Nonsense_Mutation_p.Y264*|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 374 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCTGGTGTCTATAAGACTGGT 0.537 NA 28 36 0 0 0.002096 0 0 SAPS1 22870 broad.mit.edu 37 19 55748126 55748126 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:55748126C>A uc002qjw.3 - 17 2115 c.1873G>T c.(1873-1875)GAA>TAA p.E625* SAPS1_uc002qjv.2_Nonsense_Mutation_p.E687* NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 625 Glu-rich.|Poly-Glu. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TCCTCCTCTTCCTCATCATCA 0.632 NA 17 50 1.02788e-11 1.50717e-11 0.00499 1 0 NLRP13 126204 broad.mit.edu 37 19 56424392 56424392 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:56424392T>A uc010ygg.1 - 5 816 c.791A>T c.(790-792)TAT>TTT p.Y264F NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 264 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATAGAAAACATAGGAGAACCT 0.463 NA 14 92 0 0 0.00245 0 0 ZNF583 147949 broad.mit.edu 37 19 56934258 56934258 + Splice_Site SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:56934258A>T uc010ygl.1 + 5 398 c.233_splice c.e5-2 p.D78_splice ZNF583_uc002qnc.2_Splice_Site_p.D78_splice|ZNF583_uc010ygm.1_Splice_Site_p.D78_splice NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) GATATCTTTTAGATTGGGAGT 0.284 NA 9 32 0 0 0.004482 0 0 USP29 57663 broad.mit.edu 37 19 57640595 57640595 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:57640595G>T uc002qny.2 + 4 908 c.552G>T c.(550-552)CTG>CTT p.L184L NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 184 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGACATTCTGAAGGAAGATA 0.358 NA 33 94 6.05902e-23 1.08447e-22 0.003755 1 0 ZNF606 80095 broad.mit.edu 37 19 58490843 58490843 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:58490843T>A uc002qqw.2 - 7 1823 c.1205A>T c.(1204-1206)TAC>TTC p.Y402F ZNF606_uc010yhp.1_Missense_Mutation_p.Y312F NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 402 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) ACATTCATTGTAGTCATAGGG 0.373 NA 49 53 0 0 0.00361 0 0 ZNF135 7694 broad.mit.edu 37 19 58572990 58572990 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:58572990G>T uc010yhq.1 + 3 172 c.76G>T c.(76-78)GAG>TAG p.E26* ZNF135_uc002qre.2_Nonsense_Mutation_p.E26*|ZNF135_uc002qrd.1_5'UTR|ZNF135_uc002qrf.2_5'UTR|ZNF135_uc002qrg.2_5'UTR|ZNF135_uc010yhr.1_Intron NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 26 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CTTCAGCCAGGAGGAGTGGGG 0.592 NA 34 51 1.45844e-13 2.2756e-13 0.002836 1 0 ZNF274 10782 broad.mit.edu 37 19 58724291 58724291 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:58724291C>T uc002qrq.1 + 10 2203 c.1744C>T c.(1744-1746)CTG>TTG p.L582L ZNF274_uc002qrr.1_Silent_p.L550L|ZNF274_uc002qrs.1_Silent_p.L477L|ZNF274_uc010eum.1_Silent_p.L341L NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 582 C2H2-type 3. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) CTCCCAGCACCTGAGGACTCA 0.542 NA 15 76 0 0 0.00245 0 0 A1BG 1 broad.mit.edu 37 19 58864391 58864391 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:58864391G>C uc002qsd.3 - 3 305 c.243C>G c.(241-243)TTC>TTG p.F81L NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 81 Ig-like V-type 1. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CCGTCAGCAGGAACTGGTGCT 0.637 NA 11 63 0 0 0.001855 0 0 MYCN 4613 broad.mit.edu 37 2 16085778 16085778 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:16085778G>T uc002rci.2 + 3 1254 c.954G>T c.(952-954)CTG>CTT p.L318L MYCN_uc010yjr.1_Silent_p.L310L NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 318 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCAGCGAGCTGATCCTCAAAC 0.592 NA A neuroblastoma 10 15 3.07112e-06 3.68823e-06 0.000978 1 0 VSNL1 7447 broad.mit.edu 37 2 17830709 17830709 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:17830709C>A uc002rcm.2 + 3 579 c.195C>A c.(193-195)GCC>GCA p.A65A NM_003385 NP_003376 P62760 VISL1_HUMAN visinin-like 1 65 EF-hand 2. calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCAAGTTTGCCCAGCATGCCT 0.572 NA 25 91 7.26314e-15 1.1653e-14 0.007291 1 0 APOB 338 broad.mit.edu 37 2 21235326 21235326 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:21235326C>A uc002red.2 - 26 4542 c.4414G>T c.(4414-4416)GAC>TAC p.D1472Y NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1472 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) TTTTTGGAGTCCAAATGAACT 0.408 NA 44 50 2.62258e-09 3.54066e-09 0.002522 1 0 DNAJC27 51277 broad.mit.edu 37 2 25190085 25190085 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:25190085G>T uc002rft.1 - 2 216 c.165C>A c.(163-165)GTC>GTA p.V55V DNAJC27_uc010ykn.1_5'UTR|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.V55V NM_016544 NP_057628 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 55 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding skin(1) 1 CTTACTTTGTGACTCCATAGT 0.348 NA 23 33 9.86323e-18 1.67446e-17 0.003954 1 0 EHD3 30845 broad.mit.edu 37 2 31484546 31484546 + Silent SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:31484546A>T uc002rnu.2 + 5 1655 c.1047A>T c.(1045-1047)TCA>TCT p.S349S EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 349 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) ACCAGATCTCACCTGGGGACT 0.582 NA 21 85 0 0 0.00278 0 0 BIRC6 57448 broad.mit.edu 37 2 32613998 32613998 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:32613998C>T uc010ezu.2 + 4 960 c.826C>T c.(826-828)CGT>TGT p.R276C NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 276 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGGGCCAGGCCGTTCTGTAGA 0.433 Pancreas(94;175 1509 16028 18060 45422) NA 3 13 0 0 0.004672 0 0 LTBP1 4052 broad.mit.edu 37 2 33484662 33484662 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:33484662T>A uc002ros.2 + 13 2403 c.2403T>A c.(2401-2403)ACT>ACA p.T801T LTBP1_uc002rot.2_Silent_p.T475T|LTBP1_uc002rou.2_Silent_p.T475T|LTBP1_uc002rov.2_Silent_p.T422T|LTBP1_uc010ymz.1_Silent_p.T475T|LTBP1_uc010yna.1_Silent_p.T422T NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 801 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TAGTGGCAACTGCACCCCCTG 0.294 NA 35 97 0 0 0.00874 0 0 CRIM1 51232 broad.mit.edu 37 2 36669769 36669769 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:36669769G>T uc002rpd.2 + 4 799 c.760G>T c.(760-762)GAC>TAC p.D254Y NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 254 Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TTTCGGCGTGGACTGCAGGAC 0.468 NA 53 80 2.5401e-28 4.65229e-28 0.00361 1 0 THADA 63892 broad.mit.edu 37 2 43797577 43797577 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:43797577C>A uc002rsw.3 - 14 2489 c.2137G>T c.(2137-2139)GAG>TAG p.E713* THADA_uc010far.2_5'UTR|THADA_uc002rsx.3_Nonsense_Mutation_p.E713*|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Nonsense_Mutation_p.E423*|THADA_uc010fat.1_5'UTR|THADA_uc002rta.2_Nonsense_Mutation_p.E423*|THADA_uc002rtb.1_Nonsense_Mutation_p.E713*|THADA_uc002rtc.3_Nonsense_Mutation_p.E713*|THADA_uc002rtd.2_Nonsense_Mutation_p.E713* NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 713 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AACTCATTCTCTGGTTCACGT 0.328 NA 27 33 1.42536e-11 2.08102e-11 0.004656 1 0 EPAS1 2034 broad.mit.edu 37 2 46574200 46574200 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:46574200C>T uc002ruv.2 + 2 703 c.215C>T c.(214-216)TCA>TTA p.S72L NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 72 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CTCCTCTCCTCAGGTAAGGCC 0.587 NA 13 60 0 0 0.001855 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809666 48809666 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:48809666G>T uc010yol.1 + 1 1941 c.1894G>T c.(1894-1896)GTA>TTA p.V632L STON1_uc002rwo.3_Missense_Mutation_p.V632L|STON1_uc010fbm.2_Missense_Mutation_p.V632L|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V632L|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V632L NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 632 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) CCAGGCAGTGGTATGGAAGAT 0.428 NA 9 39 0.000673444 0.000736895 0.008291 1 0 LHCGR 3973 broad.mit.edu 37 2 48915276 48915276 + Nonsense_Mutation SNP G G A rs121912524 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:48915276G>A uc002rwu.3 - 11 1730 c.1660C>T c.(1660-1662)CGA>TGA p.R554* GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 554 Cytoplasmic (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.R554*(1) ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TCTGGGTTTCGAACTGCAAAA 0.368 NA Familial_Male-Limited_Precocious_Puberty 19 98 0 0 0.006122 0 0 NRXN1 9378 broad.mit.edu 37 2 50733715 50733715 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:50733715A>T uc010fbq.2 - 13 4012 c.2535T>A c.(2533-2535)AAT>AAA p.N845K NRXN1_uc002rxb.3_Missense_Mutation_p.N477K|NRXN1_uc002rxe.3_Missense_Mutation_p.N805K|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 173 Extracellular (Potential).|Laminin G-like. 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) ACTCGTTATCATTGAGGTTAT 0.453 NA 19 19 0 0 0.008871 0 0 NRXN1 9378 broad.mit.edu 37 2 51254933 51254934 + Missense_Mutation DNP GG GG AT TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:51254933_51254934GG>AT uc010fbq.2 - 2 1955_1956 c.478_479CC>AT c.(478-480)CCG>ATG p.P160M NRXN1_uc002rxe.3_Missense_Mutation_p.P160M|NRXN1_uc002rxd.1_Missense_Mutation_p.P160M 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) GCGCAGTTCCGGGGGCAGCCCC 0.663 NA 8 7 0 0 0.004672 0 0 SPTBN1 6711 broad.mit.edu 37 2 54872432 54872432 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:54872432C>T uc002rxu.2 + 21 4585 c.4336C>T c.(4336-4338)CTG>TTG p.L1446L SPTBN1_uc002rxx.2_Silent_p.L1433L NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1446 Spectrin 11. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGCCCAGGCCCTGAGTCAGGA 0.577 NA 18 73 0 0 0.00499 0 0 AAK1 22848 broad.mit.edu 37 2 69736519 69736519 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:69736519C>A uc002sfp.2 - 14 2355 c.1850G>T c.(1849-1851)GGA>GTA p.G617V AAK1_uc010fdk.2_Missense_Mutation_p.G617V|AAK1_uc010yqm.1_Missense_Mutation_p.G618V NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 617 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 AGTGAGAGATCCAACTTTCTG 0.557 NA 14 28 7.93312e-07 9.7214e-07 0.00245 1 0 GMCL1 64395 broad.mit.edu 37 2 70096905 70096905 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:70096905A>G uc002sfu.2 + 12 1480 c.1273A>G c.(1273-1275)ACC>GCC p.T425A NM_178439 NP_848526 Q96IK5 GMCL1_HUMAN germ cell-less 425 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix ovary(3) 3 TGTAACTTACACCAATCGATA 0.398 NA 42 75 0 0 0.003214 0 0 VAX2 25806 broad.mit.edu 37 2 71148364 71148364 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:71148364G>T uc002shh.2 + 2 416 c.384G>T c.(382-384)GTG>GTT p.V128V NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 128 Homeobox. ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGTATGTGGTGGGCCGCGAGC 0.657 NA 14 52 4.14922e-12 6.17249e-12 0.004007 1 0 ALMS1 7840 broad.mit.edu 37 2 73678725 73678725 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:73678725G>T uc002sje.1 + 10 5185 c.5074G>T c.(5074-5076)GTT>TTT p.V1692F ALMS1_uc002sjf.1_Missense_Mutation_p.V1648F|ALMS1_uc002sjg.2_Missense_Mutation_p.V1078F|ALMS1_uc002sjh.1_Missense_Mutation_p.V1078F NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1690 25.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGCTCTGAAAGTTCCACCTGT 0.438 NA 18 114 1.33834e-09 1.81403e-09 0.007413 1 0 C2orf89 129293 broad.mit.edu 37 2 85049050 85049050 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:85049050G>T uc010ysl.1 - 7 1598 c.1509C>A c.(1507-1509)CCC>CCA p.P503P C2orf89_uc002sou.3_Silent_p.P454P NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 503 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GTTACAGGAGGGGTGTCTCTG 0.572 NA 4 7 0.00909568 0.00956356 0.009096 1 0 SFTPB 6439 broad.mit.edu 37 2 85894864 85894864 + Nonsense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:85894864G>A uc002sqh.2 - 2 139 c.133C>T c.(133-135)CAA>TAA p.Q45* SFTPB_uc002sqi.2_Nonsense_Mutation_p.Q57*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.Q45* NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B 45 Saposin A-type. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 TGCAATGCTTGCTCCAGGCTT 0.592 NA 44 65 0 0 0.003214 0 0 CIAO1 9391 broad.mit.edu 37 2 96936996 96936996 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:96936996G>T uc002svs.2 + 7 1132 c.927G>T c.(925-927)GTG>GTT p.V309V NM_004804 NP_004795 O76071 CIAO1_HUMAN WD repeat domain 39 309 WD 7. chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding 0 TCAACTGTGTGGCCTGGAACC 0.602 NA 25 45 3.28513e-13 5.05632e-13 0.003954 1 0 SNRNP200 23020 broad.mit.edu 37 2 96950178 96950178 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:96950178C>A uc002svu.2 - 31 4396 c.4310G>T c.(4309-4311)CGG>CTG p.R1437L SNRNP200_uc002svt.2_Missense_Mutation_p.R47L|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_5'UTR NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1437 Helicase ATP-binding 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CTTCCATCGCCGGGAAAGTAT 0.557 NA 27 43 4.7796e-09 6.37696e-09 0.004656 1 0 VWA3B 200403 broad.mit.edu 37 2 98736075 98736075 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:98736075C>T uc002syo.2 + 4 655 c.391C>T c.(391-393)CGG>TGG p.R131W VWA3B_uc010yvh.1_Intron|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.R131W|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 131 ovary(3)|large_intestine(2)|skin(1) 6 CAGCAAGAGCCGGCAGATTTT 0.498 NA 17 163 0 0 0.00499 0 0 MGAT4A 11320 broad.mit.edu 37 2 99242232 99242232 + Missense_Mutation SNP C C A rs146487281 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:99242232C>A uc002sze.2 - 15 1849 c.1535G>T c.(1534-1536)CGA>CTA p.R512L C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.R384L|MGAT4A_uc010fil.2_Missense_Mutation_p.R266L NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 512 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 AACTGAAAGTCGAAAGGCTGA 0.338 NA 8 39 3.09899e-07 3.85769e-07 0.004482 1 0 CREG2 200407 broad.mit.edu 37 2 101967402 101967402 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:101967402C>A uc002tba.2 - 4 902 c.856G>T c.(856-858)GTT>TTT p.V286F NM_153836 NP_722578 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 286 extracellular region FMN binding ovary(1) 1 TTTCTGGGAACTGCTTTGAAA 0.418 NA 36 135 7.63091e-17 1.2764e-16 0.007835 1 0 SLC9A4 389015 broad.mit.edu 37 2 103090302 103090302 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:103090302T>A uc002tbz.3 + 1 541 c.84T>A c.(82-84)TCT>TCA p.S28S NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 28 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 AAGCATCTTCTGATTTGAATG 0.463 NA 46 152 0 0 0.00361 0 0 GCC2 9648 broad.mit.edu 37 2 109067569 109067569 + Splice_Site SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:109067569G>C uc002tec.2 + 3 302 c.148_splice c.e3+1 p.E50_splice GCC2_uc002ted.2_Intron NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AGGTGTACAGGTATTGGGTTG 0.358 NA 10 33 0 0 0.006214 0 0 RANBP2 5903 broad.mit.edu 37 2 109380142 109380142 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:109380142A>G uc002tem.3 + 20 3273 c.3147A>G c.(3145-3147)CCA>CCG p.P1049P NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1049 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TTTCCTCACCACAGGTTGTGA 0.443 NA 17 128 0 0 0.008871 0 0 CCDC138 165055 broad.mit.edu 37 2 109408185 109408185 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:109408185A>G uc002ten.1 + 4 381 c.321A>G c.(319-321)GAA>GAG p.E107E CCDC138_uc002teo.1_Silent_p.E107E|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 107 0 AAACAGAAGAAGAGTTAATTG 0.274 NA 22 79 0 0 0.00333 0 0 CCDC138 165055 broad.mit.edu 37 2 109415040 109415040 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:109415040G>T uc002ten.1 + 6 793 c.733G>T c.(733-735)GAG>TAG p.E245* CCDC138_uc002teo.1_Nonsense_Mutation_p.E245*|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 245 Potential. 0 AATTATAAAAGAGGTAACTAT 0.294 NA 15 49 6.31663e-08 8.08971e-08 0.003163 1 0 CCDC93 54520 broad.mit.edu 37 2 118753904 118753904 + Missense_Mutation SNP T T A rs113727191 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:118753904T>A uc002tlj.2 - 5 524 c.398A>T c.(397-399)GAG>GTG p.E133V CCDC93_uc010fld.1_Missense_Mutation_p.E133V NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 133 large_intestine(1)|ovary(1) 2 GTCACCCATCTCTTCTTTTGT 0.448 NA 14 38 0 0 0.004007 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122004483 122004483 + Nonsense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:122004483G>A uc002tmx.2 - 6 661 c.568C>T c.(568-570)CGA>TGA p.R190* TFCP2L1_uc010flr.2_Nonsense_Mutation_p.R190* NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 190 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) ATCTGGACTCGAAAGGGCACT 0.567 NA 14 47 0 0 0.001855 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261947 125261947 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:125261947C>A uc002tno.2 + 8 1502 c.1138C>A c.(1138-1140)CTG>ATG p.L380M CNTNAP5_uc010flu.2_Missense_Mutation_p.L381M NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 380 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CTATTTGCTGCTGCCCGGCAC 0.502 NA 24 39 1.04121e-07 1.32189e-07 0.005443 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125281974 125281974 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:125281974G>A uc002tno.2 + 9 1783 c.1419G>A c.(1417-1419)CCG>CCA p.P473P CNTNAP5_uc010flu.2_Silent_p.P474P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 473 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CAGCACCCCCGGCTCCAGACA 0.493 NA 11 17 0 0 0.008291 0 0 MAP3K2 10746 broad.mit.edu 37 2 128075837 128075837 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:128075837C>G uc002toj.1 - 12 1167 c.1102G>C c.(1102-1104)GGA>CGA p.G368R NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 368 Protein kinase.|ATP (By similarity). activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TAGACCCTTCCAAAGGCTCCT 0.443 NA 7 50 0 0 0.001984 0 0 MYO7B 4648 broad.mit.edu 37 2 128367543 128367543 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:128367543G>T uc002top.2 + 24 3197 c.3144G>T c.(3142-3144)CTG>CTT p.L1048L NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1048 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ATGACACGCTGGGCAGGGAGC 0.627 NA 7 9 1.06961e-07 1.35626e-07 0.00308 1 0 MCM6 4175 broad.mit.edu 37 2 136623838 136623838 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:136623838G>C uc002tuw.2 - 6 867 c.791C>G c.(790-792)GCA>GGA p.A264G NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 264 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) ATTAGTTTCTGCACGTGCTCC 0.413 Ovarian(196;141 2104 8848 24991 25939) NA 5 192 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 141291702 141291702 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:141291702T>A uc002tvj.1 - 47 8622 c.7650A>T c.(7648-7650)AGA>AGT p.R2550S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2550 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) TTCGACAGCTTCTGTTTTCTT 0.353 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 9 22 0 0 0.008291 0 0 ZEB2 9839 broad.mit.edu 37 2 145187456 145187456 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:145187456A>G uc002tvu.2 - 3 691 c.211T>C c.(211-213)TCC>CCC p.S71P ZEB2_uc002tvv.2_Missense_Mutation_p.S66P|ZEB2_uc010zbm.1_Missense_Mutation_p.S66P|ZEB2_uc010fnp.2_Missense_Mutation_p.S66P|ZEB2_uc010fnq.1_Missense_Mutation_p.S100P|ZEB2_uc002tvw.2_Missense_Mutation_p.S66P NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 71 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ACGTGTGGGGAGGACTCATGG 0.522 Melanoma(33;1235 1264 5755 16332) NA 15 60 0 0 0.004007 0 0 NEB 4703 broad.mit.edu 37 2 152432208 152432208 + Splice_Site SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:152432208C>T uc010fnx.2 - 79 12101 c.11910_splice c.e79+1 p.N3970_splice NEB_uc002txr.2_Splice_Site_p.N393_splice NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 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) GTAGTACTTACATTGCTCACA 0.423 NA 64 155 0 0 0.00361 0 0 GPD2 2820 broad.mit.edu 37 2 157426037 157426037 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:157426037G>C uc002tzf.3 + 11 1823 c.1463G>C c.(1462-1464)GGA>GCA p.G488A GPD2_uc010zch.1_Missense_Mutation_p.G261A|GPD2_uc002tzd.3_Missense_Mutation_p.G488A|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 488 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 CAGGATTATGGACTTGAAAGC 0.468 NA 12 69 0 0 0.001368 0 0 GALNT5 11227 broad.mit.edu 37 2 158142619 158142619 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:158142619A>T uc002tzg.2 + 3 1969 c.1714A>T c.(1714-1716)AGG>TGG p.R572W GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 572 Catalytic subdomain A.|Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 AATAAGGGCCAGGCTGGCAGG 0.308 NA 10 31 0 0 0.001368 0 0 BAZ2B 29994 broad.mit.edu 37 2 160194283 160194283 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:160194283C>A uc002uao.2 - 32 5807 c.5455G>T c.(5455-5457)GGT>TGT p.G1819C BAZ2B_uc002uap.2_Missense_Mutation_p.G1783C NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1819 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CACATCCAACCCTATATATCA 0.368 NA 16 52 0.000422831 0.000465661 0.004007 1 0 DPP4 1803 broad.mit.edu 37 2 162895493 162895493 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:162895493T>A uc002ubz.2 - 7 1019 c.458A>T c.(457-459)CAG>CTG p.Q153L DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 153 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TGTGACCCACTGTGTGTTGTT 0.373 NA 25 53 0 0 0.008361 0 0 SCN1A 6323 broad.mit.edu 37 2 166901690 166901690 + Nonsense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:166901690G>A uc010zcz.1 - 10 1543 c.1525C>T c.(1525-1527)CAG>TAG p.Q509* SCN1A_uc002udo.3_Nonsense_Mutation_p.Q378*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.Q378* NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 509 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) CCACCAGACTGCTCTTTCTGT 0.458 NA 59 240 0 0 0.00361 0 0 SCN9A 6335 broad.mit.edu 37 2 167060953 167060953 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:167060953T>A uc010fpl.2 - 25 4728 c.4387A>T c.(4387-4389)ATG>TTG p.M1463L uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1474 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTCTGTCATAAAGATGTCT 0.323 NA 6 31 0 0 0.001168 0 0 SCN9A 6335 broad.mit.edu 37 2 167168061 167168061 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:167168061C>A uc010fpl.2 - 2 547 c.206G>T c.(205-207)GGC>GTC p.G69V NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 69 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TGACACCATGCCGGGAGGAAT 0.483 NA 27 57 1.17739e-12 1.79062e-12 0.005443 1 0 XIRP2 129446 broad.mit.edu 37 2 168107344 168107344 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:168107344G>A uc002udx.2 + 8 9460 c.9442G>A c.(9442-9444)GAC>AAC p.D3148N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2973N|XIRP2_uc010fpq.2_Missense_Mutation_p.D2926N|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2973 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CCCTAAAAAGGACAGTTATGT 0.468 NA 23 66 0 0 0.00333 0 0 LRP2 4036 broad.mit.edu 37 2 170042416 170042416 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:170042416G>T uc002ues.2 - 50 9655 c.9442C>A c.(9442-9444)CGG>AGG p.R3148R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3148 EGF-like 11.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACAAGTCCGCTTGTCAGAC 0.468 NA 37 72 2.05212e-20 3.57895e-20 0.005524 1 0 DLX1 1745 broad.mit.edu 37 2 172952919 172952919 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:172952919C>A uc002uhl.2 + 3 900 c.702C>A c.(700-702)ATC>ATA p.I234I DLX1_uc002uhm.2_3'UTR NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 234 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) GCTCCTATATCCCCAGCTACA 0.627 NA 29 76 4.15321e-07 5.16372e-07 0.009535 1 0 TTN 7273 broad.mit.edu 37 2 179408023 179408023 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179408023G>T uc010zfg.1 - 296 89197 c.88973C>A c.(88972-88974)CCA>CAA p.P29658Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23353Q|TTN_uc010zfi.1_Missense_Mutation_p.P23286Q|TTN_uc010zfj.1_Missense_Mutation_p.P23161Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30585 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) ATCGTAGAGTGGTTTTTCCCA 0.502 NA 16 100 4.7546e-09 6.3519e-09 0.004007 1 0 TTN 7273 broad.mit.edu 37 2 179413591 179413591 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179413591G>C uc010zfg.1 - 288 85282 c.85058C>G c.(85057-85059)ACA>AGA p.T28353R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T22048R|TTN_uc010zfi.1_Missense_Mutation_p.T21981R|TTN_uc010zfj.1_Missense_Mutation_p.T21856R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29280 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) CTCAGGAGCTGTTAACCGGTC 0.458 NA 15 59 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179432942 179432942 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179432942G>T uc010zfg.1 - 275 70437 c.70213C>A c.(70213-70215)CAA>AAA p.Q23405K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q17100K|TTN_uc010zfi.1_Missense_Mutation_p.Q17033K|TTN_uc010zfj.1_Missense_Mutation_p.Q16908K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24332 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) GCAAAGCTTTGTCCATATCTG 0.413 NA 45 126 4.0181e-32 7.53486e-32 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179434396 179434396 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179434396C>A uc010zfg.1 - 275 68983 c.68759G>T c.(68758-68760)GGA>GTA p.G22920V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16615V|TTN_uc010zfi.1_Missense_Mutation_p.G16548V|TTN_uc010zfj.1_Missense_Mutation_p.G16423V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23847 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) TTCTCCAACTCCAGCTTTATT 0.368 NA 8 26 5.4927e-09 7.29032e-09 0.004482 1 0 TTN 7273 broad.mit.edu 37 2 179529215 179529216 + Missense_Mutation DNP GG GG TT TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179529215_179529216GG>TT uc010zfk.1 - 13 1237_1238 c.689_690CC>AA c.(688-690)CCC>CAA p.P230Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CAGCCCTTTGGGGAGGATGCAC 0.411 NA 41 107 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179594234 179594234 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179594234C>A uc010zfg.1 - 61 15141 c.14917G>T c.(14917-14919)GAG>TAG p.E4973* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E1634* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5900 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) CACTCCAGCTCCACGTCACTA 0.448 NA 30 69 2.65835e-16 4.39616e-16 0.007291 1 0 TTN 7273 broad.mit.edu 37 2 179610535 179610535 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179610535G>T uc002unb.2 - 46 16816 c.16592C>A c.(16591-16593)GCA>GAA p.A5531E TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTGAAAATATGCTGCTGTACC 0.428 NA 17 88 4.7546e-09 6.3519e-09 0.004007 1 0 TTN 7273 broad.mit.edu 37 2 179614934 179614934 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:179614934G>T uc002unb.2 - 46 12417 c.12193C>A c.(12193-12195)CAA>AAA p.Q4065K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CCTTTTGCTTGGTCAAACACC 0.413 NA 23 53 1.64293e-13 2.55567e-13 0.00333 1 0 ITGA4 3676 broad.mit.edu 37 2 182344887 182344887 + Silent SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:182344887A>T uc002unu.2 + 6 1411 c.648A>T c.(646-648)CCA>CCT p.P216P ITGA4_uc010zfl.1_Silent_p.P216P NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 216 FG-GAP 3.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGGGGGCCCCAGGATCATCTT 0.333 NA 13 29 0 0 0.00245 0 0 DNAJC10 54431 broad.mit.edu 37 2 183586760 183586760 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:183586760G>A uc002uow.1 + 5 791 c.376G>A c.(376-378)GAT>AAT p.D126N DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.D126N|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 126 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) aGGTATTTATGATGATGATCC 0.219 Pancreas(56;860 1183 25669 35822 48585) NA 11 52 0 0 0.008291 0 0 ZC3H15 55854 broad.mit.edu 37 2 187371499 187371499 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:187371499A>G uc002upo.2 + 9 1251 c.1026A>G c.(1024-1026)GTA>GTG p.V342V NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 342 V -> A (in Ref. 2; AAF28981). cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) CAAGAGATGTAGATGAAACAG 0.318 NA 41 71 0 0 0.007835 0 0 DIRC1 116093 broad.mit.edu 37 2 189599535 189599535 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:189599535G>C uc002uqi.1 - 2 384 c.113C>G c.(112-114)CCC>CGC p.P38R NM_052952 NP_443184 Q969H9 DIRC1_HUMAN disrupted in renal carcinoma 1 38 0 OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102) TATACACATGGGGTGGGCATT 0.473 NA 26 96 0 0 0.00632 0 0 COL3A1 1281 broad.mit.edu 37 2 189868867 189868867 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:189868867C>A uc002uqj.1 + 39 2938 c.2821C>A c.(2821-2823)CCA>ACA p.P941T NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 941 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCAGGGCCCACCAGTAAGTAA 0.448 NA 9 27 1.76689e-08 2.29449e-08 0.006214 1 0 COL5A2 1290 broad.mit.edu 37 2 189917528 189917528 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:189917528C>G uc002uqk.2 - 40 2937 c.2662G>C c.(2662-2664)GGT>CGT p.G888R COL5A2_uc010frx.2_Missense_Mutation_p.G464R NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 888 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCATTAGGACCCTGAATAGAA 0.423 NA 7 46 0 0 0.00308 0 0 STK17B 9262 broad.mit.edu 37 2 197002295 197002295 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:197002295C>T uc002utk.2 - 8 1319 c.995G>A c.(994-996)GGA>GAA p.G332E STK17B_uc010fsh.2_Missense_Mutation_p.G332E NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 332 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) ACCACAGGTTCCATTACAGGA 0.418 NA 32 78 0 0 0.002096 0 0 ANKRD44 91526 broad.mit.edu 37 2 197943539 197943540 + Splice_Site DNP CT CT TG TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:197943539_197943540CT>TG uc002uua.1 - 16 1541 c.1464_splice c.e16-1 p.L488_splice ANKRD44_uc002utz.3_Splice_Site_p.L220_splice|ANKRD44_uc002uub.2_Intron|ANKRD44_uc010zgw.1_Intron NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTCTAGACATCTGTAAGTATAA 0.371 NA 8 21 0 0 0.004672 0 0 PLCL1 5334 broad.mit.edu 37 2 198950287 198950287 + Silent SNP G G T rs144487956 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:198950287G>T uc010fsp.2 + 2 2337 c.2046G>T c.(2044-2046)ACG>ACT p.T682T PLCL1_uc002uuv.3_Silent_p.T603T NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 682 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) ACCTTCACACGGGCTGGTTTC 0.443 NA 13 96 1.36491e-13 2.13293e-13 0.001855 1 0 MAP2 4133 broad.mit.edu 37 2 210574774 210574774 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:210574774C>T uc002vde.1 + 12 5117 c.4869C>T c.(4867-4869)CCC>CCT p.P1623P MAP2_uc002vdd.1_Silent_p.P324P|MAP2_uc002vdf.1_Silent_p.P267P|MAP2_uc002vdg.1_Silent_p.P267P|MAP2_uc002vdh.1_Silent_p.P324P|MAP2_uc002vdi.1_Silent_p.P1619P NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1623 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTAGCTATCCCAGGACCCCTC 0.572 Pancreas(27;423 979 28787 29963) NA 3 74 0 0 0.004672 0 0 ERBB4 2066 broad.mit.edu 37 2 212248511 212248511 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:212248511G>A uc002veg.1 - 28 3854 c.3756C>T c.(3754-3756)ACC>ACT p.T1252T ERBB4_uc002veh.1_Silent_p.T1236T|ERBB4_uc010zji.1_Silent_p.T1242T|ERBB4_uc010zjj.1_Silent_p.T1226T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1252 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GGTGCTGAAGGGTGCTCCGAG 0.493 NA TSP Lung(8;0.080) 21 63 0 0 0.00333 0 0 ERBB4 2066 broad.mit.edu 37 2 212530091 212530091 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:212530091G>T uc002veg.1 - 15 1926 c.1828C>A c.(1828-1830)CCA>ACA p.P610T ERBB4_uc002veh.1_Missense_Mutation_p.P610T|ERBB4_uc010zji.1_Missense_Mutation_p.P610T|ERBB4_uc010zjj.1_Missense_Mutation_p.P610T|ERBB4_uc010fut.1_Missense_Mutation_p.P610T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 610 Extracellular (Potential).|Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCCGATCTGGATCAGCATAC 0.468 NA TSP Lung(8;0.080) 20 65 1.96292e-10 2.75943e-10 0.010504 1 0 IKZF2 22807 broad.mit.edu 37 2 213914437 213914437 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:213914437C>A uc002vem.2 - 5 743 c.574G>T c.(574-576)GTG>TTG p.V192L IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.V139L|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.V166L|IKZF2_uc002vel.2_Missense_Mutation_p.V113L|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_5'UTR|IKZF2_uc010fuy.2_Missense_Mutation_p.V166L|IKZF2_uc002ven.2_Missense_Mutation_p.V166L NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGACACTTACCAGAATGGGTC 0.428 NA 22 58 4.26978e-12 6.3426e-12 0.00333 1 0 PNKD 25953 broad.mit.edu 37 2 219204767 219204767 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:219204767C>G uc002vhn.2 + 4 512 c.368C>G c.(367-369)CCC>CGC p.P123R PNKD_uc002vhq.2_Missense_Mutation_p.P99R NM_015488 NP_056303 Q8N490 PNKD_HUMAN myofibrillogenesis regulator 1 isoform 1 123 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGGTGCTTCCCATCCCTGTC 0.647 NA 19 40 0 0 0.008871 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098546 220098546 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:220098546A>C uc002vkg.2 + 8 1103 c.929A>C c.(928-930)AAG>ACG p.K310T ANKZF1_uc010zkv.1_Missense_Mutation_p.K254T|ANKZF1_uc010zkw.1_Missense_Mutation_p.K100T|ANKZF1_uc002vkh.2_Missense_Mutation_p.K100T|ANKZF1_uc002vki.2_Missense_Mutation_p.K310T|ANKZF1_uc002vkj.1_Missense_Mutation_p.K298T NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 310 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTTGGAGGCAAGGGAGCACCC 0.622 NA 16 54 0 0 0.006122 0 0 KIAA1486 57624 broad.mit.edu 37 2 226446931 226446931 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:226446931C>T uc002voe.2 + 4 973 c.798C>T c.(796-798)GCC>GCT p.A266A KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.A36A NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 266 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGAGCGAGGCCGTCTACGAGG 0.562 NA 41 87 0 0 0.00623 0 0 COL4A3 1285 broad.mit.edu 37 2 228119376 228119376 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:228119376T>A uc002vom.1 + 15 995 c.833T>A c.(832-834)CTG>CAG p.L278Q COL4A3_uc002von.1_Missense_Mutation_p.L278Q|COL4A3_uc002voo.1_Missense_Mutation_p.L278Q|COL4A3_uc002vop.1_Missense_Mutation_p.L278Q|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 278 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) ATACAGGGACTGCCTGGAGAA 0.353 NA 28 70 0 0 0.007291 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882763 228882763 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:228882763G>C uc002vpq.2 - 7 2854 c.2807C>G c.(2806-2808)ACG>AGG p.T936R SPHKAP_uc002vpp.2_Missense_Mutation_p.T936R|SPHKAP_uc010zlx.1_Missense_Mutation_p.T936R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 936 PKA-RII subunit binding domain (By similarity). 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) GGAGACGACCGTGTCTGCTAA 0.473 NA 21 124 0 0 0.010504 0 0 COL6A3 1293 broad.mit.edu 37 2 238287867 238287867 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:238287867T>C uc002vwl.2 - 6 2194 c.1909A>G c.(1909-1911)AAA>GAA p.K637E COL6A3_uc002vwo.2_Missense_Mutation_p.K431E|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.K431E|COL6A3_uc002vwr.2_Missense_Mutation_p.K230E|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 637 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) ATATCCCTTTTGTTTGAGTGA 0.418 NA 7 57 0 0 0.00308 0 0 OR6B3 150681 broad.mit.edu 37 2 240985276 240985276 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:240985276A>T uc010zoe.1 - 1 214 c.214T>A c.(214-216)TGG>AGG p.W72R PRR21_uc010zod.1_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GACACGTACCAGATCTCTAGG 0.557 NA 20 66 0 0 0.00278 0 0 AQP12B 653437 broad.mit.edu 37 2 241622087 241622087 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:241622087C>G uc010fzj.2 - 1 231 c.168G>C c.(166-168)ACG>ACC p.T56T AQP12B_uc002vzt.2_Intron NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN aquaporin 12B 44 integral to membrane transporter activity 0 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCTCGACCAGCGTCCTCATCT 0.701 NA 6 43 0 0 0.001168 0 0 SIRPG 55423 broad.mit.edu 37 20 1629708 1629708 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:1629708C>A uc002wfm.1 - 2 485 c.420G>T c.(418-420)ATG>ATT p.M140I SIRPG_uc002wfn.1_Missense_Mutation_p.M140I|SIRPG_uc002wfo.1_Missense_Mutation_p.M140I NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 140 Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 CACCCAAAGCCATCTCAGTGC 0.488 NA 23 85 3.28513e-13 5.05632e-13 0.003954 1 0 FASTKD5 60493 broad.mit.edu 37 20 3127960 3127960 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:3127960C>A uc002whz.2 - 2 2068 c.1757G>T c.(1756-1758)CGA>CTA p.R586L uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 586 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 GTCAGAAGATCGGGTATGAGG 0.448 NA 35 86 4.65686e-17 7.80216e-17 0.003755 1 0 FASTKD5 60493 broad.mit.edu 37 20 3129681 3129681 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:3129681T>C uc002whz.2 - 2 347 c.36A>G c.(34-36)AGA>AGG p.R12R uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 12 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 ATGCTCGGTATCTTACAAGTT 0.473 NA 32 38 0 0 0.002445 0 0 ADRA1D 146 broad.mit.edu 37 20 4202212 4202212 + Nonsense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:4202212G>C uc002wkr.2 - 2 1732 c.1677C>G c.(1675-1677)TAC>TAG p.Y559* NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 559 Cytoplasmic (By similarity). KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CGGCCAATTCGTAGGCCTGGC 0.667 NA 6 31 0 0 0.001168 0 0 SEL1L2 80343 broad.mit.edu 37 20 13858199 13858199 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:13858199G>T uc010gcf.2 - 11 1075 c.993C>A c.(991-993)GCC>GCA p.A331A SEL1L2_uc002woq.3_Silent_p.A192A|SEL1L2_uc010zrl.1_Silent_p.A331A|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 331 Extracellular (Potential).|Sel1-like 5. integral to membrane binding ovary(2) 2 TTGCACTCCCGGCCTTTGCTG 0.318 NA 11 52 1.05317e-09 1.43896e-09 0.00245 1 0 SNX5 27131 broad.mit.edu 37 20 17932182 17932182 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:17932182C>A uc002wqc.2 - 6 657 c.571G>T c.(571-573)GTG>TTG p.V191L SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.V191L|SNX5_uc002wqe.2_Missense_Mutation_p.V86L|SNX5_uc010zrt.1_Missense_Mutation_p.V191L NM_014426 NP_055241 Q9Y5X3 SNX5_HUMAN sorting nexin 5 191 cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding large_intestine(1) 1 GCACTTTTCACCACACTTTTG 0.358 NA 33 75 4.14481e-20 7.21634e-20 0.00623 1 0 ZNF133 7692 broad.mit.edu 37 20 18297168 18297168 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:18297168G>T uc010gcq.2 + 5 1978 c.1673G>T c.(1672-1674)GGC>GTC p.G558V ZNF133_uc010zrv.1_Missense_Mutation_p.G561V|ZNF133_uc010zrw.1_Missense_Mutation_p.G495V|ZNF133_uc010gcr.2_Missense_Mutation_p.G558V|ZNF133_uc010zrx.1_Missense_Mutation_p.G463V|ZNF133_uc002wql.3_Missense_Mutation_p.G557V|ZNF133_uc010gcs.2_Missense_Mutation_p.G557V|ZNF133_uc010zry.1_Missense_Mutation_p.G463V|ZNF133_uc002wqm.2_Missense_Mutation_p.G558V NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 558 C2H2-type 13. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 TGTGGACTGGGCTTTGGCAAT 0.562 NA 11 29 2.80697e-09 3.77464e-09 0.000978 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20582347 20582347 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:20582347T>C uc002wrz.2 - 16 2325 c.2182A>G c.(2182-2184)ATT>GTT p.I728V RALGAPA2_uc010gcx.2_Missense_Mutation_p.I432V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.I129V NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 728 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TGGCGAACAATATTTCTTGCC 0.398 NA 3 50 0 0 0.004672 0 0 BPIL3 128859 broad.mit.edu 37 20 31627309 31627309 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:31627309C>T uc010zuc.1 + 10 1057 c.1057C>T c.(1057-1059)CTC>TTC p.L353F BPIL3_uc010zud.1_Missense_Mutation_p.L292F NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 353 extracellular region lipid binding ovary(1)|pancreas(1) 2 TCCAATGTCCCTCTTTCTCCT 0.537 NA 72 98 0 0 0.00361 0 0 DLGAP4 22839 broad.mit.edu 37 20 35128633 35128633 + Nonsense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:35128633C>T uc002xff.2 + 10 2557 c.2122C>T c.(2122-2124)CGA>TGA p.R708* DLGAP4_uc010zvp.1_Nonsense_Mutation_p.R708*|DLGAP4_uc002xfg.2_Nonsense_Mutation_p.R4*|DLGAP4_uc002xfh.2_Nonsense_Mutation_p.R172*|DLGAP4_uc002xfi.2_Nonsense_Mutation_p.R17*|DLGAP4_uc002xfj.2_Nonsense_Mutation_p.R4* NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 711 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TATGTCCTCCCGACGGGACAC 0.597 NA 14 21 0 0 0.004007 0 0 DSN1 79980 broad.mit.edu 37 20 35390863 35390863 + Splice_Site SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:35390863C>T uc010gfr.2 - 6 963 c.590_splice c.e6+1 p.G197_splice DSN1_uc002xfz.2_Splice_Site_p.G197_splice|DSN1_uc002xfy.3_Splice_Site|DSN1_uc002xga.2_Splice_Site_p.G197_splice|DSN1_uc010zvs.1_Splice_Site_p.G90_splice|DSN1_uc002xgc.2_Splice_Site_p.G181_splice|DSN1_uc002xgb.2_Splice_Site_p.G181_splice NM_001145316 NP_001138788 Q9H410 DSN1_HUMAN DSN1, MIND kinetochore complex component, cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding ovary(2) 2 Myeloproliferative disorder(115;0.00874) ACTGCTCTTACCCATTTGAAT 0.274 NA 12 16 0 0 0.00245 0 0 JPH2 57158 broad.mit.edu 37 20 42788285 42788285 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:42788285C>A uc002xli.1 - 2 2015 c.1142G>T c.(1141-1143)CGC>CTC p.R381L NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 381 Ala-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCCTTCTGGCGCGCGATAGC 0.672 NA 7 9 0.000157383 0.000175596 0.00308 1 0 HNF4A 3172 broad.mit.edu 37 20 43034844 43034844 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:43034844G>T uc002xma.2 + 2 351 c.262G>T c.(262-264)GTG>TTG p.V88L HNF4A_uc010zwo.1_Silent_p.A78A|HNF4A_uc002xlt.2_Missense_Mutation_p.V66L|HNF4A_uc002xlu.2_Missense_Mutation_p.V66L|HNF4A_uc002xlv.2_Missense_Mutation_p.V66L|HNF4A_uc002xly.2_Missense_Mutation_p.V88L|HNF4A_uc002xlz.2_Missense_Mutation_p.V88L|HNF4A_uc010ggq.2_Missense_Mutation_p.V81L NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 88 Nuclear receptor. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCGGAGGAGCGTGCGGAAGAA 0.542 Colon(79;2 1269 8820 14841 52347) NA 21 44 1.87028e-06 2.2728e-06 0.001882 1 0 SLC12A5 57468 broad.mit.edu 37 20 44680367 44680367 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:44680367G>T uc010zxl.1 + 18 2380 c.2304G>T c.(2302-2304)GTG>GTT p.V768V SLC12A5_uc002xrb.2_Silent_p.V745V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 768 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCCAGGTGGTGATCTCCTCCA 0.627 NA 15 68 0.000219431 0.000244291 0.00245 1 0 ATP9A 10079 broad.mit.edu 37 20 50346457 50346457 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:50346457C>A uc002xwg.1 - 2 129 c.129G>T c.(127-129)CTG>CTT p.L43L ATP9A_uc010gih.1_Silent_p.L28L NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 43 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CGGGGTGCCCCAGCCAGACAG 0.597 NA 25 69 7.38237e-10 1.01819e-09 0.00632 1 0 TSHZ2 128553 broad.mit.edu 37 20 51870965 51870965 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:51870965G>T uc002xwo.2 + 2 1924 c.968G>T c.(967-969)CGC>CTC p.R323L NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 323 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GCTAAGAAACGCGTTTTTGAT 0.458 NA 18 80 7.07596e-05 8.00845e-05 0.006122 1 0 ZNF217 7764 broad.mit.edu 37 20 52193350 52193350 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:52193350C>A uc002xwq.3 - 3 2224 c.1953G>T c.(1951-1953)CCG>CCT p.P651P ZNF217_uc010gij.1_Silent_p.P643P NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 651 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.P651S(2) skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TACTGCCATCCGGAGGAGGAG 0.493 NA 128 133 2.87069e-51 5.50439e-51 0.00361 1 0 CBLN4 140689 broad.mit.edu 37 20 54578972 54578972 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:54578972T>C uc002xxa.2 - 1 1041 c.256A>G c.(256-258)ATG>GTG p.M86V NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 86 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) TTGTTGCTCATCTCGGATGGC 0.647 NA 47 262 0 0 0.00361 0 0 CASS4 57091 broad.mit.edu 37 20 55012264 55012264 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:55012264T>A uc002xxp.2 + 3 306 c.81T>A c.(79-81)TCT>TCA p.S27S CASS4_uc002xxq.3_Silent_p.S27S|CASS4_uc002xxr.2_Silent_p.S27S|CASS4_uc010zze.1_Silent_p.S27S|CASS4_uc010gio.2_Silent_p.S27S NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 27 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CTGACTGCTCTGACGAGCTGG 0.572 NA 4 133 0 0 0.000602 0 0 CTCFL 140690 broad.mit.edu 37 20 56087660 56087660 + Nonsense_Mutation SNP A A T rs150326376 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:56087660A>T uc010gix.1 - 7 2141 c.1479T>A c.(1477-1479)TAT>TAA p.Y493* CTCFL_uc010giw.1_Nonsense_Mutation_p.Y493*|CTCFL_uc002xym.2_Nonsense_Mutation_p.Y493*|CTCFL_uc010giz.1_Nonsense_Mutation_p.Y81*|CTCFL_uc010giy.1_Nonsense_Mutation_p.Y163*|CTCFL_uc010gja.1_Nonsense_Mutation_p.Y443*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.Y493*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.Y493*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.Y493*|CTCFL_uc010gje.2_Nonsense_Mutation_p.Y493*|CTCFL_uc010gjf.2_Nonsense_Mutation_p.Y288*|CTCFL_uc010gjg.2_Nonsense_Mutation_p.Y225*|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Nonsense_Mutation_p.Y288*|CTCFL_uc010gjj.1_Nonsense_Mutation_p.Y493* NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 493 C2H2-type 9. cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GCTTGCAGGCATAACTGCAGT 0.463 NA 33 127 0 0 0.003755 0 0 GNAS 2778 broad.mit.edu 37 20 57485075 57485075 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:57485075T>C uc002xzw.2 + 11 3123 c.2838T>C c.(2836-2838)GCT>GCC p.A946A GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.A244A|GNAS_uc002xzx.2_Silent_p.A244A|GNAS_uc010gjr.2_Silent_p.A194A|GNAS_uc002xzy.2_Silent_p.A229A|GNAS_uc002yaa.2_Silent_p.A289A|GNAS_uc010zzt.1_Silent_p.A304A|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.A194A|GNAS_uc002yae.2_Silent_p.A228A NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 303 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AAGTCCTTGCTGGGAAATCGA 0.507 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 31 190 0 0 0.002445 0 0 TH1L 51497 broad.mit.edu 37 20 57565975 57565975 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:57565975G>C uc002yag.2 + 8 853 c.826G>C c.(826-828)GCC>CCC p.A276P TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.A276P NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 276 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) AGGTCATGACGCCAGTCAGAT 0.507 NA 63 78 0 0 0.00361 0 0 DIDO1 11083 broad.mit.edu 37 20 61512318 61512318 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:61512318G>A uc002ydr.1 - 16 5254 c.4990C>T c.(4990-4992)CCT>TCT p.P1664S DIDO1_uc002yds.1_Missense_Mutation_p.P1664S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1664 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GCGCCGCAAGGCGGTGTGGGC 0.731 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 4 20 0 0 0.009096 0 0 OPRL1 4987 broad.mit.edu 37 20 62730101 62730101 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr20:62730101G>T uc002yic.2 + 5 1464 c.1062G>T c.(1060-1062)AAG>AAT p.K354N OPRL1_uc002yid.2_Missense_Mutation_p.K354N|OPRL1_uc002yif.3_Missense_Mutation_p.K349N NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 354 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCATTGCCAAGGACGTGGCCC 0.642 NA 14 18 1.05317e-09 1.43896e-09 0.00245 1 0 HSPA13 6782 broad.mit.edu 37 21 15753637 15753637 + Missense_Mutation SNP C C A rs140867763 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:15753637C>A uc002yjt.2 - 2 322 c.253G>T c.(253-255)GTA>TTA p.V85L HSPA13_uc011abx.1_5'UTR NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 85 endoplasmic reticulum|microsome ATP binding kidney(1) 1 GCCAGCTCTACGCTTTCATAT 0.403 NA 29 67 1.12875e-08 1.48658e-08 0.00632 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28296446 28296446 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:28296446G>T uc002ymg.2 - 8 3448 c.2719C>A c.(2719-2721)CGG>AGG p.R907R NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 907 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GCTAACTTCCGGTTTCCATCC 0.527 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 19 41 6.94344e-10 9.60243e-10 0.006122 1 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655173 31655173 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:31655173G>T uc002ynv.2 - 1 104 c.78C>A c.(76-78)ATC>ATA p.I26I NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 26 keratin filament structural molecule activity 0 AGGTCACTGGGATATAACAGT 0.493 NA 11 37 6.40141e-05 7.26916e-05 0.000978 1 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691968 31691968 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:31691968A>T uc002ynw.2 - 1 640 c.386T>A c.(385-387)CTC>CAC p.L129H NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 129 intermediate filament ovary(1) 1 GTAACTATTGAGCAGCGGCCT 0.532 NA 26 139 0 0 0.003954 0 0 C21orf45 54069 broad.mit.edu 37 21 33651133 33651133 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:33651133C>A uc002ypi.2 - 1 244 c.193G>T c.(193-195)GAG>TAG p.E65* C21orf45_uc011adn.1_Nonsense_Mutation_p.E65* NM_018944 NP_061817 Q9NYP9 MS18A_HUMAN chromosome 21 open reading frame 45 65 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm 0 TGCGCCCTCTCCATGTCGGCC 0.692 NA 4 4 0.00909568 0.00956356 0.009096 1 0 PCP4 5121 broad.mit.edu 37 21 41239372 41239372 + Translation_Start_Site SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:41239372C>A uc002yyp.2 + 1 26 c.-55C>A c.(-57--53)CCCTG>CCATG NM_006198 NP_006189 P48539 PCP4_HUMAN Purkinje cell protein 4 central nervous system development cytosol|nucleus large_intestine(1) 1 Prostate(19;2.65e-06)|all_epithelial(19;0.138) GCAGCGACCCCTGAGCAGTGT 0.552 NA OREG0026223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 37 0.00244969 0.00263258 0.00245 1 0 DSCAM 1826 broad.mit.edu 37 21 42080435 42080435 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:42080435G>T uc002yyq.1 - 2 758 c.306C>A c.(304-306)TGC>TGA p.C102* DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 102 Extracellular (Potential).|Ig-like C2-type 1. 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) TTTCAGCTGTGCAATAATAAG 0.478 Melanoma(134;970 1778 1785 21664 32388) NA 34 92 9.8876e-21 1.73033e-20 0.004878 1 0 UBASH3A 53347 broad.mit.edu 37 21 43863444 43863444 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:43863444C>A uc002zbe.2 + 13 1690 c.1654C>A c.(1654-1656)CTC>ATC p.L552I UBASH3A_uc002zbf.2_Missense_Mutation_p.L514I|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Intron NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 552 Phosphatase-like. cytosol|nucleus ovary(3) 3 CCTGTCCGCCCTCATGCCGGC 0.597 NA 9 19 7.48243e-07 9.20222e-07 0.006214 1 0 TRAPPC10 7109 broad.mit.edu 37 21 45522796 45522796 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:45522796G>A uc002zea.2 + 22 3653 c.3484G>A c.(3484-3486)GTC>ATC p.V1162I TRAPPC10_uc010gpo.2_Missense_Mutation_p.V873I|TRAPPC10_uc011afa.1_Missense_Mutation_p.V540I NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1162 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CCTGCCCGACGTCAGGCTGTT 0.557 NA 23 56 0 0 0.003954 0 0 AIRE 326 broad.mit.edu 37 21 45713743 45713743 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:45713743C>G uc002zei.2 + 11 1477 c.1350C>G c.(1348-1350)GCC>GCG p.A450A AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Silent_p.A253A|AIRE_uc010gpr.2_Silent_p.A253A NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 450 PHD-type 2. CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) CTCACTGCGCCGCTGCCTTCC 0.642 NA Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 4 17 0 0 0.000602 0 0 ITGB2 3689 broad.mit.edu 37 21 46330268 46330268 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr21:46330268C>T uc002zgd.2 - 2 122 c.78G>A c.(76-78)ACG>ACA p.T26T ITGB2_uc002zge.2_Silent_p.T26T|ITGB2_uc002zgf.3_Silent_p.T26T|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Silent_p.T26T|ITGB2_uc002zgg.2_Silent_p.T26T NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 26 Extracellular (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) CCTTGAACTTCGTGCACTCCT 0.662 NA 4 33 0 0 0.000602 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072821 17072821 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:17072821G>C uc002zlp.1 - 1 880 c.620C>G c.(619-621)GCG>GGG p.A207G NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207V(1) ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCGGGCAGCGCGCACACCCC 0.617 NA 21 40 0 0 0.00333 0 0 DGCR14 8220 broad.mit.edu 37 22 19130301 19130301 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:19130301C>A uc002zou.2 - 2 279 c.242G>T c.(241-243)CGC>CTC p.R81L DGCR14_uc002zot.2_Missense_Mutation_p.R2L|DGCR14_uc002zov.2_RNA NM_022719 NP_073210 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region protein 14 81 nervous system development catalytic step 2 spliceosome ovary(1) 1 Colorectal(54;0.0993) GGCAATCTGGCGCATCCGTTC 0.582 NA 28 114 9.80776e-20 1.69316e-19 0.00632 1 0 ZDHHC8 29801 broad.mit.edu 37 22 20127706 20127706 + Missense_Mutation SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:20127706T>G uc002zrq.2 + 5 732 c.626T>G c.(625-627)GTG>GGG p.V209G ZDHHC8_uc002zrr.1_Missense_Mutation_p.V209G|ZDHHC8_uc010gsa.2_Intron NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 209 Helical; (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) TTCCATGTGGTGCTGGTCACT 0.642 NA 5 128 0 0 0.001168 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20128827 20128827 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:20128827A>C uc002zrq.2 + 8 1088 c.982A>C c.(982-984)AGT>CGT p.S328R ZDHHC8_uc002zrr.1_Missense_Mutation_p.S328R|ZDHHC8_uc010gsa.2_Missense_Mutation_p.S134R NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 328 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) CACGTTCAGCAGTGACCTGCA 0.647 NA 4 90 0 0 0.000602 0 0 PI4KA 5297 broad.mit.edu 37 22 21147516 21147516 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:21147516C>T uc002zsz.3 - 19 2350 c.2119G>A c.(2119-2121)GGG>AGG p.G707R NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 707 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCCAAGTTCCCTGCACTGCTA 0.333 GBM(136;1332 1831 3115 23601 50806) NA 6 473 0 0 0.001984 0 0 LZTR1 8216 broad.mit.edu 37 22 21349315 21349315 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:21349315G>T uc002zto.2 + 16 2045 c.1942G>T c.(1942-1944)GGC>TGC p.G648C LZTR1_uc002ztn.2_Missense_Mutation_p.G607C|LZTR1_uc011ahy.1_Missense_Mutation_p.G629C|LZTR1_uc002ztp.2_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 648 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGTGGACATTGGTAGGGAGCC 0.647 NA 343 36 4.40133e-195 8.55163e-195 0.00361 1 0 P2RX6 9127 broad.mit.edu 37 22 21380577 21380577 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:21380577G>T uc010gsu.1 + 11 1087 c.1087G>T c.(1087-1089)GAT>TAT p.D363Y P2RX6_uc002ztz.2_Missense_Mutation_p.D337Y|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 363 Cytoplasmic (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 GCTGTATGTGGATAGAGAAGC 0.453 NA 7 97 5.68852e-11 8.1424e-11 0.004482 1 0 VPREB1 7441 broad.mit.edu 37 22 22599662 22599662 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:22599662G>T uc002zvx.1 + 2 377 c.351G>T c.(349-351)ATG>ATT p.M117I LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 117 Ig-like V-type. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) ACTGTGCTATGGGGGCCCGCA 0.453 NA 9 16 1.76689e-08 2.29449e-08 0.006214 1 0 SUSD2 56241 broad.mit.edu 37 22 24582315 24582315 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:24582315G>T uc002zzn.1 + 10 1618 c.1574G>T c.(1573-1575)GGA>GTA p.G525V NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 525 VWFD.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 AACAGGACCGGAGGTCTGGAG 0.652 NA 9 25 5.4927e-09 7.29032e-09 0.004482 1 0 C22orf13 83606 broad.mit.edu 37 22 24939994 24939994 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:24939994C>A uc003aah.2 - 5 760 c.444G>T c.(442-444)GTG>GTT p.V148V C22orf13_uc003aal.2_Silent_p.V204V|C22orf13_uc003aai.3_Intron|C22orf13_uc003aaj.3_Silent_p.V148V|C22orf13_uc003aak.3_Silent_p.V204V NM_031444 NP_113632 Q96NT3 CV013_HUMAN chromosome 22 open reading frame 13 148 0 AGTTCACCAGCACGATGGCCA 0.652 NA 10 25 1.76689e-08 2.29449e-08 0.006214 1 0 LIMK2 3985 broad.mit.edu 37 22 31661989 31661989 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:31661989G>C uc003akh.2 + 8 1057 c.912G>C c.(910-912)CTG>CTC p.L304L LIMK2_uc003akg.2_Silent_p.L221L|LIMK2_uc003aki.2_Silent_p.L58L|LIMK2_uc003akj.2_Silent_p.L283L|LIMK2_uc003akk.2_Silent_p.L283L|LIMK2_uc011aln.1_Silent_p.L221L NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 304 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 AGCCCCTGCTGTTCAGCCGTG 0.572 NA 24 58 0 0 0.00333 0 0 ISX 91464 broad.mit.edu 37 22 35478514 35478514 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:35478514G>A uc003anj.2 + 2 1184 c.233G>A c.(232-234)GGA>GAA p.G78E ISX_uc011amg.1_Missense_Mutation_p.G66E NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 78 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 CATGCAGAAGGAAGGAAGAGC 0.547 NA 10 34 0 0 0.008291 0 0 APOL6 80830 broad.mit.edu 37 22 36055359 36055359 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:36055359G>T uc003aoe.2 + 3 1042 c.748G>T c.(748-750)GCC>TCC p.A250S APOL6_uc003aod.2_RNA NM_030641 NP_085144 Q9BWW8 APOL6_HUMAN apolipoprotein L6 250 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity 0 CTATGACTTGGCCACTCTCTC 0.542 NA 9 38 5.4927e-09 7.29032e-09 0.004482 1 0 PICK1 9463 broad.mit.edu 37 22 38468617 38468617 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:38468617G>A uc003auq.2 + 9 1080 c.690G>A c.(688-690)CCG>CCA p.P230P PICK1_uc003aur.2_Silent_p.P230P|PICK1_uc003aus.2_Silent_p.P230P|PICK1_uc003aut.2_Silent_p.P230P NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN protein interacting with C kinase 1 230 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding 0 Melanoma(58;0.045) CCATCAAGCCGGTAGGTCCTA 0.428 NA 21 60 0 0 0.004656 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823948 38823948 + Missense_Mutation SNP C C A rs147603955 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:38823948C>A uc003avs.1 - 2 287 c.190G>T c.(190-192)GCG>TCG p.A64S KCNJ4_uc003avt.1_Missense_Mutation_p.A64S NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 64 Helical; Name=M1; (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) AGGAAGGCCGCGGAGAAGATC 0.577 NA 27 41 1.77063e-15 2.88151e-15 0.005443 1 0 TTLL12 23170 broad.mit.edu 37 22 43575638 43575638 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:43575638G>C uc003bdq.2 - 5 859 c.827C>G c.(826-828)GCC>GGC p.A276G TTLL12_uc003bdr.1_Missense_Mutation_p.A276G NM_015140 NP_055955 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 276 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1) 1 Ovarian(80;0.221)|Glioma(61;0.222) GTAGTGCTCGGCGGGCGGCTC 0.622 NA 3 66 0 0 0.009096 0 0 TTLL12 23170 broad.mit.edu 37 22 43576790 43576790 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:43576790C>T uc003bdq.2 - 3 536 c.504G>A c.(502-504)GAG>GAA p.E168E TTLL12_uc003bdr.1_Silent_p.E168E NM_015140 NP_055955 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 168 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1) 1 Ovarian(80;0.221)|Glioma(61;0.222) TCCACATCTCCTCCAGCACCA 0.657 NA 38 69 0 0 0.006999 0 0 CELSR1 9620 broad.mit.edu 37 22 46795763 46795763 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:46795763C>A uc003bhw.1 - 10 5263 c.5263G>T c.(5263-5265)GGC>TGC p.G1755C CELSR1_uc011arc.1_Missense_Mutation_p.G76C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1755 Extracellular (Potential).|Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCGGAGGGGCCGTGGGACACC 0.547 NA 11 33 0.00185496 0.00201036 0.001855 1 0 CELSR1 9620 broad.mit.edu 37 22 46931390 46931390 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:46931390C>A uc003bhw.1 - 1 1678 c.1678G>T c.(1678-1680)GAC>TAC p.D560Y NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 560 Extracellular (Potential).|Cadherin 3. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGCTCGTTGTCGTTGACATCC 0.607 NA 9 35 0.00448238 0.00478183 0.004482 1 0 BRD1 23774 broad.mit.edu 37 22 50197939 50197939 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:50197939G>A uc003biv.2 - 2 1924 c.1437C>T c.(1435-1437)TAC>TAT p.Y479Y BRD1_uc011arf.1_Silent_p.Y74Y|BRD1_uc011arg.1_Silent_p.Y533Y|BRD1_uc011arh.1_Silent_p.Y479Y|BRD1_uc003biu.3_Silent_p.Y479Y NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 479 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGAGCAGCCAGTAGCTGTGGG 0.567 NA 11 32 0 0 0.000978 0 0 CNTN6 27255 broad.mit.edu 37 3 1444003 1444003 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:1444003T>A uc003boz.2 + 22 3086 c.2819T>A c.(2818-2820)ATT>AAT p.I940N CNTN6_uc011asj.1_Missense_Mutation_p.I868N|CNTN6_uc003bpa.2_Missense_Mutation_p.I940N NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 940 Fibronectin type-III 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTTATTCAGATTCTGTACCGG 0.348 NA 17 35 0 0 0.007413 0 0 NUP210 23225 broad.mit.edu 37 3 13360750 13360750 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:13360750C>A uc003bxv.1 - 38 5542 c.5459G>T c.(5458-5460)GGG>GTG p.G1820V NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1820 Helical; (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GACCGCTGTCCCAGCCAACAG 0.562 NA 9 6 0.000274275 0.00030271 0.004482 1 0 C3orf20 84077 broad.mit.edu 37 3 14799156 14799156 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:14799156G>T uc003byy.2 + 13 2623 c.2219G>T c.(2218-2220)CGG>CTG p.R740L C3orf20_uc003byz.2_Missense_Mutation_p.R618L|C3orf20_uc003bza.2_Missense_Mutation_p.R618L|C3orf20_uc003bzb.1_Missense_Mutation_p.R241L|C3orf20_uc011avj.1_Missense_Mutation_p.R67L NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 740 cytoplasm|integral to membrane ovary(3)|skin(1) 4 CACCAGCAGCGGGGCCGTGGC 0.637 NA 10 11 0.000978159 0.00106576 0.000978 1 0 PDCD6IP 10015 broad.mit.edu 37 3 33906811 33906811 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:33906811C>T uc003cfx.2 + 17 2476 c.2321C>T c.(2320-2322)CCA>CTA p.P774L PDCD6IP_uc003cfy.2_Missense_Mutation_p.P779L|PDCD6IP_uc011axw.1_Missense_Mutation_p.P555L NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 774 Pro-rich.|Interaction with EIAV p9.|Self-association. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 GCTACTGCTCCATCTCCAGTG 0.597 NA 12 29 0 0 0.00245 0 0 MYRIP 25924 broad.mit.edu 37 3 39942313 39942313 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:39942313G>C uc003cka.2 + 2 141 c.6G>C c.(4-6)GGG>GGC p.G2G MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.G2G|MYRIP_uc010hhw.2_5'UTR|MYRIP_uc010hhx.1_Silent_p.G2G NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 2 intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TAACCATGGGGAGGAAGCTGG 0.398 NA 59 45 0 0 0.00361 0 0 ZNF619 285267 broad.mit.edu 37 3 40529172 40529172 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:40529172C>A uc011azb.1 + 6 1569 c.1291C>A c.(1291-1293)CAG>AAG p.Q431K ZNF619_uc010hhz.2_Missense_Mutation_p.Q382K|ZNF619_uc003ckj.2_Missense_Mutation_p.Q375K|ZNF619_uc011azc.1_Missense_Mutation_p.Q391K|ZNF619_uc011azd.1_Missense_Mutation_p.Q347K|ZNF619_uc011aza.1_Missense_Mutation_p.Q333K NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 isoform 1 431 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TCTTCAGCACCAGAGGTTCCA 0.458 NA 38 29 1.30015e-28 2.39415e-28 0.004878 1 0 ZDHHC3 51304 broad.mit.edu 37 3 44975430 44975430 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:44975430C>G uc003cod.2 - 4 752 c.478G>C c.(478-480)GTC>CTC p.V160L ZDHHC3_uc003cog.2_Missense_Mutation_p.V160L|ZDHHC3_uc011bad.1_Missense_Mutation_p.V160L NM_016598 NP_057682 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 isoform 2 160 Cytoplasmic (Potential).|DHHC-type. Golgi membrane|integral to membrane zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) CAGTTGTTGACCCAGGGACAG 0.532 NA 8 323 0 0 0.00308 0 0 ALS2CL 259173 broad.mit.edu 37 3 46723032 46723032 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:46723032C>G uc003cqa.1 - 12 1422 c.1232G>C c.(1231-1233)TGT>TCT p.C411S ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Missense_Mutation_p.C411S|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 411 MORN 3. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TCGCCAGTGACACTTGTAACA 0.612 NA 33 18 0 0 0.003755 0 0 SETD2 29072 broad.mit.edu 37 3 47158147 47158147 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:47158147C>A uc003cqs.2 - 4 4605 c.4552G>T c.(4552-4554)GAA>TAA p.E1518* SETD2_uc003cqv.2_Nonsense_Mutation_p.E1507* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1518 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AGACAATCTTCCCCACATGCT 0.338 NA N|F|S|Mis clear cell renal carcinoma 48 65 1.56989e-16 2.60883e-16 0.00361 1 0 DHX30 22907 broad.mit.edu 37 3 47870539 47870539 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:47870539C>T uc003cru.2 + 6 707 c.281C>T c.(280-282)CCC>CTC p.P94L DHX30_uc003crs.2_Missense_Mutation_p.P55L|DHX30_uc003crt.2_Missense_Mutation_p.P55L|DHX30_uc010hjr.1_Missense_Mutation_p.P122L NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 94 DRBM. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ATAAAATGGCCCAAGAGCGTG 0.498 NA 5 7 0 0 0.000602 0 0 DNAH1 25981 broad.mit.edu 37 3 52432999 52432999 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:52432999T>A uc011bef.1 + 76 12484 c.12223T>A c.(12223-12225)TGG>AGG p.W4075R DNAH1_uc003ddv.2_Missense_Mutation_p.W933R NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4140 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCTGAGCTCTGGAGTGCCAA 0.562 NA 19 33 0 0 0.006122 0 0 CADPS 8618 broad.mit.edu 37 3 62467524 62467524 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:62467524G>T uc003dll.2 - 22 3407 c.3047C>A c.(3046-3048)CCC>CAC p.P1016H CADPS_uc003dlj.1_5'UTR|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1016 MHD1.|Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GTTCACATTGGGTAGGTTACT 0.433 NA 55 54 2.69953e-25 4.9004e-25 0.00361 1 0 CADPS 8618 broad.mit.edu 37 3 62535709 62535709 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:62535709C>A uc003dll.2 - 11 2195 c.1835G>T c.(1834-1836)CGC>CTC p.R612L CADPS_uc003dlk.1_Missense_Mutation_p.R116L|CADPS_uc003dlm.2_Missense_Mutation_p.R612L|CADPS_uc003dln.2_Missense_Mutation_p.R612L NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 612 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CCACAGGATGCGGTCTTGTTC 0.557 NA 74 63 3.52879e-18 6.03081e-18 0.00361 1 0 CNTN3 5067 broad.mit.edu 37 3 74334493 74334493 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:74334493A>G uc003dpm.1 - 19 2747 c.2667T>C c.(2665-2667)CCT>CCC p.P889P NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 889 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGGCGCTAAAAGGCCCAGCGC 0.473 NA 38 121 0 0 0.007835 0 0 CNTN3 5067 broad.mit.edu 37 3 74411127 74411127 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:74411127C>G uc003dpm.1 - 10 1358 c.1278G>C c.(1276-1278)CTG>CTC p.L426L NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 426 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCAAGCTGACCAGGCTGCCCA 0.502 NA 36 38 0 0 0.004878 0 0 CNTN3 5067 broad.mit.edu 37 3 74413689 74413689 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:74413689G>T uc003dpm.1 - 9 1222 c.1142C>A c.(1141-1143)TCT>TAT p.S381Y NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 381 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GAACATGCCAGAATCAGTCAC 0.368 NA 17 54 8.28177e-16 1.35641e-15 0.007413 1 0 OR5K4 403278 broad.mit.edu 37 3 98073296 98073296 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:98073296A>G uc011bgv.1 + 1 599 c.599A>G c.(598-600)TAT>TGT p.Y200C NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 200 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CTAATGATATATATCTTTTCA 0.333 NA 11 49 0 0 0.000978 0 0 OR5K1 26339 broad.mit.edu 37 3 98188804 98188804 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:98188804C>A uc003dsm.2 + 1 384 c.384C>A c.(382-384)AAC>AAA p.N128K NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 CCATATGCAACCCACTGCAGT 0.468 NA 55 51 1.39843e-22 2.49423e-22 0.00361 1 0 NR1I2 8856 broad.mit.edu 37 3 119533825 119533825 + Splice_Site SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:119533825G>T uc003edj.2 + 6 2634 c.795_splice c.e6-1 p.R265_splice NR1I2_uc003edi.2_Splice_Site_p.R228_splice|NR1I2_uc003edk.2_Splice_Site_p.R304_splice|NR1I2_uc003edl.2_Splice_Site_p.R153_splice NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CTTGCTGCCAGGGACTTGCCC 0.602 NA 14 42 3.27435e-08 4.22524e-08 0.00245 1 0 GPR156 165829 broad.mit.edu 37 3 119900182 119900182 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:119900182G>T uc011bjf.1 - 7 723 c.723C>A c.(721-723)TAC>TAA p.Y241* GPR156_uc011bjg.1_Nonsense_Mutation_p.Y237* NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 241 Helical; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) GGCCAGCCAGGTAGGCACCAT 0.557 NA 25 97 1.38267e-23 2.50104e-23 0.005443 1 0 IQCB1 9657 broad.mit.edu 37 3 121489381 121489381 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:121489381C>G uc010hre.1 - 15 1823 c.1608G>C c.(1606-1608)GAG>GAC p.E536D IQCB1_uc003eek.2_Missense_Mutation_p.E403D|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 536 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) TTAGGAAGAGCTCAGGTTCTT 0.522 NA 6 374 0 0 0.001168 0 0 SEMA5B 54437 broad.mit.edu 37 3 122629686 122629686 + Splice_Site SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:122629686C>G uc003efz.1 - 22 3601 c.3297_splice c.e22+1 p.K1099_splice SEMA5B_uc011bju.1_Splice_Site_p.K1005_splice|SEMA5B_uc003ega.1_Splice_Site|SEMA5B_uc003efy.1_Splice_Site_p.K77_splice NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 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) aaGGCTCCCACCTTGAATTCC 0.308 NA 32 24 0 0 0.003271 0 0 ADCY5 111 broad.mit.edu 37 3 123166346 123166346 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:123166346G>T uc003egh.1 - 1 1047 c.1047C>A c.(1045-1047)GCC>GCA p.A349A NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 349 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TGAGCACTGCGGCCCGCATGC 0.682 NA 10 28 2.68362e-12 4.01561e-12 0.001368 1 0 C3orf22 152065 broad.mit.edu 37 3 126270897 126270897 + Missense_Mutation SNP G G T rs145199781 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:126270897G>T uc003ejb.2 - 3 487 c.158C>A c.(157-159)ACG>AAG p.T53K NM_152533 NP_689746 Q8N5N4 CC022_HUMAN hypothetical protein LOC152065 53 0 GBM - Glioblastoma multiforme(114;0.147) CAGCTGCACCGTGTTCGAGTC 0.622 NA 15 83 4.93089e-13 7.56662e-13 0.00245 1 0 IFT122 55764 broad.mit.edu 37 3 129239079 129239079 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:129239079C>T uc003emm.2 + 30 3903 c.3697C>T c.(3697-3699)CGC>TGC p.R1233C IFT122_uc003eml.2_Missense_Mutation_p.R1284C|IFT122_uc003emn.2_Missense_Mutation_p.R1174C|IFT122_uc003emo.2_Missense_Mutation_p.R1123C|IFT122_uc003emp.2_Missense_Mutation_p.R1083C|IFT122_uc010htc.2_Missense_Mutation_p.R1226C|IFT122_uc011bky.1_Missense_Mutation_p.R1024C|IFT122_uc003emq.2_Missense_Mutation_p.R1073C|IFT122_uc003emr.2_Missense_Mutation_p.R986C|IFT122_uc011bla.1_Missense_Mutation_p.R1007C|IFT122_uc010hte.2_Missense_Mutation_p.R559C|IFT122_uc003ems.2_Missense_Mutation_p.R615C NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 1233 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 CCCCTACTGCCGCAGGTGCAA 0.582 NA 8 15 0 0 0.006214 0 0 COL29A1 256076 broad.mit.edu 37 3 130188091 130188091 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:130188091G>T uc010htj.1 + 38 7737 c.7243G>T c.(7243-7245)GCT>TCT p.A2415S COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.A454S NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2415 VWFA 10.|Nonhelical region. axon guidance|cell adhesion collagen 0 TGTAATATCTGCTGGCGAAAC 0.413 NA 27 77 1.17739e-12 1.79062e-12 0.005443 1 0 COL6A6 131873 broad.mit.edu 37 3 130290119 130290119 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:130290119C>G uc010htl.2 + 6 2890 c.2859C>G c.(2857-2859)CCC>CCG p.P953P NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 953 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GTGCCAATCCCGTGGAGCTGT 0.507 NA 29 56 0 0 0.009535 0 0 PIK3R4 30849 broad.mit.edu 37 3 130427168 130427168 + Missense_Mutation SNP C C A rs151220675 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:130427168C>A uc003enj.2 - 10 3081 c.2500G>T c.(2500-2502)GTT>TTT p.V834F NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 834 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.V834F(1) ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TTGGTTTTAACAAGATCAACT 0.388 NA 21 241 3.10358e-05 3.62498e-05 0.002299 1 0 PIK3R4 30849 broad.mit.edu 37 3 130435261 130435261 + Silent SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:130435261A>C uc003enj.2 - 9 2891 c.2310T>G c.(2308-2310)CTT>CTG p.L770L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 770 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 ACTTCTTCAGAAGCTGTGCTA 0.398 NA 70 60 0 0 0.00361 0 0 ACPP 55 broad.mit.edu 37 3 132075604 132075604 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:132075604G>T uc010htp.2 + 10 1133 c.1043G>T c.(1042-1044)AGC>ATC p.S348I ACPP_uc003eon.3_Missense_Mutation_p.S315I|ACPP_uc003eop.3_Missense_Mutation_p.S348I NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 348 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 CCTGGCTGCAGCCCCAGCTGT 0.557 NA 7 143 3.86212e-05 4.42498e-05 0.008291 1 0 NPHP3 27031 broad.mit.edu 37 3 132407565 132407565 + Silent SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:132407565A>T uc003epe.1 - 21 3131 c.3054T>A c.(3052-3054)GCT>GCA p.A1018A NPHP3_uc003epd.1_Silent_p.A260A NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 1018 TPR 5. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CCGCACCATAAGCATTTTCTG 0.413 NA 25 259 0 0 0.005443 0 0 IL20RB 53833 broad.mit.edu 37 3 136701172 136701172 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:136701172A>G uc003eri.1 + 3 635 c.386A>G c.(385-387)CAT>CGT p.H129R IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_5'UTR NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta precursor 129 Fibronectin type-III 1.|Extracellular (Potential). integral to membrane receptor activity ovary(1) 1 ATCCTGAAGCATCCCTTTAAT 0.507 NA 14 41 0 0 0.00245 0 0 CLSTN2 64084 broad.mit.edu 37 3 140265370 140265370 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:140265370C>A uc003etn.2 + 10 1711 c.1521C>A c.(1519-1521)ACC>ACA p.T507T CLSTN2_uc003etm.2_Silent_p.T507T NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 507 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 GAGAAGTCACCAAACCACAGT 0.522 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 17 42 4.96729e-08 6.3776e-08 0.008871 1 0 ZIC1 7545 broad.mit.edu 37 3 147128064 147128064 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:147128064G>C uc003ewe.2 + 1 884 c.165G>C c.(163-165)GAG>GAC p.E55D NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 55 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTTCGCACGAGCTGGCTTCGG 0.711 NA 4 38 0 0 0.001168 0 0 ZIC1 7545 broad.mit.edu 37 3 147128846 147128846 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:147128846C>G uc003ewe.2 + 1 1666 c.947C>G c.(946-948)TCC>TGC p.S316C NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 316 C2H2-type 3. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTCGCGCGCTCCGAGAATTTA 0.552 NA 19 22 0 0 0.006122 0 0 CPA3 1359 broad.mit.edu 37 3 148614351 148614351 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:148614351A>T uc003ewm.2 + 11 1163 c.1111A>T c.(1111-1113)ATC>TTC p.I371F NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 371 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TGACCTGGGCATCAAACACAC 0.403 NA 24 97 0 0 0.007291 0 0 IGSF10 285313 broad.mit.edu 37 3 151156246 151156246 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:151156246G>A uc011bod.1 - 6 6103 c.6103C>T c.(6103-6105)CTG>TTG p.L2035L IGSF10_uc011bob.1_Silent_p.L62L|IGSF10_uc011boc.1_Silent_p.L14L NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2035 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGGTTTCAGTCTTAGGCTA 0.433 NA 30 133 0 0 0.008361 0 0 IGSF10 285313 broad.mit.edu 37 3 151162958 151162958 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:151162958G>T uc011bod.1 - 4 4811 c.4811C>A c.(4810-4812)ACC>AAC p.T1604N NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1604 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AACAAGAGTGGTGGCCTCGGA 0.428 NA 31 148 7.11191e-15 1.14283e-14 0.002836 1 0 IGSF10 285313 broad.mit.edu 37 3 151162966 151162966 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:151162966G>T uc011bod.1 - 4 4803 c.4803C>A c.(4801-4803)TCC>TCA p.S1601S NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1601 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGTGGCCTCGGACAGGCCTG 0.443 NA 31 139 2.61193e-14 4.15147e-14 0.009535 1 0 MME 4311 broad.mit.edu 37 3 154802043 154802044 + Missense_Mutation DNP CA CA AG TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:154802043_154802044CA>AG uc010hvr.1 + 2 298_299 c.87_88CA>AG c.(85-90)ATCAGC>ATAGGC p.S30G MME_uc003fab.1_Missense_Mutation_p.S30G|MME_uc003fac.1_Missense_Mutation_p.S30G|MME_uc003fad.1_Missense_Mutation_p.S30G|MME_uc003fae.1_Missense_Mutation_p.S30G NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 30 Helical; Signal-anchor for type II membrane protein; (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) CACTGGAGATCAGCCTCTCGGT 0.48 NA 43 115 0 0 0.004672 0 0 MFSD1 64747 broad.mit.edu 37 3 158522150 158522150 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:158522150A>T uc003fcl.1 + 2 236 c.206A>T c.(205-207)CAA>CTA p.Q69L MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Nonsense_Mutation_p.K10*|MFSD1_uc011bow.1_Nonsense_Mutation_p.K68*|MFSD1_uc011box.1_5'UTR NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 69 transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTCAGACTCAAGTTAAACGA 0.368 Pancreas(62;1186 1654 36636 37908) NA 16 34 0 0 0.008871 0 0 SI 6476 broad.mit.edu 37 3 164737500 164737500 + Missense_Mutation SNP G G A rs138397431 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:164737500G>A uc003fei.2 - 28 3375 c.3313C>T c.(3313-3315)CGC>TGC p.R1105C NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1105 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) GATGGCAGGCGAGTCGATATT 0.383 NA HNSCC(35;0.089) 5 60 0 0 0.000602 0 0 FNDC3B 64778 broad.mit.edu 37 3 172065095 172065095 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:172065095A>C uc003fhy.2 + 21 2630 c.2458A>C c.(2458-2460)ACC>CCC p.T820P FNDC3B_uc003fhz.3_Missense_Mutation_p.T820P NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 820 Fibronectin type-III 6. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TGGGACAGACACCCGTTTTGA 0.443 NA 32 78 0 0 0.002445 0 0 FNDC3B 64778 broad.mit.edu 37 3 172065099 172065099 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:172065099G>T uc003fhy.2 + 21 2634 c.2462G>T c.(2461-2463)CGT>CTT p.R821L FNDC3B_uc003fhz.3_Missense_Mutation_p.R821L NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 821 Fibronectin type-III 6. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACAGACACCCGTTTTGAAATA 0.448 NA 32 77 2.80507e-11 4.07793e-11 0.002445 1 0 EIF4G1 1981 broad.mit.edu 37 3 184049277 184049277 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:184049277G>C uc003fnp.2 + 30 4476 c.4278G>C c.(4276-4278)CTG>CTC p.L1426L EIF4G1_uc003fnt.2_Silent_p.L1137L|EIF4G1_uc003fnq.2_Silent_p.L1339L|EIF4G1_uc003fnr.2_Silent_p.L1262L|EIF4G1_uc010hxx.2_Silent_p.L1433L|EIF4G1_uc003fns.2_Silent_p.L1386L|EIF4G1_uc010hxy.2_Silent_p.L1433L|EIF4G1_uc003fnv.3_Silent_p.L1427L|EIF4G1_uc003fnu.3_Silent_p.L1426L|EIF4G1_uc003fnw.2_Silent_p.L1433L|EIF4G1_uc003fnx.2_Silent_p.L1231L|EIF4G1_uc003fny.3_Silent_p.L1230L|EIF4G1_uc003foa.2_Silent_p.L98L NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1426 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGTATACCCTGGGAGAGGAGT 0.577 NA 6 236 0 0 0.001168 0 0 ZNF595 152687 broad.mit.edu 37 4 59439 59439 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:59439G>T uc003fzv.1 + 2 276 c.120G>T c.(118-120)CTG>CTT p.L40L ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Silent_p.L40L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 40 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ACAGGAACCTGGTCTCCCTGG 0.443 NA 30 404 3.1745e-13 4.90822e-13 0.008361 1 0 SH3BP2 6452 broad.mit.edu 37 4 2826407 2826407 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:2826407A>C uc003gfi.3 + 4 427 c.307A>C c.(307-309)AAG>CAG p.K103Q SH3BP2_uc010icn.2_Missense_Mutation_p.K103Q|SH3BP2_uc011bvp.1_Missense_Mutation_p.K131Q|SH3BP2_uc003gfj.3_Missense_Mutation_p.K160Q|SH3BP2_uc003gfk.3_Missense_Mutation_p.K103Q|SH3BP2_uc003gfl.3_Missense_Mutation_p.K36Q|SH3BP2_uc003gfm.3_5'Flank NM_001122681 NP_001116153 P78314 3BP2_HUMAN SH3-domain binding protein 2 isoform a 103 PH. signal transduction SH3 domain binding|SH3/SH2 adaptor activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CCATATCAGCAAGAAGCACCG 0.637 NA Cherubism 34 55 0 0 0.00623 0 0 C4orf23 152992 broad.mit.edu 37 4 8467229 8467229 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:8467229G>T uc003glg.1 + 8 936 c.748G>T c.(748-750)GGC>TGC p.G250C C4orf23_uc003glf.1_Missense_Mutation_p.G238C|C4orf23_uc003glh.1_Missense_Mutation_p.G87C NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN hypothetical protein LOC152992 isoform 2 479 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding 0 TAAAGAAGTGGGCTTCACCTG 0.488 NA 38 57 3.66854e-30 6.80445e-30 0.007835 1 0 GBA3 57733 broad.mit.edu 37 4 22749027 22749027 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:22749027G>T uc003gqp.3 + 3 486 c.395G>T c.(394-396)GGT>GTT p.G132V GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G133V NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 132 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 GACCAAGGAGGTTGGTTGTCA 0.403 NA 64 107 1.22119e-34 2.30269e-34 0.00361 1 0 SLC34A2 10568 broad.mit.edu 37 4 25675965 25675965 + Missense_Mutation SNP G G T rs116219115 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:25675965G>T uc003grr.2 + 11 1345 c.1264G>T c.(1264-1266)GTC>TTC p.V422F SLC34A2_uc003grs.2_Missense_Mutation_p.V421F|SLC34A2_uc010iev.2_Missense_Mutation_p.V421F NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 422 Helical; Name=M5; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GGCCATCCTCGTCGGGGCAGG 0.577 NA 29 58 8.88839e-20 1.53705e-19 0.002096 1 0 CCKAR 886 broad.mit.edu 37 4 26483736 26483736 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:26483736G>T uc003gse.1 - 5 964 c.811C>A c.(811-813)CTG>ATG p.L271M NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 271 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) GTCTTTTGCAGGTAACACCCA 0.602 NA 30 106 7.11191e-15 1.14283e-14 0.002836 1 0 GRXCR1 389207 broad.mit.edu 37 4 42895638 42895638 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:42895638C>T uc003gwt.2 + 1 355 c.355C>T c.(355-357)CTA>TTA p.L119L NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 119 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 TGGCCAGGCTCTATTTAACAA 0.433 NA 73 90 0 0 0.00361 0 0 GABRA2 2555 broad.mit.edu 37 4 46252334 46252334 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:46252334G>T uc003gxc.3 - 9 2020 c.1347C>A c.(1345-1347)GTC>GTA p.V449V GABRA2_uc010igc.2_Silent_p.V449V|GABRA2_uc011bzc.1_Silent_p.V454V NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 449 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCAAGGACTGACCCCTAATA 0.338 NA 8 60 0.00448238 0.00478183 0.004482 1 0 ATP10D 57205 broad.mit.edu 37 4 47556860 47556860 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:47556860A>G uc003gxk.1 + 11 1917 c.1753A>G c.(1753-1755)ATC>GTC p.I585V ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 585 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 TTTGTACATTATCGACTTTTT 0.413 NA 6 131 0 0 0.001984 0 0 ATP10D 57205 broad.mit.edu 37 4 47559954 47559954 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:47559954G>C uc003gxk.1 + 12 2262 c.2098G>C c.(2098-2100)GGT>CGT p.G700R ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 700 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GAAACAACACGGTGATGCAGG 0.582 NA 29 33 0 0 0.00632 0 0 LNX1 84708 broad.mit.edu 37 4 54439849 54439849 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:54439849G>C uc003hag.3 - 2 577 c.321C>G c.(319-321)TTC>TTG p.F107L PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 107 cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGTGCTCCCTGAATGGGCAGG 0.577 NA 4 7 0 0 0.001168 0 0 KDR 3791 broad.mit.edu 37 4 55981512 55981512 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:55981512T>C uc003has.2 - 4 727 c.425A>G c.(424-426)AAA>AGA p.K142R KDR_uc003hat.1_Missense_Mutation_p.K142R|KDR_uc011bzx.1_Missense_Mutation_p.K142R NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 142 Ig-like C2-type 2.|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) AGTTTTGTTTTTGTTCTCAGT 0.358 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 18 27 0 0 0.008871 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68964603 68964603 + Splice_Site SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:68964603A>G uc003hdt.1 - 2 212 c.163_splice c.e2+1 p.D55_splice NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 CTGGATACTTACCCTCAACAA 0.353 NA 34 50 0 0 0.003755 0 0 UGT2B10 7365 broad.mit.edu 37 4 69885521 69885521 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:69885521T>A uc011cao.1 - 4 604 c.468A>T c.(466-468)GTA>GTT p.V156V UGT2B10_uc011can.1_Intron P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 193 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TAACAACAGGTACGTAGGAAG 0.383 Melanoma(133;755 1763 25578 26334 46021) NA 24 42 0 0 0.005443 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156417 70156418 + Missense_Mutation DNP CC CC AA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:70156417_70156418CC>AA uc003hej.2 + 5 1200_1201 c.1198_1199CC>AA c.(1198-1200)CCT>AAT p.P400N UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 400 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) TTGGGATCAACCTGATAACATT 0.45 NA 45 140 0 0 0.004672 0 0 C4orf35 85438 broad.mit.edu 37 4 71200971 71200971 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:71200971A>T uc003hff.2 + 1 301 c.215A>T c.(214-216)AAG>ATG p.K72M NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 72 flagellum calcium ion binding 0 all_hematologic(202;0.196) ACAGCTAAAAAGGAAAAACTC 0.373 NA 53 69 0 0 0.00361 0 0 ANKRD56 345079 broad.mit.edu 37 4 77817998 77817998 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:77817998G>T uc003hki.2 - 1 1005 c.1005C>A c.(1003-1005)TTC>TTA p.F335L NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 335 0 GCAGCTGGAGGAAGTTGTCTG 0.642 NA 14 41 4.93089e-13 7.56662e-13 0.00245 1 0 FRAS1 80144 broad.mit.edu 37 4 79399131 79399131 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:79399131G>C uc003hlb.2 + 55 8454 c.8014G>C c.(8014-8016)GAT>CAT p.D2672H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2667 Extracellular (Potential).|Calx-beta 2. cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CGATACCGAGGATGAACCCAC 0.453 NA 5 6 0 0 0.000602 0 0 ANXA3 306 broad.mit.edu 37 4 79503387 79503387 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:79503387G>T uc003hld.2 + 5 565 c.255G>T c.(253-255)GTG>GTT p.V85V ANXA3_uc003hle.2_Silent_p.V46V|ANXA3_uc010ijk.2_Silent_p.V46V NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 85 Annexin 1. defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 ATCTCATGGTGGCCCTAGTGA 0.448 GBM(2;126 157 27790 28920 42492) NA 9 54 1.12685e-05 1.32678e-05 0.004482 1 0 GK2 2712 broad.mit.edu 37 4 80328582 80328582 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:80328582C>T uc003hlu.2 - 1 791 c.773G>A c.(772-774)GGG>GAG p.G258E NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 258 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 ACATTGGTCCCCCAAACACCC 0.458 NA 17 95 0 0 0.00499 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86844845 86844845 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:86844845C>T uc003hpk.2 + 4 762 c.313C>T c.(313-315)CTC>TTC p.L105F ARHGAP24_uc003hpj.2_Missense_Mutation_p.L105F|ARHGAP24_uc003hpl.2_Missense_Mutation_p.L10F|ARHGAP24_uc010ikf.2_Missense_Mutation_p.L20F NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 105 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAGCTACCTCCTCATGGCAAG 0.473 NA 7 49 0 0 0.00308 0 0 MAPK10 5602 broad.mit.edu 37 4 87028474 87028474 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:87028474C>A uc003hpq.2 - 4 335 c.268G>T c.(268-270)GTG>TTG p.V90L MAPK10_uc010ikg.2_Missense_Mutation_p.V52L|MAPK10_uc003hpr.2_Missense_Mutation_p.V52L|MAPK10_uc003hps.2_Missense_Mutation_p.V90L|MAPK10_uc003hpt.2_Missense_Mutation_p.V90L|MAPK10_uc003hpu.2_Missense_Mutation_p.V90L|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 90 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TTAATGGCCACATTTCTGTCA 0.448 NA 8 57 0.000274275 0.00030271 0.004482 1 0 DSPP 1834 broad.mit.edu 37 4 88533716 88533716 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:88533716G>T uc003hqu.2 + 4 498 c.378G>T c.(376-378)GGG>GGT p.G126G NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 126 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GAATACATGGGAAAGAAGAAA 0.413 NA 8 39 1.12685e-05 1.32678e-05 0.004482 1 0 MEPE 56955 broad.mit.edu 37 4 88766498 88766498 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:88766498G>T uc003hqy.2 + 4 517 c.478G>T c.(478-480)GCG>TCG p.A160S MEPE_uc010ikn.2_Missense_Mutation_p.A47S NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 160 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GCCAGTGACTGCGATTAAACT 0.418 NA 8 61 0.000442599 0.000486383 0.006214 1 0 COL25A1 84570 broad.mit.edu 37 4 109895542 109895542 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:109895542T>A uc003hze.1 - 7 1004 c.473A>T c.(472-474)CAA>CTA p.Q158L COL25A1_uc003hzg.2_Missense_Mutation_p.Q158L|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 158 Extracellular (Potential).|Collagen-like 1. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTGATCACCTTGTTCTCCCTG 0.373 NA 27 59 0 0 0.002096 0 0 SEC24B 10427 broad.mit.edu 37 4 110452656 110452656 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:110452656G>T uc003hzk.2 + 20 3423 c.3368G>T c.(3367-3369)AGG>ATG p.R1123M SEC24B_uc003hzl.2_Missense_Mutation_p.R1088M|SEC24B_uc011cfp.1_Missense_Mutation_p.R1153M|SEC24B_uc011cfq.1_Missense_Mutation_p.R1122M|SEC24B_uc011cfr.1_Missense_Mutation_p.R1087M NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 1123 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AACTTATACAGGATAGACAGA 0.348 NA 15 73 1.15088e-07 1.44674e-07 0.004007 1 0 ALPK1 80216 broad.mit.edu 37 4 113332985 113332985 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:113332985G>C uc003iap.3 + 5 558 c.279G>C c.(277-279)GCG>GCC p.A93A ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Silent_p.A93A|ALPK1_uc011cfx.1_Silent_p.A15A|ALPK1_uc003iao.3_RNA|ALPK1_uc003iaq.2_Silent_p.A37A|ALPK1_uc010imo.2_5'UTR|ALPK1_uc003iar.2_Silent_p.A63A NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 93 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TCCTCCAGGCGTCCCTGAGGG 0.592 NA 3 12 0 0 0.004672 0 0 PRDM5 11107 broad.mit.edu 37 4 121774658 121774658 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:121774658T>A uc003idn.2 - 3 465 c.215A>T c.(214-216)GAT>GTT p.D72V PRDM5_uc003ido.2_Missense_Mutation_p.D72V|PRDM5_uc010ine.2_Missense_Mutation_p.D72V|PRDM5_uc010inf.2_Missense_Mutation_p.D72V|PRDM5_uc003idp.1_Missense_Mutation_p.D72V NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 72 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 GTTGGTAGCATCCAAAATGTA 0.448 NA 16 279 0 0 0.004007 0 0 FAT4 79633 broad.mit.edu 37 4 126336650 126336650 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:126336650G>C uc003ifj.3 + 5 6532 c.6532G>C c.(6532-6534)GCA>CCA p.A2178P FAT4_uc011cgp.1_Missense_Mutation_p.A476P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2178 Cadherin 21.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACAAGTGTTCGCAGCAGATGG 0.398 NA 14 82 0 0 0.003163 0 0 FAT4 79633 broad.mit.edu 37 4 126370085 126370085 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:126370085G>T uc003ifj.3 + 9 7914 c.7914G>T c.(7912-7914)TGG>TGT p.W2638C FAT4_uc011cgp.1_Missense_Mutation_p.W936C|FAT4_uc003ifi.1_Missense_Mutation_p.W116C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2638 Extracellular (Potential).|Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 atgttgtatggatagaggcca 0.129 NA 16 22 6.72482e-11 9.59884e-11 0.003163 1 0 FAT4 79633 broad.mit.edu 37 4 126373104 126373104 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:126373104G>A uc003ifj.3 + 9 10933 c.10933G>A c.(10933-10935)GAC>AAC p.D3645N FAT4_uc011cgp.1_Missense_Mutation_p.D1943N|FAT4_uc003ifi.1_Missense_Mutation_p.D1123N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3645 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGATGTGTTAGACAGCTTCCA 0.478 NA 32 47 0 0 0.003271 0 0 USP38 84640 broad.mit.edu 37 4 144135716 144135716 + Missense_Mutation SNP A A T rs140701873 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:144135716A>T uc003ijb.2 + 9 3121 c.2587A>T c.(2587-2589)AGG>TGG p.R863W USP38_uc003ija.3_Missense_Mutation_p.R863W|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 863 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) TTCTTATGCCAGGAATATCAC 0.438 NA 14 31 0 0 0.00245 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160264211 160264211 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:160264211A>T uc003iqg.3 + 15 2826 c.2516A>T c.(2515-2517)GAT>GTT p.D839V NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 839 Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CTATTTCAAGATCTCCAAGAC 0.418 NA 5 37 0 0 0.000602 0 0 NPY5R 4889 broad.mit.edu 37 4 164271759 164271759 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:164271759G>T uc003iqn.2 + 4 516 c.334G>T c.(334-336)GTC>TTC p.V112F NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 112 Extracellular (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GTTTGGCAAAGTCATGTGCCA 0.383 Melanoma(139;1287 1774 9781 19750 25599) NA 25 198 4.4004e-07 5.45116e-07 0.00333 1 0 GALNT7 51809 broad.mit.edu 37 4 174169425 174169425 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:174169425G>C uc003isz.3 + 2 504 c.421G>C c.(421-423)GAG>CAG p.E141Q NM_017423 NP_059119 Q86SF2 GALT7_HUMAN polypeptide N-acetylgalactosaminyltransferase 7 141 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1) 1 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) CAAAGAACCTGAGCCTCCTGG 0.493 NA 25 46 0 0 0.003954 0 0 ADAM29 11086 broad.mit.edu 37 4 175898483 175898483 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:175898483G>T uc003iuc.2 + 5 2477 c.1807G>T c.(1807-1809)GAG>TAG p.E603* ADAM29_uc003iud.2_Nonsense_Mutation_p.E603*|ADAM29_uc010irr.2_Nonsense_Mutation_p.E603*|ADAM29_uc011cki.1_Nonsense_Mutation_p.E603* NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 603 Cys-rich.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGATGGAACAGAGTGTGGGAT 0.433 Ovarian(140;1727 1835 21805 25838 41440) NA 26 134 4.43304e-23 7.96232e-23 0.00632 1 0 ODZ3 55714 broad.mit.edu 37 4 183601430 183601430 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:183601430C>A uc003ivd.1 + 8 1604 c.1567C>A c.(1567-1569)CAT>AAT p.H523N ODZ3_uc003ive.1_5'UTR NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 523 Extracellular (Potential).|EGF-like 1. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCGAAATTGCCATGGAAATGG 0.423 NA 16 20 3.51602e-12 5.25346e-12 0.008871 1 0 CASP3 836 broad.mit.edu 37 4 185552920 185552920 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:185552920T>A uc003iwh.2 - 6 745 c.482A>T c.(481-483)CAG>CTG p.Q161L CASP3_uc003iwg.2_Missense_Mutation_p.Q161L|CASP3_uc003iwi.2_Missense_Mutation_p.Q161L NM_004346 NP_004337 P42574 CASP3_HUMAN caspase 3 preproprotein 161 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding kidney(1) 1 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) AGACATTACCTGAATAATGAA 0.338 NA 5 45 0 0 0.000602 0 0 SORBS2 8470 broad.mit.edu 37 4 186541230 186541230 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:186541230G>A uc003iyl.2 - 14 3437 c.2579C>T c.(2578-2580)ACT>ATT p.T860I SORBS2_uc003iyh.2_Missense_Mutation_p.T584I|SORBS2_uc011ckw.1_Missense_Mutation_p.T421I|SORBS2_uc003iyi.2_Missense_Mutation_p.T491I|SORBS2_uc011ckx.1_Missense_Mutation_p.T426I|SORBS2_uc003iyk.2_Missense_Mutation_p.T404I|SORBS2_uc003iym.2_Missense_Mutation_p.T960I|SORBS2_uc003iyn.1_Missense_Mutation_p.T451I|SORBS2_uc011cku.1_Missense_Mutation_p.T252I|SORBS2_uc011ckv.1_Missense_Mutation_p.T764I|SORBS2_uc003iyd.2_Missense_Mutation_p.T559I|SORBS2_uc003iye.2_Missense_Mutation_p.T433I|SORBS2_uc003iya.2_Missense_Mutation_p.T380I|SORBS2_uc003iyb.2_Missense_Mutation_p.T333I|SORBS2_uc003iyc.2_Missense_Mutation_p.T313I|SORBS2_uc003iyg.2_Missense_Mutation_p.T974I|SORBS2_uc003iyf.2_Missense_Mutation_p.T396I|SORBS2_uc003iyo.1_Missense_Mutation_p.T309I NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 860 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TTTTTCTGGAGTTCCTCTTCT 0.438 Esophageal Squamous(153;41 2433 9491 36028) NA 7 324 0 0 0.00308 0 0 TRIML1 339976 broad.mit.edu 37 4 189068508 189068508 + Silent SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr4:189068508A>C uc003izm.1 + 6 1504 c.1389A>C c.(1387-1389)TCA>TCC p.S463S TRIML1_uc003izn.1_Silent_p.S187S NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 463 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCATCTGCTCACTGAACAGCC 0.557 Melanoma(31;213 1036 16579 23968 32372) NA 21 39 0 0 0.010504 0 0 EXOC3 11336 broad.mit.edu 37 5 457103 457103 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:457103G>T uc003jba.2 + 5 1274 c.1146G>T c.(1144-1146)ACG>ACT p.T382T NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 393 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGCTTGACACGTACATGTCCA 0.587 NA 21 22 5.26018e-13 8.05982e-13 0.001882 1 0 KIAA0947 23379 broad.mit.edu 37 5 5461256 5461256 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:5461256T>C uc003jdm.3 + 13 2031 c.1809T>C c.(1807-1809)ACT>ACC p.T603T NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 603 ovary(1)|central_nervous_system(1) 2 AAGGGTTCACTTTAGGAGAAT 0.408 NA 44 92 0 0 0.002522 0 0 FAM173B 134145 broad.mit.edu 37 5 10227695 10227695 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:10227695C>G uc003jeo.2 - 5 589 c.560G>C c.(559-561)CGG>CCG p.R187P FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R170P NM_199133 NP_954584 Q6P4H8 F173B_HUMAN hypothetical protein LOC134145 187 integral to membrane kidney(1)|central_nervous_system(1) 2 GAAAGGGAACCGGCAAGCAAT 0.488 NA 11 40 0 0 0.001368 0 0 CTNND2 1501 broad.mit.edu 37 5 11384964 11384964 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:11384964G>T uc003jfa.1 - 7 1135 c.990C>A c.(988-990)CGC>CGA p.R330R CTNND2_uc010itt.2_Silent_p.R239R|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 330 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GCGAGGTCACGCGGATCGGGG 0.647 NA 7 8 5.18039e-06 6.17778e-06 0.00308 1 0 FBXL7 23194 broad.mit.edu 37 5 15616169 15616169 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:15616169G>C uc003jfn.1 + 2 596 c.115G>C c.(115-117)GCT>CCT p.A39P NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 39 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GAAGAATGTGGCTACCAGCGA 0.473 NA 10 25 0 0 0.008291 0 0 CDH18 1016 broad.mit.edu 37 5 19473591 19473591 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:19473591G>T uc003jgc.2 - 12 2494 c.2117C>A c.(2116-2118)ACC>AAC p.T706N CDH18_uc003jgd.2_Missense_Mutation_p.T706N|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 706 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GCTTTCCAGGGTGGATGATGT 0.493 NA 19 49 1.56452e-12 2.3653e-12 0.007413 1 0 GUSBP1 728411 broad.mit.edu 37 5 21459682 21459682 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:21459682G>T uc010iub.2 + 1 94 c.14G>T c.(13-15)GGG>GTG p.G5V GUSBP1_uc011cnn.1_Intron|GUSBP1_uc003jgh.3_RNA|GUSBP1_uc003jgf.3_Missense_Mutation_p.G5V|GUSBP1_uc003jgg.3_RNA NR_027028 SubName: Full=Putative uncharacterized protein GUSBL2; 0 GAGCGCTCTGGGCCCAGCGAA 0.637 NA OREG0016459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 123 4.36969e-10 6.07595e-10 0.001855 1 0 EGFLAM 133584 broad.mit.edu 37 5 38338879 38338879 + Missense_Mutation SNP C C A rs74624102 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:38338879C>A uc003jlc.1 + 3 611 c.287C>A c.(286-288)ACC>AAC p.T96N EGFLAM_uc003jlb.1_Missense_Mutation_p.T96N NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 96 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) GACATCCCGACCACGGTGAGT 0.522 Colon(62;485 1295 3347 17454) NA 10 21 3.86212e-05 4.42498e-05 0.008291 1 0 LIFR 3977 broad.mit.edu 37 5 38493779 38493779 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:38493779G>T uc010ive.1 - 14 2326 c.1994C>A c.(1993-1995)TCT>TAT p.S665Y LIFR_uc003jli.2_Missense_Mutation_p.S665Y NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 665 Fibronectin type-III 5.|Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TTCCGACCGAGACGAGTTACA 0.438 Melanoma(13;4 730 6426 9861 34751) NA T PLAG1 salivary adenoma 36 169 3.6622e-26 6.68351e-26 0.003755 1 0 C7 730 broad.mit.edu 37 5 40950059 40950059 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:40950059G>T uc003jmh.2 + 9 1150 c.1036G>T c.(1036-1038)GTT>TTT p.V346F C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 346 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GCATTTTGTCGTTAAATTTTC 0.348 NA 6 7 2.0095e-06 2.43619e-06 0.001984 1 0 PARP8 79668 broad.mit.edu 37 5 50111265 50111265 + Splice_Site SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:50111265G>T uc003jon.3 + 16 1758 c.1576_splice c.e16-1 p.P526_splice PARP8_uc011cpz.1_Splice_Site_p.P418_splice|PARP8_uc003joo.2_Splice_Site_p.P526_splice|PARP8_uc003jop.2_Splice_Site_p.P526_splice NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TTCTTTTGTAGCCTACCGTAT 0.353 NA 12 21 4.14922e-12 6.17249e-12 0.004007 1 0 FST 10468 broad.mit.edu 37 5 52781807 52781807 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:52781807G>T uc003jpd.2 + 6 1006 c.979G>T c.(979-981)GAG>TAG p.E327* FST_uc003jpc.2_3'UTR NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 327 Asp/Glu-rich (highly acidic). hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CGAGGAAGAGGAGGAAGATGA 0.438 NA 36 64 3.61848e-18 6.17376e-18 0.007835 1 0 DHX29 54505 broad.mit.edu 37 5 54567931 54567931 + Nonsense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:54567931T>A uc003jpx.2 - 18 2968 c.2848A>T c.(2848-2850)AGA>TGA p.R950* DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 950 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TCTTTTGTTCTTCCAGTATCA 0.308 NA 8 5 0 0 0.00308 0 0 PDE4D 5144 broad.mit.edu 37 5 58273027 58273027 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:58273027G>T uc003jsa.2 - 12 1870 c.1698C>A c.(1696-1698)GTC>GTA p.V566V PDE4D_uc003jrx.2_Silent_p.V430V|PDE4D_uc003jry.2_Silent_p.V264V|PDE4D_uc003jrz.2_Silent_p.V502V|PDE4D_uc003jsb.2_Silent_p.V505V|PDE4D_uc003jrt.2_Silent_p.V264V|PDE4D_uc003jru.2_Silent_p.V342V|PDE4D_uc003jrv.2_Silent_p.V436V|PDE4D_uc003jrw.2_Silent_p.V444V|PDE4D_uc003jrs.2_Silent_p.V275V NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 566 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CGATGTCAATGACCATTTTCC 0.338 NA 22 44 1.55469e-16 2.58778e-16 0.00333 1 0 PAM 5066 broad.mit.edu 37 5 102260668 102260668 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:102260668G>T uc003knw.2 + 5 737 c.364G>T c.(364-366)GAT>TAT p.D122Y PAM_uc003kns.2_Missense_Mutation_p.D122Y|PAM_uc003knt.2_Missense_Mutation_p.D122Y|PAM_uc003knu.2_Missense_Mutation_p.D122Y|PAM_uc003knv.2_Missense_Mutation_p.D122Y|PAM_uc011cuz.1_Missense_Mutation_p.D25Y NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 122 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CAGGTTTTGTGATGAAGGAAC 0.438 NA 31 33 1.61788e-16 2.68421e-16 0.002445 1 0 TSLP 85480 broad.mit.edu 37 5 110407739 110407739 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:110407739C>A uc003kpb.2 + 1 350 c.151C>A c.(151-153)CTG>ATG p.L51M TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 51 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) TTCTAAAGACCTGATTACATA 0.358 NA 28 37 1.80694e-10 2.55069e-10 0.009535 1 0 APC 324 broad.mit.edu 37 5 112178228 112178228 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:112178228G>T uc010jby.2 + 16 7317 c.6937G>T c.(6937-6939)GCC>TCC p.A2313S APC_uc011cvt.1_Missense_Mutation_p.A2295S|APC_uc003kpz.3_Missense_Mutation_p.A2313S|APC_uc003kpy.3_Missense_Mutation_p.A2313S|APC_uc010jbz.2_Missense_Mutation_p.A2030S|APC_uc010jca.2_Missense_Mutation_p.A1613S NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2313 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTCAAGACCTGCCCAGCAACC 0.453 NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 17 23 1.01871e-10 1.44802e-10 0.008871 1 0 SEMA6A 57556 broad.mit.edu 37 5 115838024 115838024 + Splice_Site SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:115838024C>A uc010jck.2 - 3 810 c.101_splice c.e3-1 p.Y34_splice SEMA6A_uc003krx.3_Splice_Site_p.Y34_splice NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGTTTTGTATCTGTGAAAAGA 0.498 NA 35 45 6.84511e-11 9.75691e-11 0.003271 1 0 MEGF10 84466 broad.mit.edu 37 5 126734443 126734443 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:126734443G>T uc003kuh.3 + 8 1097 c.735G>T c.(733-735)GTG>GTT p.V245V MEGF10_uc010jdc.1_Silent_p.V245V|MEGF10_uc010jdd.1_Silent_p.V245V|MEGF10_uc003kui.3_Silent_p.V245V NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 245 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATGGAGGAGTGTGTCATCACG 0.522 NA 22 37 5.35356e-11 7.68446e-11 0.00278 1 0 MEGF10 84466 broad.mit.edu 37 5 126771052 126771052 + Splice_Site SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:126771052G>A uc003kuh.3 + 17 2338 c.1976_splice c.e17-1 p.V659_splice MEGF10_uc003kui.3_Splice_Site_p.V659_splice NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTTATTCACAGTGTGTCCCAG 0.343 NA 13 19 0 0 0.001855 0 0 FBN2 2201 broad.mit.edu 37 5 127648464 127648464 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:127648464G>T uc003kuu.2 - 37 5180 c.4741C>A c.(4741-4743)CTG>ATG p.L1581M NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1581 TB 6. 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) CCAAACTTCAGGTAGCAGTTG 0.522 NA 80 93 6.71967e-41 1.28125e-40 0.00361 1 0 FBN2 2201 broad.mit.edu 37 5 127712525 127712525 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:127712525G>C uc003kuu.2 - 14 2310 c.1871C>G c.(1870-1872)ACC>AGC p.T624S FBN2_uc003kuv.2_Missense_Mutation_p.T591S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 624 EGF-like 9; calcium-binding. 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) ACACATGTTGGTAGTTGTACA 0.438 NA 41 53 0 0 0.002522 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128844829 128844829 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:128844829G>T uc003kvb.1 + 3 789 c.789G>T c.(787-789)ATG>ATT p.M263I ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 263 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATGATACAATGGCCATAACAG 0.383 NA 21 23 1.36565e-18 2.33784e-18 0.00278 1 0 CHSY3 337876 broad.mit.edu 37 5 129520233 129520233 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:129520233G>C uc003kvd.2 + 3 1398 c.1398G>C c.(1396-1398)TGG>TGC p.W466C NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 466 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TGATAGAATGGGAGTTCCTGA 0.502 NA 14 19 0 0 0.001855 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181958 140181958 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:140181958C>T uc003lhf.2 + 1 1176 c.1176C>T c.(1174-1176)CAC>CAT p.H392H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.H392H NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 392 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACGCCCCACGTCCCCTTCA 0.567 NA 54 63 0 0 0.00361 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745167 140745167 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:140745167G>C uc003lju.1 + 1 1270 c.1270G>C c.(1270-1272)GTC>CTC p.V424L 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_uc011das.1_Missense_Mutation_p.V424L NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 424 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTTTAACCGTCATGGACCA 0.438 NA 36 38 0 0 0.002836 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746231 140746231 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:140746231G>T uc003lju.1 + 1 2334 c.2334G>T c.(2332-2334)ACG>ACT p.T778T 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_uc011das.1_Silent_p.T778T NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 778 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCAGACACGCTCCTTAGTG 0.522 NA 16 107 4.14922e-12 6.17249e-12 0.004007 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140754620 140754620 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:140754620G>T uc003ljy.1 + 1 970 c.970G>T c.(970-972)GGG>TGG p.G324W 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_uc011dau.1_Missense_Mutation_p.G324W NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 324 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCGGGATGGGCCAGGTCT 0.408 NA 56 77 3.63617e-18 6.19361e-18 0.00361 1 0 SPINK13 153218 broad.mit.edu 37 5 147661755 147661755 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:147661755A>C uc003lpc.2 + 4 259 c.197A>C c.(196-198)CAC>CCC p.H66P uc003lpb.1_Intron|SPINK13_uc010jgt.2_RNA NM_001040129 NP_001035218 Q1W4C9 ISK13_HUMAN serine PI Kazal type 5-like 3 precursor 66 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity 0 TCAAATGGCCACACTTTCCAG 0.279 NA 3 77 0 0 0.004672 0 0 CYFIP2 26999 broad.mit.edu 37 5 156751011 156751011 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:156751011G>T uc003lwq.2 + 18 1892 c.1754G>T c.(1753-1755)GGA>GTA p.G585V CYFIP2_uc011ddn.1_Missense_Mutation_p.G559V|CYFIP2_uc011ddo.1_Missense_Mutation_p.G389V|CYFIP2_uc003lwr.2_Missense_Mutation_p.G585V|CYFIP2_uc003lws.2_Missense_Mutation_p.G585V|CYFIP2_uc003lwt.2_Missense_Mutation_p.G488V|CYFIP2_uc011ddp.1_Missense_Mutation_p.G319V NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 610 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGCCTGGATGGACCCATTGTC 0.502 NA 9 11 3.86212e-05 4.42498e-05 0.008291 1 0 WWC1 23286 broad.mit.edu 37 5 167850650 167850650 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:167850650A>G uc003lzu.2 + 11 1480 c.1387A>G c.(1387-1389)ACT>GCT p.T463A WWC1_uc003lzv.2_Missense_Mutation_p.T463A|WWC1_uc011den.1_Missense_Mutation_p.T463A|WWC1_uc003lzw.2_Missense_Mutation_p.T262A NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 463 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGCCAGCTTCACTGACCTCTA 0.642 NA 35 38 0 0 0.004878 0 0 GABRP 2568 broad.mit.edu 37 5 170235647 170235647 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:170235647T>C uc003mau.2 + 8 921 c.723T>C c.(721-723)AAT>AAC p.N241N GABRP_uc011dev.1_Silent_p.N241N NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 241 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCGGAGGAATGTTCTGTATT 0.418 NA 6 39 0 0 0.001168 0 0 RNF44 22838 broad.mit.edu 37 5 175959138 175959138 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:175959138G>A uc003mek.1 - 3 689 c.164C>T c.(163-165)TCC>TTC p.S55F RNF44_uc011dfo.1_Intron|RNF44_uc003mel.1_5'Flank NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN ring finger protein 44 55 Pro-rich. zinc ion binding 0 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGCTGCTGGGAGGGTAAGCG 0.741 NA 12 8 0 0 0.001368 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179290820 179290820 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:179290820C>G uc003mlh.2 - 22 3418 c.3381G>C c.(3379-3381)GTG>GTC p.V1127V TBC1D9B_uc003mli.2_Silent_p.V1110V|TBC1D9B_uc003mlj.2_Silent_p.V1109V|TBC1D9B_uc003mlf.2_Silent_p.V201V|TBC1D9B_uc003mlg.2_Silent_p.V286V|TBC1D9B_uc011dgv.1_Silent_p.V286V NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1127 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCCTCCACCACCACCTGGC 0.637 NA 37 50 0 0 0.009718 0 0 BTNL8 79908 broad.mit.edu 37 5 180338529 180338529 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:180338529C>A uc003mmp.2 + 3 822 c.588C>A c.(586-588)ACC>ACA p.T196T BTNL8_uc003mmq.2_Silent_p.T196T|BTNL8_uc011dhg.1_Silent_p.T71T|BTNL8_uc010jll.2_Silent_p.T196T|BTNL8_uc010jlm.2_Silent_p.T80T|BTNL8_uc011dhh.1_Silent_p.T12T NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 196 Ig-like V-type 2.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCTCTGACCGTCCAAGAGA 0.547 NA 33 34 1.99505e-19 3.43835e-19 0.002445 1 0 RREB1 6239 broad.mit.edu 37 6 7230553 7230553 + Missense_Mutation SNP G G C rs142616407 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:7230553G>C uc003mxc.2 + 10 2611 c.2221G>C c.(2221-2223)GCG>CCG p.A741P RREB1_uc003mxb.2_Missense_Mutation_p.A741P|RREB1_uc010jnx.2_Missense_Mutation_p.A741P NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 741 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GAGTAGCAGCGCGGCCGAGCT 0.627 NA 13 30 0 0 0.004007 0 0 NUP153 9972 broad.mit.edu 37 6 17688816 17688816 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:17688816T>C uc003ncd.1 - 2 345 c.145A>G c.(145-147)AAT>GAT p.N49D NUP153_uc011dje.1_Missense_Mutation_p.N49D|NUP153_uc010jpl.1_Missense_Mutation_p.N49D NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 49 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGCACAATATTCTTAACAGAT 0.368 NA 12 117 0 0 0.00245 0 0 OR2W1 26692 broad.mit.edu 37 6 29012594 29012594 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:29012594T>A uc003nlw.2 - 1 359 c.359A>T c.(358-360)TAT>TTT p.Y120F NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AAAACGATCATAGGACATAAC 0.403 NA 17 24 0 0 0.004007 0 0 C6orf27 80737 broad.mit.edu 37 6 31735274 31735274 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:31735274C>G uc011dog.1 - 12 1892 c.1654G>C c.(1654-1656)GAG>CAG p.E552Q C6orf27_uc003nxd.2_Missense_Mutation_p.E227Q NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 552 extracellular region ovary(3) 3 CCGCCTTCCTCCTGGCCCTGG 0.592 NA 53 151 0 0 0.00361 0 0 PBX2 5089 broad.mit.edu 37 6 32155933 32155934 + Splice_Site DNP CC CC AA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:32155933_32155934CC>AA uc003oav.1 - 4 815 c.544_splice c.e4-1 p.A182_splice PBX2_uc003oaw.2_Splice_Site_p.A182_splice NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 transcription factor binding ovary(1) 1 TCATTACATGCCTGTAGTGGGG 0.604 NA 11 21 0 0 0.004672 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188606 32188606 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:32188606G>T uc003obb.2 - 5 988 c.849C>A c.(847-849)CAC>CAA p.H283Q NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.H283Q NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 283 EGF-like 7; calcium-binding (Potential).|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TCTGACACTGGTGGCTGACAC 0.557 NA 52 114 1.13205e-32 2.12675e-32 0.00361 1 0 FKBP5 2289 broad.mit.edu 37 6 35588009 35588009 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:35588009T>C uc011dte.1 - 4 496 c.293A>G c.(292-294)AAG>AGG p.K98R FKBP5_uc003okx.2_Missense_Mutation_p.K98R|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.K98R|FKBP5_uc003okz.2_Missense_Mutation_p.K98R NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 98 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 CTCTCCTTTCTTCATGGTAGC 0.423 NA 38 38 0 0 0.004878 0 0 DNAH8 1769 broad.mit.edu 37 6 38835952 38835952 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:38835952G>A uc003ooe.1 + 46 6757 c.6157G>A c.(6157-6159)GAT>AAT p.D2053N 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 AGGACTAAGAGATATGAACCT 0.363 NA 35 21 0 0 0.00623 0 0 KIAA0240 23506 broad.mit.edu 37 6 42832695 42832695 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:42832695G>T uc003osn.1 + 13 2902 c.2751G>T c.(2749-2751)ACG>ACT p.T917T KIAA0240_uc011duw.1_Silent_p.T917T|KIAA0240_uc003osp.1_Silent_p.T917T NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 917 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) ACCAGAGCACGTCTGAAGAGA 0.522 NA 25 13 3.28513e-13 5.05632e-13 0.003954 1 0 PKHD1 5314 broad.mit.edu 37 6 51890625 51890625 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:51890625A>T uc003pah.1 - 32 4259 c.3983T>A c.(3982-3984)GTC>GAC p.V1328D PKHD1_uc003pai.2_Missense_Mutation_p.V1328D NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1328 IPT/TIG 8; atypical.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CAGAAGGATGACTGAGTTGGA 0.527 NA 18 28 0 0 0.00499 0 0 PKHD1 5314 broad.mit.edu 37 6 51944753 51944753 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:51944753C>A uc003pah.1 - 5 611 c.335G>T c.(334-336)GGG>GTG p.G112V PKHD1_uc003pai.2_Missense_Mutation_p.G112V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 112 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CAGCTGTCCCCCGAAGTATGC 0.463 NA 78 82 2.22156e-40 4.22799e-40 0.00361 1 0 EYS 346007 broad.mit.edu 37 6 66063473 66063473 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:66063473C>A uc011dxu.1 - 9 1875 c.1337G>T c.(1336-1338)TGG>TTG p.W446L EYS_uc003peq.2_Missense_Mutation_p.W446L|EYS_uc003per.1_Missense_Mutation_p.W446L NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 446 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CTTCAAAAACCAACATGGATT 0.333 NA 7 30 0.00198382 0.00213417 0.001984 1 0 BAI3 577 broad.mit.edu 37 6 70065732 70065732 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:70065732T>C uc003pev.3 + 28 4023 c.3575T>C c.(3574-3576)GTA>GCA p.V1192A BAI3_uc010kak.2_Missense_Mutation_p.V1192A|BAI3_uc011dxx.1_Missense_Mutation_p.V398A NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1192 Cytoplasmic (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) GAAAAGGATGTAGACATTGCC 0.289 NA 38 45 0 0 0.002852 0 0 SNAP91 9892 broad.mit.edu 37 6 84350818 84350818 + Silent SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:84350818T>G uc011dze.1 - 8 1079 c.762A>C c.(760-762)GCA>GCC p.A254A SNAP91_uc003pkb.2_Silent_p.A219A|SNAP91_uc003pkc.2_Silent_p.A254A|SNAP91_uc003pkd.2_Silent_p.A254A|SNAP91_uc003pka.2_Silent_p.A254A|SNAP91_uc011dzf.1_Silent_p.A135A NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 254 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TACTTACCTCTGCAACCTTGA 0.299 NA 2 1 0 0 0.004672 0 0 MCHR2 84539 broad.mit.edu 37 6 100395640 100395640 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:100395640G>A uc003pqh.1 - 3 705 c.390C>T c.(388-390)GAC>GAT p.D130D MCHR2_uc003pqi.1_Silent_p.D130D NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 130 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TCACTTACCTGTCCACACTCA 0.443 NA 60 94 0 0 0.00361 0 0 REV3L 5980 broad.mit.edu 37 6 111695587 111695587 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:111695587C>G uc003puy.3 - 13 4294 c.3971G>C c.(3970-3972)TGT>TCT p.C1324S REV3L_uc003pux.3_Missense_Mutation_p.C1246S|REV3L_uc003puz.3_Missense_Mutation_p.C1246S NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1324 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TATAGAATTACAAACAACTGA 0.348 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 12 123 0 0 0.000978 0 0 LAMA4 3910 broad.mit.edu 37 6 112439054 112439054 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:112439054G>T uc003pvu.2 - 35 5178 c.4869C>A c.(4867-4869)CTC>CTA p.L1623L LAMA4_uc003pvv.2_Silent_p.L1616L|LAMA4_uc003pvt.2_Silent_p.L1616L NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1623 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AGGCCCCATTGAGCTGGAGAT 0.433 NA 13 94 7.03913e-09 9.30658e-09 0.001368 1 0 GJA1 2697 broad.mit.edu 37 6 121769099 121769099 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:121769099G>A uc003pyr.2 + 2 1356 c.1106G>A c.(1105-1107)AGT>AAT p.S369N GJA1_uc011ebo.1_Missense_Mutation_p.S270N|GJA1_uc011ebp.1_Missense_Mutation_p.S157N NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 369 Cytoplasmic (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) AGAGCCAGCAGTCGTGCCAGC 0.483 NA 16 45 0 0 0.006122 0 0 TRMT11 60487 broad.mit.edu 37 6 126319418 126319418 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:126319418T>C uc003qam.2 + 5 465 c.344T>C c.(343-345)TTT>TCT p.F115S TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Missense_Mutation_p.F115S NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 115 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) ATTCACACTTTTAATAAGACA 0.294 NA 3 19 0 0 0.004672 0 0 EPB41L2 2037 broad.mit.edu 37 6 131247753 131247753 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:131247753C>A uc003qch.2 - 4 984 c.802G>T c.(802-804)GAG>TAG p.E268* EPB41L2_uc003qcg.1_Nonsense_Mutation_p.E268*|EPB41L2_uc011eby.1_Nonsense_Mutation_p.E268*|EPB41L2_uc003qci.2_Nonsense_Mutation_p.E268*|EPB41L2_uc010kfk.2_Nonsense_Mutation_p.E268*|EPB41L2_uc010kfl.1_Nonsense_Mutation_p.E268* NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 268 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ACTTTCTGCTCAGGGCTTTCC 0.313 NA 15 85 3.45872e-05 4.03057e-05 0.004007 1 0 VNN1 8876 broad.mit.edu 37 6 133004338 133004338 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:133004338G>T uc003qdo.2 - 7 1503 c.1483C>A c.(1483-1485)CAA>AAA p.Q495K VNN1_uc003qdn.2_RNA NM_004666 NP_004657 O95497 VNN1_HUMAN vanin 1 precursor 495 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity ovary(3) 3 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) ATTCTTGCTTGTGCTGTGAGG 0.368 NA 16 58 6.49762e-13 9.94097e-13 0.006122 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135250221 135250221 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:135250221C>A uc003qew.2 - 6 1035 c.982G>T c.(982-984)GCT>TCT p.A328S ALDH8A1_uc003qex.2_Intron|ALDH8A1_uc010kgh.2_Intron|ALDH8A1_uc011ecx.1_Missense_Mutation_p.A278S NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 328 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CTTATCAGAGCACCTATGCTC 0.388 NA 11 54 6.40141e-05 7.26916e-05 0.000978 1 0 KIAA1244 57221 broad.mit.edu 37 6 138584671 138584671 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:138584671T>A uc003qhu.2 + 12 2051 c.2051T>A c.(2050-2052)CTC>CAC p.L684H NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 684 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GAAGGCCTCCTCCCTCGGCTC 0.557 NA 7 53 0 0 0.00308 0 0 TXLNB 167838 broad.mit.edu 37 6 139569031 139569031 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:139569031C>A uc011eds.1 - 8 1258 c.1093G>T c.(1093-1095)GGA>TGA p.G365* NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 365 cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TCAAACCTTCCTGAGTAGAGA 0.378 NA 29 52 1.88708e-17 3.19305e-17 0.008361 1 0 AIG1 51390 broad.mit.edu 37 6 143605319 143605319 + Nonsense_Mutation SNP G G T rs115165047 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:143605319G>T uc003qjh.2 + 4 512 c.472G>T c.(472-474)GGA>TGA p.G158* AIG1_uc003qjf.2_Nonsense_Mutation_p.G148*|AIG1_uc003qji.2_Nonsense_Mutation_p.G96* NM_016108 NP_057192 Q9NVV5 AIG1_HUMAN androgen-induced 1 158 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) CAGGAGCAGCGGACTTACCGC 0.443 NA 10 27 3.07112e-06 3.68823e-06 0.000978 1 0 SF3B5 83443 broad.mit.edu 37 6 144416564 144416564 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:144416564G>A uc003qkr.1 - 1 191 c.71C>T c.(70-72)GCC>GTC p.A24V NM_031287 NP_112577 Q9BWJ5 SF3B5_HUMAN SF3b10 24 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex 0 OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638) GGTGGTGTCGGCGTGGCCCGT 0.597 NA 3 30 0 0 0.004672 0 0 OPRM1 4988 broad.mit.edu 37 6 154410984 154410984 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:154410984C>A uc003qpr.2 + 2 551 c.314C>A c.(313-315)ACC>AAC p.T105N OPRM1_uc011efb.1_Missense_Mutation_p.T153N|OPRM1_uc011efc.1_Missense_Mutation_p.T24N|OPRM1_uc011efd.1_Missense_Mutation_p.T5N|OPRM1_uc011efe.1_Missense_Mutation_p.T198N|OPRM1_uc003qpn.2_Missense_Mutation_p.T105N|OPRM1_uc003qpo.1_Missense_Mutation_p.T105N|OPRM1_uc011eff.1_Missense_Mutation_p.T105N|OPRM1_uc011efg.1_Missense_Mutation_p.T105N|OPRM1_uc011efh.1_Missense_Mutation_p.T105N|OPRM1_uc003qpq.1_Missense_Mutation_p.T105N|OPRM1_uc003qpt.1_Missense_Mutation_p.T105N|OPRM1_uc011efi.1_Missense_Mutation_p.T105N|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.T5N|OPRM1_uc003qpu.2_Missense_Mutation_p.T5N NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 105 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AAGACTGCCACCAACATCTAC 0.413 NA 27 43 2.79863e-10 3.91809e-10 0.004656 1 0 ARID1B 57492 broad.mit.edu 37 6 157222534 157222534 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:157222534G>T uc003qqn.2 + 3 1740 c.1588G>T c.(1588-1590)GGT>TGT p.G530C ARID1B_uc003qqo.2_Missense_Mutation_p.G543C|ARID1B_uc003qqp.2_Missense_Mutation_p.G530C NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 588 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TGGACAGCAAGGTGTGAGTGG 0.498 NA 3 32 2.56e-06 3.08893e-06 0.009096 1 0 FAM120B 84498 broad.mit.edu 37 6 170627610 170627610 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr6:170627610C>A uc003qxp.2 + 2 1240 c.1132C>A c.(1132-1134)CCC>ACC p.P378T FAM120B_uc003qxo.1_Missense_Mutation_p.P378T|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 378 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GCAAGAAGTTCCCATGTGTTC 0.527 NA 69 129 1.26778e-28 2.33876e-28 0.00361 1 0 SUN1 23353 broad.mit.edu 37 7 883154 883154 + Nonsense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:883154A>T uc011jvp.1 + 6 734 c.655A>T c.(655-657)AAA>TAA p.K219* SUN1_uc010ksa.1_Nonsense_Mutation_p.K240*|SUN1_uc003sje.1_Nonsense_Mutation_p.K219*|SUN1_uc003sjf.2_Nonsense_Mutation_p.K169*|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Nonsense_Mutation_p.K30* NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 219 SYNE2-binding.|Nuclear. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 CAGGAATCAAAAATGTAAGTC 0.488 NA 19 321 0 0 0.003954 0 0 C7orf27 221927 broad.mit.edu 37 7 2593983 2593983 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:2593983C>A uc003smi.2 - 2 125 c.83G>T c.(82-84)TGT>TTT p.C28F C7orf27_uc003smj.1_Missense_Mutation_p.C28F NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 28 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) CTTCTCCAAACAGGTGTCATC 0.592 NA 26 87 3.65163e-15 5.90501e-15 0.00632 1 0 MMD2 221938 broad.mit.edu 37 7 4947150 4947150 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:4947150C>A uc003sno.3 - 7 886 c.690G>T c.(688-690)GGG>GGT p.G230G MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Silent_p.G206G|MMD2_uc010ksq.2_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 230 Cytoplasmic (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) AGGGGATCCTCCCGTCACTCT 0.582 NA 44 43 9.39024e-22 1.65462e-21 0.009718 1 0 THSD7A 221981 broad.mit.edu 37 7 11871417 11871417 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:11871417C>A uc003ssf.3 - 1 408 c.156G>T c.(154-156)GAG>GAT p.E52D NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 52 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCGCCTCCGCCTCGCCCTGCG 0.458 NA HNSCC(18;0.044) 8 9 0.00307968 0.00329919 0.00308 1 0 MGC87042 256227 broad.mit.edu 37 7 22534440 22534440 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:22534440T>C uc003svh.2 - 2 132 c.35A>G c.(34-36)GAA>GGA p.E12G MGC87042_uc010kum.1_Missense_Mutation_p.E12G Q6NZ63 STEAL_HUMAN SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1; 12 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 TTTCCAAATTTCTTCTTGGTT 0.239 NA 22 30 0 0 0.003954 0 0 FAM126A 84668 broad.mit.edu 37 7 22999980 22999980 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:22999980C>T uc003svm.3 - 10 1141 c.886G>A c.(886-888)GAA>AAA p.E296K FAM126A_uc003svn.3_Missense_Mutation_p.E152K NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 296 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 CTTGTACCTTCCTTATTAGAT 0.383 NA 41 130 0 0 0.007835 0 0 C7orf46 340277 broad.mit.edu 37 7 23729051 23729051 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:23729051G>A uc003swo.3 + 3 492 c.403G>A c.(403-405)GCT>ACT p.A135T C7orf46_uc003swq.3_Missense_Mutation_p.A135T|C7orf46_uc003swr.3_Missense_Mutation_p.A77T|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA NM_199136 NP_954587 A4D161 CG046_HUMAN hypothetical protein LOC340277 isoform 1 135 0 TCAGCACAGTGCTGCGCCTGG 0.428 NA 4 54 0 0 0.009096 0 0 INMT 11185 broad.mit.edu 37 7 30795407 30795407 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:30795407C>A uc003tbs.1 + 3 748 c.732C>A c.(730-732)GTC>GTA p.V244V FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.V243V NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 244 cytoplasm amine N-methyltransferase activity 0 GCTACTCTGTCACCAATGCTG 0.592 NA 33 96 8.4185e-14 1.32161e-13 0.002445 1 0 HERPUD2 64224 broad.mit.edu 37 7 35733802 35733802 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:35733802T>C uc003tet.2 - 1 944 c.139A>G c.(139-141)AGC>GGC p.S47G HERPUD2_uc003tes.3_Missense_Mutation_p.S47G|uc003teu.3_5'Flank NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 47 Ubiquitin-like. response to unfolded protein integral to membrane ovary(3) 3 ACTGGTTTGCTAGGGTAAACG 0.478 NA 28 136 0 0 0.003271 0 0 PKD1L1 168507 broad.mit.edu 37 7 47852796 47852796 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:47852796C>T uc003tny.1 - 49 7269 c.7269G>A c.(7267-7269)GAG>GAA p.E2423E C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.E150E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2423 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CGTTTTGGTTCTCTGGGTCTA 0.562 NA 54 65 0 0 0.00361 0 0 ABCA13 154664 broad.mit.edu 37 7 48237881 48237881 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:48237881G>T uc003toq.2 + 3 236 c.211G>T c.(211-213)GTT>TTT p.V71F ABCA13_uc003top.2_Missense_Mutation_p.V71F|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 71 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TATCCCCTTTGTTCAAAGCCT 0.423 NA 16 32 2.4624e-09 3.3288e-09 0.008871 1 0 ABCA13 154664 broad.mit.edu 37 7 48314899 48314899 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:48314899G>T uc003toq.2 + 17 5661 c.5636G>T c.(5635-5637)CGA>CTA p.R1879L ABCA13_uc010kyr.2_Missense_Mutation_p.R1382L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1879 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GAAAGCTCCCGAATGGAAATA 0.403 NA 41 34 4.92203e-23 8.82511e-23 0.00623 1 0 POM121L12 285877 broad.mit.edu 37 7 53104043 53104043 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:53104043G>T uc003tpz.2 + 1 695 c.679G>T c.(679-681)GCT>TCT p.A227S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 227 0 TGGAGCGGTTGCTTCCTTCGT 0.647 NA 21 63 1.55795e-14 2.48396e-14 0.001882 1 0 CALN1 83698 broad.mit.edu 37 7 71275385 71275385 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:71275385G>T uc003twa.3 - 5 995 c.468C>A c.(466-468)ATC>ATA p.I156I CALN1_uc003twb.3_Silent_p.I198I|CALN1_uc003twc.3_Silent_p.I156I NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 156 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CATTGATAATGATGTTCTCAA 0.507 NA 34 64 9.78485e-24 1.77307e-23 0.002836 1 0 PCLO 27445 broad.mit.edu 37 7 82544891 82544891 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:82544891C>A uc003uhx.2 - 7 12700 c.12411G>T c.(12409-12411)GAG>GAT p.E4137D PCLO_uc003uhv.2_Missense_Mutation_p.E4137D|PCLO_uc010lec.2_Missense_Mutation_p.E1102D NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4068 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GATCTAAGCTCTCTGTCCCTC 0.413 NA 13 81 9.31168e-06 1.10145e-05 0.001855 1 0 COL1A2 1278 broad.mit.edu 37 7 94024365 94024365 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:94024365C>A uc003ung.1 + 1 493 c.22C>A c.(22-24)CGG>AGG p.R8R COL1A2_uc011kib.1_Silent_p.R8R NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 8 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGTGGATACGCGGACTTTGTT 0.552 NA HNSCC(75;0.22) OREG0018169 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 72 6.29468e-14 9.92773e-14 0.004878 1 0 TRRAP 8295 broad.mit.edu 37 7 98508005 98508005 + Silent SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:98508005A>C uc003upp.2 + 15 1886 c.1677A>C c.(1675-1677)ACA>ACC p.T559T TRRAP_uc011kis.1_Silent_p.T559T|TRRAP_uc003upr.2_Silent_p.T251T NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 559 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTGTCAAGACAATCACGTGGG 0.418 NA 7 333 0 0 0.004482 0 0 GATS 352954 broad.mit.edu 37 7 99821629 99821629 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:99821629C>A uc003uua.3 - 3 536 c.287G>T c.(286-288)GGT>GTT p.G96V GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA NM_178831 NP_849153 Q8NAP1 GATS_HUMAN GATS, stromal antigen 3 opposite strand 96 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAAGCTGCCACCGCCGGACAC 0.617 NA 151 46 1.73214e-63 3.3338e-63 0.00361 1 0 MUC17 140453 broad.mit.edu 37 7 100684607 100684607 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:100684607A>C uc003uxp.1 + 3 9963 c.9910A>C c.(9910-9912)ACT>CCT p.T3304P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3304 Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCTTTCAACAACTCCTGCTGA 0.493 NA 10 496 0 0 0.003163 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377165 104377165 + Nonsense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:104377165G>A uc003vce.2 + 2 613 c.489G>A c.(487-489)TGG>TGA p.W163* LHFPL3_uc003vcf.2_Nonsense_Mutation_p.W163* NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 149 integral to membrane 0 CTGATGGCTGGGACTCAGATG 0.423 NA 18 19 0 0 0.007413 0 0 CDHR3 222256 broad.mit.edu 37 7 105662892 105662892 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:105662892A>T uc003vdl.3 + 14 2182 c.2074A>T c.(2074-2076)AGG>TGG p.R692W CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.R679W|CDHR3_uc011klt.1_Missense_Mutation_p.R604W|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 692 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CACGACCCCCAGGGTAAGGGC 0.522 NA 310 108 0 0 0.00361 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431569 117431569 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:117431569G>T uc003vjf.2 - 4 1773 c.1681C>A c.(1681-1683)CCC>ACC p.P561T NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 561 Pro-rich. 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) TTGAGTTGGGGGTGTGGTGGA 0.502 NA 158 411 2.01345e-68 3.88988e-68 0.00361 1 0 KCND2 3751 broad.mit.edu 37 7 119915119 119915119 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:119915119G>T uc003vjj.1 + 1 1398 c.433G>T c.(433-435)GCC>TCC p.A145S NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 145 Cytoplasmic (Potential). 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) GCGAGAGAACGCCGAGCGCCT 0.602 NA 364 95 2.86298e-183 5.55212e-183 0.00361 1 0 C7orf58 79974 broad.mit.edu 37 7 120704314 120704314 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:120704314A>C uc003vjq.3 + 5 1010 c.563A>C c.(562-564)CAG>CCG p.Q188P C7orf58_uc003vjr.1_Missense_Mutation_p.Q188P|C7orf58_uc003vjs.3_Missense_Mutation_p.Q188P|C7orf58_uc003vjt.3_5'UTR NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 188 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CCAGAAATACAGCAGCCACTT 0.388 NA 7 43 0 0 0.001984 0 0 AASS 10157 broad.mit.edu 37 7 121755132 121755132 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:121755132G>T uc003vka.2 - 8 1135 c.1039C>A c.(1039-1041)CAC>AAC p.H347N AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.H347N|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 347 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CCTTACTTGTGTGGTAATGCA 0.468 NA 16 50 3.41278e-10 4.76484e-10 0.00499 1 0 PAX4 5078 broad.mit.edu 37 7 127253908 127253908 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:127253908G>A uc010lld.1 - 4 646 c.440C>T c.(439-441)CCC>CTC p.P147L PAX4_uc003vmf.2_Missense_Mutation_p.P145L|PAX4_uc003vmg.1_Missense_Mutation_p.P147L|PAX4_uc003vmh.2_Missense_Mutation_p.P145L NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 155 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCACTATGGGGAGTGAGGAC 0.562 Ovarian(113;737 1605 7858 27720 34092) NA 7 63 0 0 0.001984 0 0 METTL2B 55798 broad.mit.edu 37 7 128116825 128116825 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:128116825C>T uc003vnf.2 + 1 43 c.6C>T c.(4-6)GCC>GCT p.A2A METTL2B_uc003vng.2_5'UTR|METTL2B_uc011kop.1_5'Flank NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 2 methyltransferase activity skin(1) 1 GTGTCATGGCCGGCTCCTACC 0.602 NA OREG0018295 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 10 0 0 0.00278 0 0 CPA1 1357 broad.mit.edu 37 7 130025175 130025175 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:130025175C>A uc003vpx.2 + 8 1048 c.976C>A c.(976-978)CAG>AAG p.Q326K CPA1_uc003vpw.2_Missense_Mutation_p.Q160K NM_001868 NP_001859 P15085 CBPA1_HUMAN carboxypeptidase A1 precursor 326 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) AGTCCCTGACCAGGATGAGCT 0.572 NA 54 36 8.52529e-16 1.39406e-15 0.00361 1 0 PLXNA4 91584 broad.mit.edu 37 7 131830040 131830040 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:131830040A>C uc003vra.3 - 29 5292 c.5063T>G c.(5062-5064)CTG>CGG p.L1688R PLXNA4_uc003vqz.3_5'UTR NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1688 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 AAACTTCTGCAGTGTGCCCTG 0.547 NA 7 33 0 0 0.00308 0 0 PLXNA4 91584 broad.mit.edu 37 7 131913111 131913111 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:131913111G>T uc003vra.3 - 6 1951 c.1722C>A c.(1720-1722)AAC>AAA p.N574K NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 574 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TTACCAGCACGTTGTACTGAG 0.592 NA 11 40 0.000978159 0.00106576 0.000978 1 0 NUP205 23165 broad.mit.edu 37 7 135310997 135310997 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:135310997A>T uc003vsw.2 + 33 4712 c.4681A>T c.(4681-4683)ACA>TCA p.T1561S NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1561 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GGCATTTCTCACAAGAGTGGC 0.448 NA 5 111 0 0 0.001168 0 0 CHRM2 1129 broad.mit.edu 37 7 136700192 136700192 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:136700192G>T uc003vtf.1 + 4 1203 c.580G>T c.(580-582)GCC>TCC p.A194S CHRM2_uc003vtg.1_Missense_Mutation_p.A194S|CHRM2_uc003vtj.1_Missense_Mutation_p.A194S|CHRM2_uc003vtk.1_Missense_Mutation_p.A194S|CHRM2_uc003vtl.1_Missense_Mutation_p.A194S|CHRM2_uc003vtm.1_Missense_Mutation_p.A194S|CHRM2_uc003vti.1_Missense_Mutation_p.A194S|CHRM2_uc003vto.1_Missense_Mutation_p.A194S|CHRM2_uc003vtn.1_Missense_Mutation_p.A194S|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 194 Helical; Name=5; (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GGCTATTGCAGCCTTCTATTT 0.478 NA 27 38 2.08973e-25 3.80018e-25 0.005443 1 0 DGKI 9162 broad.mit.edu 37 7 137363342 137363342 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:137363342G>T uc003vtt.2 - 3 568 c.567C>A c.(565-567)CTC>CTA p.L189L DGKI_uc003vtu.2_Translation_Start_Site NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 189 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CAAGGTAGCAGAGGTCTCCCG 0.522 NA 47 164 6.81593e-30 1.26194e-29 0.00361 1 0 CREB3L2 64764 broad.mit.edu 37 7 137612987 137612987 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:137612987G>A uc003vtw.2 - 2 623 c.228C>T c.(226-228)CTC>CTT p.L76L CREB3L2_uc003vtx.1_Silent_p.L76L|CREB3L2_uc003vty.3_Silent_p.L76L|CREB3L2_uc003vtv.2_Silent_p.L13L NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 76 Cytoplasmic (Potential). chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1) 160 CAGCCTGGATGAGAGGCGCCG 0.572 NA T FUS fibromyxoid sarcoma 5 12 0 0 0.000602 0 0 PRSS37 136242 broad.mit.edu 37 7 141536247 141536247 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:141536247G>T uc003vws.1 - 5 1028 c.656C>A c.(655-657)ACC>AAC p.T219N PRSS37_uc011krk.1_Missense_Mutation_p.T206N|PRSS37_uc011krl.1_Missense_Mutation_p.T218N|PRSS37_uc003vwt.1_Missense_Mutation_p.T206N NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN protease, serine, 37 precursor 219 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity skin(1) 1 GTAAACATTGGTGTAGATGCC 0.517 NA 21 43 2.21704e-12 3.33698e-12 0.00278 1 0 MGAM 8972 broad.mit.edu 37 7 141750516 141750516 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:141750516T>C uc003vwy.2 + 24 2711 c.2657T>C c.(2656-2658)ATT>ACT p.I886T NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 886 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) GAGGTGAATATTTCACAATCA 0.363 NA 19 30 0 0 0.010504 0 0 OR2A12 346525 broad.mit.edu 37 7 143793025 143793025 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:143793025G>T uc011kty.1 + 1 825 c.825G>T c.(823-825)CTG>CTT p.L275L NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) TCCTTTCCCTGTTTTACAGCC 0.512 NA 10 352 1.58986e-06 1.93433e-06 0.008291 1 0 ARHGEF5 7984 broad.mit.edu 37 7 144070359 144070359 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:144070359G>C uc003wel.2 + 10 4240 c.4122G>C c.(4120-4122)AAG>AAC p.K1374N ARHGEF5_uc003wek.2_Missense_Mutation_p.K1374N|ARHGEF5_uc003wem.2_Missense_Mutation_p.K229N NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 1374 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) TGAGCCAGAAGATTGAGTTTG 0.532 NA 24 60 0 0 0.009535 0 0 TPK1 27010 broad.mit.edu 37 7 144320281 144320281 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:144320281T>A uc003weq.2 - 6 435 c.332A>T c.(331-333)AAG>ATG p.K111M TPK1_uc003weo.2_Missense_Mutation_p.K106M|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.K111M|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 111 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) TTCTTCTATCTTCTTTTGGAG 0.323 Ovarian(45;88 1034 2073 5829 28455) NA 31 115 0 0 0.008361 0 0 EZH2 2146 broad.mit.edu 37 7 148508784 148508784 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:148508784G>T uc003wfd.1 - 16 2031 c.1865C>A c.(1864-1866)GCA>GAA p.A622E EZH2_uc011kug.1_Missense_Mutation_p.A571E|EZH2_uc003wfb.1_Missense_Mutation_p.A627E|EZH2_uc003wfc.1_Missense_Mutation_p.A583E|EZH2_uc011kuh.1_Missense_Mutation_p.A613E NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 622 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) CCCCCAGCCTGCCACGTCAGA 0.428 NA Mis DLBCL 10 38 0.00621372 0.00657393 0.006214 1 0 ZNF398 57541 broad.mit.edu 37 7 148851299 148851299 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:148851299G>T uc003wfl.2 + 2 562 c.287G>T c.(286-288)TGG>TTG p.W96L ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.W101L NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 96 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GAGGGCAAGTGGGCCGTGCTG 0.597 NA 24 52 1.66031e-10 2.34693e-10 0.003954 1 0 ABP1 26 broad.mit.edu 37 7 150553925 150553925 + Missense_Mutation SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:150553925T>G uc003why.1 + 3 4585 c.367T>G c.(367-369)TGC>GGC p.C123G ABP1_uc003whz.1_Missense_Mutation_p.C123G|ABP1_uc003wia.1_Missense_Mutation_p.C123G NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 123 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GCCAGGGCCCTGCTACATGCG 0.622 Pancreas(195;1227 3054 24912 28503) NA 4 84 0 0 0.000602 0 0 RHEB 6009 broad.mit.edu 37 7 151174501 151174502 + Splice_Site DNP CC CC GA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:151174501_151174502CC>GA uc003wkh.1 - 4 606 c.193_splice c.e4-1 p.D65_splice NM_005614 NP_005605 Q15382 RHEB_HUMAN Ras homolog enriched in brain precursor cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding large_intestine(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) GAATATTCATCCTGTGGGGAAA 0.332 Pancreas(98;671 892 8111 15140 36556 39178 39939 44184) NA 29 89 0 0 0.004672 0 0 DPP6 1804 broad.mit.edu 37 7 154143394 154143394 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:154143394G>T uc003wlk.2 + 2 468 c.339G>T c.(337-339)TCG>TCT p.S113S DPP6_uc003wli.2_Silent_p.S49S|DPP6_uc003wlj.2_Silent_p.S113S|DPP6_uc010lqh.1_Silent_p.S51S|DPP6_uc003wlm.2_Silent_p.S51S|DPP6_uc011kvq.1_Silent_p.S51S NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 113 Helical; Signal-anchor for type II membrane protein; (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) TCGTCACCTCGGTCATACTTC 0.433 NSCLC(125;1384 1783 2490 7422 34254) NA 23 57 1.64293e-13 2.55567e-13 0.00333 1 0 DPP6 1804 broad.mit.edu 37 7 154684101 154684101 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:154684101C>A uc003wlk.2 + 26 2638 c.2509C>A c.(2509-2511)CGG>AGG p.R837R DPP6_uc003wli.2_Silent_p.R773R|DPP6_uc003wlm.2_Silent_p.R775R|DPP6_uc011kvq.1_Silent_p.R730R NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 837 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) GCATCTGTACCGGTCCATCAT 0.512 NSCLC(125;1384 1783 2490 7422 34254) NA 18 53 5.03518e-11 7.25805e-11 0.007413 1 0 RBM33 155435 broad.mit.edu 37 7 155504087 155504087 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:155504087A>G uc010lqk.1 + 8 1507 c.1139A>G c.(1138-1140)CAG>CGG p.Q380R RBM33_uc011kvv.1_Missense_Mutation_p.Q189R NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 380 Pro-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GTGACTCCACAGCAGCCCAAG 0.542 NA 13 23 0 0 0.001368 0 0 CSMD1 64478 broad.mit.edu 37 8 3443692 3443692 + Silent SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:3443692G>C uc011kwk.1 - 9 1581 c.1191C>G c.(1189-1191)CTC>CTG p.L397L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 397 Extracellular (Potential).|Sushi 2. 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) TCCAAGCAGCGAGCGTCTCTG 0.478 NA 6 8 0 0 0.001984 0 0 CSMD1 64478 broad.mit.edu 37 8 3565937 3565937 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:3565937G>T uc011kwk.1 - 7 1398 c.1008C>A c.(1006-1008)GTC>GTA p.V336V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 336 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) GGGACTCACAGACAGAGTTTT 0.478 NA 7 36 1.26484e-09 1.72127e-09 0.00308 1 0 RP1L1 94137 broad.mit.edu 37 8 10465982 10465982 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:10465982C>A uc003wtc.2 - 4 5855 c.5626G>T c.(5626-5628)GCC>TCC p.A1876S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1876 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCCTCTGGGGCCTCTACATCT 0.622 NA 57 163 1.3268e-25 2.4171e-25 0.00361 1 0 RP1L1 94137 broad.mit.edu 37 8 10467184 10467184 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:10467184G>A uc003wtc.2 - 4 4653 c.4424C>T c.(4423-4425)CCT>CTT p.P1475L NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1475 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TTCCAAACCAGGCTCAAGCTG 0.657 NA 10 63 0 0 0.001368 0 0 RP1L1 94137 broad.mit.edu 37 8 10468596 10468597 + Missense_Mutation DNP CC CC AA TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:10468596_10468597CC>AA uc003wtc.2 - 4 3240_3241 c.3011_3012GG>TT c.(3010-3012)GGG>GTT p.G1004V NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1004 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GAGCTGGCTCCCCCAGGCCTTC 0.658 NA 21 38 0 0 0.004672 0 0 DEFB136 613210 broad.mit.edu 37 8 11832107 11832107 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:11832107A>T uc011kxm.1 - 1 2 c.2T>A c.(1-3)ATG>AAG p.M1K NM_001033018 NP_001028190 Q30KP8 DB136_HUMAN beta-defensin 136 precursor 1 defense response to bacterium extracellular region 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) ACAGAGGTTCATGGCCGAAGA 0.542 NA 37 97 0 0 0.003271 0 0 MTMR7 9108 broad.mit.edu 37 8 17157479 17157479 + Silent SNP G G C rs146319076 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:17157479G>C uc003wxm.2 - 14 2114 c.1875C>G c.(1873-1875)TCC>TCG p.S625S MTMR7_uc011kya.1_Silent_p.S259S|MTMR7_uc011kyb.1_Silent_p.S216S NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 625 protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) CCTCCACCCCGGACTCTTGGT 0.512 NA 9 29 0 0 0.008291 0 0 SH2D4A 63898 broad.mit.edu 37 8 19221651 19221651 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:19221651A>T uc003wzb.2 + 7 1111 c.775A>T c.(775-777)AGG>TGG p.R259W SH2D4A_uc011kym.1_Missense_Mutation_p.R214W|SH2D4A_uc003wzc.2_Missense_Mutation_p.R259W NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 259 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) AGACTACAAGAGGTTATCCCT 0.547 NA 10 35 0 0 0.006214 0 0 WRN 7486 broad.mit.edu 37 8 30921859 30921859 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:30921859A>T uc003xio.3 + 4 1052 c.264A>T c.(262-264)TTA>TTT p.L88F NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 88 Interaction with WRNIP1 (By similarity).|3'-5' exonuclease. L->A: No effect on exonuclease activity. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GGCCACCATTATACAATAGAG 0.353 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 37 112 0 0 0.00874 0 0 ADAM2 2515 broad.mit.edu 37 8 39607214 39607214 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:39607214C>A uc003xnj.2 - 17 1922 c.1847G>T c.(1846-1848)TGT>TTT p.C616F ADAM2_uc003xnk.2_Missense_Mutation_p.C597F|ADAM2_uc011lck.1_Missense_Mutation_p.C553F|ADAM2_uc003xnl.2_Missense_Mutation_p.C460F NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 616 Extracellular (Potential).|EGF-like. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GTCAGTAGTACAATCATAACC 0.348 NA 11 33 2.68362e-12 4.01561e-12 0.001368 1 0 AP3M2 10947 broad.mit.edu 37 8 42012412 42012412 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:42012412G>T uc003xop.2 + 3 498 c.207G>T c.(205-207)GTG>GTT p.V69V AP3M2_uc003xoo.2_Silent_p.V69V|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Silent_p.V69V NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 69 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) TTGTGGCCGTGATCCAGACGG 0.473 NA 9 46 0.000274275 0.00030271 0.004482 1 0 MCM4 4173 broad.mit.edu 37 8 48878870 48878870 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:48878870G>T uc003xqk.1 + 9 1051 c.956G>T c.(955-957)CGC>CTC p.R319L MCM4_uc003xql.1_Missense_Mutation_p.R319L|MCM4_uc011ldi.1_Missense_Mutation_p.R306L NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 319 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GAGATGGACCGCGGCCGCATT 0.622 NA 7 28 1.6384e-10 2.32239e-10 0.001984 1 0 SNAI2 6591 broad.mit.edu 37 8 49832627 49832627 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:49832627G>C uc003xqp.2 - 2 617 c.453C>G c.(451-453)TGC>TGG p.C151W NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 151 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) ACTGGGCATCGCAGTGCAGCT 0.453 NA 11 90 0 0 0.001368 0 0 PXDNL 137902 broad.mit.edu 37 8 52370125 52370125 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:52370125G>T uc003xqu.3 - 9 1016 c.915C>A c.(913-915)TGC>TGA p.C305* NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 305 Ig-like C2-type 1. 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) TTCTGGCCATGCACTGATAGA 0.428 NA 19 86 8.28177e-16 1.35641e-15 0.007413 1 0 RP1 6101 broad.mit.edu 37 8 55534687 55534687 + Missense_Mutation SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:55534687T>G uc003xsd.1 + 3 774 c.626T>G c.(625-627)CTC>CGC p.L209R RP1_uc011ldy.1_Missense_Mutation_p.L209R NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 209 Doublecortin 2. 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) GTTCCCAGCCTCCAGGCAGTG 0.428 Colon(91;1014 1389 7634 14542 40420) NA 8 31 0 0 0.006214 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66963823 66963823 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:66963823C>A uc003xvs.1 + 3 332 c.41C>A c.(40-42)TCA>TAA p.S14* DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 14 protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CGGACTCTGTCAACAACAGGA 0.403 NA 31 101 6.38683e-12 9.45992e-12 0.008361 1 0 CSPP1 79848 broad.mit.edu 37 8 68024301 68024301 + Splice_Site SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:68024301G>T uc003xxi.2 + 11 1350 c.1319_splice c.e11+1 p.R440_splice CSPP1_uc003xxg.1_Splice_Site_p.R432_splice|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Splice_Site_p.R405_splice|CSPP1_uc003xxk.2_Splice_Site_p.R111_splice NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) ACAAGAGACGGTAATGAAAGG 0.353 NA 19 45 7.45023e-12 1.10031e-11 0.010504 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768313 77768313 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:77768313G>T uc003yav.2 + 10 9408 c.9021G>T c.(9019-9021)CCG>CCT p.P3007P ZFHX4_uc003yau.1_Silent_p.P3052P|ZFHX4_uc003yaw.1_Silent_p.P3007P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3007 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTTGGCTCCGACCACGGTTC 0.507 NA HNSCC(33;0.089) 17 83 1.00905e-13 1.58167e-13 0.008871 1 0 ZFAND1 79752 broad.mit.edu 37 8 82627319 82627319 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:82627319C>A uc003ycj.1 - 4 183 c.169G>T c.(169-171)GAT>TAT p.D57Y ZFAND1_uc010lzx.1_Missense_Mutation_p.D57Y|ZFAND1_uc003yck.1_5'UTR NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 57 AN1-type 1. zinc ion binding ovary(1) 1 GTATGTTGATCTGTCTTCAGT 0.368 NA 10 40 6.40141e-05 7.26916e-05 0.000978 1 0 CA3 761 broad.mit.edu 37 8 86356318 86356318 + Missense_Mutation SNP A A C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:86356318A>C uc003ydj.2 + 4 490 c.407A>C c.(406-408)CAG>CCG p.Q136P CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 136 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 GCCCTGAAGCAGCGCGATGGG 0.378 NA 8 45 0 0 0.00308 0 0 NECAB1 64168 broad.mit.edu 37 8 91963412 91963412 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:91963412C>T uc011lgg.1 + 12 1204 c.1010C>T c.(1009-1011)ACA>ATA p.T337I NECAB1_uc003yer.2_Missense_Mutation_p.T86I NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 337 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) CCAGAACTCACATCTACAATG 0.343 NA 6 29 0 0 0.00308 0 0 CDH17 1015 broad.mit.edu 37 8 95158253 95158253 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:95158253A>G uc003ygh.2 - 15 2195 c.2070T>C c.(2068-2070)GCT>GCC p.A690A CDH17_uc011lgo.1_Silent_p.A476A|CDH17_uc011lgp.1_Silent_p.A690A NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 690 Cadherin 7.|Extracellular (Potential). integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CATCATCAGTAGCCTCGAAAA 0.483 NA 12 53 0 0 0.001368 0 0 C8orf37 157657 broad.mit.edu 37 8 96259924 96259924 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:96259924T>A uc003yho.1 - 6 565 c.545A>T c.(544-546)CAG>CTG p.Q182L NM_177965 NP_808880 Q96NL8 CH037_HUMAN hypothetical protein LOC157657 182 0 Breast(36;3.41e-05) CCAGCTACACTGGCAGGCATA 0.403 NA 9 49 0 0 0.004482 0 0 GDF6 392255 broad.mit.edu 37 8 97156857 97156857 + Missense_Mutation SNP G G T rs138730867 by1000genomes TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:97156857G>T uc003yhp.2 - 2 1402 c.1302C>A c.(1300-1302)GAC>GAA p.D434E NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 434 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) TATTGCCCGCGTCGATGTATA 0.602 NA 9 23 1.58986e-06 1.93433e-06 0.008291 1 0 UBR5 51366 broad.mit.edu 37 8 103359295 103359295 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:103359295C>A uc003ykr.1 - 6 445 c.412G>T c.(412-414)GGA>TGA p.G138* UBR5_uc003yks.1_Nonsense_Mutation_p.G138* NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 138 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCACCACTTCCACCCACTCCA 0.453 Ovarian(131;96 1741 5634 7352 27489) NA 60 87 4.49795e-14 7.12698e-14 0.00361 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110408305 110408305 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:110408305G>T uc003yne.2 + 11 965 c.861G>T c.(859-861)ACG>ACT p.T287T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 287 Extracellular (Potential).|IPT/TIG 3. 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) GTGGCACCACGCTGACAATAA 0.393 NA HNSCC(38;0.096) 4 17 5.9392e-07 7.33962e-07 0.001168 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110453508 110453508 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:110453508C>A uc003yne.2 + 34 4208 c.4104C>A c.(4102-4104)TCC>TCA p.S1368S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1368 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) TTCTAGGGTCCATCCCTTGCA 0.303 NA HNSCC(38;0.096) 3 11 0.00024832 0.000275552 0.009096 1 0 CSMD3 114788 broad.mit.edu 37 8 113326281 113326281 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:113326281C>A uc003ynu.2 - 49 7709 c.7550G>T c.(7549-7551)GGA>GTA p.G2517V CSMD3_uc003yns.2_Missense_Mutation_p.G1719V|CSMD3_uc003ynt.2_Missense_Mutation_p.G2477V|CSMD3_uc011lhx.1_Missense_Mutation_p.G2413V|CSMD3_uc003ynw.1_Missense_Mutation_p.G228V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2517 CUB 14.|Extracellular (Potential). 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 AATATTTGGTCCTTTGGGAAG 0.284 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 15 0.000673444 0.000736895 0.008291 1 0 CSMD3 114788 broad.mit.edu 37 8 113516078 113516078 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:113516078T>A uc003ynu.2 - 30 5183 c.5024A>T c.(5023-5025)CAT>CTT p.H1675L CSMD3_uc003yns.2_Missense_Mutation_p.H947L|CSMD3_uc003ynt.2_Missense_Mutation_p.H1635L|CSMD3_uc011lhx.1_Missense_Mutation_p.H1571L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1675 Extracellular (Potential).|CUB 9. 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 AAAAGCCAAATGCATTGTATT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 74 0 0 0.008291 0 0 CSMD3 114788 broad.mit.edu 37 8 113563004 113563004 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:113563004C>A uc003ynu.2 - 27 4619 c.4460G>T c.(4459-4461)GGA>GTA p.G1487V CSMD3_uc003yns.2_Missense_Mutation_p.G759V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1447V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1383V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1487 Extracellular (Potential).|CUB 8. 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 AATAAGAGATCCACTAATTTC 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 35 1.74807e-11 2.54854e-11 0.002096 1 0 TRPS1 7227 broad.mit.edu 37 8 116599310 116599310 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:116599310C>A uc003ynz.2 - 4 3038 c.2579G>T c.(2578-2580)GGA>GTA p.G860V TRPS1_uc011lhy.1_Missense_Mutation_p.G864V|TRPS1_uc003yny.2_Missense_Mutation_p.G873V|TRPS1_uc010mcy.2_Missense_Mutation_p.G860V NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 860 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGACTTCTCTCCGCCAGCTGG 0.567 NA Langer-Giedion_syndrome 10 64 2.17888e-05 2.54784e-05 0.006214 1 0 COLEC10 10584 broad.mit.edu 37 8 120118127 120118127 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:120118127G>A uc003yoo.2 + 6 628 c.531G>A c.(529-531)AGG>AGA p.R177R NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 precursor 177 C-type lectin. collagen|cytoplasm mannose binding ovary(2)|skin(1) 3 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) CCCACTGCAGGATTCGGGGTG 0.507 NA 28 31 0 0 0.003271 0 0 ZNF572 137209 broad.mit.edu 37 8 125989981 125989981 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:125989981G>T uc003yrr.2 + 3 1626 c.1471G>T c.(1471-1473)GTA>TTA p.V491L NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GAAAATTCACGTAGAAAAGCC 0.468 NA HNSCC(60;0.17) 72 74 1.2647e-45 2.42046e-45 0.00361 1 0 COL22A1 169044 broad.mit.edu 37 8 139606332 139606332 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:139606332C>A uc003yvd.2 - 63 4990 c.4543G>T c.(4543-4545)GGC>TGC p.G1515C COL22A1_uc011ljo.1_Missense_Mutation_p.G795C NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1515 Pro-rich.|Gly-rich.|Collagen-like 15. 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) CCCATGGGGCCGGCCCGGCCT 0.652 NA HNSCC(7;0.00092) 11 66 3.86212e-05 4.42498e-05 0.008291 1 0 COL22A1 169044 broad.mit.edu 37 8 139833475 139833475 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:139833475C>A uc003yvd.2 - 7 1596 c.1149G>T c.(1147-1149)GCG>GCT p.A383A NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 383 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) TCTGCACCAGCGCACAGTCAA 0.567 NA HNSCC(7;0.00092) 9 51 7.48243e-07 9.20222e-07 0.006214 1 0 DENND3 22898 broad.mit.edu 37 8 142176321 142176321 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:142176321C>T uc003yvy.2 + 12 1624 c.1346C>T c.(1345-1347)CCG>CTG p.P449L DENND3_uc010mep.2_Missense_Mutation_p.P410L|DENND3_uc003yvz.1_Missense_Mutation_p.P133L NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 449 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCAAGGAGACCGACCGTTGAG 0.483 NA 37 232 0 0 0.005524 0 0 PLEC 5339 broad.mit.edu 37 8 144997654 144997654 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:144997654C>T uc003zaf.1 - 31 7024 c.6854G>A c.(6853-6855)CGG>CAG p.R2285Q PLEC_uc003zab.1_Missense_Mutation_p.R2148Q|PLEC_uc003zac.1_Missense_Mutation_p.R2152Q|PLEC_uc003zad.2_Missense_Mutation_p.R2148Q|PLEC_uc003zae.1_Missense_Mutation_p.R2116Q|PLEC_uc003zag.1_Missense_Mutation_p.R2126Q|PLEC_uc003zah.2_Missense_Mutation_p.R2134Q|PLEC_uc003zaj.2_Missense_Mutation_p.R2175Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2285 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CTGTGCCCGCCGCGCCGCCTC 0.687 NA 6 6 0 0 0.004482 0 0 OPLAH 26873 broad.mit.edu 37 8 145113227 145113227 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr8:145113227C>G uc003zar.3 - 7 946 c.864G>C c.(862-864)TCG>TCC p.S288S OPLAH_uc003zat.1_Silent_p.S66S NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 288 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CGGCCGGGCCCGAGAGCACAG 0.682 NA 7 6 0 0 0.00308 0 0 DMRT3 58524 broad.mit.edu 37 9 977258 977258 + Missense_Mutation SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:977258T>G uc003zgw.1 + 1 295 c.257T>G c.(256-258)CTC>CGC p.L86R NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 86 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TTGGAGAGCCTCATCCCCGAC 0.443 NA 7 13 0 0 0.00308 0 0 SMARCA2 6595 broad.mit.edu 37 9 2054677 2054677 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:2054677C>T uc003zhc.2 + 6 1226 c.1127C>T c.(1126-1128)GCA>GTA p.A376V SMARCA2_uc003zhd.2_Missense_Mutation_p.A376V|SMARCA2_uc010mha.2_Missense_Mutation_p.A367V NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 376 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AGAACCAAAGCAACCGTGGAA 0.408 NA 25 48 0 0 0.005443 0 0 SH3GL2 6456 broad.mit.edu 37 9 17789527 17789527 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:17789527G>T uc003zna.2 + 6 891 c.603G>T c.(601-603)ATG>ATT p.M201I SH3GL2_uc011lmx.1_Missense_Mutation_p.M166I|SH3GL2_uc011lmy.1_Missense_Mutation_p.M154I NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 201 BAR.|Potential. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AGTCAAGCATGTTCAATCTCT 0.373 NA 27 31 1.77063e-15 2.88151e-15 0.005443 1 0 TAF1L 138474 broad.mit.edu 37 9 32634278 32634278 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:32634278T>C uc003zrg.1 - 1 1390 c.1300A>G c.(1300-1302)ATC>GTC p.I434V uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 434 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCATCCCAGATGATAGAATCC 0.468 NA 40 153 0 0 0.006999 0 0 SMU1 55234 broad.mit.edu 37 9 33071822 33071822 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:33071822G>A uc003zsf.1 - 3 414 c.306C>T c.(304-306)CCC>CCT p.P102P SMU1_uc010mjo.1_Silent_p.P102P|SMU1_uc010mjp.1_Silent_p.P102P|SMU1_uc011lnu.1_Intron NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog 102 cytoplasm|nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) ACATGATCATGGGATCAGTCT 0.418 NA 50 42 0 0 0.00361 0 0 NPR2 4882 broad.mit.edu 37 9 35792526 35792526 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:35792526G>A uc003zyd.2 + 1 121 c.121G>A c.(121-123)GCC>ACC p.A41T NPR2_uc010mlb.2_Missense_Mutation_p.A41T NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 41 Extracellular (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CTATGCCTGGGCCTGGCCACG 0.697 NA 10 9 0 0 0.000978 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627176 43627176 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:43627176G>T uc011lrb.1 - 4 1540 c.1511C>A c.(1510-1512)CCA>CAA p.P504Q NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 504 integral to membrane 0 AGATAGGACTGGGAAAGAAGA 0.532 NA 136 217 1.2273e-65 2.36661e-65 0.00361 1 0 RORB 6096 broad.mit.edu 37 9 77282816 77282816 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:77282816A>G uc004aji.2 + 8 1192 c.1143A>G c.(1141-1143)CCA>CCG p.P381P RORB_uc004ajh.2_Silent_p.P370P NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 381 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 TGATATCTCCAGGTAGGGCAG 0.403 NA 5 80 0 0 0.001984 0 0 FLJ46321 389763 broad.mit.edu 37 9 84609573 84609573 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:84609573T>A uc004amn.2 + 4 4235 c.4188T>A c.(4186-4188)TTT>TTA p.F1396L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1396 integral to membrane 0 GAGCTGCCTTTACTGGGACTA 0.453 NA 7 8 0 0 0.00308 0 0 ECM2 1842 broad.mit.edu 37 9 95263280 95263280 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:95263280G>T uc004ash.2 - 9 1725 c.1660C>A c.(1660-1662)CTA>ATA p.L554I CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.L532I|ECM2_uc011lty.1_Missense_Mutation_p.L554I|ECM2_uc004asg.2_Missense_Mutation_p.L532I|ECM2_uc010mqz.1_5'UTR NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 554 LRR 8. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 GACTTGGGTAGATAGGACGGG 0.473 NA 33 37 4.74835e-14 7.5121e-14 0.002096 1 0 COL15A1 1306 broad.mit.edu 37 9 101788185 101788185 + Splice_Site SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:101788185G>A uc004azb.1 + 16 2187 c.1981_splice c.e16-1 p.G661_splice NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) ATGTTCCCCAGGGCCCTGAGG 0.577 NA 6 8 0 0 0.001984 0 0 SMC2 10592 broad.mit.edu 37 9 106901507 106901507 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:106901507G>T uc004bbv.2 + 25 3793 c.3505G>T c.(3505-3507)GCC>TCC p.A1169S SMC2_uc004bbw.2_Missense_Mutation_p.A1169S|SMC2_uc011lvl.1_Missense_Mutation_p.A1169S|SMC2_uc004bbx.2_Missense_Mutation_p.A1169S|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 1169 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 TTCTACAGTAGCCAGATTTAC 0.358 NA 20 25 5.03518e-11 7.25805e-11 0.007413 1 0 OR13F1 138805 broad.mit.edu 37 9 107267268 107267269 + Missense_Mutation DNP CA CA TG TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:107267268_107267269CA>TG uc011lvm.1 + 1 725_726 c.725_726CA>TG c.(724-726)ACA>ATG p.T242M NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 TCAACGTGCACAGCCCACCTGA 0.46 NA 39 58 0 0 0.004672 0 0 OR13C8 138802 broad.mit.edu 37 9 107331656 107331656 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:107331656G>T uc011lvo.1 + 1 208 c.208G>T c.(208-210)GAC>TAC p.D70Y NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCCTTCCTCGACGTTTGCTA 0.428 NA 48 140 4.18559e-23 7.53111e-23 0.00361 1 0 OR13C8 138802 broad.mit.edu 37 9 107331807 107331807 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:107331807T>A uc011lvo.1 + 1 359 c.359T>A c.(358-360)CTG>CAG p.L120Q NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACGATGGCACTGGACCGCTAT 0.527 NA 20 25 0 0 0.008871 0 0 RGS3 5998 broad.mit.edu 37 9 116279846 116279846 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:116279846G>A uc004bhq.2 + 17 1909 c.1700G>A c.(1699-1701)CGG>CAG p.R567Q RGS3_uc004bhr.2_Missense_Mutation_p.R455Q|RGS3_uc004bhs.2_Missense_Mutation_p.R457Q|RGS3_uc004bht.2_Missense_Mutation_p.R286Q|RGS3_uc010muy.2_Missense_Mutation_p.R286Q|RGS3_uc004bhu.2_Missense_Mutation_p.R193Q NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 567 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 AATCCTGCCCGGACCCTCCTG 0.557 NA 3 47 0 0 0.009096 0 0 ASTN2 23245 broad.mit.edu 37 9 119488128 119488128 + Missense_Mutation SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:119488128A>G uc004bjs.1 - 16 2829 c.2728T>C c.(2728-2730)TAT>CAT p.Y910H ASTN2_uc004bjr.1_Missense_Mutation_p.Y906H|ASTN2_uc004bjt.1_Missense_Mutation_p.Y859H NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 910 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TCTGAGCCATAGAGGGCCTCT 0.547 NA 16 109 0 0 0.004007 0 0 ASTN2 23245 broad.mit.edu 37 9 119625959 119625959 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:119625959G>C uc004bjs.1 - 11 2044 c.1943C>G c.(1942-1944)TCC>TGC p.S648C ASTN2_uc004bjr.1_Missense_Mutation_p.S644C|ASTN2_uc004bjt.1_Missense_Mutation_p.S597C NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 648 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TGGCCCGAAGGAAGACAGCAG 0.522 NA 17 15 0 0 0.00499 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377093 125377093 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:125377093C>T uc011lyy.1 + 1 77 c.77C>T c.(76-78)CCA>CTA p.P26L NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAGCAAATCCCACTCTTCCTT 0.468 NA 45 59 0 0 0.00361 0 0 FPGS 2356 broad.mit.edu 37 9 130569352 130569352 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:130569352C>A uc004bsg.1 + 5 537 c.487C>A c.(487-489)CTG>ATG p.L163M FPGS_uc004bsh.1_Translation_Start_Site|FPGS_uc011mal.1_Missense_Mutation_p.L163M|FPGS_uc004bsi.1_Missense_Mutation_p.L113M NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 163 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) CTACCACCGGCTGGAGGAGAC 0.637 NA 8 56 0.00307968 0.00329919 0.00308 1 0 NAIF1 203245 broad.mit.edu 37 9 130825873 130825873 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:130825873T>A uc004bta.2 - 2 1037 c.818A>T c.(817-819)CAG>CTG p.Q273L NAIF1_uc004bsz.2_RNA NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 273 apoptosis|induction of apoptosis nucleus 0 CTCCATGGCCTGGGCCTGGCG 0.617 NA 22 30 0 0 0.00278 0 0 WDR34 89891 broad.mit.edu 37 9 131398630 131398630 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:131398630C>T uc004bvq.1 - 4 757 c.633G>A c.(631-633)TCG>TCA p.S211S WDR34_uc004bvs.1_Silent_p.S202S|WDR34_uc004bvr.1_Silent_p.S211S|WDR34_uc011mbi.1_Silent_p.S94S NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 211 cytoplasm central_nervous_system(2)|skin(1) 3 CCACCACGGCCGACGGCTGCT 0.677 NA 4 9 0 0 0.009096 0 0 TSC1 7248 broad.mit.edu 37 9 135797337 135797337 + Missense_Mutation SNP C C G rs118203395 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:135797337C>G uc004cca.2 - 7 766 c.532G>C c.(532-534)GTC>CTC p.V178L TSC1_uc004ccb.3_Missense_Mutation_p.V178L|TSC1_uc011mcq.1_Missense_Mutation_p.V127L|TSC1_uc011mcr.1_Missense_Mutation_p.V57L|TSC1_uc011mcs.1_Missense_Mutation_p.V57L|TSC1_uc004ccc.1_Missense_Mutation_p.V178L|TSC1_uc004ccd.2_Missense_Mutation_p.V178L|TSC1_uc004cce.1_Missense_Mutation_p.V178L NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 178 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TGGAGATGGACGAGATAGACT 0.463 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 32 34 0 0 0.002096 0 0 GFI1B 8328 broad.mit.edu 37 9 135864468 135864468 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:135864468G>T uc004ccg.2 + 5 682 c.531G>T c.(529-531)GGG>GGT p.G177G GFI1B_uc010mzy.2_Intron NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 177 C2H2-type 1.|Mediates interaction with GATA1.|Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CCCCTCACGGGCTCGAAGTGC 0.652 NA 7 17 8.12818e-05 9.14868e-05 0.001984 1 0 ABO 28 broad.mit.edu 37 9 136131636 136131636 + Missense_Mutation SNP C C T rs8176738 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:136131636C>T uc004cda.1 - 8 507 c.482G>A c.(481-483)CGC>CAC p.R161H ABO_uc010naf.1_Missense_Mutation_p.R20H|ABO_uc011mcz.1_Missense_Mutation_p.R20H|ABO_uc010nag.1_Missense_Mutation_p.R20H NM_020469 NP_065202 P16442 BGAT_HUMAN ABO blood group (alpha 161 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) CAGCGTCACGCGGGGCACCGC 0.647 NA 5 16 0 0 0.000602 0 0 SLC34A3 142680 broad.mit.edu 37 9 140126579 140126579 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr9:140126579C>A uc004cmf.1 + 3 327 c.141C>A c.(139-141)CTC>CTA p.L47L SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Silent_p.L47L|SLC34A3_uc011met.1_Silent_p.L47L NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 47 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CCTGGACCCTCCCTCAGCTGA 0.627 NA 40 54 4.67007e-22 8.24319e-22 0.00874 1 0 PPP2R3B 28227 broad.mit.edu 37 X 347161 347161 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:347161G>C uc004cpg.2 - 1 467 c.266C>G c.(265-267)TCC>TGC p.S89C PPP2R3B_uc011mha.1_5'UTR NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', 89 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTGGGGCTGGAGGCGGCGCC 0.731 NA 8 12 0 0 0.006214 0 0 ASMT 438 broad.mit.edu 37 X 1743279 1743279 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:1743279C>T uc004cqd.2 + 4 507 c.362C>T c.(361-363)GCA>GTA p.A121V ASMT_uc010ncy.2_Missense_Mutation_p.A121V|ASMT_uc004cqe.2_Missense_Mutation_p.A121V NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 121 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCCACCTGGCAGACGCCGTG 0.672 NA 4 70 0 0 0.009096 0 0 MXRA5 25878 broad.mit.edu 37 X 3228004 3228004 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:3228004G>T uc004crg.3 - 7 8397 c.8240C>A c.(8239-8241)CCC>CAC p.P2747H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2747 Ig-like C2-type 12. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGTGTTCCCGGGCCGGGTGTA 0.597 NA 24 47 7.92952e-12 1.16772e-11 0.003954 1 0 MXRA5 25878 broad.mit.edu 37 X 3240048 3240048 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:3240048G>T uc004crg.3 - 5 3835 c.3678C>A c.(3676-3678)TCC>TCA p.S1226S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1226 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTGTTCCCTTGGATGTGGGTT 0.498 NA 32 98 1.08312e-15 1.76829e-15 0.009535 1 0 MXRA5 25878 broad.mit.edu 37 X 3240386 3240386 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:3240386C>A uc004crg.3 - 5 3497 c.3340G>T c.(3340-3342)GAA>TAA p.E1114* NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1114 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACTGTGGTTTCCGCAGGCTTC 0.493 NA 26 40 2.41591e-17 4.06096e-17 0.004656 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821809 5821809 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:5821809C>T uc010ndh.2 - 5 1411 c.910G>A c.(910-912)GTC>ATC p.V304I NLGN4X_uc004crp.2_Missense_Mutation_p.V324I|NLGN4X_uc004crq.2_Missense_Mutation_p.V304I|NLGN4X_uc010ndi.2_Missense_Mutation_p.V341I|NLGN4X_uc004crr.2_Missense_Mutation_p.V304I|NLGN4X_uc010ndj.2_Missense_Mutation_p.V304I NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 304 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TTGCAGCCGACCTTGTCTGCC 0.577 NA 16 63 0 0 0.007413 0 0 TLR8 51311 broad.mit.edu 37 X 12937852 12937852 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:12937852C>G uc004cve.2 + 2 761 c.693C>G c.(691-693)AAC>AAG p.N231K TLR8_uc004cvd.2_Missense_Mutation_p.N249K NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 231 LRR 5.|Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TTCTGAGCAACACCCAGATCA 0.408 NA 19 103 0 0 0.008871 0 0 BMX 660 broad.mit.edu 37 X 15554498 15554498 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:15554498C>A uc004cww.2 + 13 1358 c.1170C>A c.(1168-1170)CAC>CAA p.H390Q BMX_uc004cwx.3_Missense_Mutation_p.H390Q|BMX_uc004cwy.3_Missense_Mutation_p.H390Q NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 390 SH2. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) GGCTCCGCCACCCTGTGTCAA 0.328 NA 27 111 2.08457e-15 3.38163e-15 0.002096 1 0 GPR64 10149 broad.mit.edu 37 X 19031889 19031889 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:19031889T>A uc004cyx.2 - 16 1178 c.1014A>T c.(1012-1014)CCA>CCT p.P338P GPR64_uc004cyy.2_Silent_p.P335P|GPR64_uc004cyz.2_Silent_p.P324P|GPR64_uc004czb.2_Silent_p.P338P|GPR64_uc004czc.2_Silent_p.P322P|GPR64_uc004czd.2_Silent_p.P314P|GPR64_uc004cze.2_Silent_p.P308P|GPR64_uc004czf.2_Silent_p.P300P|GPR64_uc004cza.2_Silent_p.P316P|GPR64_uc004cyw.2_Silent_p.P322P|GPR64_uc010nfj.2_Silent_p.P308P NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 338 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TCACAGGAGGTGGGGTGCCGG 0.562 NA 24 117 0 0 0.004656 0 0 CNKSR2 22866 broad.mit.edu 37 X 21534736 21534736 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:21534736C>A uc004czx.1 + 9 980 c.944C>A c.(943-945)CCC>CAC p.P315H CNKSR2_uc004czw.2_Missense_Mutation_p.P315H|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Missense_Mutation_p.P315H NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 315 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AGATGGAAGCCCCTTGCTCTG 0.418 NA 16 57 5.3912e-06 6.41421e-06 0.006122 1 0 CNKSR2 22866 broad.mit.edu 37 X 21667055 21667055 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:21667055G>T uc004czx.1 + 21 2835 c.2799G>T c.(2797-2799)ATG>ATT p.M933I CNKSR2_uc011mjo.1_Missense_Mutation_p.M903I NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 933 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CAACCAAGATGGAATACAAGC 0.388 NA 24 121 2.24059e-21 3.94129e-21 0.00632 1 0 PTCHD1 139411 broad.mit.edu 37 X 23412273 23412273 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:23412273C>A uc004dal.3 + 3 2646 c.2638C>A c.(2638-2640)CGT>AGT p.R880S NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 880 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CGATAGTACCCGTGTGGTTGA 0.378 NA 27 70 1.17739e-12 1.79062e-12 0.005443 1 0 MAGEB4 4115 broad.mit.edu 37 X 30260998 30260998 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:30260998T>A uc004dcb.2 + 1 830 c.746T>A c.(745-747)CTG>CAG p.L249Q MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 249 MAGE. ovary(1) 1 ACCCAAGATCTGGTACAGGAA 0.493 NA 9 41 0 0 0.006214 0 0 DMD 1756 broad.mit.edu 37 X 32591656 32591656 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:32591656T>C uc004dda.1 - 15 2047 c.1803A>G c.(1801-1803)CAA>CAG p.Q601Q DMD_uc004dcz.2_Silent_p.Q478Q|DMD_uc004dcy.1_Silent_p.Q597Q|DMD_uc004ddb.1_Silent_p.Q593Q|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.Q593Q|DMD_uc010ngp.1_3'UTR|DMD_uc010ngq.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 601 Spectrin 3. 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) CGGCCAGTTTTTGAAGACTTG 0.323 NA 26 45 0 0 0.004656 0 0 DMD 1756 broad.mit.edu 37 X 32591898 32591898 + Silent SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:32591898G>A uc004dda.1 - 14 1912 c.1668C>T c.(1666-1668)GAC>GAT p.D556D DMD_uc004dcz.2_Silent_p.D433D|DMD_uc004dcy.1_Silent_p.D552D|DMD_uc004ddb.1_Silent_p.D548D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.D548D|DMD_uc010ngp.1_Missense_Mutation_p.T76I|DMD_uc010ngq.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 556 Spectrin 2. 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) TGAGAAGGATGTCTTGTAAAA 0.433 NA 5 28 0 0 0.000602 0 0 FAM47A 158724 broad.mit.edu 37 X 34150342 34150342 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:34150342C>T uc004ddg.2 - 1 87 c.54G>A c.(52-54)AAG>AAA p.K18K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 18 ovary(4)|central_nervous_system(1) 5 AGTACCAGGGCTTGGAGTCCA 0.612 NA 19 39 0 0 0.007413 0 0 FAM47B 170062 broad.mit.edu 37 X 34961712 34961712 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:34961712G>T uc004ddi.1 + 1 782 c.764G>T c.(763-765)GGA>GTA p.G255V NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 255 Pro-rich. ovary(3)|breast(1) 4 CCCGAGACTGGAGTGTCCCAT 0.637 NA 14 41 9.05144e-12 1.33102e-11 0.001855 1 0 FAM47C 442444 broad.mit.edu 37 X 37028757 37028757 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:37028757C>G uc004ddl.1 + 1 2288 c.2274C>G c.(2272-2274)CGC>CGG p.R758R NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 758 ovary(3) 3 TTGAGACTCGCGTATCTCATC 0.632 NA 19 27 0 0 0.001882 0 0 CYBB 1536 broad.mit.edu 37 X 37653016 37653016 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:37653016G>T uc004ddr.2 + 5 497 c.436G>T c.(436-438)GAC>TAC p.D146Y CYBB_uc011mke.1_Intron|CYBB_uc011mkf.1_Missense_Mutation_p.D114Y|CYBB_uc011mkg.1_Intron NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 146 Extracellular (Potential).|Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 TGAACTTGGAGACAGGCAAAA 0.383 NA 21 94 6.33239e-15 1.02077e-14 0.010504 1 0 ATP6AP2 10159 broad.mit.edu 37 X 40464916 40464916 + Missense_Mutation SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:40464916T>G uc004det.2 + 9 1064 c.962T>G c.(961-963)GTG>GGG p.V321G ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.V245G|ATP6AP2_uc011mkm.1_Missense_Mutation_p.V289G|ATP6AP2_uc011mkn.1_Missense_Mutation_p.V243G|ATP6AP2_uc004deu.1_Missense_Mutation_p.V185G NM_005765 NP_005756 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory 321 Helical; (Potential). angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity 0 GCCTTGGCTGTGATTATCACC 0.373 NA 9 80 0 0 0.004482 0 0 NYX 60506 broad.mit.edu 37 X 41333566 41333566 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:41333566G>C uc004dfh.2 + 2 1290 c.860G>C c.(859-861)CGC>CCC p.R287P NYX_uc011mku.1_Missense_Mutation_p.R282P NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 287 LRR 10. response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 TACCTGGACCGCAACAGCATC 0.701 NA 9 33 0 0 0.006214 0 0 CASK 8573 broad.mit.edu 37 X 41495914 41495914 + Nonsense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:41495914C>A uc004dfl.3 - 9 878 c.832G>T c.(832-834)GAG>TAG p.E278* CASK_uc004dfk.3_Nonsense_Mutation_p.E93*|CASK_uc004dfm.3_Nonsense_Mutation_p.E278*|CASK_uc004dfn.3_Nonsense_Mutation_p.E278* NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 278 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 CGATCCCGCTCCTATGTAAGA 0.313 NSCLC(42;104 1086 3090 27189 35040) NA 16 57 1.99824e-07 2.50269e-07 0.00499 1 0 USP11 8237 broad.mit.edu 37 X 47106710 47106710 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:47106710G>T uc004dhp.2 + 19 2557 c.2557G>T c.(2557-2559)GAC>TAC p.D853Y USP11_uc004dhq.2_Missense_Mutation_p.D579Y NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 853 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 CAGGGACCTGGACTTCTCTGA 0.557 NA 26 30 2.41591e-17 4.06096e-17 0.004656 1 0 HDAC6 10013 broad.mit.edu 37 X 48663850 48663850 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:48663850C>G uc011mmi.1 + 5 412 c.317C>G c.(316-318)CCG>CGG p.P106R HDAC6_uc004dkr.1_Missense_Mutation_p.P106R|HDAC6_uc004dks.1_Missense_Mutation_p.P106R|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.P106R|HDAC6_uc004dku.3_Missense_Mutation_p.P106R|HDAC6_uc011mmj.1_Missense_Mutation_p.P51R|HDAC6_uc011mmk.1_Missense_Mutation_p.P87R NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 106 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) CCCAGCTTCCCGGAAGGCCCT 0.592 Pancreas(112;205 1675 2305 8976 15959) NA 6 9 0 0 0.004482 0 0 CACNA1F 778 broad.mit.edu 37 X 49063081 49063081 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:49063081C>A uc004dnb.2 - 46 5458 c.5396G>T c.(5395-5397)CGG>CTG p.R1799L CACNA1F_uc010nip.2_Missense_Mutation_p.R1788L NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1799 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GGAGGGCTTCCGACCTGGGGG 0.612 NA 7 33 0.000274275 0.00030271 0.004482 1 0 CACNA1F 778 broad.mit.edu 37 X 49063213 49063213 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:49063213G>A uc004dnb.2 - 45 5430 c.5368C>T c.(5368-5370)CGT>TGT p.R1790C CACNA1F_uc010nip.2_Missense_Mutation_p.R1779C NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1790 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GGCAGCAGACGGCGGCGTGGT 0.612 NA 22 30 0 0 0.00632 0 0 CCNB3 85417 broad.mit.edu 37 X 50089805 50089805 + Missense_Mutation SNP G G T rs61751434 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:50089805G>T uc004dox.3 + 10 4107 c.3809G>T c.(3808-3810)AGG>ATG p.R1270M CCNB3_uc004doy.2_Missense_Mutation_p.R1270M|CCNB3_uc004doz.2_Missense_Mutation_p.R166M|CCNB3_uc010njq.2_Missense_Mutation_p.R162M|CCNB3_uc004dpa.2_Missense_Mutation_p.R109M NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1270 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AGATATGCTAGGGTAAGAGAG 0.468 NA 9 18 7.48243e-07 9.20222e-07 0.006214 1 0 KLF8 11279 broad.mit.edu 37 X 56310868 56310868 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:56310868C>A uc004dur.2 + 6 1967 c.1021C>A c.(1021-1023)CGC>AGC p.R341S KLF8_uc011mop.1_3'UTR|KLF8_uc010nkh.2_RNA NM_007250 NP_009181 O95600 KLF8_HUMAN Kruppel-like factor 8 isoform 1 341 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGACTGCAACCGCAGCTTTTC 0.562 NA 3 24 0.004672 0.00495824 0.004672 1 0 HEPH 9843 broad.mit.edu 37 X 65413471 65413471 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:65413471G>T uc011moz.1 + 8 1429 c.1369G>T c.(1369-1371)GGA>TGA p.G457* HEPH_uc004dwn.2_Nonsense_Mutation_p.G457*|HEPH_uc004dwo.2_Nonsense_Mutation_p.G187*|HEPH_uc010nkr.2_Nonsense_Mutation_p.G457*|HEPH_uc011mpa.1_Nonsense_Mutation_p.G457* NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 454 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TAGGCATCTTGGAATCCTGGG 0.428 NA 14 32 1.15088e-07 1.44674e-07 0.004007 1 0 HEPH 9843 broad.mit.edu 37 X 65428009 65428009 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:65428009T>C uc011moz.1 + 15 2553 c.2493T>C c.(2491-2493)AAT>AAC p.N831N HEPH_uc004dwn.2_Silent_p.N831N|HEPH_uc004dwo.2_Silent_p.N561N|HEPH_uc010nkr.2_Silent_p.N639N|HEPH_uc011mpa.1_Silent_p.N831N|HEPH_uc010nks.2_Silent_p.N120N NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 828 Extracellular (Potential).|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TATTCAAGAATAATGCCAGCC 0.428 NA 8 9 0 0 0.004482 0 0 EDA 1896 broad.mit.edu 37 X 68836384 68836384 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:68836384C>T uc004dxs.2 + 1 474 c.232C>T c.(232-234)CTT>TTT p.L78F EDA_uc004dxr.2_Missense_Mutation_p.L78F|EDA_uc011mpj.1_Missense_Mutation_p.L78F|EDA_uc004dxn.1_Missense_Mutation_p.L78F|EDA_uc004dxm.1_Missense_Mutation_p.L78F|EDA_uc004dxp.1_Missense_Mutation_p.L78F|EDA_uc004dxq.1_Missense_Mutation_p.L78F|EDA_uc004dxl.1_Missense_Mutation_p.L78F NM_001399 NP_001390 Q92838 EDA_HUMAN ectodysplasin A isoform EDA-A1 78 Extracellular (Potential). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding ovary(2)|large_intestine(1) 3 CGAGTCCCGCCTTGGCGGCTC 0.672 NA 7 31 0 0 0.001984 0 0 ACRC 93953 broad.mit.edu 37 X 70811981 70811981 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:70811981T>A uc004eae.2 + 3 570 c.69T>A c.(67-69)CTT>CTA p.L23L BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 23 nucleus ovary(3) 3 Renal(35;0.156) GTTACATCCTTAATGTTCAGT 0.373 NA 15 73 0 0 0.00245 0 0 ATRX 546 broad.mit.edu 37 X 76953071 76953071 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:76953071C>A uc004ecp.3 - 4 474 c.242G>T c.(241-243)AGG>ATG p.R81M ATRX_uc004ecq.3_Missense_Mutation_p.R81M|ATRX_uc004eco.3_Translation_Start_Site|ATRX_uc004ecr.2_Missense_Mutation_p.R81M|ATRX_uc010nlx.1_Missense_Mutation_p.R81M|ATRX_uc010nly.1_Missense_Mutation_p.R26M NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 81 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) ATCAACCAACCTCTTTGATCG 0.343 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 13 82 1.62849e-17 2.76006e-17 0.004007 1 0 SATL1 340562 broad.mit.edu 37 X 84362769 84362769 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:84362769G>T uc011mqx.1 - 1 1206 c.1206C>A c.(1204-1206)AGC>AGA p.S402R SATL1_uc004een.2_Missense_Mutation_p.S402R NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 215 Gln-rich. N-acetyltransferase activity breast(2) 2 TGCCTGATTGGCTGGTGCCTA 0.537 NA 11 61 0.00010058 0.000112959 0.001368 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177645 89177645 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:89177645C>A uc004efe.2 + 2 610 c.561C>A c.(559-561)GCC>GCA p.A187A NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 187 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CCGGAATAGCCCAGCCGAAGA 0.567 NA 4 21 0.000602214 0.000660368 0.000602 1 0 PABPC5 140886 broad.mit.edu 37 X 90691663 90691663 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:90691663G>T uc004efg.2 + 2 1527 c.1087G>T c.(1087-1089)GGC>TGC p.G363C PABPC5_uc004eff.1_Missense_Mutation_p.G199C NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 363 RRM 4. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TGAGATGAATGGCCGCATAGT 0.532 NA 16 67 1.15088e-07 1.44674e-07 0.004007 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873299 91873299 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:91873299C>A uc004efk.1 + 7 4249 c.3404C>A c.(3403-3405)GCC>GAC p.A1135D PCDH11X_uc004efl.1_Missense_Mutation_p.A1125D|PCDH11X_uc004efo.1_Missense_Mutation_p.A1098D|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1127D|PCDH11X_uc004efn.1_Missense_Mutation_p.A1117D NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1135 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GTGGAAGAGGCCTCTGACAAC 0.433 NSCLC(38;925 1092 2571 38200 45895) NA 31 11 7.01153e-11 9.98021e-11 0.007291 1 0 TNMD 64102 broad.mit.edu 37 X 99854595 99854595 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:99854595G>A uc004efy.3 + 7 1061 c.835G>A c.(835-837)GTC>ATC p.V279I TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 279 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 TTGCCGCCGCGTCTGTGAACC 0.488 NA 4 31 0 0 0.009096 0 0 ARMCX2 9823 broad.mit.edu 37 X 100912509 100912509 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:100912509G>T uc004eid.2 - 3 421 c.66C>A c.(64-66)TAC>TAA p.Y22* ARMCX2_uc004eie.3_Nonsense_Mutation_p.Y22*|ARMCX2_uc004eif.3_Nonsense_Mutation_p.Y22*|ARMCX2_uc004eig.3_Nonsense_Mutation_p.Y22*|ARMCX2_uc010nnt.2_Nonsense_Mutation_p.Y22* NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 22 Helical; (Potential). integral to membrane binding ovary(6) 6 TGTAGACACAGTACCAGGCAC 0.473 NA 16 62 0.000422831 0.000465661 0.004007 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011394 105011394 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:105011394G>A uc004elz.1 + 11 2557 c.1801G>A c.(1801-1803)GCT>ACT p.A601T NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 601 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GTCATCTCAGGCTGATCTCCC 0.488 NA 14 91 0 0 0.00245 0 0 PSMD10 5716 broad.mit.edu 37 X 107331000 107331000 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:107331000G>T uc004enp.1 - 4 541 c.443C>A c.(442-444)GCC>GAC p.A148D PSMD10_uc004enq.1_Missense_Mutation_p.A148D|PSMD10_uc010nph.1_Missense_Mutation_p.A99D NM_002814 NP_002805 O75832 PSD10_HUMAN proteasome 26S non-ATPase subunit 10 isoform 1 148 ANK 5.|Interaction with RELA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding ovary(1) 1 GTTACCCTTGGCTGCTGCCCG 0.473 NA 39 119 4.67007e-22 8.24319e-22 0.00874 1 0 COL4A6 1288 broad.mit.edu 37 X 107402931 107402931 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:107402931A>T uc004enw.3 - 44 4679 c.4576T>A c.(4576-4578)TAC>AAC p.Y1526N COL4A6_uc004env.3_Missense_Mutation_p.Y1525N|COL4A6_uc011msn.1_Missense_Mutation_p.Y1501N|COL4A6_uc010npk.2_Missense_Mutation_p.Y1468N|COL4A6_uc011msm.1_Missense_Mutation_p.Y60N|COL4A6_uc010npj.2_Missense_Mutation_p.Y5N NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1526 Collagen IV NC1. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 ATGTTGCAGTAGATGAAGGGC 0.582 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 4 216 0 0 0.000602 0 0 COL4A6 1288 broad.mit.edu 37 X 107417735 107417735 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:107417735G>T uc004enw.3 - 31 3179 c.3076C>A c.(3076-3078)CGG>AGG p.R1026R COL4A6_uc004env.3_Silent_p.R1025R|COL4A6_uc011msn.1_Silent_p.R1025R|COL4A6_uc010npk.2_Silent_p.R1025R NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1026 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GGTAAGCCCCGGATTCCCATG 0.557 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 13 69 2.27111e-07 2.83058e-07 0.001368 1 0 GUCY2F 2986 broad.mit.edu 37 X 108625421 108625421 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:108625421G>T uc004eod.3 - 17 3352 c.3076C>A c.(3076-3078)CTC>ATC p.L1026I GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1026 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 ACAGTGCTGAGACTGACATGA 0.388 NA 36 188 1.90571e-15 3.0964e-15 0.004289 1 0 GUCY2F 2986 broad.mit.edu 37 X 108684682 108684682 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:108684682C>A uc004eod.3 - 7 1875 c.1599G>T c.(1597-1599)CAG>CAT p.Q533H GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 533 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 CTGAGGTAATCTGGAAGCTTA 0.428 NA 95 235 7.70235e-37 1.46045e-36 0.00361 1 0 KCNE1L 23630 broad.mit.edu 37 X 108867952 108867952 + Missense_Mutation SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:108867952C>T uc004eoh.2 - 1 442 c.298G>A c.(298-300)GAG>AAG p.E100K NM_012282 NP_036414 Q9UJ90 KCE1L_HUMAN potassium voltage-gated channel, Isk-related 100 Cytoplasmic (Potential). regulation of heart contraction voltage-gated potassium channel complex 0 CATTCGTGCTCGGCGCAAGCC 0.731 NA 3 11 0 0 0.004672 0 0 GLUD2 2747 broad.mit.edu 37 X 120181573 120181573 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:120181573C>A uc004eto.2 + 1 112 c.35C>A c.(34-36)TCC>TAC p.S12Y NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 12 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) CTGCTGCCGTCCCGGGCCGGG 0.766 NA 9 21 5.50884e-06 6.53894e-06 0.001368 1 0 GRIA3 2892 broad.mit.edu 37 X 122318470 122318470 + Missense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:122318470G>A uc004etq.3 + 2 376 c.83G>A c.(82-84)GGA>GAA p.G28E GRIA3_uc004etr.3_Missense_Mutation_p.G28E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_5'Flank|GRIA3_uc010nqs.1_Missense_Mutation_p.G28E NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 28 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) CATTCTCACGGAGGATTCCCC 0.587 NA 19 88 0 0 0.008871 0 0 STAG2 10735 broad.mit.edu 37 X 123220443 123220443 + Nonsense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:123220443A>T uc004etz.3 + 29 3439 c.3100A>T c.(3100-3102)AGA>TGA p.R1034* STAG2_uc004eua.2_Nonsense_Mutation_p.R1034*|STAG2_uc004eub.2_Nonsense_Mutation_p.R1034*|STAG2_uc004euc.2_Nonsense_Mutation_p.R1034*|STAG2_uc004eud.2_Nonsense_Mutation_p.R1034*|STAG2_uc004eue.2_Nonsense_Mutation_p.R1034* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 1034 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GTCACTCCGAAGAGAGGATGT 0.423 NA 26 90 0 0 0.008361 0 0 SMARCA1 6594 broad.mit.edu 37 X 128650469 128650469 + Silent SNP G G T rs145557250 byFrequency TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:128650469G>T uc004eun.3 - 3 380 c.267C>A c.(265-267)GCC>GCA p.A89A SMARCA1_uc004eup.3_Silent_p.A89A|SMARCA1_uc011muk.1_Silent_p.A89A|SMARCA1_uc011mul.1_Silent_p.A89A NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 89 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TTGCTCGGTCGGCTTTCTAAT 0.294 NA 16 83 2.32078e-09 3.14151e-09 0.003163 1 0 BCORL1 63035 broad.mit.edu 37 X 129147051 129147051 + Silent SNP C C T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:129147051C>T uc004evb.1 + 4 417 c.303C>T c.(301-303)TAC>TAT p.Y101Y BCORL1_uc010nrd.1_Silent_p.Y3Y NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 101 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 AAATGGACTACGCTGGGAACG 0.607 NA 15 47 0 0 0.003163 0 0 BCORL1 63035 broad.mit.edu 37 X 129148882 129148882 + Missense_Mutation SNP A A T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:129148882A>T uc004evb.1 + 4 2248 c.2134A>T c.(2134-2136)ACC>TCC p.T712S BCORL1_uc010nrd.1_Missense_Mutation_p.T614S NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 712 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 ACTGATCAGCACCATTCCTGG 0.602 NA 9 47 0 0 0.006214 0 0 AIFM1 9131 broad.mit.edu 37 X 129272583 129272583 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:129272583C>A uc004evg.2 - 9 1130 c.952G>T c.(952-954)GCT>TCT p.A318S AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.A318S|AIFM1_uc004evh.2_Missense_Mutation_p.A314S|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 318 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 CTGCCAAGAGCACAGGCCAGT 0.453 NA 20 97 7.45023e-12 1.10031e-11 0.010504 1 0 ENOX2 10495 broad.mit.edu 37 X 129837135 129837135 + Missense_Mutation SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:129837135C>G uc004evw.2 - 5 561 c.143G>C c.(142-144)GGA>GCA p.G48A ENOX2_uc004evx.2_Missense_Mutation_p.G19A|ENOX2_uc004evy.2_Missense_Mutation_p.G19A NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 48 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 CGGTGCCATTCCAAGATTATT 0.413 Ovarian(101;828 1506 2951 9500 35258) NA 22 81 0 0 0.00278 0 0 IGSF1 3547 broad.mit.edu 37 X 130409602 130409602 + Nonsense_Mutation SNP G G A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:130409602G>A uc004ewd.2 - 16 3272 c.3034C>T c.(3034-3036)CAG>TAG p.Q1012* IGSF1_uc004ewe.3_Nonsense_Mutation_p.Q1006*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.Q992* NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1012 Extracellular (Potential).|Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CCCCAGAGCTGCATTGAAGTG 0.537 NA 18 71 0 0 0.006122 0 0 GPC4 2239 broad.mit.edu 37 X 132473343 132473343 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:132473343C>A uc004exc.1 - 2 399 c.187G>T c.(187-189)GGT>TGT p.G63C GPC4_uc011mvg.1_5'UTR NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 63 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) CAGGTAGAACCCTGGGGACAG 0.423 NA 41 28 9.88483e-10 1.35601e-09 0.007835 1 0 GPC4 2239 broad.mit.edu 37 X 132548911 132548911 + Missense_Mutation SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:132548911T>C uc004exc.1 - 1 295 c.83A>G c.(82-84)AAA>AGA p.K28R GPC4_uc011mvg.1_5'Flank NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 28 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) CGAGCAACTTTTCGACTTGAG 0.642 NA 13 82 0 0 0.001855 0 0 SLC9A6 10479 broad.mit.edu 37 X 135106567 135106567 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:135106567C>A uc004ezj.2 + 12 1521 c.1445C>A c.(1444-1446)ACG>AAG p.T482K SLC9A6_uc004ezk.2_Missense_Mutation_p.T514K NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 482 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TTCAGCACCACGCTTCTGATT 0.473 NA 16 106 0.000958276 0.00104744 0.007413 1 0 GPR112 139378 broad.mit.edu 37 X 135443691 135443691 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:135443691G>C uc004ezu.1 + 12 7513 c.7222G>C c.(7222-7224)GAG>CAG p.E2408Q GPR112_uc010nsb.1_Missense_Mutation_p.E2203Q|GPR112_uc010nsc.1_Missense_Mutation_p.E2036Q NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2408 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CAACCCTACGGAGACAGCCCA 0.403 NA 16 73 0 0 0.00499 0 0 BRS3 680 broad.mit.edu 37 X 135570363 135570363 + Silent SNP T T C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:135570363T>C uc004ezv.1 + 1 239 c.90T>C c.(88-90)GAT>GAC p.D30D NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 30 Extracellular (Potential). adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TTTCTAACGATAACACAAATA 0.413 NA 43 42 0 0 0.00874 0 0 ATP11C 286410 broad.mit.edu 37 X 138850587 138850587 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:138850587C>A uc004faz.2 - 20 2331 c.2232G>T c.(2230-2232)TGG>TGT p.W744C ATP11C_uc004fax.2_5'UTR|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.W744C NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 744 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) GATGTTCTGTCCATGCTCTGA 0.338 NA 29 31 6.38683e-12 9.45992e-12 0.008361 1 0 MAGEC3 139081 broad.mit.edu 37 X 140985492 140985492 + Silent SNP C C G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:140985492C>G uc011mwp.1 + 8 1806 c.1806C>G c.(1804-1806)TCC>TCG p.S602S MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 602 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCTTTCCATCCTGGTACATGG 0.478 NA 28 108 0 0 0.007291 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994985 140994985 + Missense_Mutation SNP C C A rs150321883 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:140994985C>A uc004fbt.2 + 4 2081 c.1795C>A c.(1795-1797)CCT>ACT p.P599T MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 599 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGG 0.582 NA HNSCC(15;0.026) 89 477 1.50328e-30 2.79336e-30 0.00361 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996472 140996472 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:140996472C>A uc004fbt.2 + 4 3568 c.3282C>A c.(3280-3282)ACC>ACA p.T1094T MAGEC1_uc010nsl.1_Silent_p.T161T NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1094 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TAAAGAATACCGTCCCTATTA 0.453 NA HNSCC(15;0.026) 28 209 8.16721e-17 1.36387e-16 0.002096 1 0 FMR1 2332 broad.mit.edu 37 X 147011477 147011477 + Nonsense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:147011477G>T uc010nst.2 + 6 619 c.430G>T c.(430-432)GAG>TAG p.E144* FMR1_uc011mwz.1_Nonsense_Mutation_p.E144*|FMR1_uc004fcj.2_Nonsense_Mutation_p.E144*|FMR1_uc004fck.3_Nonsense_Mutation_p.E144*|FMR1_uc004fcl.3_Nonsense_Mutation_p.E5*|FMR1_uc011mxa.1_5'Flank NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 144 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTGTGCCAAAGAGGCGGCACA 0.328 NA Fragile_X_syndrome 6 39 0.00198382 0.00213417 0.001984 1 0 MAGEA11 4110 broad.mit.edu 37 X 148798268 148798268 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:148798268G>T uc004fdq.2 + 5 1224 c.1122G>T c.(1120-1122)GTG>GTT p.V374V HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.V345V NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 374 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ACCGGCAGGTGCCCGGCACTG 0.552 NA 139 118 4.74804e-72 9.19034e-72 0.00361 1 0 PASD1 139135 broad.mit.edu 37 X 150832785 150832785 + Missense_Mutation SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:150832785T>A uc004fev.3 + 11 1368 c.1036T>A c.(1036-1038)TCA>ACA p.S346T NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 346 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGAGGACTCAGTGGACCT 0.587 NA 7 63 0 0 0.004482 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092781 151092781 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:151092781C>A uc004fez.2 + 3 801 c.645C>A c.(643-645)GAC>GAA p.D215E MAGEA4_uc004ffa.2_Missense_Mutation_p.D215E|MAGEA4_uc004ffb.2_Missense_Mutation_p.D215E|MAGEA4_uc004ffc.2_Missense_Mutation_p.D215E|MAGEA4_uc004ffd.2_Missense_Mutation_p.D215E NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 215 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGGAGGGCGACAGCGCCTCTG 0.562 NA 13 121 7.93312e-07 9.7214e-07 0.00245 1 0 ATP2B3 492 broad.mit.edu 37 X 152818574 152818574 + Silent SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:152818574C>A uc004fht.1 + 11 2031 c.1905C>A c.(1903-1905)ATC>ATA p.I635I ATP2B3_uc004fhs.1_Silent_p.I635I NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 635 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGAAGATCATCGAGCCGATGG 0.627 NA 8 37 5.18039e-06 6.17778e-06 0.00308 1 0 L1CAM 3897 broad.mit.edu 37 X 153137773 153137773 + Silent SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:153137773G>T uc004fjb.2 - 4 342 c.234C>A c.(232-234)CCC>CCA p.P78P L1CAM_uc004fjc.2_Silent_p.P78P|L1CAM_uc010nuo.2_Silent_p.P73P|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.P73P NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 78 Extracellular (Potential).|Ig-like C2-type 1. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCTTCCTTGGGTTTGAAGT 0.607 NA 32 20 2.48696e-23 4.49058e-23 0.003271 1 0 HCFC1 3054 broad.mit.edu 37 X 153220719 153220719 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:153220719G>T uc004fjp.2 - 17 3659 c.3131C>A c.(3130-3132)ACC>AAC p.T1044N NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1044 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGCACTTGGGTGGGCTGGGG 0.597 NA 15 135 4.7546e-09 6.3519e-09 0.004007 1 0 TKTL1 8277 broad.mit.edu 37 X 153539266 153539266 + Missense_Mutation SNP T T G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:153539266T>G uc004fkg.2 + 4 616 c.430T>G c.(430-432)TAC>GAC p.Y144D TKTL1_uc011mzl.1_Missense_Mutation_p.Y138D|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.Y88D NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 144 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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) TGCTTCCTACTACAGTCTGGA 0.542 NA 3 106 0 0 0.004672 0 0 MTCP1 4515 broad.mit.edu 37 X 154293943 154293943 + Missense_Mutation SNP C C A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:154293943C>A uc004fmz.2 - 3 853 c.227G>T c.(226-228)CGC>CTC p.R76L MTCP1NB_uc004fmy.2_Intron NM_001018025 NP_001018025 P56278 MTCP1_HUMAN mature T-cell proliferation 1 76 cell proliferation lung(1) 1 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCCATGTAGCGCTCCTCCGG 0.478 NA T TRA@ T cell prolymphocytic leukemia 18 161 8.10497e-08 1.03412e-07 0.010504 1 0 CLIC2 1193 broad.mit.edu 37 X 154507270 154507270 + Silent SNP A A G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:154507270A>G uc004fnf.2 - 6 916 c.666T>C c.(664-666)CGT>CGC p.R222R NM_001289 NP_001280 O15247 CLIC2_HUMAN chloride intracellular channel 2 222 GST C-terminal.|C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity p.R222H(1) large_intestine(1)|ovary(1)|skin(1) 3 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TAAATTCTTCACGGGCATAGG 0.413 Melanoma(108;581 1592 2289 21669 28822) NA 15 136 0 0 0.00499 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186862291 186862291 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:186862291delG uc001gsc.2 + 4 469 c.264delG c.(262-264)GAGfs p.E88fs PLA2G4A_uc010pos.1_Frame_Shift_Del_p.E88fs NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 88 C2.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ATGTTTTGGAGGTAAGTGAAC 0.373 NA 46 241 --- --- --- --- NA NA NA NA NA KIF26B 55083 broad.mit.edu 37 1 245851437 245851437 + Frame_Shift_Del DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:245851437delC uc001ibf.1 + 12 5592 c.5152delC c.(5152-5154)CCCfs p.P1718fs KIF26B_uc001ibg.1_Frame_Shift_Del_p.P1336fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.P960fs NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1718 Ser-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGGGACCTCGCCCCCCAGCTC 0.771 NA 4 7 --- --- --- --- NA NA NA NA NA OR2T6 254879 broad.mit.edu 37 1 248551620 248551621 + Frame_Shift_Ins INS - - T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr1:248551620_248551621insT uc001iei.1 + 1 711_712 c.711_712insT c.(709-714)GCCTTTfs p.A237fs NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 237_238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGAAGAAGGCCTTTGCCACCTG 0.505 NA 19 110 --- --- --- --- NA NA NA NA NA OR56B1 387748 broad.mit.edu 37 11 5757967 5757967 + Frame_Shift_Del DEL T T - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:5757967delT uc001mbt.1 + 1 221 c.221delT c.(220-222)ATCfs p.I74fs TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Frame_Shift_Del_p.I74fs|OR56B1_uc009yev.1_Frame_Shift_Del_p.I74fs NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TTCCTTGGCATCCTCTGTATG 0.478 NA 15 52 --- --- --- --- NA NA NA NA NA CHST1 8534 broad.mit.edu 37 11 45672154 45672154 + Frame_Shift_Del DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr11:45672154delC uc001mys.1 - 4 991 c.320delG c.(319-321)GGCfs p.G107fs NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 107 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGGGCTCTTGCCCTGGGTGAA 0.627 NA 20 163 --- --- --- --- NA NA NA NA NA KIAA0748 9840 broad.mit.edu 37 12 55357547 55357547 + Frame_Shift_Del DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr12:55357547delC uc001sgn.3 - 8 744 c.634delG c.(634-636)GACfs p.D212fs KIAA0748_uc001sgl.3_Frame_Shift_Del_p.D74fs|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_Intron|KIAA0748_uc010spc.1_Frame_Shift_Del_p.D74fs|KIAA0748_uc010spd.1_Frame_Shift_Del_p.D212fs|KIAA0748_uc001sgo.3_Intron NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 212 ovary(1)|central_nervous_system(1) 2 AGGCAGGGGTCTTCCATTTCA 0.547 NA 17 16 --- --- --- --- NA NA NA NA NA KL 9365 broad.mit.edu 37 13 33591005 33591005 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr13:33591005delG uc001uus.2 + 1 435 c.427delG c.(427-429)GGGfs p.G143fs KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 143 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GCGCGAGCTCGGGGTCACTCA 0.716 NA 25 32 --- --- --- --- NA NA NA NA NA NOVA1 4857 broad.mit.edu 37 14 26918152 26918152 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:26918152delG uc001wpy.2 - 5 855 c.537delC c.(535-537)CCCfs p.P179fs NOVA1_uc001wpz.2_Frame_Shift_Del_p.P155fs|NOVA1_uc001wqa.2_Frame_Shift_Del_p.P57fs NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 182 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) CTGTGCTGTTGGGAACTATAA 0.383 NA 15 126 --- --- --- --- NA NA NA NA NA RPL10L 140801 broad.mit.edu 37 14 47120870 47120870 + Frame_Shift_Del DEL G G - rs141953926 TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr14:47120870delG uc001wwg.2 - 1 159 c.70delC c.(70-72)CGAfs p.R24fs NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 24 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 GGAACCCCTCGGCAGAAACGA 0.542 NA 18 83 --- --- --- --- NA NA NA NA NA TMEM62 80021 broad.mit.edu 37 15 43430790 43430790 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:43430790delG uc001zqr.2 + 4 728 c.449delG c.(448-450)AGTfs p.S150fs TMEM62_uc010bda.2_Frame_Shift_Del_p.S20fs NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 150 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) AATATTCCAAGTCTGGACAGC 0.308 NA 21 33 --- --- --- --- NA NA NA NA NA SH3GL3 6457 broad.mit.edu 37 15 84237419 84237419 + Frame_Shift_Del DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:84237419delC uc002bjw.2 + 4 521 c.326delC c.(325-327)ACCfs p.T109fs SH3GL3_uc010uot.1_Frame_Shift_Del_p.T109fs|SH3GL3_uc002bjx.2_Frame_Shift_Del_p.T40fs|SH3GL3_uc002bju.2_Frame_Shift_Del_p.T117fs|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 109 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GAAGACTCCACCTTTGGTGAG 0.502 NA 25 43 --- --- --- --- NA NA NA NA NA AGBL1 123624 broad.mit.edu 37 15 86801251 86801251 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr15:86801251delG uc002blz.1 + 8 900 c.820delG c.(820-822)GGGfs p.G274fs NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 274 Asp-rich. C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TACTGAAGATGGGAAAGTGGA 0.433 NA 35 134 --- --- --- --- NA NA NA NA NA IL21R 50615 broad.mit.edu 37 16 27455957 27455957 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:27455957delG uc002doq.1 + 6 835 c.602delG c.(601-603)CGGfs p.R201fs IL21R_uc002dor.1_Frame_Shift_Del_p.R201fs|IL21R_uc002dos.1_Frame_Shift_Del_p.R201fs NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 201 Extracellular (Potential).|Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CTGCAGGTGCGGGCAGGGCCC 0.597 NA T BCL6 NHL 38 89 --- --- --- --- NA NA NA NA NA NKD1 85407 broad.mit.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr16:50667134_50667135insC uc002egg.1 + 10 1079_1080 c.855_856insC c.(853-858)CTGCCCfs p.L285fs NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 285_286 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AGTCAGAACTGCCCCCCCGCAC 0.485 NA 7 68 --- --- --- --- NA NA NA NA NA COG1 9382 broad.mit.edu 37 17 71204463 71204464 + Frame_Shift_Ins INS - - G TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr17:71204463_71204464insG uc002jjg.2 + 14 2852_2853 c.2816_2817insG c.(2815-2817)CCGfs p.P939fs COG1_uc002jjh.2_3'UTR|COG1_uc002jjf.1_3'UTR|FAM104A_uc002jjj.3_3'UTR|FAM104A_uc002jji.3_3'UTR NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 939 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) GTTGTCCCCCCGGCACGCTCCA 0.574 NA 34 47 --- --- --- --- NA NA NA NA NA GRIN2D 2906 broad.mit.edu 37 19 48919404 48919404 + Frame_Shift_Del DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr19:48919404delC uc002pjc.3 + 7 1815 c.1727delC c.(1726-1728)GCCfs p.A576fs NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 576 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TCCCCCTCGGCCTTCCTCGGT 0.547 NA 12 41 --- --- --- --- NA NA NA NA NA GALM 130589 broad.mit.edu 37 2 38908485 38908487 + In_Frame_Del DEL GAA GAA - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:38908485_38908487delGAA uc002rqy.2 + 3 661_663 c.409_411delGAA c.(409-411)GAAdel p.E138del NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 138 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) TCCAGATGGTGAAGAAGGCTACC 0.532 NA 8 199 --- --- --- --- NA NA NA NA NA LRRTM4 80059 broad.mit.edu 37 2 77745528 77745528 + Frame_Shift_Del DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:77745528delC uc002snr.2 - 3 1882 c.1467delG c.(1465-1467)AAGfs p.K489fs LRRTM4_uc002snq.2_Frame_Shift_Del_p.K489fs|LRRTM4_uc002sns.2_Frame_Shift_Del_p.K489fs|LRRTM4_uc002snt.2_Frame_Shift_Del_p.K490fs NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 489 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AGTTTGTAGGCTTGTAGTCCA 0.463 NA 17 26 --- --- --- --- NA NA NA NA NA THSD7B 80731 broad.mit.edu 37 2 138169367 138169367 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:138169367delG uc002tva.1 + 13 2791 c.2791delG c.(2791-2793)GGCfs p.G931fs THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Frame_Shift_Del_p.G821fs 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) ATGTGGAGAAGGCCTGCGCTT 0.512 NA 17 51 --- --- --- --- NA NA NA NA NA HJURP 55355 broad.mit.edu 37 2 234746241 234746242 + Frame_Shift_Ins INS - - A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr2:234746241_234746242insA uc002vvg.2 - 9 2294_2295 c.2228_2229insT c.(2227-2229)TTGfs p.L743fs HJURP_uc010znd.1_Frame_Shift_Ins_p.L682fs|HJURP_uc010zne.1_Frame_Shift_Ins_p.L651fs NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 743 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TTTTAGTTTCCAATTTTTCTAG 0.332 NA 11 64 --- --- --- --- NA NA NA NA NA MN1 4330 broad.mit.edu 37 22 28192956 28192956 + Frame_Shift_Del DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr22:28192956delC uc003adj.2 - 1 4531 c.3576delG c.(3574-3576)GCGfs p.A1192fs NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1192 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CGCCATTCTGCGCCCCTGAGG 0.647 NA T ETV6 AML|meningioma 10 13 --- --- --- --- NA NA NA NA NA OR5H1 26341 broad.mit.edu 37 3 97852271 97852272 + Frame_Shift_Ins INS - - A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:97852271_97852272insA uc011bgt.1 + 1 730_731 c.730_731insA c.(730-732)CATfs p.H244fs NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CTGTGGAGCCCATCTCTTCTCT 0.411 NA 26 42 --- --- --- --- NA NA NA NA NA ABI3BP 25890 broad.mit.edu 37 3 100645145 100645145 + Splice_Site DEL C C - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr3:100645145delC uc003dun.2 - 2 365 c.280_splice c.e2+1 p.D94_splice ABI3BP_uc003duo.2_Splice_Site_p.D87_splice|ABI3BP_uc003dup.3_Splice_Site_p.D87_splice NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 AAACACCTTACCAACTATAGC 0.453 NA 20 37 --- --- --- --- NA NA NA NA NA MEGF10 84466 broad.mit.edu 37 5 126732373 126732373 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr5:126732373delG uc003kuh.3 + 7 924 c.562delG c.(562-564)GGTfs p.G188fs MEGF10_uc010jdc.1_Frame_Shift_Del_p.G188fs|MEGF10_uc010jdd.1_Frame_Shift_Del_p.G188fs|MEGF10_uc003kui.3_Frame_Shift_Del_p.G188fs NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 188 Extracellular (Potential).|EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GGGCACCTATGGTAACGACTG 0.632 NA 28 35 --- --- --- --- NA NA NA NA NA SEMA3E 9723 broad.mit.edu 37 7 83029344 83029345 + Frame_Shift_Ins INS - - T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chr7:83029344_83029345insT uc003uhy.1 - 11 1831_1832 c.1365_1366insA c.(1363-1368)ACAGATfs p.T455fs NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 455_456 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) GTCTCTTTACCTGTCCCAATAA 0.337 NA 48 119 --- --- --- --- NA NA NA NA NA RBBP7 5931 broad.mit.edu 37 X 16870709 16870709 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:16870709delG uc004cxt.2 - 8 1286 c.928delC c.(928-930)CATfs p.H310fs RBBP7_uc004cxs.1_Frame_Shift_Del_p.H354fs|RBBP7_uc004cxu.2_Frame_Shift_Del_p.H301fs|RBBP7_uc010nez.2_3'UTR NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 310 WD 5. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) TCGAAGGTATGGAGTTTTAAT 0.328 NA 21 111 --- --- --- --- NA NA NA NA NA FAM48B1 100130302 broad.mit.edu 37 X 24381860 24381860 + Frame_Shift_Del DEL G G - TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3ffc36d-b0b8-4ada-a00a-b48890c0162c 84b00131-cbbe-461f-a006-5277e14b05f9 g.chrX:24381860delG uc011mjx.1 + 1 983 c.983delG c.(982-984)TGGfs p.W328fs NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 CTCCCAGTCTGGCCAGCCCAG 0.552 NA 47 141 --- --- --- --- NA NA NA NA NA