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 CHD5 26038 broad.mit.edu 37 1 6185286 6185287 + Missense_Mutation DNP CC CC AA TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:6185286_6185287CC>AA uc001amb.1 - 29 4367_4368 c.4267_4268GG>TT c.(4267-4269)GGC>TTC p.G1423F CHD5_uc001alz.1_Missense_Mutation_p.G280F|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1423 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) GGCATTGAAGCCCAGCACCTGG 0.639 NA 4 5 0 0 0.004672 0 0 CHD5 26038 broad.mit.edu 37 1 6214773 6214773 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:6214773G>A uc001amb.1 - 5 792 c.692C>T c.(691-693)CCG>CTG p.P231L NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 231 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) GGGCACCTGCGGGGGGCTGAC 0.542 NA 6 20 0 0 0.00308 0 0 LOC649330 649330 broad.mit.edu 37 1 12908066 12908066 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:12908066A>G uc009vno.2 - 1 172 c.77T>C c.(76-78)CTT>CCT p.L26P HNRNPCL1_uc010obf.1_Missense_Mutation_p.L26P NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 26 nucleic acid binding|nucleotide binding 0 CTTGACAACAAGAGTGTTGAG 0.448 NA 4 208 0 0 0.001984 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13695833 13695833 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:13695833T>A uc009vny.1 - 3 1179 c.1132A>T c.(1132-1134)AAC>TAC p.N378Y NM_001099850 NP_001093320 Q5VWM3 PRA18_HUMAN PRAME family member 18 378 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;0.00224)|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) GTGGTGAGGTTGGAGCAGCGG 0.552 NA 4 97 0 0 0.001168 0 0 PIGV 55650 broad.mit.edu 37 1 27117369 27117369 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:27117369G>T uc001bmz.2 + 2 394 c.63G>T c.(61-63)CTG>CTT p.L21L PIGV_uc001bmy.2_5'UTR|PIGV_uc009vso.2_Silent_p.L21L|PIGV_uc010ofg.1_5'UTR|PIGV_uc001bna.2_Silent_p.L21L NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 21 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) GCCGTATCCTGACTCTGATGC 0.547 NA 38 23 6.48837e-15 9.30617e-15 0.010771 1 0 RCC1 1104 broad.mit.edu 37 1 28864429 28864429 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:28864429G>T uc001bqg.1 + 10 1261 c.1176G>T c.(1174-1176)ATG>ATT p.M392I SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.M392I|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.M392I|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.M392I|RCC1_uc001bqe.1_Missense_Mutation_p.M409I|RCC1_uc001bqf.1_Missense_Mutation_p.M423I NM_001269 NP_001260 P18754 RCC1_HUMAN regulator of chromosome condensation 1 isoform 392 RCC1 7. cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) TGGAGATGATGGGCAAACAGC 0.557 NA 11 10 1.58986e-06 1.86475e-06 0.008291 1 0 CSMD2 114784 broad.mit.edu 37 1 34112407 34112407 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:34112407G>A uc001bxn.1 - 29 4524 c.4495C>T c.(4495-4497)CTC>TTC p.L1499F CSMD2_uc001bxm.1_Missense_Mutation_p.L1539F|CSMD2_uc001bxo.1_Missense_Mutation_p.L412F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1499 CUB 9.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TAGATATGGAGGAAGTCATAG 0.542 NA 8 8 0 0 0.004482 0 0 CSMD2 114784 broad.mit.edu 37 1 34112410 34112410 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:34112410A>C uc001bxn.1 - 29 4521 c.4492T>G c.(4492-4494)TTC>GTC p.F1498V CSMD2_uc001bxm.1_Missense_Mutation_p.F1538V|CSMD2_uc001bxo.1_Missense_Mutation_p.F411V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1498 CUB 9.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATATGGAGGAAGTCATAGCCA 0.547 NA 8 8 0 0 0.004482 0 0 CTPS 1503 broad.mit.edu 37 1 41461722 41461722 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:41461722G>T uc001cgk.3 + 8 1362 c.854G>T c.(853-855)TGG>TTG p.W285L CTPS_uc010ojo.1_Missense_Mutation_p.W54L|CTPS_uc010ojp.1_Missense_Mutation_p.W292L|CTPS_uc001cgl.3_Missense_Mutation_p.W285L|CTPS_uc010ojq.1_Missense_Mutation_p.W129L|CTPS_uc009vwe.2_Missense_Mutation_p.W5L NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 285 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) CTGATGAAATGGAAAGAGATG 0.488 NA 9 37 2.17888e-05 2.48967e-05 0.006214 1 0 HIVEP3 59269 broad.mit.edu 37 1 42047134 42047134 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:42047134C>G uc001cgz.3 - 4 4548 c.3335G>C c.(3334-3336)GGG>GCG p.G1112A HIVEP3_uc001cha.3_Missense_Mutation_p.G1112A|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1112 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CACAGTGGGCCCCAATGGGGG 0.632 NA 15 77 0 0 0.00245 0 0 IL12RB2 3595 broad.mit.edu 37 1 67804386 67804386 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:67804386G>A uc001ddu.2 + 8 1678 c.1038G>A c.(1036-1038)AAG>AAA p.K346K IL12RB2_uc010oqi.1_Silent_p.K346K|IL12RB2_uc010oqj.1_Silent_p.K346K|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.K346K|IL12RB2_uc010oqm.1_Silent_p.K346K|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 346 Fibronectin type-III 3.|Extracellular (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 TTTTCTGGAAGGTGAGTTTTA 0.368 NA 18 53 0 0 0.007413 0 0 C1orf173 127254 broad.mit.edu 37 1 75037360 75037360 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:75037360C>A uc001dgg.2 - 14 4253 c.4034G>T c.(4033-4035)GGA>GTA p.G1345V NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1345 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTCACCACCTCCGTGTAGAAC 0.537 NA 19 72 2.39556e-15 3.50264e-15 0.00278 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77094408 77094408 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:77094408T>G uc001dhh.2 + 5 998 c.835T>G c.(835-837)TTT>GTT p.F279V ST6GALNAC3_uc010orh.1_Missense_Mutation_p.F178V NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 279 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 GGGTCATAGGTTTATCACTGA 0.378 NA 30 65 0 0 0.00632 0 0 PTGFR 5737 broad.mit.edu 37 1 79002220 79002220 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:79002220G>T uc001din.2 + 3 1194 c.928G>T c.(928-930)GCT>TCT p.A310S PTGFR_uc001dim.2_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 310 Cytoplasmic (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TCTACGAAAGGCTGTCCTTAA 0.378 NA 14 86 1.5739e-10 2.09389e-10 0.004007 1 0 WDR63 126820 broad.mit.edu 37 1 85547062 85547062 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:85547062A>T uc001dkt.2 + 4 440 c.249A>T c.(247-249)GCA>GCT p.A83A WDR63_uc009wcl.2_Silent_p.A83A NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 83 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) ACAGAGCTGCAGTATCTGATT 0.363 NA 26 74 0 0 0.007291 0 0 COL24A1 255631 broad.mit.edu 37 1 86210400 86210400 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:86210400G>T uc001dlj.2 - 57 4663 c.4621C>A c.(4621-4623)CCA>ACA p.P1541T COL24A1_uc001dli.2_Missense_Mutation_p.P656T|COL24A1_uc010osd.1_Missense_Mutation_p.P841T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1541 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ATTCGTGCTGGGTTATCTCGT 0.368 NA 25 30 4.7796e-09 6.02855e-09 0.004656 1 0 STXBP3 6814 broad.mit.edu 37 1 109315285 109315285 + Splice_Site SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:109315285A>T uc001dvy.2 + 7 514 c.439_splice c.e7-2 p.V147_splice STXBP3_uc001dvz.2_Splice_Site NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding p.?(1) ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) GTCTTAACTTAGGTGTATACT 0.279 NA 9 27 0 0 0.004482 0 0 CASQ2 845 broad.mit.edu 37 1 116287460 116287460 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:116287460G>T uc001efx.3 - 2 572 c.308C>A c.(307-309)GCC>GAC p.A103D CASQ2_uc010owu.1_Missense_Mutation_p.A103D NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 103 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CAGTTTCTTGGCAAGCTTGGC 0.403 NA 20 25 1.55795e-14 2.22184e-14 0.012319 1 0 TTF2 8458 broad.mit.edu 37 1 117605061 117605061 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:117605061G>T uc001egy.2 + 3 204 c.184G>T c.(184-186)GGT>TGT p.G62C TTF2_uc001egx.1_Missense_Mutation_p.G62C NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 62 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AGAGCTTCAGGGTTTGCTTCT 0.378 NA 5 68 3.59834e-05 4.09916e-05 0.001168 1 0 SPAG17 200162 broad.mit.edu 37 1 118550797 118550797 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:118550797C>T uc001ehk.2 - 31 4525 c.4457G>A c.(4456-4458)AGG>AAG p.R1486K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1486 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTCACCTGCCTGGTGACAGT 0.498 NA 10 26 0 0 0.008291 0 0 HSD3B2 3284 broad.mit.edu 37 1 119985605 119985605 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:119985605T>A uc001ehu.2 + 4 554 c.412T>A c.(412-414)TGT>AGT p.C138S P26439 3BHS2_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes: RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase; EC=1.1.1.145; AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase; AltName: Full=Progesterone reductase; Includes: RecName: Full=Steroid Delta-isomerase; EC=5.3.3.1; AltName: Full=Delta-5-3-ketosteroid isomerase; Error:Variant_position_missing_in_P26439_after_alignment androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CCACACCGCCTGTATCATTGA 0.507 NA 6 41 0 0 0.001168 0 0 HSD3B2 3284 broad.mit.edu 37 1 119985679 119985679 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:119985679G>T uc001ehu.2 + 4 628 c.486G>T c.(484-486)TGG>TGT p.W162C P26439 3BHS2_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes: RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase; EC=1.1.1.145; AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase; AltName: Full=Progesterone reductase; Includes: RecName: Full=Steroid Delta-isomerase; EC=5.3.3.1; AltName: Full=Delta-5-3-ketosteroid isomerase; Error:Variant_position_missing_in_P26439_after_alignment androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GGGTAGCCTGGGGAGGAGATA 0.493 NA 9 13 3.09899e-07 3.72175e-07 0.004482 1 0 HMGCS2 3158 broad.mit.edu 37 1 120301895 120301895 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:120301895T>A uc001eid.2 - 4 747 c.696A>T c.(694-696)GGA>GGT p.G232G HMGCS2_uc010oxj.1_Silent_p.G190G|HMGCS2_uc001eie.2_Silent_p.G140G NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 232 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CCATATGGGTTCCCCTCAGCC 0.473 NA 33 21 0 0 0.004878 0 0 CRNN 49860 broad.mit.edu 37 1 152384671 152384671 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:152384671C>G uc001ezx.2 - 2 113 c.39G>C c.(37-39)GAG>GAC p.E13D NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 13 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGAAGGCCTCGATGATCC 0.502 NA 5 143 0 0 0.000602 0 0 FAM189B 10712 broad.mit.edu 37 1 155220391 155220391 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:155220391G>A uc001fjm.2 - 9 1792 c.1186C>T c.(1186-1188)CCA>TCA p.P396S RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.P198S|FAM189B_uc001fjn.2_Missense_Mutation_p.P300S|FAM189B_uc001fjo.2_Missense_Mutation_p.P378S|FAM189B_uc001fjp.2_Intron NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 396 integral to membrane WW domain binding ovary(1)|breast(1) 2 GCAGCCCGTGGGGGGCGCCGT 0.716 NA 8 15 0 0 0.008291 0 0 BCAN 63827 broad.mit.edu 37 1 156622549 156622549 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:156622549G>T uc001fpp.2 + 8 2143 c.1807G>T c.(1807-1809)GGT>TGT p.G603C BCAN_uc001fpo.2_Missense_Mutation_p.G603C NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 603 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCCCCTGAGGGTACCAGGGA 0.647 NA 7 32 3.09899e-07 3.72175e-07 0.004482 1 0 CD1B 910 broad.mit.edu 37 1 158299405 158299405 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158299405C>T uc001frx.2 - 4 749 c.641G>A c.(640-642)AGT>AAT p.S214N CD1B_uc001frw.2_Missense_Mutation_p.S107N NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 214 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) AGGTCCAGGACTGGGGCCACT 0.547 NA 4 97 0 0 0.009096 0 0 SPTA1 6708 broad.mit.edu 37 1 158607998 158607998 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158607998C>G uc001fst.1 - 36 5213 c.5014G>C c.(5014-5016)GAT>CAT p.D1672H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1672 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GAGAGCAAATCTTCAGCCAAT 0.418 NA 21 69 0 0 0.00333 0 0 SPTA1 6708 broad.mit.edu 37 1 158644338 158644339 + Nonsense_Mutation DNP GC GC AA TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158644338_158644339GC>AA uc001fst.1 - 9 1438_1439 c.1239_1240GC>TT c.(1237-1242)CAGCAG>CATTAG p.413_414QQ>H* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 413_414 Spectrin 5. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACCTTATGCTGCTGATGCCTGT 0.51 NA 9 212 0 0 0.004672 0 0 OR6N1 128372 broad.mit.edu 37 1 158736290 158736290 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158736290G>T uc010piq.1 - 1 183 c.183C>A c.(181-183)CAC>CAA p.H61Q NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGCTGACAAAGTGGTACATGG 0.483 NA 24 63 4.87955e-14 6.93265e-14 0.005443 1 0 APCS 325 broad.mit.edu 37 1 159558097 159558097 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:159558097A>T uc001ftv.2 + 2 367 c.271A>T c.(271-273)AGT>TGT p.S91C NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 91 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding ovary(1)|breast(1) 2 all_hematologic(112;0.0429) TGGAGAGTATAGTCTATACAT 0.443 NA 77 73 0 0 0.00361 0 0 VANGL2 57216 broad.mit.edu 37 1 160390211 160390211 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:160390211G>T uc001fwb.1 + 6 1110 c.811G>T c.(811-813)GTG>TTG p.V271L VANGL2_uc001fwc.1_Missense_Mutation_p.V271L NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 271 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATCCAGCGCGTGGCAGTGTG 0.607 NA 33 63 5.04308e-16 7.51968e-16 0.00623 1 0 SLAMF7 57823 broad.mit.edu 37 1 160709145 160709145 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:160709145A>T uc001fwq.2 + 1 69 c.54A>T c.(52-54)ACA>ACT p.T18T SLAMF7_uc010pjn.1_Silent_p.T18T|SLAMF7_uc001fws.2_Silent_p.T18T|SLAMF7_uc001fwr.2_Silent_p.T18T|SLAMF7_uc010pjo.1_Silent_p.T18T|SLAMF7_uc010pjp.1_Silent_p.T18T|SLAMF7_uc010pjq.1_Silent_p.T18T|SLAMF7_uc010pjr.1_Silent_p.T18T NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN SLAM family member 7 18 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity skin(2)|ovary(1) 3 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGCAGCTCACAGGTGAGTCCG 0.532 NA 48 65 0 0 0.00361 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953809 161953809 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:161953809C>A uc001gbu.2 - 8 2333 c.1909G>T c.(1909-1911)GAC>TAC p.D637Y OLFML2B_uc001gbt.2_Missense_Mutation_p.D120Y|OLFML2B_uc010pkq.1_Missense_Mutation_p.D638Y NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 637 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCCTCATCGTCCAGGGCCGGG 0.637 NA 9 36 3.86212e-05 4.37978e-05 0.008291 1 0 UCK2 7371 broad.mit.edu 37 1 165876981 165876982 + Missense_Mutation DNP GG GG TT TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:165876981_165876982GG>TT uc001gdp.2 + 7 888_889 c.707_708GG>TT c.(706-708)CGG>CTT p.R236L UCK2_uc010plb.1_Missense_Mutation_p.R98L NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 236 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCCTCCAAACGGCAGACCAATG 0.619 NA 36 54 0 0 0.004672 0 0 TNR 7143 broad.mit.edu 37 1 175375584 175375584 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:175375584C>T uc001gkp.1 - 1 348 c.267G>A c.(265-267)CAG>CAA p.Q89Q TNR_uc009wwu.1_Silent_p.Q89Q|TNR_uc010pmz.1_Silent_p.Q89Q NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 89 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CACTCACCTCCTGCTCAGCAG 0.547 NA 46 46 0 0 0.011902 0 0 ASTN1 460 broad.mit.edu 37 1 176903321 176903321 + Nonsense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:176903321G>A uc001glc.2 - 16 2850 c.2638C>T c.(2638-2640)CGA>TGA p.R880* ASTN1_uc001glb.1_Nonsense_Mutation_p.R880*|ASTN1_uc001gld.1_Nonsense_Mutation_p.R880* NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 888 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AGCCAGAGTCGCCGCTGGACC 0.502 NA 5 74 0 0 0.001168 0 0 CACNA1E 777 broad.mit.edu 37 1 181727186 181727186 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:181727186C>T uc001gow.2 + 31 4598 c.4433C>T c.(4432-4434)CCG>CTG p.P1478L CACNA1E_uc009wxs.2_Missense_Mutation_p.P1366L|CACNA1E_uc001gox.1_Missense_Mutation_p.P704L|CACNA1E_uc009wxt.2_Missense_Mutation_p.P704L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1478 IV.|Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GTGGTGTCTCCGTCCTTTGAG 0.557 NA 17 60 0 0 0.00499 0 0 PTGS2 5743 broad.mit.edu 37 1 186643683 186643683 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:186643683T>G uc001gsb.2 - 10 1754 c.1617A>C c.(1615-1617)GAA>GAC p.E539D PTGS2_uc009wyo.2_Missense_Mutation_p.E386D NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 539 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAAAACCCACTTCTCCACCAA 0.443 NA 66 82 0 0 0.00361 0 0 FAM5C 339479 broad.mit.edu 37 1 190067374 190067374 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:190067374G>T uc001gse.1 - 8 2307 c.2075C>A c.(2074-2076)ACT>AAT p.T692N FAM5C_uc010pot.1_Missense_Mutation_p.T590N NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 692 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GGATCCCTGAGTATAGGGGTA 0.453 NA 28 93 7.01153e-11 9.4112e-11 0.007291 1 0 ZBTB41 360023 broad.mit.edu 37 1 197169211 197169211 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:197169211T>A uc001gtx.1 - 1 462 c.393A>T c.(391-393)GTA>GTT p.V131V ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 131 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 CTGAATGTGTTACGTGATCCA 0.353 NA 23 41 0 0 0.004656 0 0 KIF14 9928 broad.mit.edu 37 1 200587437 200587437 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:200587437C>A uc010ppk.1 - 2 854 c.415G>T c.(415-417)GAT>TAT p.D139Y KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 139 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TTGACAGAATCTATTTCAGCT 0.348 NA 38 68 1.60099e-16 2.40627e-16 0.004878 1 0 CACNA1S 779 broad.mit.edu 37 1 201061212 201061212 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:201061212G>C uc001gvv.2 - 4 656 c.429C>G c.(427-429)AAC>AAG p.N143K NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 143 Extracellular (Potential).|I. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTTGGATGACGTTAACCTGTT 0.592 NA 31 82 0 0 0.012213 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209935992 209935992 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:209935992C>A uc001hho.2 + 4 768 c.478C>A c.(478-480)CCC>ACC p.P160T TRAF3IP3_uc001hhl.2_Missense_Mutation_p.P140T|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.P160T|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.P140T|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.P160T NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 160 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CAAGAAGCCACCCAAACACCA 0.597 NA 18 21 8.34094e-07 9.85985e-07 0.008871 1 0 KCNH1 3756 broad.mit.edu 37 1 211192199 211192199 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:211192199C>A uc001hib.2 - 6 1128 c.958G>T c.(958-960)GCC>TCC p.A320S KCNH1_uc001hic.2_Intron NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 320 Extracellular (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCCATAAAGGCACTAACCTCA 0.473 NA 46 91 8.86878e-18 1.3546e-17 0.00361 1 0 USH2A 7399 broad.mit.edu 37 1 216262470 216262470 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:216262470C>T uc001hku.1 - 23 5157 c.4770G>A c.(4768-4770)GTG>GTA p.V1590V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1590 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGTTACTTCCACTGGTGACC 0.328 NA HNSCC(13;0.011) 21 83 0 0 0.002299 0 0 USH2A 7399 broad.mit.edu 37 1 216465702 216465702 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:216465702C>A uc001hku.1 - 10 2042 c.1655G>T c.(1654-1656)TGC>TTC p.C552F USH2A_uc001hkv.2_Missense_Mutation_p.C552F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 552 Laminin EGF-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGAGGCAAGCAGCGATCACA 0.363 NA HNSCC(13;0.011) 13 40 0.000151284 0.000169017 0.001855 1 0 C1orf69 200205 broad.mit.edu 37 1 228362629 228362629 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:228362629G>C uc001hsl.3 + 2 667 c.578G>C c.(577-579)CGC>CCC p.R193P C1orf69_uc010pvw.1_5'UTR NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 193 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) CGAACAGCACGCATGGGGTGG 0.692 NA 8 21 0 0 0.004482 0 0 ZP4 57829 broad.mit.edu 37 1 238053432 238053432 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:238053432C>A uc001hym.2 - 2 220 c.220G>T c.(220-222)GGC>TGC p.G74C LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 74 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATCCAGGTGCCACAGTCGGAG 0.562 NSCLC(166;160 2029 11600 18754 19936) NA 17 65 5.35267e-07 6.39771e-07 0.007413 1 0 OR2W3 343171 broad.mit.edu 37 1 248059435 248059435 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248059435G>T uc001idp.1 + 3 816 c.547G>T c.(547-549)GCC>TCC p.A183S OR2W3_uc010pzb.1_Missense_Mutation_p.A183S NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGAGATGCCCGCCCTGATCCG 0.637 NA 13 39 2.41591e-17 3.66687e-17 0.004656 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128993 248128993 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248128993G>T uc010pzd.1 + 1 360 c.360G>T c.(358-360)TTG>TTT p.L120F OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATGTGTTCTTGGCCCTTGGTG 0.443 Melanoma(45;390 1181 23848 28461 41504) NA 59 203 2.53126e-37 4.68314e-37 0.00361 1 0 OR2AK2 391191 broad.mit.edu 37 1 248129570 248129570 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248129570A>T uc010pzd.1 + 1 937 c.937A>T c.(937-939)ACG>TCG p.T313S OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TAAGGAAGTGACGGGGGCAGT 0.433 Melanoma(45;390 1181 23848 28461 41504) NA 32 38 0 0 0.010818 0 0 OR2L2 26246 broad.mit.edu 37 1 248202292 248202292 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248202292C>G uc001idw.2 + 1 819 c.723C>G c.(721-723)AGC>AGG p.S241R OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 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;0.0278) CAACCTGTAGCACCCACCTCA 0.502 NA 41 59 0 0 0.010771 0 0 TAF3 83860 broad.mit.edu 37 10 7866336 7866336 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:7866336G>T uc010qbd.1 + 2 222 c.222G>T c.(220-222)GGG>GGT p.G74G NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 74 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 AGCTGATGGGGGTTAGTCTAC 0.403 NA 62 154 5.86059e-21 9.49037e-21 0.00361 1 0 OLAH 55301 broad.mit.edu 37 10 15103797 15103797 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:15103797G>C uc001inu.2 + 4 492 c.238G>C c.(238-240)GAT>CAT p.D80H ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.D133H NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 80 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 CCAGTTAGTTGATGAAGTTGT 0.423 NA 76 150 0 0 0.00361 0 0 STAM 8027 broad.mit.edu 37 10 17737165 17737166 + Missense_Mutation DNP TA TA AT TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:17737165_17737166TA>AT uc001ipj.1 + 7 869_870 c.653_654TA>AT c.(652-654)ATA>AAT p.I218N STAM_uc010qcf.1_Missense_Mutation_p.I107N|STAM_uc009xjw.1_5'UTR NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 218 SH3. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 GTTCGTGCTATATATGACTTTG 0.366 NA 44 67 0 0 0.004672 0 0 NEBL 10529 broad.mit.edu 37 10 21158739 21158739 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:21158739T>A uc001iqi.2 - 6 909 c.512A>T c.(511-513)CAC>CTC p.H171L NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 171 Nebulin 4. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 ACTGTACGTGTGGGTGTCCTG 0.378 NA 31 95 0 0 0.002836 0 0 C10orf140 387640 broad.mit.edu 37 10 21805106 21805106 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:21805106C>A uc009xkd.2 - 4 3899 c.1646G>T c.(1645-1647)AGG>ATG p.R549M uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 468 nucleus nucleotide binding ovary(1) 1 CTCAGATACCCTATCGTTCCT 0.542 NA 26 71 3.73988e-18 5.72385e-18 0.00632 1 0 SVIL 6840 broad.mit.edu 37 10 29813491 29813491 + Silent SNP C C A rs113842540 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:29813491C>A uc001iut.1 - 14 3249 c.2496G>T c.(2494-2496)GCG>GCT p.A832A SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.A406A NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 832 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GGGTAGAAATCGCTTTTGAGA 0.507 NA 48 80 4.01344e-20 6.43004e-20 0.00361 1 0 ZNF438 220929 broad.mit.edu 37 10 31138643 31138643 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:31138643G>T uc010qdz.1 - 7 1126 c.691C>A c.(691-693)CAG>AAG p.Q231K ZNF438_uc001ivn.2_Missense_Mutation_p.Q182K|ZNF438_uc010qdy.1_Missense_Mutation_p.Q221K|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.Q231K|ZNF438_uc001ivp.3_Missense_Mutation_p.Q221K|ZNF438_uc010qea.1_Missense_Mutation_p.Q231K|ZNF438_uc010qeb.1_Missense_Mutation_p.Q231K|ZNF438_uc010qec.1_Intron NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) GTGAGGTCCTGCTTGGCAGGC 0.488 NA 61 115 1.12612e-26 1.9272e-26 0.00361 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 NA 5 60 0 0 0.000602 0 0 OGDHL 55753 broad.mit.edu 37 10 50958893 50958893 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:50958893C>G uc001jie.2 - 7 1030 c.888G>C c.(886-888)ATG>ATC p.M296I OGDHL_uc009xog.2_Missense_Mutation_p.M323I|OGDHL_uc010qgt.1_Missense_Mutation_p.M239I|OGDHL_uc010qgu.1_Missense_Mutation_p.M87I|OGDHL_uc009xoh.2_Missense_Mutation_p.M87I NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 296 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 ACCTGTGTGGCATCCCCAAGA 0.572 NA 3 19 0 0 0.009096 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458690 53458690 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:53458690G>A uc001jjp.2 - 1 666 c.620C>T c.(619-621)TCT>TTT p.S207F PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 207 mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GACAGACACAGACTGAGATTT 0.428 NA 19 23 0 0 0.006122 0 0 HERC4 26091 broad.mit.edu 37 10 69700696 69700696 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:69700696C>A uc001jng.3 - 21 2839 c.2528G>T c.(2527-2529)AGA>ATA p.R843I HERC4_uc009xpq.2_Missense_Mutation_p.S376I|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.R835I|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.R579I NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 843 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 TCCAACTAACCTCCCAACATC 0.358 NA 40 81 2.45108e-15 3.57686e-15 0.00874 1 0 C10orf27 219793 broad.mit.edu 37 10 72539382 72539382 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:72539382G>A uc001jrj.1 - 5 784 c.394C>T c.(394-396)CCA>TCA p.P132S C10orf27_uc010qjm.1_Missense_Mutation_p.P132S|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.P132S|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.P121S|C10orf27_uc009xqj.1_Silent_p.T126T|C10orf27_uc010qjp.1_Missense_Mutation_p.P121S NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph 132 cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 TTAGACTGTGGGTCTCCAATG 0.572 NA 7 44 0 0 0.001984 0 0 BTAF1 9044 broad.mit.edu 37 10 93776187 93776187 + Nonsense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:93776187A>T uc001khr.2 + 33 4773 c.4675A>T c.(4675-4677)AAA>TAA p.K1559* NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1559 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) AGAAACTGAAAAACCAAAGCT 0.294 NA 13 49 0 0 0.001855 0 0 PLCE1 51196 broad.mit.edu 37 10 96018635 96018635 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:96018635C>A uc001kjk.2 + 12 4267 c.3633C>A c.(3631-3633)AGC>AGA p.S1211R PLCE1_uc010qnx.1_Missense_Mutation_p.S1195R|PLCE1_uc001kjm.2_Missense_Mutation_p.S903R NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1211 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TTTCAGATAGCAACATGAGTT 0.443 NA 14 56 0.000219431 0.000243346 0.00245 1 0 NOLC1 9221 broad.mit.edu 37 10 103919024 103919024 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:103919024G>T uc001kuo.2 + 6 917 c.682G>T c.(682-684)GAT>TAT p.D228Y NOLC1_uc001kup.2_Missense_Mutation_p.D228Y|NOLC1_uc001kuq.2_Missense_Mutation_p.D229Y|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 228 11 X 12 AA approximate repeats of an acidic serine cluster.|Acidic serine cluster 4.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) cagtagcagTGATGACTCAGA 0.398 NA 44 59 7.53189e-24 1.26314e-23 0.007835 1 0 NFKB2 4791 broad.mit.edu 37 10 104157797 104157797 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:104157797C>T uc001kvb.2 + 9 986 c.721C>T c.(721-723)CGG>TGG p.R241W NFKB2_uc001kva.2_Missense_Mutation_p.R241W|NFKB2_uc010qqk.1_Missense_Mutation_p.R241W|NFKB2_uc001kvd.2_Missense_Mutation_p.R241W|NFKB2_uc009xxc.2_Missense_Mutation_p.R241W NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 241 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) AGGCTCTGTGCGGGGTGGAGA 0.498 NA T IGH@ B-NHL 9 133 0 0 0.008291 0 0 SORCS3 22986 broad.mit.edu 37 10 106907476 106907476 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:106907476G>A uc001kyi.1 + 9 1631 c.1404G>A c.(1402-1404)GGG>GGA p.G468G NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 468 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) ACACGCGTGGGATTTACTTCA 0.448 NSCLC(116;1497 1690 7108 13108 14106) NA 14 59 0 0 0.004007 0 0 SORCS1 114815 broad.mit.edu 37 10 108923816 108923816 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:108923816C>G uc001kym.2 - 1 477 c.469G>C c.(469-471)GAG>CAG p.E157Q SORCS1_uc001kyl.2_Missense_Mutation_p.E157Q|SORCS1_uc009xxs.2_Missense_Mutation_p.E157Q|SORCS1_uc001kyn.1_Missense_Mutation_p.E157Q|SORCS1_uc001kyo.2_Missense_Mutation_p.E157Q NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 157 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGTCTCAGCTCCTCCATCCGG 0.637 NA 12 39 0 0 0.010729 0 0 SLC18A2 6571 broad.mit.edu 37 10 119017345 119017345 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:119017345G>T uc001ldd.1 + 10 964 c.933G>T c.(931-933)CTG>CTT p.L311L SLC18A2_uc009xyy.1_Silent_p.L108L NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 311 Helical; (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TCGCCATGCTGGAGCCAGCCC 0.542 NA 13 20 0.00010058 0.000112536 0.001368 1 0 PDZD8 118987 broad.mit.edu 37 10 119044378 119044378 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:119044378C>A uc001lde.1 - 5 2065 c.1866G>T c.(1864-1866)GTG>GTT p.V622V NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 622 Pro-rich. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GAGGTGGCACCACCTTCTCTG 0.483 NA 23 81 1.96895e-08 2.44253e-08 0.00278 1 0 HMX2 3167 broad.mit.edu 37 10 124909093 124909093 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:124909093C>A uc001lhc.1 + 2 533 c.276C>A c.(274-276)CCC>CCA p.P92P NM_005519 NP_005510 A2RU54 HMX2_HUMAN H6 family homeobox 2 92 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) CAGGTACCCCCAAGGGCAGCG 0.642 NA 15 46 6.94344e-10 9.0145e-10 0.006122 1 0 DPYSL4 10570 broad.mit.edu 37 10 134006275 134006275 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:134006275T>A uc009ybb.2 + 3 396 c.242T>A c.(241-243)CTG>CAG p.L81Q NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 81 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ATGCCTGTCCTGGGCATGACA 0.602 NA 17 48 0 0 0.008871 0 0 KNDC1 85442 broad.mit.edu 37 10 134999589 134999589 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:134999589C>T uc001llz.1 + 6 738 c.737C>T c.(736-738)CCG>CTG p.P246L KNDC1_uc001lma.1_Missense_Mutation_p.P181L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 246 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCCGAAGGCCCGGAGTCTGAG 0.721 NA 3 10 0 0 0.004672 0 0 FRG2B 441581 broad.mit.edu 37 10 135438789 135438789 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:135438789C>T uc010qvg.1 - 4 704 c.651G>A c.(649-651)CTG>CTA p.L217L NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 217 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CCTGGGCACACAGAGGCCCCC 0.597 NA 5 35 0 0 0.008291 0 0 MUC2 4583 broad.mit.edu 37 11 1104231 1104231 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:1104231C>T uc001lsx.1 + 52 15535 c.15508C>T c.(15508-15510)CGG>TGG p.R5170W NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 5170 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCGCCGGGCCCGGCGCTCCCC 0.706 NA 3 12 0 0 0.009096 0 0 MUC5B 727897 broad.mit.edu 37 11 1269245 1269245 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:1269245C>A uc009ycr.1 + 50 12845 c.12719C>A c.(12718-12720)CCG>CAG p.P4240Q MUC5B_uc001ltb.2_Missense_Mutation_p.P3715Q NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3712 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. 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) ACGGCCACCCCGTCCTCCACC 0.657 NA 34 67 4.64027e-19 7.29461e-19 0.00361 1 0 OR52K2 119774 broad.mit.edu 37 11 4471398 4471398 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:4471398C>A uc001lyz.1 + 1 829 c.829C>A c.(829-831)CTC>ATC p.L277I NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTCCACATCCTCCTTGCCAA 0.498 NA 68 83 5.41795e-27 9.33574e-27 0.00361 1 0 OR51F2 119694 broad.mit.edu 37 11 4843368 4843368 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:4843368C>A uc010qyn.1 + 1 753 c.753C>A c.(751-753)GCC>GCA p.A251A NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 251 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCGGAAAGCCTTCAACACCT 0.502 NA 20 49 9.7654e-05 0.000109916 0.007413 1 0 OR52A4 390053 broad.mit.edu 37 11 5142424 5142424 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:5142424C>A uc001lzz.1 - 1 385 c.385G>T c.(385-387)GCG>TCG p.A129S OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TAACAGATCGCTACACAGCGG 0.468 NA 9 25 0.00448238 0.00476055 0.004482 1 0 OR52A5 390054 broad.mit.edu 37 11 5153746 5153746 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:5153746C>T uc010qyx.1 - 1 127 c.127G>A c.(127-129)GGA>AGA p.G43R NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G43E(1) skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGGAATTTCCAATCACACCA 0.403 NA 26 42 0 0 0.00333 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444219 5444219 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:5444219T>A uc010qzd.1 + 1 789 c.789T>A c.(787-789)ACT>ACA p.T263T 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, 263 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) TATCTATGACTCATCGCTTTG 0.527 NA 55 52 0 0 0.00361 0 0 OR56A1 120796 broad.mit.edu 37 11 6048764 6048764 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:6048764C>A uc010qzw.1 - 1 171 c.171G>T c.(169-171)CAG>CAT p.Q57H NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCCTCCAGCTGGATGGTGA 0.622 NA 28 22 3.80469e-20 6.1086e-20 0.009535 1 0 ZNF214 7761 broad.mit.edu 37 11 7022736 7022736 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7022736C>A uc001mfa.2 - 3 481 c.178G>T c.(178-180)GAA>TAA p.E60* ZNF214_uc010ray.1_Nonsense_Mutation_p.E60*|ZNF214_uc009yfh.1_Nonsense_Mutation_p.E60* NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TTTTCATATTCTAAGTATCTG 0.378 Ovarian(22;251 657 736 21522 46864) NA 30 108 4.22769e-11 5.70511e-11 0.00632 1 0 RBMXL2 27288 broad.mit.edu 37 11 7111241 7111242 + Missense_Mutation DNP GG GG TT TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7111241_7111242GG>TT uc001mfc.2 + 1 1077_1078 c.890_891GG>TT c.(889-891)GGG>GTT p.G297V NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 297 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCAGGACGGGGGACACCGCCAT 0.658 NA 12 9 0 0 0.004672 0 0 SYT9 143425 broad.mit.edu 37 11 7335047 7335047 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7335047G>T uc001mfe.2 + 3 1156 c.919G>T c.(919-921)GTG>TTG p.V307L SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 307 Cytoplasmic (Potential).|C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCACTTCTCTGTGTACGACTT 0.468 NA 113 140 2.73796e-65 5.34116e-65 0.00361 1 0 OR5P2 120065 broad.mit.edu 37 11 7818288 7818288 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7818288C>A uc001mfp.1 - 1 202 c.202G>T c.(202-204)GCC>TCC p.A68S NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GATGAATAGGCCATGTCAGCA 0.438 NA 53 59 2.17126e-26 3.70738e-26 0.00361 1 0 INSC 387755 broad.mit.edu 37 11 15197461 15197461 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:15197461G>T uc001mly.2 + 3 418 c.372G>T c.(370-372)CTG>CTT p.L124L INSC_uc001mlz.2_Silent_p.L77L|INSC_uc001mma.2_Silent_p.L77L|INSC_uc010rcs.1_Silent_p.L77L|INSC_uc001mmb.2_Silent_p.L77L|INSC_uc001mmc.2_Silent_p.L77L NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 124 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TGCAGCTGCTGCTCAAACGGG 0.647 NA 13 13 3.27435e-08 4.01561e-08 0.00245 1 0 SLC6A5 9152 broad.mit.edu 37 11 20668432 20668432 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:20668432C>A uc001mqd.2 + 14 2295 c.2022C>A c.(2020-2022)AAC>AAA p.N674K SLC6A5_uc009yic.2_Missense_Mutation_p.N439K NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 674 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TCCAGCCTAACATCTTCTGGA 0.428 NA 31 38 2.47316e-13 3.47442e-13 0.003271 1 0 NELL1 4745 broad.mit.edu 37 11 20950015 20950015 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:20950015G>T uc001mqe.2 + 9 1140 c.987G>T c.(985-987)AAG>AAT p.K329N NELL1_uc001mqf.2_Missense_Mutation_p.K329N|NELL1_uc009yid.2_Missense_Mutation_p.K357N|NELL1_uc010rdo.1_Missense_Mutation_p.K272N|NELL1_uc010rdp.1_Missense_Mutation_p.K89N NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 329 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AGTGCTGTAAGGTCTGCCGAC 0.498 NA 27 34 2.4375e-19 3.85596e-19 0.007291 1 0 LUZP2 338645 broad.mit.edu 37 11 24927594 24927594 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:24927594G>T uc001mqs.2 + 6 688 c.454G>T c.(454-456)GAA>TAA p.E152* LUZP2_uc009yif.2_Nonsense_Mutation_p.E66*|LUZP2_uc009yig.2_Intron NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 152 Potential. extracellular region ovary(1)|skin(1) 2 CATTCACGCAGAAGAGGTGAG 0.338 NA 13 21 9.31168e-06 1.07212e-05 0.001855 1 0 RAG1 5896 broad.mit.edu 37 11 36597180 36597180 + Silent SNP C C A rs121918572 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:36597180C>A uc001mwu.3 + 2 2450 c.2326C>A c.(2326-2328)CGG>AGG p.R776R RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 776 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GGAAGAACTGCGGGATCGGGT 0.483 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 16 60 2.23348e-06 2.60343e-06 0.004007 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136851 40136851 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:40136851T>C uc001mxa.1 - 2 2956 c.992A>G c.(991-993)AAC>AGC p.N331S LRRC4C_uc001mxc.1_Missense_Mutation_p.N327S|LRRC4C_uc001mxd.1_Missense_Mutation_p.N327S|LRRC4C_uc001mxb.1_Missense_Mutation_p.N327S NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 331 LRRCT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GGGAGGAGTGTTACACCGGGC 0.507 NA 17 19 0 0 0.004007 0 0 OR4C46 119749 broad.mit.edu 37 11 51515433 51515433 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:51515433C>A uc010ric.1 + 1 152 c.152C>A c.(151-153)CCA>CAA p.P51Q NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 51 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACTGCCAGCCCATCACTGGGG 0.448 NA 86 107 1.55023e-36 2.84021e-36 0.00361 1 0 OR5B12 390191 broad.mit.edu 37 11 58206722 58206722 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:58206722C>A uc010rkh.1 - 1 903 c.903G>T c.(901-903)AAG>AAT p.K301N NM_001004733 NP_001004733 Q96R08 OR5BC_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) TCCCTACAGTCTTTTTAAAGG 0.338 NA 22 31 1.9806e-07 2.39389e-07 0.002299 1 0 CPSF7 79869 broad.mit.edu 37 11 61183865 61183865 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:61183865T>C uc001nrq.2 - 6 811 c.677A>G c.(676-678)AAT>AGT p.N226S CPSF7_uc001nro.2_Missense_Mutation_p.N217S|CPSF7_uc001nrp.2_Missense_Mutation_p.N269S|CPSF7_uc001nrr.2_Missense_Mutation_p.N217S|CPSF7_uc001nrs.1_Missense_Mutation_p.N127S NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 226 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 AGGAGGACGATTGAAGTAGGG 0.592 NA 46 68 0 0 0.00361 0 0 SLC22A12 116085 broad.mit.edu 37 11 64366303 64366303 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:64366303G>A uc001oam.1 + 6 1725 c.978G>A c.(976-978)GAG>GAA p.E326E SLC22A12_uc009ypr.1_Silent_p.E351E|SLC22A12_uc001oal.1_Silent_p.E105E|SLC22A12_uc009yps.1_Silent_p.E292E|SLC22A12_uc001oan.1_Silent_p.E218E|SLC22A12_uc009ypt.2_Silent_p.E144E NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 326 Missing (affects urate transport). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 CCATGCGGGAGGAGCTGAGCA 0.662 NA 9 44 0 0 0.008291 0 0 NRXN2 9379 broad.mit.edu 37 11 64390268 64390268 + Missense_Mutation SNP G G T rs144512935 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:64390268G>T uc001oap.2 - 6 1503 c.992C>A c.(991-993)ACG>AAG p.T331K NRXN2_uc001oar.2_Missense_Mutation_p.T1377K|NRXN2_uc001oas.2_Missense_Mutation_p.T1307K|NRXN2_uc001oao.2_Missense_Mutation_p.T17K|NRXN2_uc001oaq.2_Missense_Mutation_p.T1044K NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 331 Poly-Thr.|Extracellular (Potential). cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GCCCCGGCGCgtggtggtagt 0.527 NA 7 29 0.000157383 0.000175051 0.00308 1 0 SPTBN2 6712 broad.mit.edu 37 11 66472300 66472300 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:66472300G>T uc001ojd.2 - 14 2519 c.2447C>A c.(2446-2448)ACA>AAA p.T816K NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 816 Spectrin 5. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GCGGCTCAGTGTGGGGGGCAG 0.716 NA 13 19 0.00010058 0.000112536 0.001368 1 0 DHCR7 1717 broad.mit.edu 37 11 71146589 71146589 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:71146589C>A uc001oqk.2 - 9 1510 c.1260G>T c.(1258-1260)CTG>CTT p.L420L DHCR7_uc001oql.2_Silent_p.L420L NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 420 Helical; (Potential). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) CGCCACAGGCCAGGCAGTAGG 0.672 NA Smith-Lemli-Opitz_syndrome 10 21 0.000673444 0.000732808 0.008291 1 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293805 71293805 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:71293805C>A uc001oqu.2 - 1 117 c.79G>T c.(79-81)GGC>TGC p.G27C NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 27 keratin filament 0 CCCCCACAGCCAGAGCCACAG 0.642 NA 33 43 2.46105e-21 4.0199e-21 0.010818 1 0 USP35 57558 broad.mit.edu 37 11 77916913 77916913 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:77916913G>A uc009yva.1 + 7 1469 c.1223G>A c.(1222-1224)CGC>CAC p.R408H USP35_uc001oze.2_Missense_Mutation_p.R164H|USP35_uc001ozc.2_5'UTR|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.A18T|USP35_uc001ozf.2_Missense_Mutation_p.R139H NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 408 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AATGAGGACCGCATCAAGCAG 0.582 NA 4 133 0 0 0.009096 0 0 RAB30 27314 broad.mit.edu 37 11 82698724 82698724 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:82698724T>C uc001ozu.2 - 5 527 c.266A>G c.(265-267)TAT>TGT p.Y89C RAB30_uc009yve.2_Missense_Mutation_p.Y87C|RAB30_uc010rst.1_Missense_Mutation_p.Y87C|RAB30_uc001ozv.2_Missense_Mutation_p.Y87C|RAB30_uc009yvg.1_Missense_Mutation_p.Y59C NM_014488 NP_055303 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 89 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity 0 GGTAATGTCATAGGTGAGGAT 0.493 NA 34 47 0 0 0.012213 0 0 FAT3 120114 broad.mit.edu 37 11 92086050 92086050 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:92086050C>A uc001pdj.3 + 1 789 c.772C>A c.(772-774)CGC>AGC p.R258S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 258 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCACATTGAGCGCATAAATGA 0.428 NA TCGA Ovarian(4;0.039) 65 78 1.50372e-20 2.42463e-20 0.00361 1 0 ATM 472 broad.mit.edu 37 11 108183154 108183154 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:108183154G>T uc001pkb.1 + 40 6320 c.5935G>T c.(5935-5937)GAA>TAA p.E1979* ATM_uc009yxr.1_Nonsense_Mutation_p.E1979*|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E631*|ATM_uc001pkg.1_Nonsense_Mutation_p.E336*|ATM_uc009yxt.1_Nonsense_Mutation_p.E93* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1979 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGCATTTGAAGAAGGAAGCCA 0.318 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 17 80 2.54575e-18 3.91214e-18 0.010504 1 0 ATM 472 broad.mit.edu 37 11 108205768 108205768 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:108205768G>A uc001pkb.1 + 55 8468 c.8083G>A c.(8083-8085)GGT>AGT p.G2695S ATM_uc009yxr.1_Missense_Mutation_p.G2695S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.G1347S NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2695 G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.G2695A(2) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTAGCAGGAGGTGTAAATTT 0.398 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 28 36 0 0 0.005443 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110461533 110461533 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:110461533C>G uc001pkz.1 - 12 1429 c.1144G>C c.(1144-1146)GAT>CAT p.D382H ARHGAP20_uc001pky.1_Missense_Mutation_p.D359H|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D346H|ARHGAP20_uc001pla.1_Missense_Mutation_p.D346H|ARHGAP20_uc001plb.2_5'Flank NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 382 Rho-GAP. 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) AAAAGCATATCCTATGGGGAA 0.423 NA 21 24 0 0 0.002299 0 0 TTC12 54970 broad.mit.edu 37 11 113235676 113235676 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:113235676G>C uc001pnu.2 + 21 2041 c.1936G>C c.(1936-1938)GAC>CAC p.D646H TTC12_uc001pnv.2_Missense_Mutation_p.D652H|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.D496H NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 646 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GCTAAAGACGGACCTTTTGCA 0.577 NA 16 44 0 0 0.003163 0 0 TRIM29 23650 broad.mit.edu 37 11 119996462 119996462 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:119996462C>A uc001pwz.2 - 4 1394 c.1270G>T c.(1270-1272)GTT>TTT p.V424F TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.V163F|TRIM29_uc010rzj.1_Missense_Mutation_p.V157F|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 424 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) ATCTTCTCAACGTGGCGCATG 0.592 NA 17 28 2.48551e-13 3.47878e-13 0.00499 1 0 ROBO4 54538 broad.mit.edu 37 11 124756669 124756669 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:124756669C>A uc001qbg.2 - 16 2625 c.2485G>T c.(2485-2487)GGG>TGG p.G829W ROBO4_uc010sas.1_Missense_Mutation_p.G684W|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.G387W NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 829 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 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;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTGATGTACCCATAGGTGGTG 0.617 NA 13 52 4.7546e-09 6.00708e-09 0.004007 1 0 PKNOX2 63876 broad.mit.edu 37 11 125255501 125255501 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:125255501C>A uc001qbu.2 + 6 596 c.282C>A c.(280-282)ACC>ACA p.T94T PKNOX2_uc010saz.1_Silent_p.T65T|PKNOX2_uc010sba.1_Silent_p.T65T|PKNOX2_uc010sbb.1_Silent_p.T30T NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 94 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AACAGGCCACCCAGGGCTCTG 0.557 NA 10 50 0.00136819 0.00146969 0.001368 1 0 ADIPOR2 79602 broad.mit.edu 37 12 1895226 1895226 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:1895226G>T uc001qjm.2 + 8 1346 c.1149G>T c.(1147-1149)GAG>GAT p.E383D ADIPOR2_uc001qjn.2_Missense_Mutation_p.E383D NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 383 Extracellular (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GCAGTGAAGAGGATGCACTGT 0.537 NA 27 65 1.42536e-11 1.93386e-11 0.004656 1 0 CACNA2D4 93589 broad.mit.edu 37 12 2016649 2016649 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:2016649C>T uc001qjp.2 - 6 969 c.738G>A c.(736-738)TGG>TGA p.W246* CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.W246* NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 246 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAAAATATTGCCAGGTCAACG 0.458 Colon(2;101 179 21030 23310 28141) NA 14 11 0 0 0.001855 0 0 FGF23 8074 broad.mit.edu 37 12 4479725 4479725 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:4479725G>T uc001qmq.1 - 3 686 c.540C>A c.(538-540)AGC>AGA p.S180R NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 180 Cleavage; by proprotein convertases. cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CGTCCTCGGCGCTCCGGGTGT 0.687 NA 11 30 4.93089e-13 6.87585e-13 0.00245 1 0 CHD4 1108 broad.mit.edu 37 12 6702648 6702648 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:6702648G>C uc001qpo.2 - 16 2612 c.2448C>G c.(2446-2448)ATC>ATG p.I816M CHD4_uc001qpn.2_Missense_Mutation_p.I809M|CHD4_uc001qpp.2_Missense_Mutation_p.I813M NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 816 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CATTCTCTCGGATGATGGCAC 0.517 Colon(32;586 792 4568 16848 45314) NA 43 70 0 0 0.009718 0 0 KLRF1 51348 broad.mit.edu 37 12 9997030 9997030 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:9997030G>T uc010sgw.1 + 7 665 c.601G>T c.(601-603)GGA>TGA p.G201* KLRF1_uc009zgw.2_Nonsense_Mutation_p.G152*|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_3'UTR|KLRF1_uc009zha.2_RNA NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 202 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 CTTCATAAAGGGACCAGCTAA 0.348 NA 8 26 5.4927e-09 6.9164e-09 0.004482 1 0 GRIN2B 2904 broad.mit.edu 37 12 13724849 13724849 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:13724849G>T uc001rbt.2 - 10 2239 c.2060C>A c.(2059-2061)CCC>CAC p.P687H NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 687 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCTGCCGTTGGGCACGGTCCC 0.378 NA 13 36 1.61879e-10 2.14227e-10 0.001368 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21032388 21032388 + Missense_Mutation SNP C C G rs138702607 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:21032388C>G uc001rek.2 + 10 1280 c.1154C>G c.(1153-1155)ACG>AGG p.T385R SLCO1B3_uc001rel.2_Missense_Mutation_p.T385R|SLCO1B3_uc010sil.1_Missense_Mutation_p.T385R|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.T210R NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 385 Helical; Name=8; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) ACCATTCCTACGGTTGCAACT 0.274 NA 9 43 0 0 0.006214 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21229503 21229503 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:21229503G>T uc010sil.1 + 15 2113 c.2048G>T c.(2047-2049)GGA>GTA p.G683V LST-3TM12_uc010sim.1_Missense_Mutation_p.G622V|LST-3TM12_uc010sin.1_Missense_Mutation_p.G575V Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) ACATATTTGGGGTAAGTTGTC 0.299 NA 30 45 2.47511e-08 3.06035e-08 0.008361 1 0 KCNJ8 3764 broad.mit.edu 37 12 21919111 21919111 + Missense_Mutation SNP C C T rs149127157 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:21919111C>T uc001rff.2 - 3 1159 c.821G>A c.(820-822)CGC>CAC p.R274H NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 274 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) CAGGGGACTGCGCTTGTCAAT 0.473 NA 6 21 0 0 0.001168 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 17 21 1.96292e-10 2.59312e-10 0.010504 1 0 TMTC1 83857 broad.mit.edu 37 12 29669326 29669326 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:29669326G>T uc001rjb.2 - 15 2413 c.1939C>A c.(1939-1941)CGC>AGC p.R647S TMTC1_uc001riz.2_Missense_Mutation_p.R404S|TMTC1_uc001rja.2_Missense_Mutation_p.R491S|TMTC1_uc001riy.2_Missense_Mutation_p.R100S NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 755 TPR 8. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GACAAGAGGCGATAGCATTCA 0.453 NA 31 72 2.70662e-09 3.46025e-09 0.009535 1 0 TMTC1 83857 broad.mit.edu 37 12 29904683 29904683 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:29904683C>T uc001rjb.2 - 5 1004 c.530G>A c.(529-531)TGG>TAG p.W177* TMTC1_uc001rjc.1_Nonsense_Mutation_p.W177* NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 285 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GCAGCCACCCCAAGCTCCTTT 0.507 NA 16 39 0 0 0.00499 0 0 IPO8 10526 broad.mit.edu 37 12 30816432 30816432 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:30816432G>C uc001rjd.2 - 14 1755 c.1585C>G c.(1585-1587)CAG>GAG p.Q529E IPO8_uc001rje.1_Missense_Mutation_p.Q18E|IPO8_uc010sjt.1_Missense_Mutation_p.Q324E NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 529 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCTTGTATCTGGTTAGAAATT 0.378 NA 6 68 0 0 0.001168 0 0 DENND5B 160518 broad.mit.edu 37 12 31576610 31576610 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:31576610C>A uc001rki.1 - 11 2578 c.2392_splice c.e11-1 p.G798_splice DENND5B_uc001rkh.1_Splice_Site_p.G833_splice|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B integral to membrane ovary(1)|central_nervous_system(1) 2 CCGACTTCCCCTGAAAGTACA 0.343 NA 89 110 1.10192e-24 1.8688e-24 0.00361 1 0 H3F3C 440093 broad.mit.edu 37 12 31944715 31944715 + Missense_Mutation SNP C C A rs147097287 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:31944715C>A uc001rkr.2 - 1 461 c.386G>T c.(385-387)CGG>CTG p.R129L NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 129 nucleosome assembly nucleosome|nucleus DNA binding 0 TCCCCGTATCCGGCGAGCCAA 0.438 NA HNSCC(67;0.2) 93 92 1.02827e-36 1.89313e-36 0.00361 1 0 ABCD2 225 broad.mit.edu 37 12 39967542 39967542 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:39967542G>T uc001rmb.2 - 9 2405 c.1979C>A c.(1978-1980)TCT>TAT p.S660Y NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 660 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 GTGTGTTATAGACAGTAAGGA 0.368 NA 36 46 2.87052e-16 4.29722e-16 0.005524 1 0 CNTN1 1272 broad.mit.edu 37 12 41337488 41337488 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:41337488G>T uc001rmm.1 + 13 1582 c.1469G>T c.(1468-1470)AGA>ATA p.R490I CNTN1_uc009zjy.1_Missense_Mutation_p.R490I|CNTN1_uc001rmn.1_Missense_Mutation_p.R479I|CNTN1_uc001rmo.2_Missense_Mutation_p.R490I NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 490 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAAAATAACAGAGGGAAAGCT 0.348 NA 24 61 4.26978e-12 5.84571e-12 0.00333 1 0 CNTN1 1272 broad.mit.edu 37 12 41410654 41410654 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:41410654G>T uc001rmm.1 + 19 2468 c.2355G>T c.(2353-2355)AAG>AAT p.K785N CNTN1_uc001rmn.1_Missense_Mutation_p.K774N NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 785 Fibronectin type-III 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTAAAGTCAAGGCCTTCAACA 0.423 NA 27 87 2.85442e-18 4.37755e-18 0.010818 1 0 DBX2 440097 broad.mit.edu 37 12 45429822 45429822 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:45429822G>T uc001rok.1 - 2 651 c.479C>A c.(478-480)GCA>GAA p.A160E NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 160 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) agtggaggatgcagggcgccg 0.119 NA 14 14 4.75885e-15 6.86478e-15 0.00499 1 0 KRT84 3890 broad.mit.edu 37 12 52778922 52778922 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:52778922G>A uc001sah.1 - 1 496 c.448C>T c.(448-450)CTC>TTC p.L150F NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 150 Head. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TCCAGGTTGAGGGGGGTCAGT 0.527 NA 18 307 0 0 0.008871 0 0 KRT5 3852 broad.mit.edu 37 12 52908997 52908997 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:52908997C>A uc001san.2 - 9 1665 c.1502G>T c.(1501-1503)GGA>GTA p.G501V NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 501 Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) actgccATATCCAGAGGAAAC 0.264 NA 10 35 0.00829132 0.00875647 0.008291 1 0 SOAT2 8435 broad.mit.edu 37 12 53514665 53514665 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:53514665C>A uc001sbv.2 + 11 1223 c.1135C>A c.(1135-1137)CGG>AGG p.R379R SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 379 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 GATGTTCTACCGGGTGGGGCC 0.557 NA 45 66 1.35964e-18 2.1153e-18 0.00361 1 0 GPR84 53831 broad.mit.edu 37 12 54757386 54757386 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:54757386G>T uc001sfu.2 - 2 340 c.250C>A c.(250-252)CTG>ATG p.L84M NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 84 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity breast(2) 2 CGCCAGTGCAGGTGGAGGTAG 0.582 NA 11 25 0.000978159 0.00105979 0.010729 1 0 TIMELESS 8914 broad.mit.edu 37 12 56814763 56814763 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:56814763T>A uc001slf.2 - 24 3192 c.3024A>T c.(3022-3024)CAA>CAT p.Q1008H NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 1008 Q -> E (in a breast cancer sample; somatic mutation). cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin p.Q1008E(1) ovary(5)|breast(2)|pancreas(1) 8 GATGCAGGCTTTGACCAAGGT 0.498 NA 35 101 0 0 0.005524 0 0 PTPRB 5787 broad.mit.edu 37 12 70974892 70974892 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:70974892G>A uc001swb.3 - 8 1878 c.1848C>T c.(1846-1848)GGC>GGT p.G616G PTPRB_uc010sto.1_Silent_p.G616G|PTPRB_uc010stp.1_Silent_p.G526G|PTPRB_uc001swc.3_Silent_p.G834G|PTPRB_uc001swa.3_Silent_p.G834G|PTPRB_uc001swd.3_Silent_p.G833G|PTPRB_uc009zrr.1_Silent_p.G713G NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 616 Fibronectin type-III 7.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGTACAGGCTGCCGGACTTGA 0.458 NA 70 85 0 0 0.00361 0 0 PTPRB 5787 broad.mit.edu 37 12 70983910 70983910 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:70983910G>T uc001swb.3 - 6 1260 c.1230C>A c.(1228-1230)ATC>ATA p.I410I PTPRB_uc010sto.1_Silent_p.I410I|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Silent_p.I628I|PTPRB_uc001swa.3_Silent_p.I628I|PTPRB_uc001swd.3_Silent_p.I627I|PTPRB_uc009zrr.1_Silent_p.I507I NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 410 Fibronectin type-III 5.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAAGAGTAGGATCCGATACT 0.512 NA OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 80 1.31131e-34 2.38505e-34 0.013114 1 0 NAV3 89795 broad.mit.edu 37 12 78579461 78579461 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:78579461G>T uc001syp.2 + 31 5946 c.5773G>T c.(5773-5775)GGC>TGC p.G1925C NAV3_uc001syo.2_Missense_Mutation_p.G1903C|NAV3_uc010sub.1_Missense_Mutation_p.G1382C|NAV3_uc009zsf.2_Missense_Mutation_p.G734C NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1925 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CATAAGCAAGGGCTATGGTCG 0.333 NA HNSCC(70;0.22) 12 28 2.27111e-07 2.74062e-07 0.001368 1 0 MYF6 4618 broad.mit.edu 37 12 81102680 81102680 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:81102680G>T uc001szf.1 + 3 723 c.670G>T c.(670-672)GAC>TAC p.D224Y NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 224 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 TTCCATCGTGGACAGTATTTC 0.512 NA 38 86 1.47244e-24 2.49157e-24 0.00623 1 0 LUM 4060 broad.mit.edu 37 12 91502248 91502248 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:91502248C>A uc001tbm.2 - 2 898 c.509G>T c.(508-510)CGG>CTG p.R170L LUM_uc001tbn.2_Intron NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 170 LRR 5. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 CTCTTTCAGCCGATTGTGCTG 0.443 NA 28 109 5.61819e-17 8.47795e-17 0.005443 1 0 FAM71C 196472 broad.mit.edu 37 12 100042084 100042084 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:100042084C>A uc001tgn.2 + 1 554 c.132C>A c.(130-132)CCC>CCA p.P44P ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN hypothetical protein LOC196472 44 0 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) GGTATGCACCCATGTTTGAGA 0.522 NA 12 89 0.00136819 0.00146969 0.001368 1 0 GOLGA2B 55592 broad.mit.edu 37 12 100551393 100551393 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:100551393C>A uc001tgs.2 - 4 647 c.203G>T c.(202-204)AGG>ATG p.R68M GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R68M|uc001tgx.2_5'Flank NM_017600 NP_060070 golgi autoantigen, golgin subfamily a, 2-like 1 0 GGGCTGCTGCCTCAGGTTCCT 0.647 NA 28 37 1.50538e-07 1.82243e-07 0.00632 1 0 UTP20 27340 broad.mit.edu 37 12 101689353 101689353 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:101689353C>A uc001tia.1 + 12 1503 c.1347C>A c.(1345-1347)CTC>CTA p.L449L NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 449 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 TGGCCAAGCTCATTCTGAACA 0.433 NA 12 43 2.80697e-09 3.5764e-09 0.010729 1 0 SYCP3 50511 broad.mit.edu 37 12 102131607 102131607 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:102131607C>G uc001tiq.2 - 2 239 c.107G>C c.(106-108)AGT>ACT p.S36T SYCP3_uc001tir.2_Missense_Mutation_p.S36T|SYCP3_uc001tis.2_Missense_Mutation_p.S36T NM_153694 NP_710161 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 36 cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding 0 CTCTGATCCACTCAGATCTTT 0.423 NA 10 200 0 0 0.008291 0 0 BTBD11 121551 broad.mit.edu 37 12 108010922 108010922 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:108010922C>A uc001tmk.1 + 8 2579 c.2058C>A c.(2056-2058)AAC>AAA p.N686K BTBD11_uc009zut.1_Missense_Mutation_p.N686K|BTBD11_uc001tmj.2_Missense_Mutation_p.N686K|BTBD11_uc001tml.1_Missense_Mutation_p.N223K NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 686 integral to membrane DNA binding skin(2)|ovary(1) 3 GCGAGGAGAACTACTCGGAAA 0.612 NA 23 68 1.42536e-11 1.93386e-11 0.004656 1 0 CUX2 23316 broad.mit.edu 37 12 111729244 111729244 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:111729244G>A uc001tsa.1 + 5 477 c.324G>A c.(322-324)GCG>GCA p.A108A CUX2_uc001tsb.1_Silent_p.A163A NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TGTTTGAGGCGGCACGCAGCC 0.652 NA 11 93 0 0 0.010729 0 0 NAA25 80018 broad.mit.edu 37 12 112516017 112516017 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:112516017C>A uc001ttm.2 - 7 659 c.639G>T c.(637-639)TTG>TTT p.L213F NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.L185F|NAA25_uc009zwa.1_Missense_Mutation_p.L213F NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 213 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 TGATGACATCCAAGGCCTCCT 0.299 NA 35 53 1.38162e-09 1.77233e-09 0.00874 1 0 C12orf51 283450 broad.mit.edu 37 12 112681285 112681285 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:112681285C>A uc009zwc.2 - 25 3582 c.3564G>T c.(3562-3564)AGG>AGT p.R1188S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CCCGCCGCCACCTTGTCTGTG 0.592 NA 6 7 8.12818e-05 9.16246e-05 0.001984 1 0 NOS1 4842 broad.mit.edu 37 12 117681107 117681107 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:117681107G>T uc001twm.1 - 19 3643 c.2957C>A c.(2956-2958)ACA>AAA p.T986K NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 986 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGTACCTTGTGTGAGTTCTGG 0.517 Esophageal Squamous(162;1748 2599 51982 52956) NA 34 40 3.33393e-15 4.85581e-15 0.004878 1 0 KDM2B 84678 broad.mit.edu 37 12 122018776 122018777 + Missense_Mutation DNP GG GG AA TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:122018776_122018777GG>AA uc001uat.2 - 1 144_145 c.40_41CC>TT c.(40-42)CCC>TTC p.P14F KDM2B_uc001uas.2_5'Flank|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.P14F NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 14 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 TTTTCGTGGGGGGTGATCCTCT 0.48 NA 81 83 0 0 0.004672 0 0 RNF17 56163 broad.mit.edu 37 13 25416251 25416251 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:25416251G>T uc001upr.2 + 19 2596 c.2555G>T c.(2554-2556)AGT>ATT p.S852I RNF17_uc010tdd.1_Missense_Mutation_p.S711I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S852I|RNF17_uc001ups.2_Missense_Mutation_p.S791I|RNF17_uc010aac.2_Missense_Mutation_p.S50I|RNF17_uc010aad.2_5'Flank NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 852 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACTACTACTAGTATTAATGAC 0.348 NA 38 43 2.54651e-27 4.41825e-27 0.006999 1 0 PABPC3 5042 broad.mit.edu 37 13 25671243 25671243 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:25671243G>A uc001upy.2 + 1 968 c.907G>A c.(907-909)GAT>AAT p.D303N NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 303 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAATCTTGATGATGGTATTGA 0.428 NA 125 173 0 0 0.00361 0 0 WASF3 10810 broad.mit.edu 37 13 27255238 27255238 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:27255238A>G uc001uqv.2 + 8 989 c.764A>G c.(763-765)AAC>AGC p.N255S WASF3_uc001uqw.2_Missense_Mutation_p.N252S NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 255 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GCTACTCCCAACCATTCTCTG 0.527 NA 16 72 0 0 0.007413 0 0 GPR12 2835 broad.mit.edu 37 13 27333098 27333098 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:27333098G>T uc010aal.2 - 2 1089 c.867C>A c.(865-867)CCC>CCA p.P289P GPR12_uc010tdl.1_Silent_p.P130P NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 289 Helical; Name=7; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) TGTAGGTGGCGGGCAGGAGGG 0.522 NA 26 24 1.5548e-18 2.39911e-18 0.005443 1 0 FLT1 2321 broad.mit.edu 37 13 28964084 28964084 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:28964084C>A uc001usb.3 - 13 2103 c.1818G>T c.(1816-1818)AAG>AAT p.K606N FLT1_uc010aar.1_Missense_Mutation_p.K606N|FLT1_uc001usc.3_Missense_Mutation_p.K606N|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.K89N NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 606 Ig-like C2-type 6.|Extracellular (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) CCATTTTTTGCTTGCTAATAC 0.413 NA 40 117 7.53189e-24 1.26314e-23 0.007835 1 0 FRY 10129 broad.mit.edu 37 13 32745165 32745165 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:32745165G>A uc001utx.2 + 18 2405 c.1909G>A c.(1909-1911)GAT>AAT p.D637N FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 637 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) TATTCATATGGATGATGAATT 0.333 NA 55 62 0 0 0.00361 0 0 KL 9365 broad.mit.edu 37 13 33635064 33635064 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:33635064G>A uc001uus.2 + 4 1856 c.1848G>A c.(1846-1848)CTG>CTA p.L616L KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 616 Glycosyl hydrolase-1 2.|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) ACACCATCCTGCAGTACTATC 0.587 NA 13 65 0 0 0.004007 0 0 AKAP11 11215 broad.mit.edu 37 13 42869861 42869861 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:42869861G>T uc001uys.1 + 5 374 c.199G>T c.(199-201)GAT>TAT p.D67Y NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 67 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGAAGAGACAGATGCTGCTCA 0.348 NA 37 50 6.48837e-15 9.30617e-15 0.010771 1 0 ZC3H13 23091 broad.mit.edu 37 13 46559672 46559672 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:46559672C>T uc010tfw.1 - 9 1486 c.1480G>A c.(1480-1482)GAT>AAT p.D494N ZC3H13_uc001vas.1_Missense_Mutation_p.D494N|ZC3H13_uc001vat.1_Missense_Mutation_p.D494N NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 494 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) TCTCTGGGATCACGGCTCTCT 0.507 Esophageal Squamous(187;747 2077 11056 31291 44172) NA 81 84 0 0 0.00361 0 0 PCDH17 27253 broad.mit.edu 37 13 58207805 58207805 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:58207805G>T uc001vhq.1 + 1 2017 c.1125G>T c.(1123-1125)CGG>CGT p.R375R PCDH17_uc010aec.1_Silent_p.R375R NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 375 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCTGGTGCGGGTCACTGACC 0.567 Melanoma(72;952 1291 1619 12849 33676) NA 7 26 2.0095e-06 2.34597e-06 0.001984 1 0 PCDH9 5101 broad.mit.edu 37 13 67800609 67800609 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:67800609C>G uc001vik.2 - 2 2656 c.1964G>C c.(1963-1965)CGT>CCT p.R655P PCDH9_uc001vil.2_Missense_Mutation_p.R655P|PCDH9_uc010thl.1_Missense_Mutation_p.R655P|PCDH9_uc001vin.3_Missense_Mutation_p.R655P NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 655 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AGTAGAGGAACGAGGTGGTTG 0.438 NA 13 87 0 0 0.001855 0 0 KLHL1 57626 broad.mit.edu 37 13 70456619 70456619 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:70456619T>A uc001vip.2 - 5 1817 c.1023A>T c.(1021-1023)ATA>ATT p.I341I KLHL1_uc010thm.1_Silent_p.I280I NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 341 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TAACTTCCATTATGTTTTCCT 0.358 NA 4 27 0 0 0.000602 0 0 LMO7 4008 broad.mit.edu 37 13 76397701 76397701 + Missense_Mutation SNP A A G rs151245949 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:76397701A>G uc001vjv.2 + 12 2702 c.1942A>G c.(1942-1944)ATG>GTG p.M648V LMO7_uc010thv.1_Missense_Mutation_p.M599V|LMO7_uc001vjt.1_Missense_Mutation_p.M547V|LMO7_uc010thw.1_Missense_Mutation_p.M498V|LMO7_uc001vjw.1_Missense_Mutation_p.M554V NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 933 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TCTTATTTAGATGGATGATGC 0.313 NA 13 50 0 0 0.001855 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455264 84455264 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:84455264G>A uc001vlk.2 - 1 1265 c.379C>T c.(379-381)CTG>TTG p.L127L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 127 Extracellular (Potential).|LRR 3. 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) TCCAGCCCCAGAAAAGTCTGC 0.483 NA 19 107 0 0 0.010504 0 0 IPO5 3843 broad.mit.edu 37 13 98658478 98658478 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:98658478A>T uc001vnf.1 + 14 1657 c.1592A>T c.(1591-1593)TAT>TTT p.Y531F IPO5_uc001vne.2_Missense_Mutation_p.Y549F|IPO5_uc010tik.1_Missense_Mutation_p.Y406F|IPO5_uc010til.1_Missense_Mutation_p.Y471F|IPO5_uc001vng.1_Missense_Mutation_p.Y152F NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 531 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 GTCCCCTACTATGATTTATTT 0.388 NA 43 163 0 0 0.010771 0 0 FARP1 10160 broad.mit.edu 37 13 99092992 99092992 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:99092992C>G uc001vnj.2 + 24 3034 c.2698C>G c.(2698-2700)CTG>GTG p.L900V FARP1_uc001vnh.2_Missense_Mutation_p.L931V NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 900 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GCGCACATCGCTGGAGCGCCA 0.632 NA 8 25 0 0 0.00308 0 0 ZNF828 283489 broad.mit.edu 37 13 115090570 115090570 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:115090570A>C uc010ahb.2 + 3 1582 c.1253A>C c.(1252-1254)GAG>GCG p.E418A ZNF828_uc001vuv.2_Missense_Mutation_p.E418A|ZNF828_uc010tko.1_Missense_Mutation_p.E418A NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 418 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) GTGTCTCCAGAGCTTCGCAAA 0.557 NA 5 95 0 0 0.001168 0 0 P704P 641455 broad.mit.edu 37 14 20020002 20020002 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:20020002C>A uc001vwc.3 - 1 271 c.219G>T c.(217-219)AGG>AGT p.R73S P704P_uc001vwb.3_RNA NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN prostate-specific P704P 73 0 TGCCGCTCCCCCTGCACCAGG 0.582 NA 111 386 1.56149e-49 2.97672e-49 0.00361 1 0 OR4N5 390437 broad.mit.edu 37 14 20612049 20612049 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:20612049A>T uc010tla.1 + 1 155 c.155A>T c.(154-156)GAC>GTC p.D52V NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ATAAAGTCAGACCCTGGGCTC 0.463 NA 104 342 0 0 0.00361 0 0 PNP 4860 broad.mit.edu 37 14 20943064 20943064 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:20943064G>T uc001vxo.3 + 4 560 c.418G>T c.(418-420)GGT>TGT p.G140C PNP_uc010ahn.2_3'UTR|PNP_uc001vxn.3_Missense_Mutation_p.G11C NM_000270 NP_000261 P00491 PNPH_HUMAN nucleoside phosphorylase 140 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity ovary(2) 2 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) CAACCTACCTGGTTTCAGTGG 0.483 NA 32 93 2.09667e-21 3.43215e-21 0.003755 1 0 ATL1 51062 broad.mit.edu 37 14 51087337 51087337 + Nonsense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:51087337A>T uc001wyf.3 + 9 1124 c.883A>T c.(883-885)AAA>TAA p.K295* ATL1_uc001wyd.3_Nonsense_Mutation_p.K295*|ATL1_uc001wye.3_Nonsense_Mutation_p.K295* NM_015915 NP_056999 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 isoform a 295 Cytoplasmic. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding skin(3)|central_nervous_system(1) 4 TGAATTCATCAAAAACTTGAA 0.378 NA 8 124 0 0 0.008291 0 0 SAMD4A 23034 broad.mit.edu 37 14 55243227 55243227 + Silent SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:55243227C>G uc001xbb.2 + 10 2011 c.2010C>G c.(2008-2010)TCC>TCG p.S670S SAMD4A_uc001xbc.2_Silent_p.S582S|SAMD4A_uc001xbg.2_Silent_p.S262S NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 671 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 TGCACACTTCCCCACAGAACA 0.612 NA 59 279 0 0 0.00361 0 0 DACT1 51339 broad.mit.edu 37 14 59112601 59112601 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:59112601G>A uc001xdw.2 + 4 1424 c.1260G>A c.(1258-1260)TCG>TCA p.S420S DACT1_uc010trv.1_Silent_p.S139S|DACT1_uc001xdx.2_Silent_p.S383S|DACT1_uc010trw.1_Silent_p.S139S NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 420 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 AGCAGTGGTCGAAAGAATCAA 0.567 NA 8 90 0 0 0.008291 0 0 PRKCH 5583 broad.mit.edu 37 14 61915900 61915900 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:61915900A>G uc001xfn.2 + 5 937 c.632A>G c.(631-633)CAT>CGT p.H211R PRKCH_uc010tsa.1_Missense_Mutation_p.H50R NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 211 Phorbol-ester/DAG-type 1. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGTGTCGTCCATAAACGCTGC 0.413 Melanoma(135;863 1779 8064 14443 26348) NA 43 129 0 0 0.00361 0 0 NRXN3 9369 broad.mit.edu 37 14 79181120 79181120 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:79181120G>T uc001xun.2 + 5 1054 c.563G>T c.(562-564)AGG>ATG p.R188M NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R322M NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 561 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTGAACAGCAGGCGCACGCCA 0.552 NA 98 295 1.45855e-51 2.80891e-51 0.00361 1 0 IFI27L1 122509 broad.mit.edu 37 14 94568239 94568239 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:94568239A>T uc001ycl.2 + 4 349 c.141A>T c.(139-141)GCA>GCT p.A47A IFI27L1_uc001yck.2_Silent_p.A47A NM_206949 NP_996832 Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 47 integral to membrane 0 CCTCCATAGCAGCCAAGATGA 0.587 NA 55 34 0 0 0.00361 0 0 SERPINA5 5104 broad.mit.edu 37 14 95057199 95057199 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:95057199G>T uc001ydm.2 + 5 1214 c.1004G>T c.(1003-1005)GGC>GTC p.G335V SERPINA3_uc001ydo.3_5'Flank NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 335 G -> R (in Ref. 1; AAA35688 and 9; AAB26244). fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GATCTGTCCGGCATCAGCAAC 0.448 NA 83 51 1.84514e-49 3.50856e-49 0.00361 1 0 TCL1A 8115 broad.mit.edu 37 14 96178706 96178706 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:96178706G>A uc001yfc.3 - 2 278 c.148C>T c.(148-150)CTC>TTC p.L50F TCL1A_uc001yfb.3_Missense_Mutation_p.L50F NM_001098725 NP_001092195 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 50 multicellular organismal development endoplasmic reticulum|microsome lung(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CGACGCAAGAGCACCCGTAAC 0.572 Ovarian(96;1068 2019 35393 39316) NA T TRA@ T-CLL 17 135 0 0 0.006122 0 0 SETD3 84193 broad.mit.edu 37 14 99925494 99925494 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:99925494C>T uc001ygc.2 - 5 544 c.374G>A c.(373-375)CGA>CAA p.R125Q SETD3_uc001ygd.2_Missense_Mutation_p.R125Q|SETD3_uc001ygf.2_Missense_Mutation_p.R125Q NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 125 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) TAGCAATTTTCGTGGAACCCA 0.343 NA 4 184 0 0 0.009096 0 0 RYR3 6263 broad.mit.edu 37 15 34064146 34064146 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:34064146C>A uc001zhi.2 + 63 8912 c.8842C>A c.(8842-8844)CTG>ATG p.L2948M RYR3_uc010bar.2_Missense_Mutation_p.L2948M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2948 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) AGGCTCAGAGCTGGTGAAGGC 0.448 NA 7 5 0.000157383 0.000175051 0.00308 1 0 SLC12A6 9990 broad.mit.edu 37 15 34530465 34530465 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:34530465T>A uc001zhw.2 - 20 2934 c.2770A>T c.(2770-2772)ATG>TTG p.M924L SLC12A6_uc001zhv.2_Missense_Mutation_p.M873L|SLC12A6_uc001zhx.2_Missense_Mutation_p.M909L|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.M865L|SLC12A6_uc001zib.2_Missense_Mutation_p.M915L|SLC12A6_uc001zic.2_Missense_Mutation_p.M924L|SLC12A6_uc010bau.2_Missense_Mutation_p.M924L|SLC12A6_uc001zid.2_Missense_Mutation_p.M865L|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.M736L NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 924 Helical; (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GGTAGTAGCATAAGCATCCCC 0.423 NA 21 44 0 0 0.00333 0 0 SPTBN5 51332 broad.mit.edu 37 15 42168805 42168805 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:42168805T>A uc001zos.2 - 20 4120 c.3787A>T c.(3787-3789)AGG>TGG p.R1263W NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1298 Spectrin 9. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCCTGGAGCCTGGTCCACTGT 0.662 NA 3 11 0 0 0.004672 0 0 TP53BP1 7158 broad.mit.edu 37 15 43771675 43771676 + Missense_Mutation DNP CT CT TA TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:43771675_43771676CT>TA uc001zrs.2 - 7 840_841 c.692_693AG>TA c.(691-693)CAG>CTA p.Q231L TP53BP1_uc010udp.1_Missense_Mutation_p.Q231L|TP53BP1_uc001zrq.3_Missense_Mutation_p.Q236L|TP53BP1_uc001zrr.3_Missense_Mutation_p.Q236L|TP53BP1_uc010udq.1_Missense_Mutation_p.Q236L NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 231 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCTTGCTGGACTGTTCTGCTAT 0.401 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 80 100 0 0 0.004672 0 0 TRIM69 140691 broad.mit.edu 37 15 45047534 45047534 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:45047534A>G uc001zuf.2 + 3 1338 c.443A>G c.(442-444)AAG>AGG p.K148R TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.K148R|TRIM69_uc001zuh.1_Intron NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 148 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) GGGCAGTCTAAGGAGTTCCTG 0.468 Pancreas(84;519 1450 1802 20427 34706) NA 17 44 0 0 0.008871 0 0 SLC24A5 283652 broad.mit.edu 37 15 48427124 48427124 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:48427124C>G uc001zwe.2 + 5 606 c.533C>G c.(532-534)GCG>GGG p.A178G SLC24A5_uc010bel.2_Missense_Mutation_p.A118G|uc001zwf.1_RNA NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 178 Helical; Name=4; (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GACTGTGCAGCGTACACAATT 0.333 NA 18 39 0 0 0.012319 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397328 51397328 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:51397328A>G uc001zyy.2 - 1 146 c.46T>C c.(46-48)TGT>CGT p.C16R NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 16 0 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) TCTGCCTCACAGAGTGTGGAA 0.512 NA 47 63 0 0 0.00361 0 0 UNC13C 440279 broad.mit.edu 37 15 54817797 54817797 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:54817797T>C uc002ack.2 + 23 5508 c.5508T>C c.(5506-5508)AGT>AGC p.S1836S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1836 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) TTAAGCTCAGTGGGGTCCTGG 0.373 NA 5 9 0 0 0.001168 0 0 VPS13C 54832 broad.mit.edu 37 15 62160902 62160902 + Missense_Mutation SNP G G A rs149574145 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:62160902G>A uc002agz.2 - 81 10893 c.10819C>T c.(10819-10821)CGT>TGT p.R3607C VPS13C_uc002aha.2_Missense_Mutation_p.R3564C|VPS13C_uc002ahb.1_Missense_Mutation_p.R3607C|VPS13C_uc002ahc.1_Missense_Mutation_p.R3564C NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3607 protein localization ovary(2) 2 TCATAAGGACGAATGATGCCA 0.443 NA 15 29 0 0 0.008871 0 0 ZWILCH 55055 broad.mit.edu 37 15 66811350 66811350 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:66811350G>T uc002aqb.2 + 5 700 c.454G>T c.(454-456)GGA>TGA p.G152* RPL4_uc002apx.2_Intron|ZWILCH_uc010bhu.1_Nonsense_Mutation_p.G38*|ZWILCH_uc002aqa.2_Nonsense_Mutation_p.G38*|ZWILCH_uc010bhv.2_Nonsense_Mutation_p.G38* NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 152 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 TTGTTGGCTAGGAGCTGAGCT 0.428 NA 19 83 6.33239e-15 9.11718e-15 0.010504 1 0 ITGA11 22801 broad.mit.edu 37 15 68657091 68657091 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:68657091C>A uc002ari.2 - 4 398 c.311G>T c.(310-312)CGC>CTC p.R104L ITGA11_uc010bib.2_Missense_Mutation_p.R104L NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 104 FG-GAP 2.|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) AAGGCCGAGGCGCATGTTGTC 0.647 NA 7 40 2.52707e-12 3.49153e-12 0.006214 1 0 MYO9A 4649 broad.mit.edu 37 15 72190736 72190736 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:72190736G>A uc002atl.3 - 25 4581 c.4108C>T c.(4108-4110)CGG>TGG p.R1370W MYO9A_uc010biq.2_Missense_Mutation_p.R990W|MYO9A_uc002atn.1_Missense_Mutation_p.R1351W|MYO9A_uc002atk.2_Missense_Mutation_p.R94W|MYO9A_uc002atm.1_Missense_Mutation_p.R94W NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1370 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 GCATTGTCCCGTGAATCAAAT 0.438 NA 26 80 0 0 0.004656 0 0 WDR90 197335 broad.mit.edu 37 16 705382 705382 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:705382C>T uc002cii.1 + 15 1686 c.1632C>T c.(1630-1632)GAC>GAT p.D544D WDR90_uc002cig.1_Silent_p.D544D|WDR90_uc002cih.1_Silent_p.D545D|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.D71D|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 544 ovary(1) 1 Hepatocellular(780;0.0218) GCCCCGTGGACTTAGGGGAGC 0.697 NA 4 13 0 0 0.000602 0 0 MYH11 4629 broad.mit.edu 37 16 15818582 15818582 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:15818582G>T uc002ddy.2 - 30 4145 c.4038C>A c.(4036-4038)AAC>AAA p.N1346K MYH11_uc002ddv.2_Missense_Mutation_p.N1353K|MYH11_uc002ddw.2_Missense_Mutation_p.N1346K|MYH11_uc002ddx.2_Missense_Mutation_p.N1353K|MYH11_uc010bvg.2_Missense_Mutation_p.N1178K|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.N52K|NDE1_uc002ddz.1_RNA NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1346 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CTTGCAGGCTGTTCCGCTCCT 0.592 NA T CBFB AML 64 171 1.52808e-22 2.54568e-22 0.00361 1 0 GPRC5B 51704 broad.mit.edu 37 16 19873217 19873217 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:19873217G>C uc002dgt.2 - 3 1217 c.1109C>G c.(1108-1110)CCG>CGG p.P370R GPRC5B_uc010vav.1_Missense_Mutation_p.P396R NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 370 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 GCTTCTAAACGGAGCGCTGGG 0.562 NA 34 73 0 0 0.003271 0 0 ACSM2B 348158 broad.mit.edu 37 16 20563612 20563612 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:20563612C>A uc002dhj.3 - 7 958 c.748G>T c.(748-750)GGC>TGC p.G250C ACSM2B_uc002dhk.3_Missense_Mutation_p.G250C|ACSM2B_uc010bwf.1_Missense_Mutation_p.G250C NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 250 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 GCTTGCAGGCCTGTCCAACTG 0.473 NA 48 122 4.45325e-31 7.90873e-31 0.00361 1 0 EARS2 124454 broad.mit.edu 37 16 23540900 23540900 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:23540900C>A uc002dlt.3 - 7 1307 c.1275G>T c.(1273-1275)TGG>TGT p.W425C EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.W425C NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 425 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CAGGGCGAGTCCACAGGTAAG 0.592 NA 11 43 1.58986e-06 1.86475e-06 0.008291 1 0 GTF3C1 2975 broad.mit.edu 37 16 27523148 27523148 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:27523148C>G uc002dov.1 - 7 1088 c.1048G>C c.(1048-1050)GAG>CAG p.E350Q GTF3C1_uc002dou.2_Missense_Mutation_p.E350Q NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 350 Asp/Glu-rich (acidic). transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ATGACCTCCTCGTCCTCGTCA 0.532 NA 29 47 0 0 0.00632 0 0 TRIM72 493829 broad.mit.edu 37 16 31230652 31230652 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:31230652G>T uc002ebn.1 + 4 758 c.529G>T c.(529-531)GGC>TGC p.G177C PYDC1_uc002ebo.2_5'Flank NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 177 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 GGAGCAGCTGGGCAAGATGCG 0.667 NA 47 80 1.72184e-34 3.1242e-34 0.00361 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:32890622T>G uc002edh.1 - 5 440 c.264A>C c.(262-264)AAA>AAC p.K88N SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 CGTTGGTGTTTTTGTAGACCA 0.512 NA 3 28 0 0 0.004672 0 0 ABCC11 85320 broad.mit.edu 37 16 48248819 48248819 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:48248819G>T uc002eff.1 - 8 1571 c.1221C>A c.(1219-1221)TCC>TCA p.S407S ABCC11_uc002efg.1_Silent_p.S407S|ABCC11_uc002efh.1_Silent_p.S407S|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 407 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCAGCTTTAAGGATGTGTGGA 0.483 NA Cerumen_Type 20 36 1.50039e-11 2.032e-11 0.012319 1 0 ZNF423 23090 broad.mit.edu 37 16 49670060 49670060 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:49670060C>G uc002efs.2 - 5 3301 c.3003G>C c.(3001-3003)GAG>GAC p.E1001D ZNF423_uc010vgn.1_Missense_Mutation_p.E884D NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1001 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) CAATAAACTCCTCCTCGCTCT 0.597 NA 4 18 0 0 0.000602 0 0 FTO 79068 broad.mit.edu 37 16 53967990 53967990 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:53967990C>T uc002ehr.2 + 8 1555 c.1333C>T c.(1333-1335)CGC>TGC p.R445C FTO_uc010vha.1_Missense_Mutation_p.R149C|FTO_uc010cbz.2_Missense_Mutation_p.R46C|FTO_uc002ehs.2_RNA NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 445 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GCTCACTGCACGCCAGAACCT 0.468 NA 8 38 0 0 0.00308 0 0 MMP2 4313 broad.mit.edu 37 16 55519237 55519237 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:55519237G>C uc002ehz.3 + 4 867 c.556G>C c.(556-558)GGT>CGT p.G186R MMP2_uc010vhd.1_Missense_Mutation_p.G110R|MMP2_uc010ccc.2_Missense_Mutation_p.G136R NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 186 Collagenase-like 1. Calcium 3; via carbonyl oxygen (By similarity). angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CCCCTTTGACGGTAAGGACGG 0.562 NA 33 61 0 0 0.003755 0 0 NLRC5 84166 broad.mit.edu 37 16 57111715 57111715 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:57111715G>T uc002ekk.1 + 42 5228 c.5003_splice c.e42+1 p.M1668_splice NLRC5_uc010ccr.1_Splice_Site|NLRC5_uc010ccs.1_Splice_Site|NLRC5_uc002eko.1_Splice_Site|NLRC5_uc002ekq.1_Splice_Site_p.M210_splice|NLRC5_uc002ekr.1_Splice_Site_p.M555_splice NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) AGGAGTTGATGTGAGTGTCTG 0.672 NA 18 22 0.00074312 0.00080746 0.006122 1 0 CES3 23491 broad.mit.edu 37 16 66998348 66998348 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:66998348G>A uc002eqt.2 + 5 722 c.649G>A c.(649-651)GGG>AGG p.G217R CES3_uc010cdz.2_Missense_Mutation_p.G217R|CES3_uc010cea.2_RNA NM_024922 NP_079198 Q6UWW8 EST3_HUMAN carboxylesterase 3 precursor 217 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity ovary(3)|central_nervous_system(2) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) CGCCCCCTTCGGGGGTGACCT 0.582 NA 6 24 0 0 0.001168 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317892 77317892 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:77317892G>T uc002ffc.3 - 23 4046 c.3627C>A c.(3625-3627)TAC>TAA p.Y1209* NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1209 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 ATTGTTTTCCGTAAAACTTGT 0.458 NA 21 76 6.44725e-10 8.38477e-10 0.002299 1 0 FBXO39 162517 broad.mit.edu 37 17 6690699 6690699 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:6690699G>T uc010vtg.1 + 4 1401 c.1281G>T c.(1279-1281)CTG>CTT p.L427L FBXO39_uc010cls.1_Intron NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN F-box protein 39 427 ovary(1)|skin(1) 2 ACAGAAAGCTGATCGAATCAG 0.398 NA 18 63 3.41278e-10 4.47705e-10 0.00499 1 0 ACAP1 9744 broad.mit.edu 37 17 7246801 7246801 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:7246801C>G uc002ggd.2 + 6 654 c.448C>G c.(448-450)CAG>GAG p.Q150E NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 150 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 GCGCCGGGCCCAGGAGGCAGA 0.672 NA 13 56 0 0 0.00245 0 0 DNAH2 146754 broad.mit.edu 37 17 7638002 7638002 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:7638002T>C uc002giu.1 + 6 968 c.954T>C c.(952-954)TTT>TTC p.F318F DNAH2_uc002git.2_Silent_p.F318F|DNAH2_uc010vuk.1_Silent_p.F318F NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 318 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGCGCCCTTTATGAAACTGG 0.512 NA 17 49 0 0 0.006122 0 0 MYH1 4619 broad.mit.edu 37 17 10397671 10397671 + Silent SNP C C T rs145273788 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:10397671C>T uc002gmo.2 - 39 5761 c.5667G>A c.(5665-5667)GCG>GCA p.A1889A uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1889 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GTGAACTCACCGCTTCTTCAG 0.443 NA 35 67 0 0 0.003755 0 0 DNAH9 1770 broad.mit.edu 37 17 11837221 11837221 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:11837221C>T uc002gne.2 + 65 12390 c.12322C>T c.(12322-12324)CTG>TTG p.L4108L DNAH9_uc010coo.2_Silent_p.L3326L|DNAH9_uc002gnf.2_Silent_p.L420L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4108 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) TTTGCGCTACCTGTTTGGAGA 0.517 NA 10 50 0 0 0.006214 0 0 MYOCD 93649 broad.mit.edu 37 17 12656400 12656400 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:12656400C>A uc002gnn.2 + 10 2094 c.1795C>A c.(1795-1797)CCG>ACG p.P599T MYOCD_uc002gno.2_Missense_Mutation_p.P599T|MYOCD_uc002gnp.1_Missense_Mutation_p.P503T|MYOCD_uc002gnq.2_Missense_Mutation_p.P318T NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 599 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GTGTCACCCACCGGCTTGTGA 0.517 NA 28 62 4.02929e-09 5.12509e-09 0.010818 1 0 PIGS 94005 broad.mit.edu 37 17 26883184 26883184 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:26883184C>A uc002hbo.2 - 10 1554 c.1181G>T c.(1180-1182)CGG>CTG p.R394L PIGS_uc002hbn.2_Missense_Mutation_p.R386L|PIGS_uc010wap.1_Missense_Mutation_p.R333L NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 394 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) AGGACCTCACCGCAACTGTGC 0.512 NA 16 49 0.000308642 0.000339281 0.003163 1 0 CORO6 84940 broad.mit.edu 37 17 27948283 27948283 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:27948283C>G uc002hel.2 - 1 159 c.157G>C c.(157-159)GCT>CCT p.A53P NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 53 actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CCGCCTCCAGCCTCCACAATA 0.602 NA 11 38 0 0 0.001368 0 0 SLFN5 162394 broad.mit.edu 37 17 33585721 33585721 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:33585721G>T uc002hjf.3 + 2 129 c.12G>T c.(10-12)AGG>AGT p.R4S SLFN5_uc002hje.2_Missense_Mutation_p.R4S|SLFN5_uc010wcg.1_Missense_Mutation_p.R4S NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 4 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TGAGTCTTAGGATTGATGTGG 0.463 NA 13 53 7.93312e-07 9.39252e-07 0.00245 1 0 KRT28 162605 broad.mit.edu 37 17 38955966 38955966 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:38955966G>A uc002hvh.1 - 1 246 c.180C>T c.(178-180)AGC>AGT p.S60S NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 60 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CACCAGCATGGCTCCCACCAG 0.547 Melanoma(19;789 869 15380 26882 39836) NA 47 33 0 0 0.00361 0 0 C17orf53 78995 broad.mit.edu 37 17 42232034 42232034 + Splice_Site SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:42232034T>A uc002ifi.1 + 6 1746 c.1561_splice c.e6+2 p.G521_splice C17orf53_uc010czq.1_Splice_Site_p.G520_splice|C17orf53_uc002ifj.1_Splice_Site_p.G445_splice|C17orf53_uc002ifk.1_Splice_Site NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) ACCCCACGGGTAAGGAATTAG 0.542 NA 9 46 0 0 0.004482 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42274678 42274678 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:42274678T>C uc002iga.2 - 3 365 c.274A>G c.(274-276)AGC>GGC p.S92G ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Missense_Mutation_p.S92G NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 92 SGF11-type. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GCGGCAATGCTGCGACTGCAA 0.597 NA 22 118 0 0 0.002299 0 0 FMNL1 752 broad.mit.edu 37 17 43321390 43321390 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:43321390C>T uc002iin.2 + 18 2646 c.2446C>T c.(2446-2448)CCG>TCG p.P816S FMNL1_uc002iiq.2_Missense_Mutation_p.P394S|FMNL1_uc010dag.2_RNA NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 816 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GCTGCTCATGCCGGTGTGGGC 0.672 GBM(164;1247 1997 8702 11086 51972) NA 3 44 0 0 0.004672 0 0 HOXB2 3212 broad.mit.edu 37 17 46622233 46622233 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:46622233C>T uc002inm.2 - 1 161 c.41G>A c.(40-42)AGC>AAC p.S14N NM_002145 NP_002136 P14652 HXB2_HUMAN homeobox B2 14 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGACGGCTGGCTGTTTATAAA 0.532 NA 15 76 0 0 0.00499 0 0 BRIP1 83990 broad.mit.edu 37 17 59760697 59760697 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:59760697G>A uc002izk.1 - 20 3851 c.3710C>T c.(3709-3711)TCT>TTT p.S1237F NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1237 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 TTTGGAAGGAGATGGTTTAAA 0.294 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 23 81 0 0 0.00333 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60348783 60348783 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:60348783C>G uc002izq.2 - 6 434 c.322G>C c.(322-324)GGC>CGC p.G108R TBC1D3P2_uc010woz.1_RNA|uc010wpa.1_5'Flank SubName: Full=Putative uncharacterized protein TBC1D3E; 0 CACATCGGGCCCCGGATGTTC 0.552 NA 21 69 0 0 0.004878 0 0 USP36 57602 broad.mit.edu 37 17 76831480 76831480 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:76831480G>A uc002jvz.1 - 4 682 c.357C>T c.(355-357)CGC>CGT p.R119R USP36_uc002jwa.1_Silent_p.R119R|USP36_uc002jwd.1_Silent_p.R119R NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 119 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CTGCGCCCACGCGGAAGACCC 0.592 NA 13 16 0 0 0.004007 0 0 LAMA1 284217 broad.mit.edu 37 18 7008579 7008579 + Nonsense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:7008579T>A uc002knm.2 - 28 4124 c.4030A>T c.(4030-4032)AGA>TGA p.R1344* LAMA1_uc010wzj.1_Nonsense_Mutation_p.R820* NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1344 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGCCTTTCTGCCAACCTCC 0.443 NA 13 68 0 0 0.003163 0 0 LAMA1 284217 broad.mit.edu 37 18 7023336 7023336 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:7023336C>A uc002knm.2 - 19 2622 c.2528G>T c.(2527-2529)GGC>GTC p.G843V LAMA1_uc010wzj.1_Missense_Mutation_p.G319V NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 843 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACAAGATTCGCCAGGCACTGT 0.527 NA 9 32 1.76689e-08 2.1955e-08 0.006214 1 0 CEP192 55125 broad.mit.edu 37 18 13030600 13030600 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:13030600A>T uc010xac.1 + 11 1607 c.1527A>T c.(1525-1527)AGA>AGT p.R509S CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R104S|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Intron NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 509 ovary(4)|pancreas(1) 5 AAGACTTCAGATCTGGTTGTA 0.343 NA 11 93 0 0 0.001368 0 0 C18orf1 753 broad.mit.edu 37 18 13645402 13645402 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:13645402A>C uc002ksa.2 + 7 1335 c.667A>C c.(667-669)ATG>CTG p.M223L C18orf1_uc002ksb.2_Missense_Mutation_p.M205L|C18orf1_uc002kse.2_Missense_Mutation_p.M186L|C18orf1_uc002ksf.2_Missense_Mutation_p.M168L|C18orf1_uc002ksg.1_Missense_Mutation_p.M146L|C18orf1_uc002ksh.1_Missense_Mutation_p.M165L|C18orf1_uc002ksi.1_Missense_Mutation_p.M147L NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 223 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) AGACATTGCTATGTATAGCGG 0.577 NA 8 86 0 0 0.004482 0 0 LAMA3 3909 broad.mit.edu 37 18 21508618 21508618 + Silent SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:21508618A>C uc002kuq.2 + 64 8411 c.8325A>C c.(8323-8325)GGA>GGC p.G2775G LAMA3_uc002kur.2_Silent_p.G2719G|LAMA3_uc002kus.3_Silent_p.G1166G|LAMA3_uc002kut.3_Silent_p.G1110G NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2775 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCCAGAGGAGGACAATTGA 0.428 NA 41 333 0 0 0.00361 0 0 ZNF521 25925 broad.mit.edu 37 18 22805191 22805191 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:22805191C>A uc002kvk.2 - 4 2938 c.2691G>T c.(2689-2691)ATG>ATT p.M897I ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M897I|ZNF521_uc002kvl.2_Missense_Mutation_p.M677I NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 897 C2H2-type 21; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCAAAGTTTCCATAGTGTAGG 0.502 NA T PAX5 ALL 28 122 3.73148e-12 5.12738e-12 0.007291 1 0 DSG2 1829 broad.mit.edu 37 18 29099836 29099836 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:29099836G>T uc002kwu.3 + 3 340 c.152G>T c.(151-153)TGG>TTG p.W51L NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 51 Extracellular (Potential).|Cadherin 1. 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) AAGCGCGCCTGGATCACCGCC 0.433 NA 95 41 9.15355e-43 1.71458e-42 0.00361 1 0 ASXL3 80816 broad.mit.edu 37 18 31323007 31323007 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:31323007G>T uc010dmg.1 + 12 3250 c.3195G>T c.(3193-3195)CGG>CGT p.R1065R ASXL3_uc002kxq.2_Silent_p.R772R NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1065 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AACAAGCTCGGGCCCAGCGAG 0.612 NA 8 49 0.00448238 0.00476055 0.004482 1 0 SLC14A2 8170 broad.mit.edu 37 18 43247835 43247835 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:43247835C>A uc010dnj.2 + 15 2076 c.1755C>A c.(1753-1755)CTC>CTA p.L585L SLC14A2_uc002lbe.2_Silent_p.L585L NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 585 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 ACTGGGTCCTCCGAGGCACAT 0.577 NA 120 42 3.13773e-49 5.95142e-49 0.00361 1 0 LIPG 9388 broad.mit.edu 37 18 47108730 47108730 + Splice_Site SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:47108730A>T uc002ldv.2 + 7 1289 c.1037_splice c.e7-2 p.V346_splice LIPG_uc010xdh.1_Splice_Site_p.V272_splice NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CTGTCACTGCAGTTTACCATT 0.448 Pancreas(126;280 1778 12814 26243 34948) NA 81 47 0 0 0.00361 0 0 MYO5B 4645 broad.mit.edu 37 18 47455928 47455928 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:47455928C>G uc002leb.2 - 17 2332 c.2044G>C c.(2044-2046)GGG>CGG p.G682R NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 682 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TCCAACACCCCGCAGGCTCTG 0.527 NA 16 8 0 0 0.008871 0 0 MAPK4 5596 broad.mit.edu 37 18 48256146 48256147 + Missense_Mutation DNP CG CG TC TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:48256146_48256147CG>TC uc002lev.2 + 6 2686_2687 c.1686_1687CG>TC c.(1684-1689)GGCGAC>GGTCAC p.D563H MAPK4_uc010xdm.1_Missense_Mutation_p.D352H|MAPK4_uc010doz.2_3'UTR NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 563 cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) ATAAACTGGGCGACCTCAATGG 0.668 NA 9 6 0 0 0.004672 0 0 ALPK2 115701 broad.mit.edu 37 18 56184325 56184325 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:56184325C>T uc002lhj.3 - 9 5969 c.5755G>A c.(5755-5757)GCC>ACC p.A1919T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1919 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TCCTCCGTGGCGATCTGACCA 0.547 NA 5 93 0 0 0.000602 0 0 CDH20 28316 broad.mit.edu 37 18 59195340 59195340 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:59195340C>A uc010dps.1 + 6 1170 c.1158C>A c.(1156-1158)CCC>CCA p.P386P CDH20_uc002lif.2_Silent_p.P380P NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 386 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TGGACGAGCCCCCTGTGTTTG 0.512 NA 28 216 3.65163e-15 5.27769e-15 0.00632 1 0 SERPINB7 8710 broad.mit.edu 37 18 61460397 61460397 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:61460397A>T uc002ljl.2 + 4 318 c.222A>T c.(220-222)TCA>TCT p.S74S SERPINB7_uc002ljm.2_Silent_p.S74S|SERPINB7_uc010xet.1_Silent_p.S57S|SERPINB7_uc010dqg.2_Silent_p.S74S NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 74 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) AATAACAGTCAGGGCTCCAGT 0.313 NA 6 79 0 0 0.001984 0 0 NETO1 81832 broad.mit.edu 37 18 70417782 70417782 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:70417782G>C uc002lkw.2 - 9 1340 c.1056C>G c.(1054-1056)ATC>ATG p.I352M NETO1_uc002lkx.1_Missense_Mutation_p.I351M|NETO1_uc002lky.1_Missense_Mutation_p.I352M NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 352 Helical; (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GGATGATCACGATGCAGGAAG 0.463 NA 62 16 0 0 0.00361 0 0 MIER2 54531 broad.mit.edu 37 19 336131 336131 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:336131G>T uc002lok.1 - 2 61 c.52C>A c.(52-54)CTC>ATC p.L18I NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGTGCTCGAGGCAGGAGACC 0.657 NA 21 26 2.39556e-15 3.50264e-15 0.00278 1 0 MED16 10025 broad.mit.edu 37 19 881589 881589 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:881589C>A uc002lqd.1 - 7 1262 c.1111G>T c.(1111-1113)GCC>TCC p.A371S MED16_uc010drw.1_Missense_Mutation_p.A196S|MED16_uc002lqe.2_Missense_Mutation_p.A360S|MED16_uc002lqf.2_Missense_Mutation_p.A360S|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.A360S|MED16_uc010xfx.1_Missense_Mutation_p.A216S|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 371 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGTCGCTGGCCACCTTGAGG 0.657 NA 62 24 5.86059e-21 9.49037e-21 0.00361 1 0 GTF2F1 2962 broad.mit.edu 37 19 6380419 6380419 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:6380419T>G uc002meq.2 - 13 1712 c.1427A>C c.(1426-1428)AAG>ACG p.K476T GTF2F1_uc010xjb.1_Missense_Mutation_p.K297T|GTF2F1_uc010xjc.1_Missense_Mutation_p.K391T NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 476 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 GGTCTGGAACTTTTTCAGCAG 0.587 NA 7 121 0 0 0.001984 0 0 MAST1 22983 broad.mit.edu 37 19 12963015 12963015 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:12963015C>A uc002mvm.2 + 9 1091 c.963C>A c.(961-963)CCC>CCA p.P321P MAST1_uc002mvk.2_Silent_p.P317P NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 321 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CGGACATCCCCCGCTACATCA 0.667 NA 51 27 7.47603e-22 1.23453e-21 0.00361 1 0 ZNF626 199777 broad.mit.edu 37 19 20808333 20808333 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:20808333C>A uc002npb.1 - 4 500 c.350G>T c.(349-351)TGT>TTT p.C117F ZNF626_uc002npc.1_Missense_Mutation_p.C41F NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CACACTTATACATCCTTTTTT 0.338 NA 43 27 1.03325e-14 1.47915e-14 0.011902 1 0 ZFP30 22835 broad.mit.edu 37 19 38126960 38126960 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:38126960C>A uc002ogv.1 - 6 998 c.482G>T c.(481-483)GGG>GTG p.G161V ZFP30_uc002ogw.1_Missense_Mutation_p.G161V|ZFP30_uc002ogx.1_Missense_Mutation_p.G161V|ZFP30_uc010xtt.1_Missense_Mutation_p.G160V NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 161 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCACATTCCCCACATTCGTA 0.393 NA 43 91 2.215e-12 3.06599e-12 0.011902 1 0 RYR1 6261 broad.mit.edu 37 19 38995661 38995661 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:38995661G>A uc002oit.2 + 52 8380 c.8250G>A c.(8248-8250)AAG>AAA p.K2750K RYR1_uc002oiu.2_Silent_p.K2750K|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2750 5.|Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCCGGAGAAGCTGGACTCCT 0.562 NA 10 63 0 0 0.010729 0 0 MAP3K10 4294 broad.mit.edu 37 19 40710446 40710446 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:40710446C>T uc002ona.2 + 3 1206 c.918C>T c.(916-918)ATC>ATT p.I306I MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 306 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 ACCGTGAGATCGACGCCTTGG 0.667 NA 21 32 0 0 0.002299 0 0 PSG9 5678 broad.mit.edu 37 19 43763045 43763045 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:43763045C>A uc002owd.3 - 4 1051 c.952G>T c.(952-954)GGC>TGC p.G318C PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Missense_Mutation_p.G225C|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 318 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) CTGCGGAGGCCACCATATCGG 0.493 NA 64 105 6.20203e-27 1.06381e-26 0.00361 1 0 PLAUR 5329 broad.mit.edu 37 19 44171830 44171830 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44171830C>A uc002oxf.1 - 2 299 c.69G>T c.(67-69)CTG>CTT p.L23L PLAUR_uc002oxd.1_Silent_p.L23L|PLAUR_uc002oxe.1_Silent_p.L18L|PLAUR_uc002oxg.1_Silent_p.L23L NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 23 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GCATGCACCGCAGGCCCCAAG 0.612 NA 10 25 7.48243e-07 8.88686e-07 0.006214 1 0 ZNF223 7766 broad.mit.edu 37 19 44570525 44570525 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44570525G>T uc002oyf.1 + 5 797 c.544G>T c.(544-546)GGA>TGA p.G182* ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 182 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) TGATGAGTGTGGAAAAAGCTT 0.428 NA 65 168 4.96364e-44 9.32076e-44 0.00361 1 0 ZNF234 10780 broad.mit.edu 37 19 44662182 44662182 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44662182C>A uc002oym.2 + 6 2320 c.2013C>A c.(2011-2013)CAC>CAA p.H671Q ZNF234_uc002oyl.3_Missense_Mutation_p.H671Q NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 671 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) TAAGTCATCACAAAATTCATG 0.368 NA 24 44 1.10923e-09 1.42778e-09 0.00278 1 0 ZNF227 7770 broad.mit.edu 37 19 44739572 44739572 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44739572G>T uc002oyu.2 + 6 1194 c.989G>T c.(988-990)GGC>GTC p.G330V ZNF227_uc010xwu.1_Missense_Mutation_p.G279V|ZNF227_uc002oyv.2_Missense_Mutation_p.G330V|ZNF227_uc010xwv.1_Missense_Mutation_p.G279V|ZNF227_uc010xww.1_Missense_Mutation_p.G251V|ZNF227_uc002oyw.2_Missense_Mutation_p.G302V|ZNF227_uc010ejh.2_Missense_Mutation_p.G323V|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 330 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) GACAGTTGCGGCAAGGGATTC 0.388 NA 33 66 1.08052e-11 1.4713e-11 0.004289 1 0 PGLYRP1 8993 broad.mit.edu 37 19 46526132 46526132 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:46526132G>T uc002pdx.1 - 1 192 c.148C>A c.(148-150)CTG>ATG p.L50M NM_005091 NP_005082 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 precursor 50 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2) 2 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) GGCAGGCTCAGGTGCTGGGCG 0.662 NA 4 10 0.00024832 0.000274978 0.009096 1 0 GRWD1 83743 broad.mit.edu 37 19 48956135 48956135 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:48956135C>T uc002pjd.2 + 7 1427 c.1194C>T c.(1192-1194)CCC>CCT p.P398P KCNJ14_uc002pje.1_5'Flank NM_031485 NP_113673 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 398 nucleolus ovary(1) 1 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) AGGCCGACCCCGGACTGGCCG 0.692 NA 18 19 0 0 0.008871 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49376608 49376608 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:49376608G>T uc002pky.3 + 2 387 c.118G>T c.(118-120)GGA>TGA p.G40* NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 40 Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GAGGGGCCTGGGACCTCTAGA 0.637 NA 16 33 1.78486e-19 2.82948e-19 0.007413 1 0 KLK1 3816 broad.mit.edu 37 19 51323520 51323520 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:51323520G>C uc002ptk.1 - 3 425 c.386C>G c.(385-387)CCT>CGT p.P129R KLK1_uc010ycg.1_RNA NM_002257 NP_002248 P06870 KLK1_HUMAN kallikrein 1 preproprotein 129 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity 0 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTATCAGCAGGCTCTGTCAG 0.602 NA 33 83 0 0 0.013114 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023450 52023450 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:52023450G>T uc002pwy.2 - 8 1410 c.1248C>A c.(1246-1248)CCC>CCA p.P416P SIGLEC6_uc002pwz.2_Silent_p.P400P|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Silent_p.P353P|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 416 Cytoplasmic (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTTCTGAGATGGGGCCAGCCT 0.507 NA 93 183 6.84326e-50 1.30786e-49 0.00361 1 0 SIGLEC6 946 broad.mit.edu 37 19 52031048 52031048 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:52031048C>A uc002pwy.2 - 7 1303 c.1141G>T c.(1141-1143)GTG>TTG p.V381L SIGLEC6_uc002pwz.2_Missense_Mutation_p.V365L|SIGLEC6_uc002pxa.2_Intron|SIGLEC6_uc010ydb.1_Missense_Mutation_p.V318L|SIGLEC6_uc010ydc.1_Intron|SIGLEC6_uc010eoz.1_Intron NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 381 Cytoplasmic (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTGTTTTGCACTGGCTGGGCT 0.488 NA 32 160 2.68265e-12 3.6997e-12 0.002836 1 0 VN1R2 317701 broad.mit.edu 37 19 53762292 53762292 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:53762292C>G uc002qbi.2 + 1 748 c.664C>G c.(664-666)CTG>GTG p.L222V NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 222 Helical; Name=4; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CTTCCACATGCTGGTAAATGC 0.448 NA 30 50 0 0 0.012213 0 0 LILRB2 10288 broad.mit.edu 37 19 54783311 54783311 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:54783311C>T uc002qfb.2 - 5 813 c.547G>A c.(547-549)GTG>ATG p.V183M LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.V183M|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.V183M|LILRB2_uc010yet.1_Missense_Mutation_p.V67M|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 183 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACGGGGCCCACGGAGAAGATG 0.572 NA 8 85 0 0 0.006214 0 0 LAIR2 3904 broad.mit.edu 37 19 55014160 55014160 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:55014160T>C uc002qgc.2 + 1 148 c.26T>C c.(25-27)CTG>CCG p.L9P LAIR2_uc002qga.1_Intron|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.2_Missense_Mutation_p.L9P|LAIR2_uc010erl.2_Missense_Mutation_p.L9P NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 9 extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACTGCTCTCCTGGGCCTAGGT 0.622 NA 27 62 0 0 0.012213 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340893 55340893 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:55340893C>A uc002qhk.3 + 7 1141 c.1078C>A c.(1078-1080)CTT>ATT p.L360I KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.L285I|KIR3DL1_uc010esf.2_Missense_Mutation_p.L265I|KIR3DL1_uc010yfo.1_Missense_Mutation_p.L302I|KIR3DL1_uc002qhl.3_Intron NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 360 Helical; (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) cttctttctccttcatctcTG 0.433 NA 9 24 1.49906e-05 1.7181e-05 0.00245 1 0 SAPS1 22870 broad.mit.edu 37 19 55753604 55753604 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:55753604C>A uc002qjw.3 - 7 1017 c.775G>T c.(775-777)GAG>TAG p.E259* SAPS1_uc002qjv.2_Nonsense_Mutation_p.E321* NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 259 Interaction with PPP6C. 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) TGGCTCTGCTCCCCCTCGAAC 0.652 NA 49 90 9.55421e-19 1.48951e-18 0.00361 1 0 NLRP13 126204 broad.mit.edu 37 19 56410252 56410252 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56410252G>T uc010ygg.1 - 10 2866 c.2841C>A c.(2839-2841)GCC>GCA p.A947A NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 947 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) TATGGCTGAGGGCATTAGCCA 0.438 NA 42 68 5.48756e-27 9.4341e-27 0.011902 1 0 NLRP13 126204 broad.mit.edu 37 19 56424608 56424608 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56424608C>T uc010ygg.1 - 5 600 c.575G>A c.(574-576)TGG>TAG p.W192* NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 192 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) GATGTTGTCCCATGTCTCCAG 0.443 NA 58 151 0 0 0.00361 0 0 NLRP13 126204 broad.mit.edu 37 19 56424611 56424611 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56424611G>T uc010ygg.1 - 5 597 c.572C>A c.(571-573)ACA>AAA p.T191K NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 191 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) GTTGTCCCATGTCTCCAGTAG 0.443 NA 57 147 5.5144e-22 9.12604e-22 0.00361 1 0 NLRP8 126205 broad.mit.edu 37 19 56459432 56459432 + Missense_Mutation SNP G G A rs145268550 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56459432G>A uc002qmh.2 + 1 235 c.164G>A c.(163-165)CGG>CAG p.R55Q NLRP8_uc010etg.2_Missense_Mutation_p.R55Q NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 55 DAPIN. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGCTACAACGGTTCAAGCAG 0.547 NA 6 19 0 0 0.001168 0 0 NLRP5 126206 broad.mit.edu 37 19 56539728 56539728 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56539728T>G uc002qmj.2 + 7 2129 c.2129T>G c.(2128-2130)GTG>GGG p.V710G NLRP5_uc002qmi.2_Missense_Mutation_p.V691G NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 710 LRR 1. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCCAAGAAGTGTGGCTTCCG 0.498 NA 81 134 0 0 0.00361 0 0 NLRP5 126206 broad.mit.edu 37 19 56544988 56544988 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56544988A>T uc002qmj.2 + 9 2528 c.2528A>T c.(2527-2529)AAC>ATC p.N843I NLRP5_uc002qmi.2_Missense_Mutation_p.N824I NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 843 LRR 5. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGATCCCTCAACTTGGGAGGC 0.502 NA 93 130 0 0 0.00361 0 0 PEG3 5178 broad.mit.edu 37 19 57330040 57330040 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:57330040G>A uc002qnu.2 - 5 1051 c.700C>T c.(700-702)CTC>TTC p.L234F ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.L109F|ZIM2_uc002qnq.2_Missense_Mutation_p.L109F|ZIM2_uc010etp.2_Missense_Mutation_p.L109F|ZIM2_uc010ygs.1_Missense_Mutation_p.L109F|PEG3_uc002qnt.2_Missense_Mutation_p.L235F|PEG3_uc002qnv.2_Missense_Mutation_p.L234F|PEG3_uc002qnw.2_Missense_Mutation_p.L109F|PEG3_uc002qnx.2_Missense_Mutation_p.L108F|PEG3_uc010etr.2_Missense_Mutation_p.L234F NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 234 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCTCAGCGAGGTCCACCACA 0.483 NA 46 86 0 0 0.00361 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58849788 58849788 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:58849788G>T uc002qsc.2 + 3 719 c.572G>T c.(571-573)GGG>GTG p.G191V ZSCAN22_uc010yhz.1_Missense_Mutation_p.G186W NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 191 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGACTATCAGGGGAGATCTGG 0.532 NA 22 56 9.95505e-16 1.46409e-15 0.002299 1 0 RRM2 6241 broad.mit.edu 37 2 10269234 10269234 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:10269234A>G uc002rah.2 + 9 1161 c.970A>G c.(970-972)ATT>GTT p.I324V NM_001034 NP_001025 P31350 RIR2_HUMAN ribonucleotide reductase M2 polypeptide isoform 324 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) GAAGCAATACATTGAGTTTGT 0.413 NA 72 124 0 0 0.00361 0 0 WDR35 57539 broad.mit.edu 37 2 20180465 20180465 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:20180465C>A uc002rdi.2 - 4 402 c.294G>T c.(292-294)TGG>TGT p.W98C WDR35_uc002rdj.2_Missense_Mutation_p.W98C|WDR35_uc010ext.2_RNA NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 98 WD 2. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATATAACATCCACACAATGA 0.333 NA 24 50 4.4004e-07 5.27628e-07 0.00333 1 0 APOB 338 broad.mit.edu 37 2 21233989 21233989 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:21233989G>C uc002red.2 - 26 5879 c.5751C>G c.(5749-5751)CTC>CTG p.L1917L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1917 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) CCCAGAGAGCGAGTTTCCCAT 0.443 NA 88 179 0 0 0.00361 0 0 OTOF 9381 broad.mit.edu 37 2 26702462 26702462 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:26702462C>G uc002rhk.2 - 17 2099 c.1972G>C c.(1972-1974)GAG>CAG p.E658Q OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 658 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCCCGGCTCCTTCCGGGGC 0.622 GBM(102;732 1451 20652 24062 31372) NA 24 36 0 0 0.005443 0 0 CAD 790 broad.mit.edu 37 2 27456644 27456644 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:27456644G>T uc002rji.2 + 21 3529 c.3367G>T c.(3367-3369)GTG>TTG p.V1123L CAD_uc010eyw.2_Missense_Mutation_p.V1060L NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1123 CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGAGCATCCCGTGGTCATCTC 0.587 NA 14 43 3.52763e-06 4.08663e-06 0.00499 1 0 BIRC6 57448 broad.mit.edu 37 2 32724814 32724814 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:32724814G>T uc010ezu.2 + 46 8803 c.8669G>T c.(8668-8670)CGA>CTA p.R2890L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2890 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) GTGGGTGCTCGAGCATGCTTT 0.438 Pancreas(94;175 1509 16028 18060 45422) NA 83 153 1.55023e-36 2.84021e-36 0.00361 1 0 LTBP1 4052 broad.mit.edu 37 2 33585790 33585790 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:33585790C>A uc002ros.2 + 27 4130 c.4130C>A c.(4129-4131)TCA>TAA p.S1377* LTBP1_uc002rot.2_Nonsense_Mutation_p.S1051*|LTBP1_uc002rou.2_Nonsense_Mutation_p.S1050*|LTBP1_uc002rov.2_Nonsense_Mutation_p.S997*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.S1008*|LTBP1_uc010yna.1_Nonsense_Mutation_p.S955*|LTBP1_uc010ynb.1_Nonsense_Mutation_p.S274* NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1376 TB 3. 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) TGCTGTACATCAGGCGTGGGA 0.468 NA 37 54 1.836e-18 2.82722e-18 0.003755 1 0 TMEM178 130733 broad.mit.edu 37 2 39931220 39931220 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:39931220G>T uc002rrt.2 + 2 426 c.401_splice c.e2-1 p.G134_splice TMEM178_uc010fam.1_Splice_Site_p.G134_splice NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor integral to membrane 0 all_hematologic(82;0.248) TTTCCTTCAAGGTATTGCGCA 0.443 NA 12 24 9.31168e-06 1.07212e-05 0.001855 1 0 SIX2 10736 broad.mit.edu 37 2 45236176 45236176 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:45236176C>A uc002ruo.2 - 1 367 c.74G>T c.(73-75)GGC>GTC p.G25V SIX2_uc002rup.2_Missense_Mutation_p.G25V NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 25 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTCGATGTTGCCGCCCTGCTG 0.617 NA 3 12 0.00909568 0.0095258 0.009096 1 0 ZNF638 27332 broad.mit.edu 37 2 71591170 71591170 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:71591170G>T uc002shx.2 + 5 1824 c.1505G>T c.(1504-1506)AGT>ATT p.S502I ZNF638_uc010fec.2_Missense_Mutation_p.S608I|ZNF638_uc010yqw.1_Missense_Mutation_p.S81I|ZNF638_uc002shw.2_Missense_Mutation_p.S502I|ZNF638_uc002shy.2_Missense_Mutation_p.S502I|ZNF638_uc002shz.2_Missense_Mutation_p.S502I|ZNF638_uc002sia.2_Missense_Mutation_p.S502I|ZNF638_uc002sib.1_Missense_Mutation_p.S502I|ZNF638_uc010fed.2_5'Flank NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 502 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TCAAGCTCAAGTCACAGATTC 0.458 NA 28 76 5.45727e-16 8.08922e-16 0.008361 1 0 ALMS1 7840 broad.mit.edu 37 2 73675761 73675761 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:73675761G>T uc002sje.1 + 10 2221 c.2110G>T c.(2110-2112)GAC>TAC p.D704Y ALMS1_uc002sjf.1_Missense_Mutation_p.D660Y|ALMS1_uc002sjg.2_Missense_Mutation_p.D90Y|ALMS1_uc002sjh.1_Missense_Mutation_p.D90Y NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 702 4.|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 TGGACCAGCTGACCAGAAGAC 0.478 NA 50 93 6.81593e-30 1.20762e-29 0.00361 1 0 REG3G 130120 broad.mit.edu 37 2 79253910 79253910 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:79253910C>A uc002snw.2 + 3 233 c.148C>A c.(148-150)CCC>ACC p.P50T REG3G_uc002snx.2_Missense_Mutation_p.P50T|REG3G_uc010ffu.2_Missense_Mutation_p.P50T NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 50 C-type lectin. acute-phase response extracellular region sugar binding 0 CTATGGCTCCCCCTGCTATGC 0.522 NA 23 35 2.32416e-17 3.53554e-17 0.002299 1 0 CTNNA2 1496 broad.mit.edu 37 2 79878763 79878763 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:79878763G>T uc010ysh.1 + 1 86 c.81G>T c.(79-81)CTG>CTT p.L27L CTNNA2_uc010yse.1_Silent_p.L27L|CTNNA2_uc010ysf.1_Silent_p.L27L|CTNNA2_uc010ysg.1_Silent_p.L27L|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 27 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGGAAAGGCTGTTGGAGCCAC 0.423 NA 32 36 1.26612e-14 1.80908e-14 0.003271 1 0 CTNNA2 1496 broad.mit.edu 37 2 80816498 80816498 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:80816498G>C uc010ysh.1 + 14 2082 c.2077G>C c.(2077-2079)GAG>CAG p.E693Q CTNNA2_uc010yse.1_Missense_Mutation_p.E693Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.E693Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.E693Q|CTNNA2_uc010ysi.1_Missense_Mutation_p.E325Q|CTNNA2_uc010ysj.1_Missense_Mutation_p.E22Q NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 693 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATTCCATCAAGAGAAAAGCAA 0.488 NA 22 52 0 0 0.010504 0 0 SNRNP200 23020 broad.mit.edu 37 2 96945230 96945230 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:96945230C>A uc002svu.2 - 36 5178 c.5092G>T c.(5092-5094)GAT>TAT p.D1698Y SNRNP200_uc002svt.2_Missense_Mutation_p.D308Y|SNRNP200_uc010yuj.1_RNA NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1698 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CGCCCCTCATCGTCCTGCAAA 0.532 NA 9 16 7.48243e-07 8.88686e-07 0.006214 1 0 RGPD3 653489 broad.mit.edu 37 2 107049613 107049613 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:107049613A>C uc010ywi.1 - 16 2391 c.2334T>G c.(2332-2334)CAT>CAG p.H778Q NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 778 intracellular transport binding ovary(1) 1 ATGGTGTAGAATGTTTTATTT 0.353 NA 32 192 0 0 0.00361 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459835 107459835 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:107459835G>A uc002tdq.2 - 2 718 c.599C>T c.(598-600)TCC>TTC p.S200F ST6GAL2_uc002tdr.2_Missense_Mutation_p.S200F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S200F NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 200 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GAAGGCCCTGGACATGGAGGA 0.612 NA 26 49 0 0 0.00333 0 0 EDAR 10913 broad.mit.edu 37 2 109545663 109545663 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:109545663C>T uc002teq.3 - 4 778 c.347G>A c.(346-348)TGC>TAC p.C116Y EDAR_uc010fjn.2_Missense_Mutation_p.C116Y|EDAR_uc010yws.1_Missense_Mutation_p.C116Y NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 116 TNFR-Cys 3.|Extracellular (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 CCCAGGGAGGCAAGGGCCACA 0.607 NA 8 26 0 0 0.008291 0 0 CCDC93 54520 broad.mit.edu 37 2 118698795 118698795 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:118698795G>C uc002tlj.2 - 19 1618 c.1492C>G c.(1492-1494)CAG>GAG p.Q498E CCDC93_uc010fld.1_Missense_Mutation_p.Q498E NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 498 large_intestine(1)|ovary(1) 2 AATCTCTTCTGATACTGTATT 0.478 NA 40 79 0 0 0.013114 0 0 IWS1 55677 broad.mit.edu 37 2 128252492 128252492 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:128252492C>A uc002ton.2 - 8 2058 c.1755G>T c.(1753-1755)CTG>CTT p.L585L IWS1_uc010yzl.1_RNA NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 585 transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TTAATTTTTTCAGTGCTGGCT 0.259 NA 25 58 7.38237e-10 9.55141e-10 0.00632 1 0 MYO7B 4648 broad.mit.edu 37 2 128322932 128322933 + Missense_Mutation DNP TG TG CT TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:128322932_128322933TG>CT uc002top.2 + 4 310_311 c.257_258TG>CT c.(256-258)CTG>CCT p.L86P NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 86 Myosin head-like. 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) CACAACCTCCTGATCCGCTACC 0.594 NA 16 30 0 0 0.004672 0 0 POTEE 445582 broad.mit.edu 37 2 131984447 131984447 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:131984447G>A uc002tsn.2 + 4 914 c.862G>A c.(862-864)GTG>ATG p.V288M PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 288 ANK 4. ATP binding 0 ACAGCAAGTCGTGAAATTTTT 0.333 NA 29 129 0 0 0.00623 0 0 YSK4 80122 broad.mit.edu 37 2 135745412 135745412 + Missense_Mutation SNP C C A rs145468662 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:135745412C>A uc002tue.1 - 7 1061 c.1030G>T c.(1030-1032)GTT>TTT p.V344F YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.V231F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.V72F|YSK4_uc002tui.3_Missense_Mutation_p.V361F NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 344 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TCTTCCCTAACTGCAGGAATA 0.373 NA 25 33 9.57634e-11 1.28309e-10 0.00333 1 0 TANC1 85461 broad.mit.edu 37 2 160020007 160020007 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:160020007A>T uc002uag.2 + 8 1170 c.896A>T c.(895-897)TAT>TTT p.Y299F TANC1_uc010fol.1_Missense_Mutation_p.Y193F|TANC1_uc010zcm.1_Missense_Mutation_p.Y298F|TANC1_uc010fom.1_Intron NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 299 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CCAGTCCCTTATTCTCAGGGC 0.557 NA 17 36 0 0 0.006122 0 0 BAZ2B 29994 broad.mit.edu 37 2 160287467 160287467 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:160287467G>A uc002uao.2 - 10 2453 c.2101C>T c.(2101-2103)CCA>TCA p.P701S BAZ2B_uc002uap.2_Missense_Mutation_p.P699S|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.P274S NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 701 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GCAGAGCCTGGGGCTTTTGCT 0.463 NA 39 82 0 0 0.007835 0 0 XIRP2 129446 broad.mit.edu 37 2 168101499 168101499 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:168101499C>A uc002udx.2 + 8 3615 c.3597C>A c.(3595-3597)AGC>AGA p.S1199R XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1024R|XIRP2_uc010fpq.2_Missense_Mutation_p.S977R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1024 Xin 19. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATGTTTCCAGCATGAGGTATA 0.333 NA 23 31 2.70639e-06 3.14493e-06 0.002299 1 0 STK39 27347 broad.mit.edu 37 2 168996894 168996894 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:168996894C>A uc002uea.2 - 7 905 c.745G>T c.(745-747)GGC>TGC p.G249C NM_013233 NP_037365 Q9UEW8 STK39_HUMAN serine threonine kinase 39 (STE20/SPS1 homolog, 249 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 AAGTCATAGCCTCTCACCTAA 0.413 NA 20 23 1.64113e-05 1.87808e-05 0.010504 1 0 HOXD10 3236 broad.mit.edu 37 2 176982209 176982209 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:176982209G>A uc002ukj.2 + 1 718 c.648G>A c.(646-648)GTG>GTA p.V216V NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 216 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) TCTCCCAGGTGGAGAGCCCCG 0.642 NA 3 26 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179459155 179459155 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:179459155C>A uc010zfg.1 - 245 50586 c.50362G>T c.(50362-50364)GAG>TAG p.E16788* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E10483*|TTN_uc010zfi.1_Nonsense_Mutation_p.E10416*|TTN_uc010zfj.1_Nonsense_Mutation_p.E10291* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17715 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) ACACGGTACTCATAGGTATCA 0.413 NA 17 86 2.35188e-11 3.17947e-11 0.006122 1 0 TTN 7273 broad.mit.edu 37 2 179460446 179460446 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:179460446C>A uc010zfg.1 - 244 50155 c.49931G>T c.(49930-49932)GGA>GTA p.G16644V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G10339V|TTN_uc010zfi.1_Missense_Mutation_p.G10272V|TTN_uc010zfj.1_Missense_Mutation_p.G10147V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17571 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) TGGAGAGCCTCCATCATCTTC 0.458 NA 6 8 8.12818e-05 9.16246e-05 0.001984 1 0 TTN 7273 broad.mit.edu 37 2 179546142 179546142 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:179546142C>A uc010zfg.1 - 134 29700 c.29476G>T c.(29476-29478)GTG>TTG p.V9826L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6487L|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10753 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) GGAATGGGCACTGGTACTTTT 0.348 NA 8 16 0.000274275 0.000302385 0.004482 1 0 DNAH7 56171 broad.mit.edu 37 2 196913024 196913024 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:196913024G>A uc002utj.3 - 4 347 c.246C>T c.(244-246)TCC>TCT p.S82S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 82 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCTTACCATGGGACTGTTCAT 0.368 NA 24 31 0 0 0.004656 0 0 ICA1L 130026 broad.mit.edu 37 2 203644316 203644316 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:203644316C>T uc002uzh.1 - 14 1553 c.1389G>A c.(1387-1389)TTG>TTA p.L463L ICA1L_uc002uzi.1_Silent_p.L463L NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 463 0 AAAGTGGATCCAAGTCTGCAA 0.378 NA 24 31 0 0 0.00632 0 0 CD28 940 broad.mit.edu 37 2 204599581 204599581 + Silent SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:204599581C>G uc002vah.3 + 4 831 c.609C>G c.(607-609)CGC>CGG p.R203R CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Silent_p.R84R|CD28_uc002vaj.3_RNA NM_006139 NP_006130 P10747 CD28_HUMAN CD28 antigen precursor 203 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity 0 GGCCCACCCGCAAGCATTACC 0.622 NA 14 61 0 0 0.001855 0 0 DYTN 391475 broad.mit.edu 37 2 207527692 207527692 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:207527692T>C uc002vbr.1 - 11 1685 c.1568A>G c.(1567-1569)GAG>GGG p.E523G NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 523 Potential.|Poly-Glu. plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTCCTCTTCCTCCAGCTCATC 0.463 NA 4 192 0 0 0.001168 0 0 MAP2 4133 broad.mit.edu 37 2 210558179 210558179 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:210558179A>T uc002vde.1 + 7 1533 c.1285A>T c.(1285-1287)AGT>TGT p.S429C MAP2_uc002vdc.1_Missense_Mutation_p.S429C|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S425C NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 429 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) TTTCACCCCCAGTGGACAGGA 0.418 Pancreas(27;423 979 28787 29963) NA 22 26 0 0 0.00278 0 0 UNC80 285175 broad.mit.edu 37 2 210642131 210642131 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:210642131C>A uc010zjc.1 + 4 528 c.448C>A c.(448-450)CAC>AAC p.H150N UNC80_uc002vdj.1_Missense_Mutation_p.H150N NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 150 integral to membrane 0 TGCTTTCATCCACCAGGTTGA 0.552 NA 14 50 9.31168e-06 1.07212e-05 0.001855 1 0 MRPL44 65080 broad.mit.edu 37 2 224828609 224828609 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:224828609G>A uc002vnr.3 + 3 854 c.785G>A c.(784-786)GGT>GAT p.G262D NM_022915 NP_075066 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 precursor 262 DRBM. RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity central_nervous_system(1) 1 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGCAGTCTGGTGGCACCACA 0.373 NA 34 37 0 0 0.005524 0 0 DGKD 8527 broad.mit.edu 37 2 234370997 234370997 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:234370997C>A uc002vui.1 + 25 2997 c.2985C>A c.(2983-2985)ATC>ATA p.I995I DGKD_uc002vuj.1_Silent_p.I951I|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 995 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TCTCTAGTATCCGAGAAATAG 0.567 NA 5 35 0.000602214 0.00065911 0.000602 1 0 PRR21 643905 broad.mit.edu 37 2 240982289 240982289 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:240982289G>T uc010zod.1 - 1 111 c.111C>A c.(109-111)CAC>CAA p.H37Q NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 37 ovary(1)|skin(1) 2 AGGGCCATGGGTGAAGAGCCG 0.572 NA 6 9 8.12818e-05 9.16246e-05 0.001984 1 0 ANKMY1 51281 broad.mit.edu 37 2 241463637 241463637 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:241463637C>A uc002vyz.1 - 7 1459 c.1230G>T c.(1228-1230)GAG>GAT p.E410D ANKMY1_uc002vza.1_Missense_Mutation_p.E269D|ANKMY1_uc010fzd.1_Missense_Mutation_p.E499D|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.E269D|ANKMY1_uc002vzd.1_Missense_Mutation_p.E269D|ANKMY1_uc010fze.1_Missense_Mutation_p.E79D|ANKMY1_uc002vze.2_Missense_Mutation_p.E171D NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 410 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGTGGCCGCCCTCGTGGCTGC 0.642 NA 15 44 4.93089e-13 6.87585e-13 0.00245 1 0 CAPN10 11132 broad.mit.edu 37 2 241530258 241530258 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:241530258G>T uc002vzk.1 + 3 484 c.300G>T c.(298-300)TGG>TGT p.W100C CAPN10_uc010zoh.1_Missense_Mutation_p.W100C|CAPN10_uc002vzl.1_Missense_Mutation_p.W100C|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 100 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGCCGAGCTGGGCCGACCAGG 0.637 NA 9 27 0.000274275 0.000302385 0.004482 1 0 PASK 23178 broad.mit.edu 37 2 242066563 242066563 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:242066563C>A uc002wao.1 - 10 1859 c.1767G>T c.(1765-1767)GGG>GGT p.G589G PASK_uc010zol.1_Silent_p.G403G|PASK_uc010zom.1_Silent_p.G554G|PASK_uc010fzl.1_Silent_p.G589G|PASK_uc010zon.1_Silent_p.G370G|PASK_uc002wap.2_Silent_p.G132G|PASK_uc002waq.2_Silent_p.G589G NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 589 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CCACGGCAGCCCCAGCCCAAA 0.647 NA 26 38 1.64293e-13 2.31672e-13 0.00333 1 0 TGM3 7053 broad.mit.edu 37 20 2321104 2321104 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:2321104G>T uc002wfx.3 + 13 2056 c.1959G>T c.(1957-1959)GAG>GAT p.E653D NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 653 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) GGCCCAAGGAGGGGTCCCGGG 0.612 NA 24 113 2.2171e-23 3.70172e-23 0.009535 1 0 PROKR2 128674 broad.mit.edu 37 20 5283097 5283097 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:5283097C>A uc010zqw.1 - 2 744 c.744G>T c.(742-744)CGG>CGT p.R248R PROKR2_uc010zqx.1_Silent_p.R248R|PROKR2_uc010zqy.1_Silent_p.R248R NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 248 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 ACCAGAGCTCCCGGGAGATCC 0.577 NA HNSCC(71;0.22) 22 34 9.95505e-16 1.46409e-15 0.002299 1 0 PLCB4 5332 broad.mit.edu 37 20 9459601 9459601 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:9459601G>T uc002wnf.2 + 37 3629 c.3493G>T c.(3493-3495)GCC>TCC p.A1165S PLCB4_uc010gbx.2_Missense_Mutation_p.A1177S|PLCB4_uc002wne.2_Missense_Mutation_p.S1177I|PLCB4_uc002wnh.2_Missense_Mutation_p.A1012S NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 1165 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 GAAATTGGAAGCCGAGATGGA 0.448 NA 8 24 7.48243e-07 8.88686e-07 0.006214 1 0 PAK7 57144 broad.mit.edu 37 20 9525048 9525048 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:9525048C>A uc002wnl.2 - 9 2382 c.1837G>T c.(1837-1839)GAG>TAG p.E613* PAK7_uc002wnk.2_Nonsense_Mutation_p.E613*|PAK7_uc002wnj.2_Nonsense_Mutation_p.E613*|PAK7_uc010gby.1_Intron NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 613 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GAAATCACCTCAGGGGCCATC 0.502 NA 75 67 1.356e-25 2.31011e-25 0.00361 1 0 NINL 22981 broad.mit.edu 37 20 25485607 25485607 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:25485607C>A uc002wux.1 - 6 699 c.625G>T c.(625-627)GGG>TGG p.G209W NINL_uc010gdn.1_Missense_Mutation_p.G209W|NINL_uc010gdo.1_Missense_Mutation_p.G49W|NINL_uc010ztf.1_Missense_Mutation_p.G225W NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 209 EF-hand 3. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CTGCCCACCCCCAGCTCTTCC 0.657 NA 12 35 7.03913e-09 8.8341e-09 0.001368 1 0 DEFB115 245929 broad.mit.edu 37 20 29845536 29845536 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:29845536G>T uc002wvp.1 + 1 70 c.70G>T c.(70-72)GTG>TTG p.V24L NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN beta-defensin 115 precursor 24 defense response to bacterium extracellular region ovary(1) 1 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) AGTTGTCCTTGTGGTCCTGGC 0.512 NA 37 34 1.30015e-28 2.27677e-28 0.004878 1 0 UQCC 55245 broad.mit.edu 37 20 33999771 33999771 + Translation_Start_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:33999771C>A uc002xcd.2 - 1 63 c.-4G>T c.(-6--2)GAGGA>GATGA UQCC_uc010zuz.1_Translation_Start_Site|UQCC_uc010zva.1_Translation_Start_Site|UQCC_uc002xce.2_Translation_Start_Site|UQCC_uc002xcg.2_Translation_Start_Site|UQCC_uc010gfb.2_Translation_Start_Site|UQCC_uc010zvb.1_Translation_Start_Site|UQCC_uc002xcf.2_Translation_Start_Site|GDF5_uc010gfc.1_Intron|UQCC_uc010gfd.1_Translation_Start_Site NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) CGCCATGTTCCTCAATAACCA 0.567 NA 38 104 1.00001e-27 1.73904e-27 0.009718 1 0 C20orf117 140710 broad.mit.edu 37 20 35444016 35444016 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:35444016T>G uc002xgd.1 - 5 1442 c.1115A>C c.(1114-1116)CAG>CCG p.Q372P C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 372 0 Myeloproliferative disorder(115;0.00874) CCGCGTACTCTGGCAGGAGGC 0.662 NA 3 14 0 0 0.004672 0 0 SLC12A5 57468 broad.mit.edu 37 20 44684841 44684841 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:44684841C>T uc010zxl.1 + 22 2985 c.2909C>T c.(2908-2910)GCC>GTC p.A970V SLC12A5_uc002xrb.2_Missense_Mutation_p.A947V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 970 Cytoplasmic (Potential). 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) AAGAATCCAGCCAACACGCGG 0.582 NA 15 24 0 0 0.003163 0 0 KCNB1 3745 broad.mit.edu 37 20 47989700 47989700 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:47989700G>T uc002xur.1 - 2 2561 c.2397C>A c.(2395-2397)AGC>AGA p.S799R KCNB1_uc002xus.1_Missense_Mutation_p.S799R NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 799 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTAAAGGGGAGCTTTCAAAGT 0.522 NA 103 245 2.32112e-61 4.51628e-61 0.00361 1 0 B4GALT5 9334 broad.mit.edu 37 20 48263586 48263586 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:48263586T>A uc002xuu.3 - 3 474 c.280A>T c.(280-282)ACC>TCC p.T94S NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 94 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) TGCAGGAAGGTTTCACTGTGG 0.443 NA 31 157 0 0 0.012213 0 0 ADNP 23394 broad.mit.edu 37 20 49510039 49510039 + Silent SNP C C T rs139951165 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:49510039C>T uc002xvt.1 - 5 1557 c.1212G>A c.(1210-1212)TCG>TCA p.S404S ADNP_uc002xvu.1_Silent_p.S404S NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 404 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TTAACTGGCCCGATGAGAGAG 0.562 NA 8 119 0 0 0.00308 0 0 NFATC2 4773 broad.mit.edu 37 20 50139662 50139662 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:50139662G>T uc002xwd.2 - 2 1338 c.1118C>A c.(1117-1119)CCC>CAC p.P373H NFATC2_uc002xwc.2_Missense_Mutation_p.P373H|NFATC2_uc010zyv.1_Missense_Mutation_p.P154H|NFATC2_uc010zyw.1_Missense_Mutation_p.P154H|NFATC2_uc010zyx.1_Missense_Mutation_p.P353H|NFATC2_uc010zyy.1_Missense_Mutation_p.P154H|NFATC2_uc010zyz.1_Missense_Mutation_p.P154H|NFATC2_uc002xwe.2_Missense_Mutation_p.P353H NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 373 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GGGCCAAGTGGGCGGAACCAG 0.577 NA 34 200 1.57351e-24 2.65663e-24 0.003755 1 0 CTCFL 140690 broad.mit.edu 37 20 56098871 56098871 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:56098871G>T uc010gix.1 - 1 1053 c.391C>A c.(391-393)CAG>AAG p.Q131K CTCFL_uc010giw.1_Missense_Mutation_p.Q131K|CTCFL_uc002xym.2_Missense_Mutation_p.Q131K|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjb.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjc.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjd.1_Missense_Mutation_p.Q131K|CTCFL_uc010gje.2_Missense_Mutation_p.Q131K|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.Q131K|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjk.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjl.1_Missense_Mutation_p.Q131K NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 131 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) ACACACTGCTGCAGGCTCTGC 0.592 NA 17 119 5.03518e-11 6.78264e-11 0.007413 1 0 ZNF831 128611 broad.mit.edu 37 20 57829372 57829372 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:57829372G>C uc002yan.2 + 5 4608 c.4608G>C c.(4606-4608)GAG>GAC p.E1536D NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1536 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCACAGAAGAGGGCAGAGCAC 0.493 NA 11 12 0 0 0.008291 0 0 GTPBP5 26164 broad.mit.edu 37 20 60776117 60776117 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:60776117A>T uc002yce.3 + 7 1243 c.1205A>T c.(1204-1206)CAG>CTG p.Q402L GTPBP5_uc011aab.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aac.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aad.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aae.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aaf.1_Missense_Mutation_p.Q244L NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 402 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) CAGGGCCGCCAGCCGCTCAGG 0.632 NA 4 14 0 0 0.001168 0 0 NCAM2 4685 broad.mit.edu 37 21 22838976 22838976 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:22838976G>T uc002yld.1 + 13 1953 c.1704G>T c.(1702-1704)AGG>AGT p.R568S NCAM2_uc011acb.1_Missense_Mutation_p.R426S NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 568 Fibronectin type-III 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATGAAATCAGGGTTGCAGCTG 0.279 NA 4 10 0.00909568 0.0095258 0.009096 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28306969 28306969 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:28306969C>A uc002ymg.2 - 4 2234 c.1505G>T c.(1504-1506)GGG>GTG p.G502V NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 502 Disintegrin. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GTACTCAGGCCCGAATGTCAG 0.592 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 4 22 0.00909568 0.0095258 0.009096 1 0 RNF160 26046 broad.mit.edu 37 21 30343757 30343757 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:30343757C>A uc002ymr.2 - 7 971 c.958G>T c.(958-960)GCT>TCT p.A320S RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 274 ligase activity|zinc ion binding 0 TCAAAATAAGCTGAGCGAATC 0.318 NA 10 80 3.07112e-06 3.56325e-06 0.010729 1 0 TIAM1 7074 broad.mit.edu 37 21 32537342 32537342 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:32537342G>A uc002yow.1 - 17 3400 c.2928C>T c.(2926-2928)ACC>ACT p.T976T TIAM1_uc011adk.1_Silent_p.T976T|TIAM1_uc011adl.1_Silent_p.T916T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 976 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CCTCTGGAGCGGTCTCAGCAC 0.502 NA 5 34 0 0 0.000602 0 0 SIM2 6493 broad.mit.edu 37 21 38114105 38114105 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:38114105T>C uc002yvr.2 + 8 994 c.938T>C c.(937-939)GTG>GCG p.V313A SIM2_uc002yvq.2_Missense_Mutation_p.V313A NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 313 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 TACGCCACCGTGGTGCACAAC 0.522 NA 6 9 0 0 0.001984 0 0 TTC3 7267 broad.mit.edu 37 21 38459658 38459658 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:38459658G>T uc002yvz.2 + 2 206 c.101G>T c.(100-102)AGC>ATC p.S34I TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.S34I|TTC3_uc002ywb.2_Missense_Mutation_p.S34I|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.S34I NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 34 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) GAATTTATGAGCAATGATTAT 0.398 Ovarian(38;194 1649 35661) NA 53 163 2.27459e-33 4.11723e-33 0.00361 1 0 UBASH3A 53347 broad.mit.edu 37 21 43833217 43833217 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:43833217C>A uc002zbe.2 + 4 475 c.439C>A c.(439-441)CCT>ACT p.P147T UBASH3A_uc002zbf.2_Missense_Mutation_p.P147T|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.P147T NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 147 cytosol|nucleus ovary(3) 3 CACGGCCGTGCCTCTGGCTCT 0.617 NA 23 87 6.44725e-10 8.38477e-10 0.002299 1 0 RRP1B 23076 broad.mit.edu 37 21 45106693 45106693 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:45106693A>G uc002zdk.2 + 12 1132 c.1018A>G c.(1018-1020)ATA>GTA p.I340V RRP1B_uc002zdl.2_5'UTR NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 340 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) AGGAAGCAGTATATCTCAACT 0.473 NA 25 35 0 0 0.003954 0 0 TRPM2 7226 broad.mit.edu 37 21 45815319 45815320 + Nonsense_Mutation DNP CC CC AA rs144976050 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:45815319_45815320CC>AA uc002zet.1 + 13 2030_2031 c.1817_1818CC>AA c.(1816-1818)TCC>TAA p.S606* TRPM2_uc002zeu.1_Nonsense_Mutation_p.S606*|TRPM2_uc002zew.1_Nonsense_Mutation_p.S606*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.S606*|TRPM2_uc002zex.1_Nonsense_Mutation_p.S392*|TRPM2_uc002zey.1_Nonsense_Mutation_p.S119* NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 606 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGCCTCCGGTCCCTCTACAAGC 0.455 NA 12 80 0 0 0.004672 0 0 TRPM2 7226 broad.mit.edu 37 21 45819256 45819256 + Nonsense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:45819256A>T uc002zet.1 + 15 2353 c.2140A>T c.(2140-2142)AAG>TAG p.K714* TRPM2_uc002zeu.1_Nonsense_Mutation_p.K714*|TRPM2_uc002zew.1_Nonsense_Mutation_p.K714*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.K714*|TRPM2_uc002zex.1_Nonsense_Mutation_p.K500*|TRPM2_uc002zey.1_Nonsense_Mutation_p.K227* NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 714 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGCCTGGGGGAAGACCACCTG 0.622 NA 10 29 0 0 0.010729 0 0 POTEH 23784 broad.mit.edu 37 22 16287715 16287715 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:16287715G>T uc010gqp.2 - 1 223 c.171C>A c.(169-171)CTC>CTA p.L57L POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 57 skin(1) 1 TCTTGCTCCTGAGTGTCTTCA 0.612 NA 71 491 3.17147e-52 6.12338e-52 0.00361 1 0 MICAL3 57553 broad.mit.edu 37 22 18301459 18301459 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:18301459A>C uc002zng.3 - 26 4321 c.3968T>G c.(3967-3969)CTG>CGG p.L1323R MICAL3_uc011agl.1_Missense_Mutation_p.L1239R NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1323 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CTCCTCCACCAGGTCGCTCCG 0.657 NA 22 65 0 0 0.00333 0 0 HIRA 7290 broad.mit.edu 37 22 19318997 19318997 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:19318997C>A uc002zpf.1 - 25 3240 c.3020G>T c.(3019-3021)TGT>TTT p.C1007F HIRA_uc011agx.1_Silent_p.V843V|HIRA_uc010grn.1_Missense_Mutation_p.C800F|HIRA_uc010gro.1_Missense_Mutation_p.C963F NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 1007 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) CTGTTCCTGACACTCGGTGAA 0.622 NA 13 55 3.27435e-08 4.01561e-08 0.00245 1 0 MED15 51586 broad.mit.edu 37 22 20937232 20937232 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:20937232A>T uc002zsp.2 + 11 1595 c.1515A>T c.(1513-1515)TCA>TCT p.S505S MED15_uc002zsq.2_Silent_p.S465S|MED15_uc010gso.2_Silent_p.S448S|MED15_uc002zsr.2_Silent_p.S439S|MED15_uc011ahs.1_Silent_p.S439S|MED15_uc002zss.2_Silent_p.S384S|MED15_uc011ahu.1_Silent_p.S215S|MED15_uc002zst.2_Silent_p.S121S|MED15_uc002zsu.2_Silent_p.S110S NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 505 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTGTCCCCTCACCTGGACCTT 0.617 NA 20 36 0 0 0.010504 0 0 PRAME 23532 broad.mit.edu 37 22 22891032 22891032 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:22891032T>A uc002zwf.2 - 5 1143 c.987A>T c.(985-987)ATA>ATT p.I329I LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.I313I|PRAME_uc010gtr.2_Silent_p.I329I|PRAME_uc002zwg.2_Silent_p.I329I|PRAME_uc002zwh.2_Silent_p.I329I|PRAME_uc002zwi.2_Silent_p.I329I|PRAME_uc002zwj.2_Silent_p.I329I|PRAME_uc002zwk.2_Silent_p.I329I NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 329 LRR 1. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GGCAGTTAGTTATTGAGAGGG 0.547 Melanoma(73;1707 1838 15168 27201) NA 53 68 0 0 0.00361 0 0 CRYBB2 1415 broad.mit.edu 37 22 25627657 25627657 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:25627657C>A uc003abp.1 + 6 584 c.536C>A c.(535-537)GCC>GAC p.A179D NM_000496 NP_000487 P43320 CRBB2_HUMAN crystallin, beta B2 179 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens 0 GACTTTGGGGCCCCTCACCCC 0.652 NA 39 63 2.26627e-22 3.76712e-22 0.007835 1 0 SF3A1 10291 broad.mit.edu 37 22 30738254 30738254 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:30738254T>C uc003ahl.2 - 6 944 c.812A>G c.(811-813)TAT>TGT p.Y271C NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 271 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 GATCTGAGCATAGGCCACCCG 0.448 NA 15 27 0 0 0.003163 0 0 DEPDC5 9681 broad.mit.edu 37 22 32233048 32233048 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:32233048C>T uc003als.2 + 26 2376 c.2234C>T c.(2233-2235)CCC>CTC p.P745L DEPDC5_uc011als.1_Missense_Mutation_p.P676L|DEPDC5_uc011alu.1_Missense_Mutation_p.P754L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.P745L|DEPDC5_uc003alu.2_Missense_Mutation_p.P194L|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.P75L|DEPDC5_uc003alw.2_Missense_Mutation_p.P43L|DEPDC5_uc011alx.1_Intron NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 745 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GCGTGCCTCCCCCTTACCACC 0.572 NA 17 64 0 0 0.004007 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37462912 37462912 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:37462912C>A uc003aqs.1 - 17 2345 c.2231G>T c.(2230-2232)CGC>CTC p.R744L TMPRSS6_uc003aqt.1_Missense_Mutation_p.R757L NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 744 Peptidase S1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 ACACAGCATGCGTGGCGTCAC 0.617 NA 6 21 4.36969e-10 5.70256e-10 0.001855 1 0 ITPR1 3708 broad.mit.edu 37 3 4695532 4695532 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:4695532C>T uc003bqa.2 + 12 1306 c.958C>T c.(958-960)CCT>TCT p.P320S ITPR1_uc010hca.1_Intron|ITPR1_uc011asu.1_Missense_Mutation_p.P320S|ITPR1_uc010hcb.1_Intron NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 320 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TCAGGTAGACCCTGACTTTGA 0.468 NA 9 11 0 0 0.006214 0 0 FGD5 152273 broad.mit.edu 37 3 14861826 14861826 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:14861826G>A uc003bzc.2 + 1 1358 c.1248G>A c.(1246-1248)GTG>GTA p.V416V FGD5_uc011avk.1_Silent_p.V416V NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 416 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 TGGTGGTCGTGCTGGAGGAGG 0.672 NA 9 38 0 0 0.008291 0 0 TOP2B 7155 broad.mit.edu 37 3 25665829 25665829 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:25665829G>C uc011awn.1 - 20 2497 c.2454C>G c.(2452-2454)GGC>GGG p.G818G TOP2B_uc003cdj.2_Silent_p.G813G NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 818 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CAGCATCTTTGCCACCATGAA 0.363 NA 4 104 0 0 0.000602 0 0 USP4 7375 broad.mit.edu 37 3 49343230 49343230 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:49343230C>A uc003cwq.2 - 9 1125 c.1046G>T c.(1045-1047)GGG>GTG p.G349V USP4_uc003cwo.2_Missense_Mutation_p.G79V|USP4_uc003cwp.2_Missense_Mutation_p.G79V|USP4_uc003cwr.2_Missense_Mutation_p.G302V NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 349 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TGCAATTTCCCCTTTCATCCC 0.458 NA 16 53 2.31682e-05 2.64328e-05 0.003163 1 0 SEMA3F 6405 broad.mit.edu 37 3 50225348 50225348 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:50225348G>A uc003cyj.2 + 19 2356 c.2158G>A c.(2158-2160)GCA>ACA p.A720T SEMA3F_uc003cyk.2_Missense_Mutation_p.A689T NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 720 axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACCCCCAGGCGCAGGCCCCCC 0.667 NA 4 8 0 0 0.001168 0 0 RAD54L2 23132 broad.mit.edu 37 3 51679122 51679122 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:51679122C>T uc011bdt.1 + 16 2658 c.2533C>T c.(2533-2535)CAG>TAG p.Q845* RAD54L2_uc003dbh.2_Nonsense_Mutation_p.Q434*|RAD54L2_uc011bdu.1_Nonsense_Mutation_p.Q539*|RAD54L2_uc003dbj.2_Nonsense_Mutation_p.Q171* NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 845 Helicase C-terminal. nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CCATGATGCCCAGGCAGTATG 0.488 NA 21 48 0 0 0.010504 0 0 IQCF2 389123 broad.mit.edu 37 3 51897343 51897343 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:51897343C>T uc003dbt.1 + 3 490 c.452C>T c.(451-453)ACA>ATA p.T151I IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 151 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGTGTGGTCACAGCCACTCAC 0.547 NA 30 85 0 0 0.003755 0 0 RFT1 91869 broad.mit.edu 37 3 53156537 53156537 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:53156537G>T uc003dgj.2 - 4 363 c.309C>A c.(307-309)ATC>ATA p.I103I RFT1_uc003dgk.2_Silent_p.I64I NM_052859 NP_443091 Q96AA3 RFT1_HUMAN RFT1 homolog 103 Helical; (Potential). carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GCTGCAACCAGATCCAGCCCA 0.413 NA 19 26 2.39187e-15 3.50264e-15 0.008871 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54786654 54786654 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:54786654G>T uc003dhf.2 + 12 1244 c.1196G>T c.(1195-1197)CGA>CTA p.R399L CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R305L|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R133L NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 399 Extracellular (Potential).|VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTCATTGGACGAGAGGCTGCG 0.512 NA 11 18 2.80697e-09 3.5764e-09 0.010729 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64672544 64672544 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:64672544C>T uc003dmg.2 - 2 248 c.216G>A c.(214-216)ACG>ACA p.T72T ADAMTS9_uc011bfo.1_Silent_p.T72T|ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Silent_p.T72T|uc003dml.2_Intron NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 72 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGCTCCGTCGCGTTCTTTTGA 0.468 NA 10 23 0 0 0.008291 0 0 EIF4E3 317649 broad.mit.edu 37 3 71748851 71748851 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:71748851C>A uc003dov.3 - 3 266 c.258G>T c.(256-258)TGG>TGT p.W86C EIF4E3_uc011bgc.1_5'UTR|EIF4E3_uc003dox.2_5'UTR|EIF4E3_uc011bgd.1_5'UTR|EIF4E3_uc010hoc.2_5'UTR NM_001134651 NP_001128123 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E 86 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) TGTATACACTCCAAAATATCT 0.318 NA 22 67 8.10497e-08 9.89148e-08 0.010504 1 0 HTR1F 3355 broad.mit.edu 37 3 88040284 88040284 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:88040284G>A uc003dqr.2 + 2 543 c.385G>A c.(385-387)GTT>ATT p.V129I NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 129 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CACAGATGCTGTTGAGTATGC 0.433 NA 6 30 0 0 0.001168 0 0 IMPG2 50939 broad.mit.edu 37 3 100963380 100963380 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:100963380C>T uc003duq.1 - 13 1998 c.1795G>A c.(1795-1797)GGT>AGT p.G599S IMPG2_uc011bhe.1_Missense_Mutation_p.G462S NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 599 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CCTAAACCACCGTCAAATATT 0.468 NA 28 121 0 0 0.012213 0 0 ZPLD1 131368 broad.mit.edu 37 3 102157407 102157407 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:102157407T>A uc003dvs.1 + 9 958 c.76T>A c.(76-78)TGT>AGT p.C26S ZPLD1_uc003dvt.1_Missense_Mutation_p.C42S|ZPLD1_uc011bhg.1_Missense_Mutation_p.C26S NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 26 Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 CGGCTACAACTGTGATGCCAA 0.408 NA 14 27 0 0 0.001855 0 0 MORC1 27136 broad.mit.edu 37 3 108698419 108698419 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:108698419G>T uc003dxl.2 - 24 2507 c.2420C>A c.(2419-2421)GCG>GAG p.A807E MORC1_uc011bhn.1_Missense_Mutation_p.A786E NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 807 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTGAGAAGACGCTGGCGAAGA 0.413 NA 30 62 3.65163e-15 5.27769e-15 0.00632 1 0 CCDC80 151887 broad.mit.edu 37 3 112358661 112358661 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:112358661C>A uc003dzf.2 - 2 310 c.92G>T c.(91-93)GGC>GTC p.G31V CCDC80_uc011bhv.1_Missense_Mutation_p.G31V|CCDC80_uc003dzg.2_Missense_Mutation_p.G31V|CCDC80_uc003dzh.1_Missense_Mutation_p.G31V NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 31 ovary(2) 2 TCCGTGGCTGCCTCTAATAGT 0.552 NA 17 44 5.35267e-07 6.39771e-07 0.007413 1 0 WDR52 55779 broad.mit.edu 37 3 113084979 113084979 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:113084979C>A uc003eae.1 - 19 2668 c.2622G>T c.(2620-2622)GTG>GTT p.V874V WDR52_uc003ead.1_Silent_p.V55V NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 874 WD 9. central_nervous_system(1) 1 CTCCAGCAGTCACCAAGAAAC 0.373 NA 18 69 1.56452e-12 2.16959e-12 0.007413 1 0 KIAA1407 57577 broad.mit.edu 37 3 113724429 113724429 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:113724429T>A uc003eax.2 - 10 1941 c.1794A>T c.(1792-1794)GCA>GCT p.A598A KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.A576A|KIAA1407_uc011bip.1_Silent_p.A585A NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 598 ovary(2) 2 CTTCTGTGACTGCTAAGGCAT 0.493 NA 60 89 0 0 0.00361 0 0 DRD3 1814 broad.mit.edu 37 3 113890579 113890579 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:113890579T>A uc003ebd.2 - 3 684 c.261A>T c.(259-261)GTA>GTT p.V87V DRD3_uc010hqn.1_Silent_p.V87V|DRD3_uc003ebb.1_Silent_p.V87V|DRD3_uc003ebc.1_Silent_p.V87V NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 87 Helical; Name=2. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CCTCCAGGTATACCACCCAGG 0.547 NA 26 71 0 0 0.00632 0 0 C3orf15 89876 broad.mit.edu 37 3 119462963 119462963 + Missense_Mutation SNP C C T rs139653997 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:119462963C>T uc003ede.3 + 14 1899 c.1822C>T c.(1822-1824)CGG>TGG p.R608W C3orf15_uc010hqz.2_Missense_Mutation_p.R546W|C3orf15_uc011bjd.1_Missense_Mutation_p.R482W|C3orf15_uc011bje.1_Missense_Mutation_p.R588W NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 444 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) GCGCCAGCGGCGGGTACGAGA 0.587 NA 18 45 0 0 0.008871 0 0 PARP14 54625 broad.mit.edu 37 3 122446791 122446791 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:122446791G>T uc003efq.3 + 16 5133 c.5074G>T c.(5074-5076)GTC>TTC p.V1692F PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.V1409F NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1692 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CGTGCCACACGTCAATCGAAA 0.498 NA 12 21 0.00010058 0.000112536 0.001368 1 0 CCDC14 64770 broad.mit.edu 37 3 123634422 123634422 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:123634422G>T uc011bjx.1 - 13 2157 c.2066C>A c.(2065-2067)TCC>TAC p.S689Y CCDC14_uc003egv.3_Missense_Mutation_p.S330Y|CCDC14_uc003egx.3_Missense_Mutation_p.S489Y|CCDC14_uc010hrt.2_Missense_Mutation_p.S648Y|CCDC14_uc003egy.3_Missense_Mutation_p.S489Y|CCDC14_uc003egz.2_Intron NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 689 S -> P (in Ref. 2; BAH11968). centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) GCTCATTATGGAAGTGTGAGC 0.388 NA 32 72 7.72975e-29 1.35676e-28 0.002836 1 0 PLXND1 23129 broad.mit.edu 37 3 129293305 129293305 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:129293305G>T uc003emx.2 - 12 2659 c.2559C>A c.(2557-2559)AGC>AGA p.S853R NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 853 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AACAGTCGGGGCTGCCCATGG 0.672 Ovarian(97;366 1484 3738 22084 39045) NA 9 18 0.000442599 0.00048512 0.006214 1 0 CLSTN2 64084 broad.mit.edu 37 3 140251280 140251280 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:140251280C>A uc003etn.2 + 9 1649 c.1459C>A c.(1459-1461)CAT>AAT p.H487N CLSTN2_uc003etm.2_Missense_Mutation_p.H487N NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 487 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 CTGGCCCATTCATCCATCTCA 0.458 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 32 68 2.42023e-17 3.66687e-17 0.003271 1 0 CLSTN2 64084 broad.mit.edu 37 3 140277558 140277558 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:140277558C>A uc003etn.2 + 12 2090 c.1900C>A c.(1900-1902)CGG>AGG p.R634R NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 634 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 CATCGAGCCCCGGATCACCCT 0.557 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 19 59 1.2644e-06 1.49231e-06 0.010504 1 0 CHST2 9435 broad.mit.edu 37 3 142840944 142840944 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:142840944T>A uc003evm.2 + 2 2175 c.1286T>A c.(1285-1287)GTG>GAG p.V429E NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 429 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 GAGGACCTGGTGGGAGACCCC 0.587 NA 19 21 0 0 0.010504 0 0 GPR149 344758 broad.mit.edu 37 3 154055976 154055976 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:154055976G>A uc003faa.2 - 4 1808 c.1708C>T c.(1708-1710)CTT>TTT p.L570F NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 570 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAGGTAGAAAGAGATAGGGTT 0.468 NA 99 128 0 0 0.00361 0 0 GMPS 8833 broad.mit.edu 37 3 155632279 155632279 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:155632279C>A uc003faq.2 + 8 1293 c.958C>A c.(958-960)CGG>AGG p.R320R GMPS_uc011bom.1_Silent_p.R221R NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 320 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TAGAACCCCACGGAAAAGAAT 0.358 Ovarian(153;896 1876 4149 15499 28134) NA T MLL AML 31 68 2.47511e-08 3.06035e-08 0.008361 1 0 PPM1L 151742 broad.mit.edu 37 3 160783208 160783208 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:160783208G>T uc003fdr.2 + 3 693 c.592G>T c.(592-594)GCT>TCT p.A198S PPM1L_uc003fds.2_Missense_Mutation_p.A19S|PPM1L_uc003fdt.2_Missense_Mutation_p.A71S|PPM1L_uc010hwf.2_RNA NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 198 Cytoplasmic (Potential).|PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GTGTTTGATTGCTCTGCTATC 0.488 Pancreas(86;250 1994 13715 43211) NA 24 72 7.92952e-12 1.08365e-11 0.003954 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906717 164906717 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:164906717C>A uc003fej.3 - 2 2346 c.1902G>T c.(1900-1902)GGG>GGT p.G634G SLITRK3_uc003fek.2_Silent_p.G634G NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 634 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TGGTTGGTGCCCCAATAAGGT 0.527 NA HNSCC(40;0.11) 6 12 0.00116845 0.00125871 0.001168 1 0 SAMD7 344658 broad.mit.edu 37 3 169637321 169637322 + Missense_Mutation DNP AG AG TT TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:169637321_169637322AG>TT uc003fgd.2 + 3 302_303 c.35_36AG>TT c.(34-36)CAG>CTT p.Q12L SAMD7_uc003fge.2_Missense_Mutation_p.Q12L|SAMD7_uc011bpo.1_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 12 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CCAACAGGGCAGCAGACAATCC 0.431 NA 30 51 0 0 0.004672 0 0 NLGN1 22871 broad.mit.edu 37 3 173322536 173322536 + Missense_Mutation SNP G G T rs79808130 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:173322536G>T uc003fio.1 + 3 571 c.148G>T c.(148-150)GAT>TAT p.D50Y NLGN1_uc010hww.1_Missense_Mutation_p.D50Y|NLGN1_uc003fip.1_Missense_Mutation_p.D50Y NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 50 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AAAATTGGATGATGTGGACCC 0.458 NA 40 72 3.09479e-21 5.0441e-21 0.006999 1 0 MCF2L2 23101 broad.mit.edu 37 3 182947468 182947468 + Nonsense_Mutation SNP G G T rs149684646 by1000genomes TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:182947468G>T uc003fli.1 - 17 2121 c.2031C>A c.(2029-2031)TAC>TAA p.Y677* MCF2L2_uc003flj.1_Nonsense_Mutation_p.Y677*|MCF2L2_uc011bqr.1_RNA NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 677 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGTGAAATTCGTAAAGTTCTC 0.333 NA 41 71 1.22674e-20 1.98227e-20 0.00874 1 0 EPHB3 2049 broad.mit.edu 37 3 184290644 184290644 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:184290644G>T uc003foz.2 + 3 973 c.536G>T c.(535-537)CGC>CTC p.R179L NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 179 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) ACCAAGGTGCGCAGCTTTGGG 0.602 NA 13 21 4.36969e-10 5.70256e-10 0.001855 1 0 LRRC15 131578 broad.mit.edu 37 3 194080235 194080236 + Missense_Mutation DNP TC TC AT TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:194080235_194080236TC>AT uc003ftu.2 - 2 1623_1624 c.1537_1538GA>AT c.(1537-1539)GAA>ATA p.E513I LRRC15_uc003ftt.2_Missense_Mutation_p.E519I NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 513 Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGTGTAGTCTTCCACAGGGCTG 0.554 NA 21 38 0 0 0.004672 0 0 TFRC 7037 broad.mit.edu 37 3 195794416 195794416 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:195794416G>C uc003fvz.3 - 9 1296 c.1013C>G c.(1012-1014)TCC>TGC p.S338C TFRC_uc003fwa.3_Missense_Mutation_p.S338C|TFRC_uc010hzy.2_Missense_Mutation_p.S257C|TFRC_uc011btr.1_Missense_Mutation_p.S56C NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 338 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AGCAGCTCTGGAGATTGTCTG 0.428 NA T BCL6 NHL 14 56 0 0 0.004007 0 0 ABCA11P 79963 broad.mit.edu 37 4 420484 420484 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:420484T>C uc003gae.2 - 5 957 c.422A>G c.(421-423)AAA>AGA p.K141R ABCA11P_uc003gac.2_Missense_Mutation_p.K90R|ABCA11P_uc003gad.2_RNA|ABCA11P_uc011buv.1_3'UTR|ABCA11P_uc010ibd.1_Missense_Mutation_p.K141R RecName: Full=Putative ATP-binding cassette sub-family A member 11; 0 AACTTCACTTTTTAACACAAA 0.393 NA 24 48 0 0 0.00278 0 0 RNF212 285498 broad.mit.edu 37 4 1066813 1066813 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:1066813G>A uc003gcj.2 - 10 1073 c.743C>T c.(742-744)ACC>ATC p.T248I RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_Silent_p.H230H|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR NM_001131034 NP_001124506 Q495C1 RN212_HUMAN ring finger protein 212 isoform a 248 zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) TTTAGAGTTGGTGAGTTCCCC 0.527 NA OREG0016028 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 38 0 0 0.001368 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401268 11401268 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:11401268G>A uc003gmq.2 - 2 685 c.362C>T c.(361-363)CCC>CTC p.P121L NM_005114 NP_005105 O14792 HS3S1_HUMAN heparan sulfate D-glucosaminyl 121 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity skin(1) 1 GAAATACGCGGGGGTCTTCTC 0.612 NA 22 58 0 0 0.012319 0 0 LDB2 9079 broad.mit.edu 37 4 16597466 16597466 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:16597466T>C uc003goz.2 - 3 584 c.268A>G c.(268-270)AGC>GGC p.S90G LDB2_uc003gpa.2_Missense_Mutation_p.S90G|LDB2_uc003gpb.2_Missense_Mutation_p.S90G|LDB2_uc011bxh.1_Missense_Mutation_p.S90G|LDB2_uc010iee.2_Missense_Mutation_p.S90G|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 90 LIM domain binding|transcription cofactor activity 0 AACACAGTGCTAAAGTAACGG 0.498 NA 4 37 0 0 0.000602 0 0 BEND4 389206 broad.mit.edu 37 4 42145907 42145907 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:42145907T>A uc003gwn.2 - 3 1172 c.592A>T c.(592-594)ATT>TTT p.I198F BEND4_uc003gwm.2_Missense_Mutation_p.I198F|BEND4_uc011byy.1_Missense_Mutation_p.I198F NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 198 0 ACGCAAGAAATCATGGACTGA 0.473 NA 9 13 0 0 0.006214 0 0 EPHA5 2044 broad.mit.edu 37 4 66535311 66535311 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:66535311G>T uc003hcy.2 - 1 343 c.150C>A c.(148-150)CTC>CTA p.L50L EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Silent_p.L50L|EPHA5_uc011cah.1_Silent_p.L50L|EPHA5_uc011cai.1_Silent_p.L50L|EPHA5_uc003hda.2_Silent_p.L50L|uc003hdb.2_5'Flank NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 50 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GGAGGGTCCGGAGTGCGGCGC 0.726 NA TSP Lung(17;0.13) 15 16 4.63292e-17 7.0052e-17 0.008871 1 0 UBA6 55236 broad.mit.edu 37 4 68562390 68562390 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:68562390G>C uc003hdg.3 - 2 159 c.107C>G c.(106-108)TCT>TGT p.S36C UBA6_uc003hdi.2_Missense_Mutation_p.S36C|UBA6_uc003hdj.2_Missense_Mutation_p.S36C NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 36 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 GATTTCCACAGATGCTGTTGA 0.284 NA 19 37 0 0 0.010504 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68938049 68938049 + Missense_Mutation SNP C C G rs150716612 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:68938049C>G uc003hdt.1 - 5 555 c.506G>C c.(505-507)AGA>ACA p.R169T LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 169 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 ACGTGTGAGTCTAAATGATGG 0.284 NA 28 17 0 0 0.009535 0 0 UGT2B15 7366 broad.mit.edu 37 4 69513061 69513061 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:69513061C>T uc011cal.1 - 6 1392 c.1354G>A c.(1354-1356)GAC>AAC p.D452N NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 452 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 ATTGGTTGGTCATGATGAATT 0.388 NA 33 114 0 0 0.003271 0 0 IGJ 3512 broad.mit.edu 37 4 71532144 71532144 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:71532144C>G uc003hfn.3 - 1 205 c.64G>C c.(64-66)GCC>CCC p.A22P IGJ_uc010ihz.2_Missense_Mutation_p.G22R NM_144646 NP_653247 P01591 IGJ_HUMAN immunoglobulin J chain 22 immune response extracellular region antigen binding 0 Lung(101;0.235) TATCACATACCTTTCACATGA 0.363 NA 23 36 0 0 0.004656 0 0 AFP 174 broad.mit.edu 37 4 74313357 74313357 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:74313357A>G uc003hgz.1 + 8 1069 c.1022A>G c.(1021-1023)CAA>CGA p.Q341R AFP_uc003hha.1_Missense_Mutation_p.Q341R|AFP_uc011cbg.1_Missense_Mutation_p.Q115R NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 341 Albumin 2. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GATTTTAACCAATTTTCTTCA 0.353 NA Alpha-Fetoprotein_Hereditary_Persistence_of 13 23 0 0 0.00499 0 0 WDFY3 23001 broad.mit.edu 37 4 85724621 85724621 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:85724621C>A uc003hpd.2 - 16 2838 c.2430_splice c.e16-1 p.R810_splice NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATATGCATGCCTATAAAAAAA 0.368 NA 20 35 3.62473e-10 4.74682e-10 0.012319 1 0 UNC5C 8633 broad.mit.edu 37 4 96140382 96140382 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:96140382G>T uc003htp.1 - 9 1537 c.1383C>A c.(1381-1383)GAC>GAA p.D461E UNC5C_uc010ilc.1_Missense_Mutation_p.D480E|UNC5C_uc003htq.2_Missense_Mutation_p.D480E NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 461 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TTGGGATTTTGTCTGAGACGT 0.512 NA 76 206 2.02726e-29 3.5834e-29 0.00361 1 0 NHEDC1 150159 broad.mit.edu 37 4 103911057 103911057 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:103911057T>A uc003hww.2 - 3 233 c.111A>T c.(109-111)AAA>AAT p.K37N NHEDC1_uc003hwu.2_Missense_Mutation_p.K37N|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 37 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) ATAAGACAGTTTTAGTTTCTT 0.299 NA 6 23 0 0 0.001984 0 0 ARSJ 79642 broad.mit.edu 37 4 114823441 114823441 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:114823441T>A uc003ibq.1 - 2 2677 c.1789A>T c.(1789-1791)ACT>TCT p.T597S ARSJ_uc010imu.1_Intron NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN arylsulfatase J precursor 597 STCHSGVTCG -> KPANLAR (in Ref. 2). extracellular region arylsulfatase activity|metal ion binding ovary(1) 1 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TATCCACAAGTAACACCTGAA 0.244 NA 9 92 0 0 0.004482 0 0 SEC24D 9871 broad.mit.edu 37 4 119686060 119686060 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:119686060T>C uc003ici.3 - 10 1465 c.1193A>G c.(1192-1194)TAT>TGT p.Y398C SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.Y399C|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 398 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 zinc ion binding 0 ATGTTGGAAATAGAATGGTGG 0.318 NA 20 104 0 0 0.007413 0 0 TRPC3 7222 broad.mit.edu 37 4 122853835 122853835 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:122853835G>A uc003ieg.2 - 2 652 c.578C>T c.(577-579)GCC>GTC p.A193V TRPC3_uc010inr.2_Missense_Mutation_p.A120V|TRPC3_uc003ief.2_Missense_Mutation_p.A120V|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 108 Cytoplasmic (Potential).|ANK 3. axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 GTTGAGGATGGCCTCTACGAT 0.632 NA 23 11 0 0 0.012319 0 0 FAT4 79633 broad.mit.edu 37 4 126240058 126240058 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:126240058C>G uc003ifj.3 + 1 2492 c.2492C>G c.(2491-2493)ACT>AGT p.T831S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 831 Extracellular (Potential).|Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TATCTCATTACTACTGGGGAT 0.443 NA 5 171 0 0 0.000602 0 0 LARP1B 55132 broad.mit.edu 37 4 129012285 129012285 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:129012285G>T uc003iga.2 + 6 619 c.488G>T c.(487-489)AGA>ATA p.R163I LARP1B_uc003ifw.1_Missense_Mutation_p.R116I|LARP1B_uc003ifx.2_Missense_Mutation_p.R163I|LARP1B_uc003ify.2_Missense_Mutation_p.R163I|LARP1B_uc003ifz.1_Missense_Mutation_p.R163I NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 163 Arg-rich. RNA binding 0 GGACGAGGCAGAGGAAATCCT 0.398 NA 18 167 1.67942e-08 2.09371e-08 0.006122 1 0 GAB1 2549 broad.mit.edu 37 4 144359508 144359508 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:144359508A>G uc003ije.2 + 4 1309 c.950A>G c.(949-951)TAT>TGT p.Y317C GAB1_uc003ijd.2_Missense_Mutation_p.Y317C|GAB1_uc011chq.1_Missense_Mutation_p.Y214C NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 317 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) GGTAATACTTATCAGATTCCA 0.433 NA 16 113 0 0 0.003163 0 0 PRMT10 90826 broad.mit.edu 37 4 148589703 148589703 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:148589703T>C uc003ilc.2 - 6 1082 c.940A>G c.(940-942)AGA>GGA p.R314G PRMT10_uc003ild.2_Missense_Mutation_p.R201G NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 314 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TGATGTCTTCTTATCTCTGCA 0.219 NA 21 34 0 0 0.004656 0 0 KIAA0922 23240 broad.mit.edu 37 4 154548817 154548817 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:154548817C>T uc003inm.3 + 31 4234 c.4182C>T c.(4180-4182)CCC>CCT p.P1394P KIAA0922_uc010ipp.2_Silent_p.P1395P|KIAA0922_uc010ipq.2_Silent_p.P1163P NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1394 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CTGCCGGGCCCACAGGTGTTG 0.517 NA 5 18 0 0 0.00308 0 0 TMEM144 55314 broad.mit.edu 37 4 159174649 159174649 + Silent SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:159174649A>G uc003ipx.2 + 13 1528 c.1008A>G c.(1006-1008)GGA>GGG p.G336G TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 336 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) TCTTGACTGGAGCCTTATGCA 0.393 NA 23 82 0 0 0.004656 0 0 FSTL5 56884 broad.mit.edu 37 4 162380415 162380415 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:162380415C>A uc003iqh.2 - 14 2101 c.1665G>T c.(1663-1665)CAG>CAT p.Q555H FSTL5_uc003iqi.2_Missense_Mutation_p.Q554H|FSTL5_uc010iqv.2_Missense_Mutation_p.Q545H NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 555 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GCACCCAGACCTGATCATGTG 0.363 NA 44 24 1.17673e-23 1.96906e-23 0.00361 1 0 ANP32C 23520 broad.mit.edu 37 4 165118707 165118707 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:165118707C>A uc011cjk.1 - 1 157 c.157G>T c.(157-159)GGC>TGC p.G53C MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 53 LRR 1. 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) GAGGTGAGGCCTCCGTTGATT 0.443 NA 37 112 5.43694e-19 8.50957e-19 0.005524 1 0 ANXA10 11199 broad.mit.edu 37 4 169105768 169105768 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:169105768A>T uc003irm.2 + 11 987 c.842A>T c.(841-843)GAC>GTC p.D281V ANXA10_uc003irn.2_Missense_Mutation_p.D153V NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN annexin A10 281 Annexin 4. calcium ion binding|calcium-dependent phospholipid binding 0 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) AGTGAAATAGACCTGCTGACC 0.373 NA 59 74 0 0 0.00361 0 0 PALLD 23022 broad.mit.edu 37 4 169632955 169632955 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:169632955C>T uc011cjx.1 + 10 2056 c.1845C>T c.(1843-1845)CCC>CCT p.P615P PALLD_uc003iru.2_Silent_p.P615P|PALLD_uc003irv.2_Silent_p.P233P NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 615 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAGTCCATCCCAGCCGTGGAG 0.512 Esophageal Squamous(109;1482 1532 18347 40239 51172) NA Pancreatic_Cancer_Familial_Clustering_of 15 39 0 0 0.00245 0 0 FRG1 2483 broad.mit.edu 37 4 190878613 190878613 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:190878613A>G uc003izs.2 + 6 684 c.493A>G c.(493-495)ATA>GTA p.I165V NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 165 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGCAGGGGACATAGAAGCAAA 0.378 NA 3 43 0 0 0.001168 0 0 FBXL7 23194 broad.mit.edu 37 5 15928457 15928457 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:15928457T>A uc003jfn.1 + 3 1067 c.586T>A c.(586-588)TGC>AGC p.C196S NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 196 LRR 2. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TGTCAGTGGCTGCAGGCGGCT 0.607 NA 8 19 0 0 0.00308 0 0 CDH9 1007 broad.mit.edu 37 5 26881466 26881466 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:26881466G>A uc003jgs.1 - 12 2318 c.2149C>T c.(2149-2151)CAT>TAT p.H717Y CDH9_uc011cnv.1_Missense_Mutation_p.H310Y NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 717 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AATCTTCGATGGATAAAATCT 0.413 Melanoma(8;187 585 15745 40864 52829) NA 36 61 0 0 0.005524 0 0 SLC45A2 51151 broad.mit.edu 37 5 33947361 33947361 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:33947361C>A uc003jid.2 - 6 1367 c.1275G>T c.(1273-1275)CTG>CTT p.L425L SLC45A2_uc003jie.2_Silent_p.L425L NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 425 Extracellular (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TGCACAGGACCAGGGTGGAGT 0.498 Ovarian(31;380 859 8490 22203 49048) NA 71 109 7.59065e-32 1.35766e-31 0.00361 1 0 UGT3A2 167127 broad.mit.edu 37 5 36038112 36038112 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:36038112G>T uc003jjz.1 - 6 1175 c.1082C>A c.(1081-1083)CCA>CAA p.P361Q UGT3A2_uc011cos.1_Missense_Mutation_p.P327Q|UGT3A2_uc011cot.1_Missense_Mutation_p.P59Q NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 361 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACGGATGCTTGGGTGAGCTGT 0.507 NA 11 49 0.00010058 0.000112536 0.001368 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41019043 41019043 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:41019043G>T uc003jmj.3 - 25 3009 c.2519C>A c.(2518-2520)CCA>CAA p.P840Q HEATR7B2_uc003jmi.3_Missense_Mutation_p.P395Q NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 840 binding ovary(6)|central_nervous_system(2) 8 TTCCAGAGGTGGAAGGGGCAG 0.478 NA 11 30 7.03913e-09 8.8341e-09 0.001368 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65346652 65346652 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:65346652C>T uc003juk.1 + 20 2253 c.1945C>T c.(1945-1947)CAC>TAC p.H649Y ERBB2IP_uc003jui.1_Missense_Mutation_p.H649Y|ERBB2IP_uc003juj.1_Missense_Mutation_p.H649Y|ERBB2IP_uc011cqx.1_Missense_Mutation_p.H649Y|ERBB2IP_uc011cqy.1_Missense_Mutation_p.H649Y|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.H645Y|ERBB2IP_uc003jul.1_Missense_Mutation_p.H645Y NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 649 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TGAAGTTACACACAATAGCAA 0.333 NA 13 54 0 0 0.003163 0 0 FAM169A 26049 broad.mit.edu 37 5 74130289 74130289 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:74130289T>G uc003kdm.2 - 5 495 c.452A>C c.(451-453)AAA>ACA p.K151T FAM169A_uc010izm.2_Missense_Mutation_p.K151T|FAM169A_uc003kdl.2_Intron NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 151 0 GGCCTCTCCTTTCTTCCACAG 0.358 NA 21 59 0 0 0.00333 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834447 101834447 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:101834447C>A uc003knn.2 - 1 274 c.102G>T c.(100-102)AGG>AGT p.R34S SLCO6A1_uc003kno.2_Missense_Mutation_p.R34S|SLCO6A1_uc003knp.2_Missense_Mutation_p.R34S|SLCO6A1_uc003knq.2_Missense_Mutation_p.R34S NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 34 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTCCCTTGGCCCTCCTGTCCT 0.607 NA 53 181 3.28156e-27 5.68049e-27 0.00361 1 0 NUDT12 83594 broad.mit.edu 37 5 102895744 102895744 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:102895744C>A uc003koi.2 - 2 299 c.206G>T c.(205-207)GGG>GTG p.G69V NUDT12_uc011cvb.1_Intron|NUDT12_uc010jbq.1_Missense_Mutation_p.G69V NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 69 ANK 2. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) AAATGTTTACCCTTTCTCAAG 0.363 NA 33 50 4.39465e-27 7.58984e-27 0.002836 1 0 FBN2 2201 broad.mit.edu 37 5 127666358 127666358 + Nonsense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:127666358G>A uc003kuu.2 - 33 4691 c.4252C>T c.(4252-4254)CAG>TAG p.Q1418* FBN2_uc003kuv.2_Nonsense_Mutation_p.Q1385* NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1418 EGF-like 23; 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) ATGCTACACTGGTGGGTTCCA 0.463 NA 23 28 0 0 0.005443 0 0 FBN2 2201 broad.mit.edu 37 5 127681204 127681204 + Missense_Mutation SNP C C A rs139620380 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:127681204C>A uc003kuu.2 - 24 3501 c.3062G>T c.(3061-3063)CGC>CTC p.R1021L FBN2_uc003kuv.2_Missense_Mutation_p.R988L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1021 TB 5. 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) GGCATCCATGCGGAACTTTCC 0.572 NA 23 49 3.08376e-08 3.80045e-08 0.00333 1 0 ISOC1 51015 broad.mit.edu 37 5 128440707 128440707 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:128440707A>T uc003kva.2 + 2 386 c.368A>T c.(367-369)CAG>CTG p.Q123L NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 123 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) TGTGATATGCAGGAAAGGTTC 0.388 NA 20 67 0 0 0.010504 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752309 140752309 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:140752309A>C uc003ljw.1 + 1 2348 c.2348A>C c.(2347-2349)GAT>GCT p.D783A 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.D783A|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 783 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCTATGTGATGAAGCCTCT 0.378 NA 14 15 0 0 0.00245 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762984 140762984 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:140762984G>T uc003lka.1 + 1 518 c.518G>T c.(517-519)AGC>ATC p.S173I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.S173I NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 173 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACCAGCTCAGCCCCAATCGC 0.567 NA 8 26 0.00621372 0.00657153 0.006214 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140798154 140798154 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:140798154G>T uc003lkn.1 + 1 873 c.728G>T c.(727-729)AGC>ATC p.S243I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.S243I|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 243 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGTGTTCAGCCAGGACGTG 0.567 NA 33 62 4.3181e-19 6.80236e-19 0.002836 1 0 PDGFRB 5159 broad.mit.edu 37 5 149515331 149515331 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:149515331C>A uc003lro.2 - 3 620 c.151G>T c.(151-153)GTT>TTT p.V51F PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.V51F NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 51 Extracellular (Potential).|Ig-like C2-type 1. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CAGGTCAGAACGAAGGTGCTG 0.607 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 6 25 0.00116845 0.00125871 0.001168 1 0 GLRA1 2741 broad.mit.edu 37 5 151231087 151231087 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:151231087C>A uc003lut.2 - 7 1063 c.776G>T c.(775-777)AGC>ATC p.S259I GLRA1_uc003lur.2_Missense_Mutation_p.S259I|GLRA1_uc003lus.2_Missense_Mutation_p.S176I NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 259 Helical; (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AATGAGCAGGCTGGGAATATA 0.517 NA 25 57 3.65163e-15 5.27769e-15 0.00632 1 0 KIF4B 285643 broad.mit.edu 37 5 154395645 154395645 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:154395645A>T uc010jih.1 + 1 2386 c.2226A>T c.(2224-2226)CGA>CGT p.R742R NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 742 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGCAGCTCGAGTGAGGAATT 0.483 NA 10 31 0 0 0.008291 0 0 FAM71B 153745 broad.mit.edu 37 5 156589909 156589909 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:156589909C>A uc003lwn.2 - 2 1467 c.1367G>T c.(1366-1368)AGA>ATA p.R456I NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 456 Bipartite nuclear localization signal (Potential). nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCCCCCGCTCTCCTGCGGTG 0.478 NA 30 132 5.45727e-16 8.08922e-16 0.008361 1 0 ATP10B 23120 broad.mit.edu 37 5 160047932 160047932 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:160047932G>T uc003lym.1 - 15 2685 c.1838C>A c.(1837-1839)GCT>GAT p.A613D ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.A171D NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 613 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTCCCCAGAGCCTTGCTTGA 0.468 NA 52 214 3.74213e-36 6.83937e-36 0.00361 1 0 DOCK2 1794 broad.mit.edu 37 5 169267762 169267762 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:169267762C>A uc003maf.2 + 27 2785 c.2705C>A c.(2704-2706)GCC>GAC p.A902D DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A394D NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 902 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTTTTACAGGCCTTCACCTAC 0.463 NA 9 23 4.68919e-08 5.7414e-08 0.008291 1 0 DOCK2 1794 broad.mit.edu 37 5 169469016 169469016 + Splice_Site SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:169469016G>A uc003maf.2 + 38 3837 c.3757_splice c.e38-1 p.W1253_splice DOCK2_uc011der.1_Splice_Site|DOCK2_uc010jjm.2_Splice_Site_p.W745_splice NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTCTTCACAGTGGTCGGATG 0.572 NA 13 24 0 0 0.00245 0 0 DOCK2 1794 broad.mit.edu 37 5 169474591 169474591 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:169474591C>A uc003maf.2 + 40 4124 c.4044C>A c.(4042-4044)TAC>TAA p.Y1348* DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Nonsense_Mutation_p.Y840* NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1348 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGGATACTACGGCCAGGGAT 0.522 NA 24 39 5.35356e-11 7.19862e-11 0.00278 1 0 GABRP 2568 broad.mit.edu 37 5 170216248 170216248 + Missense_Mutation SNP G G T rs146765294 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:170216248G>T uc003mau.2 + 3 367 c.169G>T c.(169-171)GGT>TGT p.G57C GABRP_uc011dev.1_Missense_Mutation_p.G57C NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 57 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) GCCCAATTTTGGTGGTAGGTC 0.473 NA 13 12 1.61879e-10 2.14227e-10 0.001368 1 0 DRD1 1812 broad.mit.edu 37 5 174869090 174869090 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:174869090C>T uc003mcz.2 - 2 1958 c.1013G>A c.(1012-1014)CGG>CAG p.R338Q NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 338 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AAATGCCTTCCGAAAATCAGC 0.453 NA 22 37 0 0 0.002299 0 0 ZNF454 285676 broad.mit.edu 37 5 178391974 178391974 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:178391974G>T uc003mjo.1 + 5 840 c.569G>T c.(568-570)AGT>ATT p.S190I ZNF454_uc010jkz.1_Missense_Mutation_p.S190I NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 190 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TTCTCTAAGAGTTCAACTCTT 0.333 NA 7 47 2.0095e-06 2.34597e-06 0.001984 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178555076 178555076 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:178555076T>A uc003mjw.2 - 17 2501 c.2501A>T c.(2500-2502)TAC>TTC p.Y834F NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 834 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATGGATCATGTATTTGTACGT 0.577 NA 30 33 0 0 0.003271 0 0 RIPK1 8737 broad.mit.edu 37 6 3105766 3105766 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:3105766C>G uc010jni.2 + 9 1289 c.1057C>G c.(1057-1059)CCT>GCT p.P353A RIPK1_uc003muv.3_Missense_Mutation_p.P190A|RIPK1_uc003muw.3_Missense_Mutation_p.P288A|RIPK1_uc011dhs.1_Missense_Mutation_p.P307A|RIPK1_uc003mux.2_Missense_Mutation_p.P353A NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 353 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGGGATGGGTCCTGTGGAGGA 0.498 NA 6 299 0 0 0.001168 0 0 OR2W1 26692 broad.mit.edu 37 6 29012657 29012657 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:29012657A>G uc003nlw.2 - 1 296 c.296T>C c.(295-297)ATC>ACC p.I99T NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATAGAGTTGGATGATACAACC 0.433 NA 38 16 0 0 0.006999 0 0 OR2B3 442184 broad.mit.edu 37 6 29054921 29054921 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:29054921G>A uc003nlx.2 - 1 170 c.105C>T c.(103-105)TAC>TAT p.Y35Y NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 TGGTGATTGTGTATGATATTA 0.408 NA 58 21 0 0 0.00361 0 0 TNXB 7148 broad.mit.edu 37 6 32011608 32011608 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:32011608G>A uc003nzl.2 - 35 11644 c.11442C>T c.(11440-11442)ATC>ATT p.I3814I TNXB_uc003nzg.1_Silent_p.I245I|TNXB_uc003nzh.1_Silent_p.I283I NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3861 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GAGCGCCTGGGATCAGCCCCT 0.627 NA 8 139 0 0 0.00308 0 0 TNXB 7148 broad.mit.edu 37 6 32024666 32024666 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:32024666T>A uc003nzl.2 - 23 8042 c.7840A>T c.(7840-7842)ACC>TCC p.T2614S NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2674 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GCTTGGGTGGTCTCGGCTTCA 0.582 NA 65 18 0 0 0.00361 0 0 TAP2 6891 broad.mit.edu 37 6 32797760 32797760 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:32797760T>A uc003occ.2 - 9 1773 c.1742A>T c.(1741-1743)CAG>CTG p.Q581L TAP2_uc011dqf.1_Missense_Mutation_p.Q581L|TAP2_uc003ocb.1_Missense_Mutation_p.Q581L|TAP2_uc003ocd.2_Missense_Mutation_p.Q581L NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 581 ABC transporter.|Cytoplasmic (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GTGGGCAGCCTGGGCAGCCGC 0.488 NA 133 47 0 0 0.00361 0 0 COL19A1 1310 broad.mit.edu 37 6 70647991 70647991 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:70647991C>A uc003pfc.1 + 9 1052 c.935C>A c.(934-936)CCG>CAG p.P312Q COL19A1_uc010kam.1_Missense_Mutation_p.P208Q NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 312 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 AAAGGAGAGCCGGTAAGAAAA 0.373 NA 14 11 0.000219431 0.000243346 0.00245 1 0 RIPPLY2 134701 broad.mit.edu 37 6 84563492 84563492 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:84563492G>T uc003pke.2 + 2 325 c.174G>T c.(172-174)GCG>GCT p.A58A NM_001009994 NP_001009994 Q5TAB7 RIPP2_HUMAN ripply2 protein 58 somite rostral/caudal axis specification nucleus 0 CCGCGGAGGCGGTGAGTGAGC 0.667 NA 7 7 3.09899e-07 3.72175e-07 0.004482 1 0 TBX18 9096 broad.mit.edu 37 6 85446500 85446500 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:85446500T>A uc003pkl.1 - 8 1727 c.1727A>T c.(1726-1728)CAC>CTC p.H576L TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 576 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GCTAAGCAGGTGCACTCCTTC 0.502 NA 39 14 0 0 0.004878 0 0 MDN1 23195 broad.mit.edu 37 6 90468063 90468063 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:90468063C>A uc003pnn.1 - 19 2729 c.2613G>T c.(2611-2613)CTG>CTT p.L871L MDN1_uc003pno.1_Silent_p.L290L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 871 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GATGCCGAACCAGTGGCTCTG 0.453 NA 12 1 6.40141e-05 7.24851e-05 0.010729 1 0 GRIK2 2898 broad.mit.edu 37 6 102074407 102074407 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:102074407T>A uc003pqp.3 + 3 685 c.436T>A c.(436-438)TAT>AAT p.Y146N GRIK2_uc003pqn.2_Missense_Mutation_p.Y146N|GRIK2_uc003pqo.3_Missense_Mutation_p.Y146N|GRIK2_uc010kcw.2_Missense_Mutation_p.Y146N NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 146 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGATTCCTTCTATGTCAGTCT 0.498 NA 25 35 0 0 0.003954 0 0 LAMA2 3908 broad.mit.edu 37 6 129835715 129835715 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:129835715C>A uc003qbn.2 + 63 9291 c.9186C>A c.(9184-9186)GAC>GAA p.D3062E LAMA2_uc003qbo.2_Missense_Mutation_p.D3058E|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 3062 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACACAAATGACCCTGTGTTTG 0.463 NA 11 37 1.08611e-07 1.32123e-07 0.010729 1 0 TMEM200A 114801 broad.mit.edu 37 6 130761637 130761637 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:130761637C>A uc003qca.2 + 3 941 c.70C>A c.(70-72)CAG>AAG p.Q24K TMEM200A_uc010kfh.2_Missense_Mutation_p.Q24K|TMEM200A_uc010kfi.2_Missense_Mutation_p.Q24K|TMEM200A_uc003qcb.2_Missense_Mutation_p.Q24K NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 24 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CAGATCACAGCAGCATGTCAA 0.537 NA 29 109 7.38237e-10 9.55141e-10 0.00632 1 0 SLC35D3 340146 broad.mit.edu 37 6 137245704 137245704 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:137245704C>T uc003qhe.2 + 2 1286 c.1121C>T c.(1120-1122)GCT>GTT p.A374V NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 374 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CCGCTGGTGGCTGGGAGCTCT 0.587 NA 13 28 0 0 0.001855 0 0 GPR126 57211 broad.mit.edu 37 6 142725021 142725021 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:142725021G>C uc010khc.2 + 14 2449 c.2038G>C c.(2038-2040)GCT>CCT p.A680P GPR126_uc010khd.2_Missense_Mutation_p.A652P|GPR126_uc010khe.2_Missense_Mutation_p.A680P|GPR126_uc010khf.2_Missense_Mutation_p.A652P NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 680 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TCGGAACTTGGCTCTCAGCGT 0.368 NA 30 52 0 0 0.010818 0 0 SHPRH 257218 broad.mit.edu 37 6 146262953 146262953 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:146262953C>G uc003qlf.2 - 10 2695 c.2296G>C c.(2296-2298)GAT>CAT p.D766H SHPRH_uc003qld.2_Missense_Mutation_p.D766H|SHPRH_uc003qle.2_Missense_Mutation_p.D766H|SHPRH_uc003qlg.1_Missense_Mutation_p.D322H|SHPRH_uc003qlj.1_Missense_Mutation_p.D655H NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 766 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ATAACTATATCCTGTTCTGCC 0.388 NA 9 42 0 0 0.004482 0 0 IYD 389434 broad.mit.edu 37 6 150690185 150690185 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:150690185C>T uc003qnu.1 + 1 158 c.18C>T c.(16-18)CCC>CCT p.P6P IYD_uc003qnv.1_Silent_p.P6P|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Silent_p.P6P|IYD_uc010kik.1_5'UTR NM_203395 NP_981932 Q6PHW0 IYD1_HUMAN iodotyrosine dehalogenase 1 isoform 2 6 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane ovary(2) 2 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TCCTGACTCCCATCTTGGTAG 0.502 NA 111 167 0 0 0.00361 0 0 PARK2 5071 broad.mit.edu 37 6 161771171 161771171 + Missense_Mutation SNP C C A rs137853056 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:161771171C>A uc003qtx.3 - 12 1492 c.1358G>T c.(1357-1359)TGG>TTG p.W453L PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.W262L|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Missense_Mutation_p.W425L|PARK2_uc003qtz.3_Missense_Mutation_p.W304L|PARK2_uc011egf.1_Missense_Mutation_p.W127L NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 453 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GACGCGGTTCCACTCGCAGCC 0.637 NA 3 16 0.004672 0.00494798 0.004672 1 0 C6orf118 168090 broad.mit.edu 37 6 165715541 165715541 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:165715541G>T uc003qum.3 - 2 306 c.270C>A c.(268-270)CGC>CGA p.R90R C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 90 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCTCAGAGGCGCGCTCCCCCT 0.657 NA 37 54 2.75727e-19 4.35268e-19 0.004878 1 0 T 6862 broad.mit.edu 37 6 166574359 166574359 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:166574359C>A uc003quu.1 - 8 1493 c.1000G>T c.(1000-1002)GTG>TTG p.V334L T_uc003qut.1_Missense_Mutation_p.V335L|T_uc003quv.1_Missense_Mutation_p.V276L NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 334 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TTGTGGCTCACGGGGAGCATG 0.542 NA Chordoma_Familial_Clustering_of 46 59 1.61004e-24 2.71221e-24 0.00361 1 0 THSD7A 221981 broad.mit.edu 37 7 11676130 11676130 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:11676130G>T uc003ssf.3 - 2 901 c.649C>A c.(649-651)CGG>AGG p.R217R NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 217 Extracellular (Potential).|TSP type-1 2. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGACGCGTCCGGTGCTGGAGC 0.617 NA HNSCC(18;0.044) 7 31 0.00198382 0.00211889 0.001984 1 0 ITGB8 3696 broad.mit.edu 37 7 20441685 20441685 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:20441685G>T uc003suu.2 + 10 2328 c.1623G>T c.(1621-1623)GTG>GTT p.V541V ITGB8_uc011jyh.1_Silent_p.V406V NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 541 Cysteine-rich tandem repeats.|II.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 TTGGAAAAGTGTATGGAAAAT 0.398 NA 50 159 3.19069e-20 5.13373e-20 0.00361 1 0 DNAH11 8701 broad.mit.edu 37 7 21788210 21788210 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:21788210C>T uc003svc.2 + 53 8575 c.8544C>T c.(8542-8544)AGC>AGT p.S2848S NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2848 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GTCGCATCAGCCGGATCTTAC 0.498 NA Kartagener_syndrome 7 40 0 0 0.004482 0 0 DDC 1644 broad.mit.edu 37 7 50607692 50607692 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:50607692T>A uc003tpf.3 - 3 322 c.236A>T c.(235-237)TAC>TTC p.Y79F DDC_uc010kza.2_Missense_Mutation_p.Y79F|DDC_uc003tpg.3_Missense_Mutation_p.Y79F NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 79 1.|2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) AGTGGGGAAGTAGGCGAAGAA 0.642 NA 41 19 0 0 0.013114 0 0 VOPP1 81552 broad.mit.edu 37 7 55565340 55565340 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:55565340G>A uc003tqs.2 - 3 340 c.157C>T c.(157-159)CGG>TGG p.R53W VOPP1_uc003tqq.2_Missense_Mutation_p.R44W|VOPP1_uc010kzh.2_Missense_Mutation_p.R50W|VOPP1_uc010kzi.2_Missense_Mutation_p.R36W|VOPP1_uc011kcr.1_5'UTR NM_030796 NP_110423 Q96AW1 VOPP1_HUMAN EGFR-coamplified and overexpressed protein 53 Extracellular (Potential). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity 0 GAGAGGGCCCGCACACAGCAC 0.627 NA 4 174 0 0 0.000602 0 0 ZNF107 51427 broad.mit.edu 37 7 64166746 64166746 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:64166746A>G uc003ttd.2 + 7 850 c.64A>G c.(64-66)ATA>GTA p.I22V ZNF107_uc003tte.2_Missense_Mutation_p.I22V NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGAGCAGAACATAAAAGATTC 0.338 NA 24 58 0 0 0.009535 0 0 TYW1B 441250 broad.mit.edu 37 7 72281203 72281203 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:72281203C>A uc011kej.1 - 4 445 c.286G>T c.(286-288)GGC>TGC p.G96C TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_Intron NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 96 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 GTTGGTAGGCCGTCAGTGTAT 0.418 NA 23 98 4.26978e-12 5.84571e-12 0.00333 1 0 PCLO 27445 broad.mit.edu 37 7 82579765 82579765 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:82579765C>A uc003uhx.2 - 6 10428 c.10139G>T c.(10138-10140)GGT>GTT p.G3380V PCLO_uc003uhv.2_Missense_Mutation_p.G3380V|PCLO_uc010lec.2_Missense_Mutation_p.G345V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3311 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTGAGTAACACCATCAGACTG 0.438 NA 16 35 8.60227e-14 1.21987e-13 0.004007 1 0 PCLO 27445 broad.mit.edu 37 7 82582433 82582433 + Silent SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:82582433A>G uc003uhx.2 - 5 8125 c.7836T>C c.(7834-7836)GAT>GAC p.D2612D PCLO_uc003uhv.2_Silent_p.D2612D|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2543 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAGAAACCAGATCTTTGGAGG 0.433 NA 74 96 0 0 0.00361 0 0 SEMA3D 223117 broad.mit.edu 37 7 84751060 84751060 + Nonsense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:84751060T>A uc003uic.2 - 1 188 c.148A>T c.(148-150)AAA>TAA p.K50* SEMA3D_uc010led.2_Nonsense_Mutation_p.K50*|SEMA3D_uc010lee.1_Nonsense_Mutation_p.K50* NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 50 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TATTTACCTTTGTAGGTTAGC 0.299 Ovarian(63;442 1191 17318 29975 31528) NA 10 31 0 0 0.008291 0 0 ABCB1 5243 broad.mit.edu 37 7 87135292 87135292 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:87135292A>G uc003uiz.1 - 28 3975 c.3557T>C c.(3556-3558)ATA>ACA p.I1186T ABCB1_uc011khc.1_Missense_Mutation_p.I1122T NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 1186 Cytoplasmic (Potential).|ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGCACGAGCTATGGCAATGCG 0.403 NA 41 84 0 0 0.009718 0 0 DBF4 10926 broad.mit.edu 37 7 87536810 87536811 + Missense_Mutation DNP CT CT GA TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:87536810_87536811CT>GA uc003ujf.1 + 12 1861_1862 c.1357_1358CT>GA c.(1357-1359)CTA>GAA p.L453E DBF4_uc003ujh.1_Missense_Mutation_p.L193E|DBF4_uc003ujg.1_Missense_Mutation_p.L229E|DBF4_uc011khf.1_Missense_Mutation_p.L220E NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 453 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) ACAGCTACCTCTACATAAAAAC 0.322 NA 17 27 0 0 0.004672 0 0 C7orf63 79846 broad.mit.edu 37 7 89900854 89900854 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:89900854A>T uc010lep.2 + 7 798 c.547A>T c.(547-549)AGT>TGT p.S183C C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.S165C|C7orf63_uc010leo.2_Missense_Mutation_p.S181C NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 183 binding ovary(1) 1 CCAGCAAGCGAGTTCATCATA 0.323 NA 25 53 0 0 0.005443 0 0 COL1A2 1278 broad.mit.edu 37 7 94054961 94054961 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:94054961C>T uc003ung.1 + 43 3292 c.2821C>T c.(2821-2823)CAA>TAA p.Q941* COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 941 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) TCGCGATGGTCAACCCGGACA 0.483 NA HNSCC(75;0.22) 21 38 0 0 0.00278 0 0 PON3 5446 broad.mit.edu 37 7 94991730 94991730 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:94991730G>A uc003unt.2 - 8 875 c.850C>T c.(850-852)CAT>TAT p.H284Y PON1_uc011kih.1_Intron NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 284 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) GGATTAGGATGGCATCCTGCC 0.478 NA 10 24 0 0 0.001855 0 0 SHFM1 7979 broad.mit.edu 37 7 96318269 96318269 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:96318269T>C uc003uoi.2 - 3 308 c.180A>G c.(178-180)CTA>CTG p.L60L SHFM1_uc010lfn.1_Intron NM_006304 NP_006295 P60896 DSS1_HUMAN split hand/foot malformation type 1 60 proteolysis proteasome complex peptidase activity|protein binding 0 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) CATGTTTCTCTAGTTCAGCTC 0.318 NA Direct_reversal_of_damage|Homologous_recombination 14 47 0 0 0.004007 0 0 PILRB 29990 broad.mit.edu 37 7 99956677 99956677 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:99956677G>T uc003uuk.2 + 16 2925 c.429G>T c.(427-429)AAG>AAT p.K143N PILRB_uc003uul.2_Missense_Mutation_p.G74W|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Missense_Mutation_p.K143N NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 143 Extracellular (Potential).|Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGTCCATCAAGGGGACCAAAC 0.567 NA 20 29 1.33834e-09 1.71974e-09 0.007413 1 0 MUC17 140453 broad.mit.edu 37 7 100685329 100685329 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:100685329C>A uc003uxp.1 + 3 10685 c.10632C>A c.(10630-10632)TCC>TCA p.S3544S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3544 Extracellular (Potential).|Ser-rich.|57.|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) CTGTTGACTCCAACACTTTTG 0.483 NA 108 253 6.25226e-48 1.1829e-47 0.00361 1 0 CUX1 1523 broad.mit.edu 37 7 101916724 101916724 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:101916724A>T uc003uyt.2 + 15 1362 c.1343A>T c.(1342-1344)GAC>GTC p.D448V CUX1_uc011kkn.1_Missense_Mutation_p.D409V|CUX1_uc003uyw.2_Missense_Mutation_p.D402V|CUX1_uc003uyv.2_Missense_Mutation_p.D432V|CUX1_uc003uyu.2_Missense_Mutation_p.D446V|CUX1_uc003uyz.2_5'Flank NM_001913 NP_001904 P39880 CUX1_HUMAN cut-like homeobox 1 isoform b 305 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CTGGAGCAGGACCTGAGCATC 0.632 NA 12 9 0 0 0.010729 0 0 RELN 5649 broad.mit.edu 37 7 103151432 103151433 + Missense_Mutation DNP GG GG CT TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:103151432_103151433GG>CT uc003vca.2 - 51 8299_8300 c.8139_8140CC>AG c.(8137-8142)TTCCAT>TTAGAT p.2713_2714FH>LD RELN_uc010liz.2_Missense_Mutation_p.2713_2714FH>LD NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2713_2714 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAATCATCATGGAATAGCCAGT 0.386 NSCLC(146;835 1944 15585 22231 52158) NA 11 37 0 0 0.004672 0 0 CDHR3 222256 broad.mit.edu 37 7 105672970 105672970 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:105672970G>A uc003vdl.3 + 19 2593 c.2485G>A c.(2485-2487)GGG>AGG p.G829R CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Missense_Mutation_p.G816R|CDHR3_uc011klt.1_Missense_Mutation_p.G741R|CDHR3_uc003vdn.2_3'UTR NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 829 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TGCTGGGGAAGGGATGGGGTC 0.552 NA 18 26 0 0 0.007413 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508039 106508039 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:106508039G>C uc003vdv.3 + 2 118 c.33G>C c.(31-33)GTG>GTC p.V11V PIK3CG_uc003vdu.2_Silent_p.V11V|PIK3CG_uc003vdw.2_Silent_p.V11V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 11 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AGCCCGTGGTGCTGAGAGAGG 0.587 NA 25 46 0 0 0.005443 0 0 LAMB4 22798 broad.mit.edu 37 7 107674697 107674697 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:107674697G>T uc010ljo.1 - 31 4858 c.4774C>A c.(4774-4776)CAG>AAG p.Q1592K LAMB4_uc003vey.2_Missense_Mutation_p.Q1592K|LAMB4_uc010ljp.1_Missense_Mutation_p.Q561K NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1592 Potential.|Domain I. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GCAGTCAGCTGTGTAATGGTA 0.353 NA 53 105 6.9144e-35 1.26066e-34 0.00361 1 0 LRRN3 54674 broad.mit.edu 37 7 110763692 110763692 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:110763692G>A uc003vft.3 + 4 1910 c.864G>A c.(862-864)GAG>GAA p.E288E IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.E288E|LRRN3_uc003vfs.3_Silent_p.E288E NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 288 Extracellular (Potential).|LRR 10. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACTTAAAAGAGTTGGGGATAA 0.328 NA 14 78 0 0 0.004007 0 0 WNT16 51384 broad.mit.edu 37 7 120969762 120969762 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:120969762G>T uc003vjw.2 + 2 494 c.237G>T c.(235-237)CAG>CAT p.Q79H WNT16_uc003vjv.2_Missense_Mutation_p.Q69H|WNT16_uc010lkl.2_Translation_Start_Site NM_057168 NP_476509 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, 79 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity lung(2)|ovary(2)|large_intestine(1) 5 all_neural(327;0.117) TGGGCATTCAGGAGTGCGGGA 0.652 NA 24 31 9.80776e-20 1.55807e-19 0.00632 1 0 TSPAN33 340348 broad.mit.edu 37 7 128801519 128801519 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:128801519G>T uc003vop.1 + 2 332 c.103_splice c.e2-1 p.V35_splice NM_178562 NP_848657 Q86UF1 TSN33_HUMAN tetraspanin 33 integral to membrane ovary(1) 1 TGTCTCCACAGGTGATTTCCA 0.552 NA 48 105 3.77171e-38 6.99532e-38 0.00361 1 0 DGKI 9162 broad.mit.edu 37 7 137341270 137341270 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:137341270C>A uc003vtt.2 - 4 624 c.623G>T c.(622-624)AGG>ATG p.R208M DGKI_uc003vtu.2_Translation_Start_Site NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 208 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 TGCACACTTCCTCCTGAGAGC 0.418 NA OREG0018350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 121 2.88734e-31 5.13987e-31 0.00361 1 0 C7orf34 135927 broad.mit.edu 37 7 142637544 142637544 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:142637544C>A uc003wca.2 + 2 355 c.314C>A c.(313-315)ACG>AAG p.T105K NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 80 extracellular region 0 Melanoma(164;0.059) TCGTCCAAGACGGCAGCTGTT 0.532 NA 43 80 5.44703e-19 8.50957e-19 0.009718 1 0 SSPO 23145 broad.mit.edu 37 7 149484826 149484826 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:149484826C>G uc010lpk.2 + 25 3648 c.3648C>G c.(3646-3648)TGC>TGG p.C1216W NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1216 VWFD 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCACATTATGCCACGCGGAGG 0.667 NA 2 3 0 0 0.004672 0 0 ZNF862 643641 broad.mit.edu 37 7 149561358 149561358 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:149561358C>T uc010lpn.2 + 8 3687 c.3495C>T c.(3493-3495)GCC>GCT p.A1165A ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 1165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 GCCAGGAGGCCCCCGGGATGT 0.622 NA 5 10 0 0 0.001984 0 0 ZNF775 285971 broad.mit.edu 37 7 150094431 150094431 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:150094431A>C uc003whf.1 + 3 987 c.862A>C c.(862-864)AAG>CAG p.K288Q NM_173680 NP_775951 Q96BV0 ZN775_HUMAN zinc finger protein 775 288 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGAGTGTGGCAAGAGCTTCAC 0.478 NA 3 26 0 0 0.004672 0 0 TMEM176B 28959 broad.mit.edu 37 7 150488658 150488658 + Silent SNP C C A rs146845592 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:150488658C>A uc003wht.3 - 7 940 c.774G>T c.(772-774)TCG>TCT p.S258S TMEM176B_uc003whu.3_Silent_p.S258S|TMEM176B_uc003whv.3_Silent_p.S221S|TMEM176B_uc003whw.3_Silent_p.S258S NM_001101313 NP_001094783 Q3YBM2 T176B_HUMAN transmembrane protein 176B isoform a 258 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCTAGAGGGCGAAGGGGGCA 0.567 NA 21 30 7.41877e-09 9.29507e-09 0.012319 1 0 ABP1 26 broad.mit.edu 37 7 150553761 150553761 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:150553761C>G uc003why.1 + 3 4421 c.203C>G c.(202-204)ACC>AGC p.T68S ABP1_uc003whz.1_Missense_Mutation_p.T68S|ABP1_uc003wia.1_Missense_Mutation_p.T68S NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 68 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) GCCAAGAACACCGTGTTTCTC 0.557 Pancreas(195;1227 3054 24912 28503) NA 50 67 0 0 0.00361 0 0 PTPRN2 5799 broad.mit.edu 37 7 158109546 158109546 + Missense_Mutation SNP C C A rs145815332 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:158109546C>A uc003wno.2 - 3 363 c.242G>T c.(241-243)CGC>CTC p.R81L PTPRN2_uc003wnp.2_Missense_Mutation_p.R64L|PTPRN2_uc003wnq.2_Missense_Mutation_p.R81L|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Missense_Mutation_p.R104L NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 81 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CACGCGCAGGCGCTGCAGGGC 0.642 NA 15 18 1.5739e-10 2.09389e-10 0.004007 1 0 SGCZ 137868 broad.mit.edu 37 8 13965682 13965682 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:13965682G>T uc003wwq.2 - 6 1270 c.610C>A c.(610-612)CAA>AAA p.Q204K SGCZ_uc010lss.2_Missense_Mutation_p.Q157K NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 191 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGAGATCTTGGGATGGCTCT 0.438 NA 20 25 1.28384e-07 1.55673e-07 0.012319 1 0 CLU 1191 broad.mit.edu 37 8 27466505 27466505 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:27466505C>T uc003xfw.1 - 2 254 c.196G>A c.(196-198)GAG>AAG p.E66K CLU_uc010lux.1_Intron|CLU_uc003xfx.1_Missense_Mutation_p.E66K|CLU_uc003xfy.1_Missense_Mutation_p.E77K|CLU_uc003xfz.1_Missense_Mutation_p.E118K NM_203339 NP_976084 P10909 CLUS_HUMAN clusterin isoform 2 66 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding ovary(2) 2 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GTCTTGCGCTCTTCGTTTGTT 0.473 NA 6 151 0 0 0.001168 0 0 TEX15 56154 broad.mit.edu 37 8 30695124 30695124 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:30695124C>T uc003xil.2 - 3 7527 c.7527G>A c.(7525-7527)TCG>TCA p.S2509S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2509 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTGAGAGCACCGACGCATCAG 0.368 NA 26 84 0 0 0.004656 0 0 UNC5D 137970 broad.mit.edu 37 8 35608282 35608282 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:35608282C>A uc003xjr.1 + 13 2446 c.2118C>A c.(2116-2118)TAC>TAA p.Y706* UNC5D_uc003xjs.1_Nonsense_Mutation_p.Y701*|UNC5D_uc003xju.1_Nonsense_Mutation_p.Y282* NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 706 Cytoplasmic (Potential).|Interaction with DCC (By similarity). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCCTGGATTACAACTTGAGAG 0.448 NA 88 109 2.4313e-29 4.2775e-29 0.00361 1 0 RNF5P1 286140 broad.mit.edu 37 8 38458370 38458370 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:38458370C>T uc003xly.2 - 1 406 c.349G>A c.(349-351)GGG>AGG p.G117R NR_003129 SubName: Full=Putative uncharacterized protein RNF5; 0 TGGAAGCCCCCGGTATCACCA 0.572 NA 82 90 0 0 0.00361 0 0 SNTG1 54212 broad.mit.edu 37 8 51664619 51664619 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:51664619G>C uc010lxy.1 + 19 1714 c.1343G>C c.(1342-1344)AGC>ACC p.S448T SNTG1_uc003xqs.1_Missense_Mutation_p.S448T|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 448 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GATGGCAAGAGCAAAATCAAA 0.358 NA 17 157 0 0 0.010504 0 0 ASPH 444 broad.mit.edu 37 8 62550537 62550537 + Silent SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:62550537A>G uc003xuj.2 - 12 1127 c.858T>C c.(856-858)AAT>AAC p.N286N ASPH_uc011leg.1_Silent_p.N257N|ASPH_uc003xuo.2_Silent_p.N267N|ASPH_uc011leh.1_Silent_p.N252N|ASPH_uc003xul.2_Silent_p.N272N|ASPH_uc011lei.1_Silent_p.N271N|ASPH_uc011lej.1_Silent_p.N229N|ASPH_uc003xun.2_Silent_p.N243N|ASPH_uc011lek.1_Silent_p.N267N|ASPH_uc003xum.2_Silent_p.N286N NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 286 Glu-rich.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTTCTACAGGATTATCCTCAG 0.323 NA 8 86 0 0 0.004482 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68131718 68131718 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:68131718C>A uc003xxo.1 - 30 4676 c.4286G>T c.(4285-4287)AGA>ATA p.R1429I ARFGEF1_uc003xxl.1_Missense_Mutation_p.R883I|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R412I NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1429 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAAAACAATTCTAAATAAATC 0.318 NA 10 89 7.48243e-07 8.88686e-07 0.006214 1 0 JPH1 56704 broad.mit.edu 37 8 75227183 75227183 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:75227183T>A uc003yae.2 - 2 1092 c.1052A>T c.(1051-1053)AAA>ATA p.K351I JPH1_uc003yaf.2_Missense_Mutation_p.K351I|JPH1_uc003yag.1_Missense_Mutation_p.K215I NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 351 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTCCCTAGTTTTTGTATGTCT 0.438 NA 45 201 0 0 0.00361 0 0 JPH1 56704 broad.mit.edu 37 8 75227185 75227185 + Silent SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:75227185T>G uc003yae.2 - 2 1090 c.1050A>C c.(1048-1050)ACA>ACC p.T350T JPH1_uc003yaf.2_Silent_p.T350T|JPH1_uc003yag.1_Silent_p.T214T NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 350 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CCCTAGTTTTTGTATGTCTTA 0.443 NA 43 200 0 0 0.00361 0 0 JPH1 56704 broad.mit.edu 37 8 75227187 75227187 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:75227187T>A uc003yae.2 - 2 1088 c.1048A>T c.(1048-1050)ACA>TCA p.T350S JPH1_uc003yaf.2_Missense_Mutation_p.T350S|JPH1_uc003yag.1_Missense_Mutation_p.T214S NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 350 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTAGTTTTTGTATGTCTTATT 0.443 NA 52 201 0 0 0.00361 0 0 CNBD1 168975 broad.mit.edu 37 8 88218342 88218342 + Missense_Mutation SNP G G C rs114439288 by1000genomes TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:88218342G>C uc003ydy.2 + 5 601 c.553G>C c.(553-555)GAA>CAA p.E185Q NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 185 ovary(3) 3 TGTCTTTTCCGAAACCTGGTT 0.373 NA 47 30 0 0 0.00361 0 0 DPYS 1807 broad.mit.edu 37 8 105393434 105393434 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:105393434G>T uc003yly.3 - 9 1681 c.1552C>A c.(1552-1554)CAC>AAC p.H518N DPYS_uc010mcf.1_Missense_Mutation_p.H88N NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 518 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTCAGGGGTGGGCCTGTTTC 0.507 NA 85 108 9.37156e-40 1.74673e-39 0.00361 1 0 ZFPM2 23414 broad.mit.edu 37 8 106801085 106801085 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:106801085G>C uc003ymd.2 + 6 695 c.672G>C c.(670-672)CTG>CTC p.L224L ZFPM2_uc011lhs.1_5'UTR NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 224 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CACGCCTGCTGGACTCAATTC 0.498 NA 46 72 0 0 0.00361 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814109 106814109 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:106814109G>T uc003ymd.2 + 8 1822 c.1799G>T c.(1798-1800)GGC>GTC p.G600V ZFPM2_uc011lhs.1_Missense_Mutation_p.G331V NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 600 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCAACACTGGCCAAACCTCC 0.463 NA 190 170 7.07375e-107 1.39804e-106 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113293448 113293448 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:113293448A>C uc003ynu.2 - 59 9622 c.9463T>G c.(9463-9465)TGC>GGC p.C3155G CSMD3_uc003yns.2_Missense_Mutation_p.C2357G|CSMD3_uc003ynt.2_Missense_Mutation_p.C3115G|CSMD3_uc011lhx.1_Missense_Mutation_p.C2986G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3155 Extracellular (Potential).|Sushi 23. 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 TTGGCTGTGCACTGTCTAACT 0.363 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 138 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113293554 113293554 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:113293554G>A uc003ynu.2 - 59 9516 c.9357C>T c.(9355-9357)ACC>ACT p.T3119T CSMD3_uc003yns.2_Silent_p.T2321T|CSMD3_uc003ynt.2_Silent_p.T3079T|CSMD3_uc011lhx.1_Silent_p.T2950T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3119 Extracellular (Potential).|Sushi 23. 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 CATTGGCTGTGGTTCCTGGGT 0.368 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 90 0 0 0.004007 0 0 CSMD3 114788 broad.mit.edu 37 8 113694845 113694845 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:113694845G>T uc003ynu.2 - 16 2662 c.2503C>A c.(2503-2505)CCT>ACT p.P835T CSMD3_uc003yns.2_Missense_Mutation_p.P107T|CSMD3_uc003ynt.2_Missense_Mutation_p.P795T|CSMD3_uc011lhx.1_Missense_Mutation_p.P731T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 835 Sushi 4.|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 CCAGGATCAGGGCATTCATTA 0.348 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 91 65 3.17287e-45 5.9879e-45 0.00361 1 0 ENPP2 5168 broad.mit.edu 37 8 120602768 120602768 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:120602768G>T uc003yot.1 - 13 1270 c.1184C>A c.(1183-1185)TCC>TAC p.S395Y ENPP2_uc003yor.1_Missense_Mutation_p.S34Y|ENPP2_uc003yos.1_Missense_Mutation_p.S447Y|ENPP2_uc010mdd.1_Missense_Mutation_p.S395Y NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 395 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCTAAATTTGGATCGAATTCT 0.284 Melanoma(20;305 879 2501 4818 31020) NA 77 40 3.27973e-32 5.88008e-32 0.00361 1 0 BAI1 575 broad.mit.edu 37 8 143614706 143614706 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:143614706G>T uc003ywm.2 + 24 3632 c.3449G>T c.(3448-3450)TGG>TTG p.W1150L NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1150 Helical; Name=6; (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCGCTGACCTGGATGTCGGCT 0.697 NA 8 20 0.000274275 0.000302385 0.004482 1 0 KIAA2026 158358 broad.mit.edu 37 9 5968614 5968614 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:5968614C>T uc003zjq.3 - 3 1833 c.1617G>A c.(1615-1617)CAG>CAA p.Q539Q NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 539 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AATTATTTTCCTGCTCTTTCT 0.363 NA 75 68 0 0 0.00361 0 0 C9orf93 203238 broad.mit.edu 37 9 15971692 15971692 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:15971692C>A uc003zmd.2 + 26 4154 c.3839C>A c.(3838-3840)CCA>CAA p.P1280Q C9orf93_uc003zme.2_Missense_Mutation_p.P1195Q|C9orf93_uc011lmu.1_Missense_Mutation_p.P1288Q NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1280 0 GBM - Glioblastoma multiforme(50;4.84e-07) GATTTCTTACCATTGAAAGCT 0.413 NA 14 225 7.93312e-07 9.39252e-07 0.00245 1 0 LINGO2 158038 broad.mit.edu 37 9 27949528 27949528 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:27949528A>C uc003zqu.1 - 2 1336 c.1142T>G c.(1141-1143)ATG>AGG p.M381R LINGO2_uc010mjf.1_Missense_Mutation_p.M381R|LINGO2_uc003zqv.1_Missense_Mutation_p.M381R NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 381 LRRCT.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCCAGCACACATAGGTTGCTG 0.512 NA 35 26 0 0 0.003271 0 0 CD72 971 broad.mit.edu 37 9 35618283 35618283 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:35618283G>T uc003zxb.2 - 1 142 c.18C>A c.(16-18)ACC>ACA p.T6T CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Silent_p.T6T|CD72_uc010mkv.2_Silent_p.T6T|CD72_uc010mkw.1_Intron NM_001782 NP_001773 P21854 CD72_HUMAN CD72 molecule 6 Cytoplasmic (Potential). axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATCTGCATAGGTGATGGCCT 0.582 NA 21 15 3.8784e-16 5.79452e-16 0.012319 1 0 ALDH1B1 219 broad.mit.edu 37 9 38396132 38396132 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:38396132G>T uc004aay.2 + 2 499 c.387G>T c.(385-387)AAG>AAT p.K129N NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 129 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) ACAATGGGAAGCCTTTCCAAG 0.577 NA 40 138 2.24893e-16 3.3734e-16 0.009718 1 0 FAM75A6 389730 broad.mit.edu 37 9 43626635 43626635 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:43626635G>C uc011lrb.1 - 4 2081 c.2052C>G c.(2050-2052)AGC>AGG p.S684R NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 684 integral to membrane 0 TCCGTGGGAAGCTTTTCATGT 0.517 NA 3 132 0 0 0.009096 0 0 GDA 9615 broad.mit.edu 37 9 74828893 74828893 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:74828893C>G uc004aiq.2 + 5 747 c.564C>G c.(562-564)ATC>ATG p.I188M GDA_uc011lse.1_Missense_Mutation_p.I114M|GDA_uc011lsf.1_Missense_Mutation_p.I114M|GDA_uc004air.2_Missense_Mutation_p.I188M|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.I146M|GDA_uc004ait.1_Missense_Mutation_p.I114M NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 188 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) AGGAATCGATCAAGGAAACTG 0.418 NA 10 34 0 0 0.006214 0 0 RASEF 158158 broad.mit.edu 37 9 85619415 85619415 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:85619415G>A uc004amo.1 - 9 1461 c.1200C>T c.(1198-1200)GAC>GAT p.D400D NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 400 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 TAACATACCTGTCATAGCCTA 0.338 NA 20 32 0 0 0.002299 0 0 CDK20 23552 broad.mit.edu 37 9 90588866 90588866 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:90588866C>A uc004apr.2 - 2 466 c.160G>T c.(160-162)GCT>TCT p.A54S CDK20_uc004aps.2_Missense_Mutation_p.A54S|CDK20_uc004apt.2_Missense_Mutation_p.A67S|CDK20_uc004apu.2_Missense_Mutation_p.A54S NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN cell cycle related kinase isoform 3 54 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 TCCTGCAGAGCCTTAATCTCC 0.562 NA 150 46 1.3337e-71 2.62213e-71 0.00361 1 0 NXNL2 158046 broad.mit.edu 37 9 91150599 91150599 + Missense_Mutation SNP C C A rs146062765 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:91150599C>A uc011ltj.1 + 1 584 c.250C>A c.(250-252)CGC>AGC p.R84S NXNL2_uc004aqa.2_Missense_Mutation_p.R84S NM_001161625 NP_001155097 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 isoform 1 84 Thioredoxin. 0 GGACTTCATGCGCGAGCTGCA 0.617 NA 58 17 1.48873e-21 2.44762e-21 0.00361 1 0 KIAA1529 57653 broad.mit.edu 37 9 100057180 100057180 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:100057180G>T uc011lut.1 + 12 1077 c.304G>T c.(304-306)GTG>TTG p.V102L KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Missense_Mutation_p.V102L|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) CATCAACCCTGTGCTTGTCAG 0.428 NA 10 31 1.61879e-10 2.14227e-10 0.001368 1 0 HEMGN 55363 broad.mit.edu 37 9 100692396 100692396 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:100692396G>C uc004axy.2 - 3 1389 c.1281C>G c.(1279-1281)CAC>CAG p.H427Q HEMGN_uc004axz.2_Missense_Mutation_p.H427Q NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 427 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) CTGTTTCTTGGTGTGGTTCTG 0.448 NA 3 174 0 0 0.004672 0 0 COL15A1 1306 broad.mit.edu 37 9 101797398 101797398 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:101797398C>A uc004azb.1 + 18 2388 c.2182C>A c.(2182-2184)CCC>ACC p.P728T NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 728 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) ACCCCCTGGGCCCCCAGGCCC 0.572 NA 15 43 4.7546e-09 6.00708e-09 0.004007 1 0 TMEFF1 8577 broad.mit.edu 37 9 103310025 103310025 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:103310025G>T uc004baz.1 + 6 671 c.561_splice c.e6-1 p.G187_splice TMEFF1_uc004bay.1_Splice_Site_p.G261_splice NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) TTTTCCAACAGGTGTGTATGT 0.348 NA 20 41 4.35082e-09 5.51543e-09 0.010504 1 0 BAAT 570 broad.mit.edu 37 9 104125073 104125073 + Silent SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:104125073A>C uc010mtd.2 - 4 1003 c.894T>G c.(892-894)ACT>ACG p.T298T BAAT_uc004bbd.3_Silent_p.T298T NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 298 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TTGTCTCAAAAGTGCGATAGA 0.453 NA 4 76 0 0 0.009096 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433358 104433358 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:104433358T>C uc004bbp.1 - 3 1937 c.1336A>G c.(1336-1338)AGT>GGT p.S446G GRIN3A_uc004bbq.1_Missense_Mutation_p.S446G NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 446 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ATGGAACCACTGAGGCCTCTG 0.458 NA 24 66 0 0 0.003954 0 0 TLR4 7099 broad.mit.edu 37 9 120476380 120476380 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:120476380G>T uc004bjz.2 + 3 2265 c.1974G>T c.(1972-1974)CTG>CTT p.L658L TLR4_uc004bka.2_Silent_p.L618L|TLR4_uc004bkb.2_Silent_p.L458L NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 658 Cytoplasmic (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ATTTTCACCTGATGCTTCTTG 0.433 NA 14 31 3.27435e-08 4.01561e-08 0.00245 1 0 MAPKAP1 79109 broad.mit.edu 37 9 128434679 128434679 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:128434679C>A uc004bpv.2 - 2 508 c.175G>T c.(175-177)GGT>TGT p.G59C MAPKAP1_uc004bpw.2_Intron|MAPKAP1_uc004bpx.2_Intron|MAPKAP1_uc004bpy.2_Missense_Mutation_p.G59C|MAPKAP1_uc004bpz.2_Missense_Mutation_p.G59C|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.G59C NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 59 Interaction with MAP3K2. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 TGAGTCTCACCATTGCTTCCC 0.433 NA 13 23 1.5842e-08 1.97828e-08 0.001855 1 0 ODF2 4957 broad.mit.edu 37 9 131262412 131262412 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:131262412A>C uc011mbd.1 + 21 2679 c.2368A>C c.(2368-2370)AAC>CAC p.N790H ODF2_uc004bvb.2_Missense_Mutation_p.N766H|ODF2_uc011mbe.1_Missense_Mutation_p.N785H|ODF2_uc004bvc.2_Missense_Mutation_p.N766H|ODF2_uc004bvd.3_Missense_Mutation_p.N790H|ODF2_uc004bvh.2_Missense_Mutation_p.N196H NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 790 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 CGAGAGCACCAACCGCAGCAT 0.498 NA 5 67 0 0 0.001168 0 0 MXRA5 25878 broad.mit.edu 37 X 3228241 3228241 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:3228241C>G uc004crg.3 - 7 8160 c.8003G>C c.(8002-8004)CGT>CCT p.R2668P NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2668 Ig-like C2-type 11. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCAGGAGAAACGTCCCTGCCC 0.597 NA 30 62 0 0 0.010818 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811257 5811257 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:5811257C>T uc010ndh.2 - 6 2553 c.2052G>A c.(2050-2052)TCG>TCA p.S684S NLGN4X_uc004crp.2_Silent_p.S704S|NLGN4X_uc004crq.2_Silent_p.S684S|NLGN4X_uc010ndi.2_Silent_p.S721S|NLGN4X_uc004crr.2_Silent_p.S684S|NLGN4X_uc010ndj.2_Silent_p.S684S NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 684 Helical; (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 GGAAGAGGAGCGACGCCCCGA 0.527 NA 28 89 0 0 0.00632 0 0 KAL1 3730 broad.mit.edu 37 X 8503631 8503631 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:8503631C>A uc004csf.2 - 12 1992 c.1842_splice c.e12+1 p.S614_splice NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 GTGGGACCTACGGAAGGCAGG 0.493 NA 12 33 1.08611e-07 1.32123e-07 0.010729 1 0 TLR7 51284 broad.mit.edu 37 X 12905272 12905272 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:12905272T>A uc004cvc.2 + 3 1784 c.1645T>A c.(1645-1647)TTC>ATC p.F549I NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 549 Extracellular (Potential).|LRR 18. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|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|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) ATATTTGGACTTCTCCAACAA 0.388 NA 213 381 0 0 0.00361 0 0 GLRA2 2742 broad.mit.edu 37 X 14627195 14627195 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:14627195G>T uc010nep.2 + 8 1130 c.798G>T c.(796-798)CTG>CTT p.L266L GLRA2_uc010neq.2_Silent_p.L266L|GLRA2_uc004cwe.3_Silent_p.L266L|GLRA2_uc011mio.1_Silent_p.L177L|GLRA2_uc011mip.1_Silent_p.L244L NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 266 Helical; (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCCCAAGCCTGCTTATAGTAA 0.453 NA 58 132 3.7469e-33 6.7498e-33 0.00361 1 0 GRPR 2925 broad.mit.edu 37 X 16142118 16142118 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:16142118C>A uc004cxj.2 + 1 695 c.42C>A c.(40-42)GAC>GAA p.D14E NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 14 Extracellular (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) TGGAGGTGGACCATTTCATGC 0.453 NA OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 134 272 1.0049e-60 1.94522e-60 0.00361 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766660 27766660 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:27766660C>A uc011mjy.1 + 1 1735 c.1648C>A c.(1648-1650)CTT>ATT p.L550I NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 TGCCACTGAGCTTACTGGGTT 0.488 NA 9 20 9.70103e-10 1.25298e-09 0.008291 1 0 MAGEB10 139422 broad.mit.edu 37 X 27839829 27839829 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:27839829G>T uc004dbw.2 + 3 633 c.406G>T c.(406-408)GAT>TAT p.D136Y NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 136 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 TACAAAGGCAGATATGCTGAG 0.443 NA 37 73 1.59932e-28 2.78771e-28 0.007835 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254366 30254366 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:30254366G>T uc004dca.1 + 5 1062 c.325G>T c.(325-327)GAC>TAC p.D109Y NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 109 0 GTCTCGCACAGACCCTCTAAT 0.398 NA 17 51 2.48551e-13 3.47878e-13 0.00499 1 0 DMD 1756 broad.mit.edu 37 X 31462617 31462617 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:31462617G>T uc004dda.1 - 60 9309 c.9065C>A c.(9064-9066)ACC>AAC p.T3022N DMD_uc004dcq.1_Missense_Mutation_p.T293N|DMD_uc004dcr.1_Missense_Mutation_p.T562N|DMD_uc004dcs.1_Missense_Mutation_p.T562N|DMD_uc004dct.1_Missense_Mutation_p.T562N|DMD_uc004dcu.1_Missense_Mutation_p.T562N|DMD_uc004dcv.1_Missense_Mutation_p.T562N|DMD_uc004dcw.2_Missense_Mutation_p.T1678N|DMD_uc004dcx.2_Missense_Mutation_p.T1681N|DMD_uc004dcz.2_Missense_Mutation_p.T2899N|DMD_uc004dcy.1_Missense_Mutation_p.T3018N|DMD_uc004ddb.1_Missense_Mutation_p.T3014N NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3022 Spectrin 22. 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) CTTCCATCTGGTGTTCAGGTC 0.413 NA 56 72 2.18419e-29 3.85175e-29 0.00361 1 0 OTC 5009 broad.mit.edu 37 X 38271170 38271170 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:38271170C>A uc004def.3 + 9 1137 c.923C>A c.(922-924)CCA>CAA p.P308Q NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 308 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) CCCAGAAAGCCAGAAGAAGTG 0.423 NA 89 153 7.61764e-41 1.42335e-40 0.00361 1 0 RP2 6102 broad.mit.edu 37 X 46713296 46713296 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:46713296G>T uc004dgw.3 + 2 677 c.488G>T c.(487-489)GGG>GTG p.G163V NM_006915 NP_008846 O75695 XRP2_HUMAN XRP2 protein 163 C-CAP/cofactor C-like. cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding 0 AAAGATGCAGGGCTAAGTATC 0.408 NA 49 82 1.63038e-21 2.67467e-21 0.00361 1 0 ZNF157 7712 broad.mit.edu 37 X 47272883 47272883 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:47272883G>T uc004dhr.1 + 4 1480 c.1411G>T c.(1411-1413)GAG>TAG p.E471* NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 471 C2H2-type 12. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GAGACCCTTTGAGTGTCAAGA 0.453 NA 18 31 1.00905e-13 1.42822e-13 0.008871 1 0 SSX6 280657 broad.mit.edu 37 X 47969414 47969414 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:47969414A>T uc004dix.1 + 2 173 c.51A>T c.(49-51)GCA>GCT p.A17A SSX6_uc011mlv.1_Silent_p.A17A NM_173357 NP_775493 SubName: Full=Putative uncharacterized protein SSX1; 0 ATGCTAAAGCATCAGAGAAGA 0.567 NA 41 55 0 0 0.010771 0 0 EBP 10682 broad.mit.edu 37 X 48386709 48386709 + Nonsense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:48386709G>A uc004djx.3 + 5 762 c.557G>A c.(556-558)TGG>TAG p.W186* EBP_uc004djy.3_Nonsense_Mutation_p.W186*|EBP_uc004djz.2_Nonsense_Mutation_p.W186* NM_006579 NP_006570 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) 186 Helical; (Potential). cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity ovary(1) 1 CTCTACTTCTGGTTTTACTTT 0.567 Ovarian(41;550 1000 33077 33474 52335) NA 3 23 0 0 0.004672 0 0 ERAS 3266 broad.mit.edu 37 X 48687822 48687822 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:48687822G>A uc004dky.1 + 1 540 c.289G>A c.(289-291)GCA>ACA p.A97T NM_181532 NP_853510 Q7Z444 RASE_HUMAN ES cell expressed Ras precursor 97 GTP (By similarity). small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity lung(4)|urinary_tract(1) 5 GCTGGACACAGCAGGGCAGGC 0.602 NA 31 86 0 0 0.003271 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49142649 49142649 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:49142649A>T uc004dnh.1 + 4 1513 c.1497A>T c.(1495-1497)CTA>CTT p.L499L PPP1R3F_uc011mnd.1_Silent_p.L170L|PPP1R3F_uc004dni.2_Silent_p.L153L|PPP1R3F_uc004dnj.1_Silent_p.L153L NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 499 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) TGAGCCGCCTACGGGCTGCTG 0.682 NA 3 19 0 0 0.004672 0 0 CCNB3 85417 broad.mit.edu 37 X 50053545 50053545 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:50053545G>A uc004dox.3 + 6 2674 c.2376G>A c.(2374-2376)GCG>GCA p.A792A CCNB3_uc004doy.2_Silent_p.A792A|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 792 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) CCAGCATTGCGGAGGGGGAGA 0.517 NA 4 21 0 0 0.009096 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377002 50377002 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:50377002G>T uc004dpe.2 - 4 2097 c.2071C>A c.(2071-2073)CCT>ACT p.P691T SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.P575T NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 691 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GACTGGCCAGGCCTCTGGCCA 0.582 NA 22 17 3.85864e-22 6.39991e-22 0.00278 1 0 MAGED1 9500 broad.mit.edu 37 X 51641289 51641289 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:51641289G>T uc004dpm.2 + 8 1833 c.1738G>T c.(1738-1740)GCT>TCT p.A580S MAGED1_uc004dpn.2_Missense_Mutation_p.A636S|MAGED1_uc004dpo.2_Missense_Mutation_p.A580S NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 580 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) TGCCAGTGAGGGTGAGTGGCT 0.532 NA Multiple Myeloma(10;0.10) 31 54 8.88839e-20 1.415e-19 0.010818 1 0 MAGED1 9500 broad.mit.edu 37 X 51641678 51641678 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:51641678G>T uc004dpm.2 + 10 1878 c.1783G>T c.(1783-1785)GTG>TTG p.V595L MAGED1_uc004dpn.2_Missense_Mutation_p.V651L|MAGED1_uc004dpo.2_Missense_Mutation_p.V595L NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 595 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) TACCTTCAGGGTGAGACATCC 0.443 NA Multiple Myeloma(10;0.10) 4 41 0.00909568 0.0095258 0.009096 1 0 TSPYL2 64061 broad.mit.edu 37 X 53114989 53114989 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:53114989T>G uc004drw.2 + 6 1547 c.1415T>G c.(1414-1416)ATC>AGC p.I472S TSPYL2_uc004drv.2_3'UTR|TSPYL2_uc004drx.1_Missense_Mutation_p.I77S NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 472 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 ATAACTGACATCAATGAGAAC 0.338 NA 37 66 0 0 0.005524 0 0 WNK3 65267 broad.mit.edu 37 X 54337611 54337611 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:54337611T>C uc004dtd.1 - 3 1090 c.651A>G c.(649-651)TTA>TTG p.L217L WNK3_uc004dtc.1_Silent_p.L217L NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 217 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TCTTTCCTTTTAATATAGATT 0.383 NA 32 31 0 0 0.009535 0 0 TRO 7216 broad.mit.edu 37 X 54950180 54950180 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:54950180C>A uc004dtq.2 + 3 1322 c.1215C>A c.(1213-1215)ACC>ACA p.T405T TRO_uc011moj.1_Silent_p.T348T|TRO_uc004dts.2_Silent_p.T405T|TRO_uc004dtr.2_Silent_p.T405T|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 405 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CAACCAGGACCCGGGGCAAAA 0.478 NA 6 11 0.00116845 0.00125871 0.001168 1 0 MTMR8 55613 broad.mit.edu 37 X 63490885 63490885 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:63490885A>T uc004dvs.2 - 13 1618 c.1550T>A c.(1549-1551)CTC>CAC p.L517H MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 517 Potential. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 AATTTCCAGGAGGCTCTCTAG 0.468 NA 9 44 0 0 0.008291 0 0 PJA1 64219 broad.mit.edu 37 X 68381543 68381543 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:68381543G>A uc004dxh.2 - 2 1825 c.1539C>T c.(1537-1539)CTC>CTT p.L513L PJA1_uc011mpi.1_Silent_p.L231L|PJA1_uc004dxg.2_Silent_p.L325L|PJA1_uc004dxi.2_Silent_p.L458L NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 513 zinc ion binding 0 ATCCATCAAAGAGGCTCCAAT 0.507 NA 26 117 0 0 0.00333 0 0 PJA1 64219 broad.mit.edu 37 X 68381584 68381584 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:68381584C>T uc004dxh.2 - 2 1784 c.1498G>A c.(1498-1500)GAC>AAC p.D500N PJA1_uc011mpi.1_Missense_Mutation_p.D218N|PJA1_uc004dxg.2_Missense_Mutation_p.D312N|PJA1_uc004dxi.2_Missense_Mutation_p.D445N NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 500 zinc ion binding 0 ACACTGGAGTCATCTTCAAGG 0.483 NA 70 134 0 0 0.00361 0 0 MED12 9968 broad.mit.edu 37 X 70345279 70345279 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:70345279C>A uc004dyy.2 + 16 2504 c.2305C>A c.(2305-2307)CAT>AAT p.H769N MED12_uc011mpq.1_Missense_Mutation_p.H769N|MED12_uc004dyz.2_Missense_Mutation_p.H769N|MED12_uc004dza.2_Missense_Mutation_p.H616N NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 769 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TGATGCCCGCCATGCCATCAA 0.532 NA 12 32 5.50884e-06 6.37197e-06 0.001368 1 0 NLGN3 54413 broad.mit.edu 37 X 70389915 70389915 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:70389915C>A uc004dzb.2 + 7 2759 c.2455C>A c.(2455-2457)CTG>ATG p.L819M NLGN3_uc004dzc.2_Missense_Mutation_p.L702M|NLGN3_uc011mps.1_Missense_Mutation_p.L799M|NLGN3_uc004dze.2_Missense_Mutation_p.L637M NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 839 Cytoplasmic (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) CAGTACCGGGCTGCCCCACTC 0.537 Esophageal Squamous(103;760 1488 16849 22250 40351) NA 7 24 0.00198382 0.00211889 0.001984 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912725 77912725 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:77912725G>T uc004edc.1 - 2 1489 c.1193C>A c.(1192-1194)CCC>CAC p.P398H NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 398 nucleic acid binding|zinc ion binding ovary(1) 1 TAATGGATTGGGATCAGGCTT 0.507 NA 71 67 6.5469e-37 1.20829e-36 0.00361 1 0 ITM2A 9452 broad.mit.edu 37 X 78616925 78616925 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:78616925C>T uc004edh.2 - 5 939 c.604G>A c.(604-606)GTG>ATG p.V202M ITM2A_uc011mqr.1_Missense_Mutation_p.V158M NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 202 BRICHOS. integral to membrane protein binding lung(2) 2 ATTTCCTCCACAGCAACTAGG 0.388 NA 5 60 0 0 0.001168 0 0 HDX 139324 broad.mit.edu 37 X 83599332 83599332 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:83599332G>C uc004eek.1 - 6 1695 c.1586C>G c.(1585-1587)GCT>GGT p.A529G HDX_uc011mqv.1_Missense_Mutation_p.A529G|HDX_uc004eel.1_Missense_Mutation_p.A471G NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 529 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 TTCAGGCCCAGCTTCCTCTCC 0.453 Pancreas(53;231 1169 36156 43751 51139) NA 22 83 0 0 0.010504 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927894 92927894 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:92927894G>T uc004efq.2 - 1 715 c.410C>A c.(409-411)GCT>GAT p.A137D FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 137 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 GTTGAGTTCAGCATATTTTCT 0.388 NA 25 47 8.24728e-16 1.22008e-15 0.004656 1 0 PCDH19 57526 broad.mit.edu 37 X 99657617 99657617 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:99657617G>T uc010nmz.2 - 3 4197 c.2521C>A c.(2521-2523)CGC>AGC p.R841S PCDH19_uc004efw.3_Missense_Mutation_p.R794S|PCDH19_uc004efx.3_Missense_Mutation_p.R794S NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 841 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CTGGTGTTGCGGGTATTCTGG 0.567 NA 21 34 9.95505e-16 1.46409e-15 0.002299 1 0 BTK 695 broad.mit.edu 37 X 100626677 100626677 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:100626677C>A uc004ehg.2 - 4 446 c.253G>T c.(253-255)GAG>TAG p.E85* BTK_uc010nnn.2_Nonsense_Mutation_p.E85*|BTK_uc010nno.2_Nonsense_Mutation_p.E119*|BTK_uc004ehi.2_Nonsense_Mutation_p.E85* NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 85 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TCACTGGACTCTTCACCTCTT 0.393 NA Agammaglobulinemia_X-linked 9 149 2.74318e-10 3.61754e-10 0.006214 1 0 ARMCX2 9823 broad.mit.edu 37 X 100911043 100911043 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:100911043G>T uc004eid.2 - 3 1887 c.1532C>A c.(1531-1533)GCA>GAA p.A511E ARMCX2_uc004eie.3_Missense_Mutation_p.A511E|ARMCX2_uc004eif.3_Missense_Mutation_p.A511E|ARMCX2_uc004eig.3_Missense_Mutation_p.A511E|ARMCX2_uc010nnt.2_Missense_Mutation_p.A511E NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 511 ARM 3. integral to membrane binding ovary(6) 6 GAAAAAGTTTGCAATGGAATT 0.368 NA 118 187 3.08405e-71 6.04763e-71 0.00361 1 0 MORF4L2 9643 broad.mit.edu 37 X 102931676 102931676 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:102931676C>A uc004ekw.2 - 4 1512 c.280G>T c.(280-282)GCA>TCA p.A94S MORF4L2_uc004ela.2_Missense_Mutation_p.A94S|MORF4L2_uc004ekx.2_Missense_Mutation_p.A94S|MORF4L2_uc004elb.2_Missense_Mutation_p.A94S|MORF4L2_uc004eky.2_Missense_Mutation_p.A94S|MORF4L2_uc010nos.2_Missense_Mutation_p.A94S|MORF4L2_uc004ekz.2_Missense_Mutation_p.A94S|MORF4L2_uc011mry.1_Missense_Mutation_p.A94S|MORF4L2_uc011mrz.1_Missense_Mutation_p.A94S|MORF4L2_uc004elc.2_Missense_Mutation_p.A94S|MORF4L2_uc004elf.2_Missense_Mutation_p.A94S|MORF4L2_uc004ele.2_Missense_Mutation_p.A94S|MORF4L2_uc011msa.1_Missense_Mutation_p.A94S|MORF4L2_uc011msb.1_Missense_Mutation_p.A94S|MORF4L2_uc011msc.1_Missense_Mutation_p.A94S|MORF4L2_uc011msd.1_Missense_Mutation_p.A94S|MORF4L2_uc004eld.2_Missense_Mutation_p.A94S NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 94 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 GGCTGAGGTGCTTCGCTGGTA 0.537 NA 11 174 3.86212e-05 4.37978e-05 0.008291 1 0 ESX1 80712 broad.mit.edu 37 X 103495020 103495020 + Silent SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:103495020C>G uc004ely.2 - 4 1168 c.1110G>C c.(1108-1110)CCG>CCC p.P370P NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 370 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.|15. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCGCCATGGGCGGCCCGGGTG 0.697 Pancreas(200;1705 2227 25194 28471 45274) NA 14 33 0 0 0.001855 0 0 CLDN2 9075 broad.mit.edu 37 X 106171518 106171518 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:106171518C>A uc004emq.1 + 2 579 c.60C>A c.(58-60)GGC>GGA p.G20G MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Silent_p.G20G NM_020384 NP_065117 P57739 CLD2_HUMAN claudin 2 20 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 GGCTTTTGGGCACACTGGTTG 0.557 NA 42 65 4.44401e-20 7.10476e-20 0.010771 1 0 COL4A6 1288 broad.mit.edu 37 X 107402768 107402768 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107402768A>T uc004enw.3 - 44 4842 c.4739T>A c.(4738-4740)GTG>GAG p.V1580E COL4A6_uc004env.3_Missense_Mutation_p.V1579E|COL4A6_uc011msn.1_Missense_Mutation_p.V1555E|COL4A6_uc010npk.2_Missense_Mutation_p.V1522E|COL4A6_uc011msm.1_Missense_Mutation_p.V114E|COL4A6_uc010npj.2_Missense_Mutation_p.V59E NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1580 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 CTGGCTGTGCACAGCAATGGC 0.612 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 35 59 0 0 0.00874 0 0 COL4A5 1287 broad.mit.edu 37 X 107807133 107807133 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107807133C>A uc004enz.1 + 4 455 c.253C>A c.(253-255)CCA>ACA p.P85T COL4A5_uc011mso.1_Missense_Mutation_p.P85T NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 85 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 AATTCCAGGGCCACCAGGACC 0.328 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 13 29 1.15088e-07 1.39776e-07 0.004007 1 0 COL4A5 1287 broad.mit.edu 37 X 107935990 107935990 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107935990G>T uc004enz.1 + 49 4743 c.4541G>T c.(4540-4542)AGC>ATC p.S1514I COL4A5_uc011mso.1_Missense_Mutation_p.S1511I|COL4A5_uc011msp.1_Missense_Mutation_p.S190I NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1508 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 ACGGCTGGCAGCTGCCTTCGT 0.408 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 14 85 1.3612e-06 1.60154e-06 0.003163 1 0 IRS4 8471 broad.mit.edu 37 X 107979482 107979482 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107979482G>T uc004eoc.2 - 1 126 c.93C>A c.(91-93)ACC>ACA p.T31T NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 31 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GAAGCGGGGTGGTCACCACTG 0.642 NA 20 54 2.4624e-09 3.15337e-09 0.008871 1 0 TRPC5 7224 broad.mit.edu 37 X 111025234 111025234 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:111025234A>G uc004epl.1 - 8 2948 c.2029T>C c.(2029-2031)TTC>CTC p.F677L TRPC5_uc004epm.1_Missense_Mutation_p.F677L NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 677 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GTGTTGTTGAACCAGTTACCA 0.448 NA 15 237 0 0 0.007413 0 0 PLS3 5358 broad.mit.edu 37 X 114856611 114856611 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:114856611G>C uc004eqd.2 + 3 517 c.127G>C c.(127-129)GAA>CAA p.E43Q PLS3_uc010nqf.2_RNA|PLS3_uc010nqg.2_Missense_Mutation_p.E43Q|PLS3_uc011mtf.1_Missense_Mutation_p.E21Q|PLS3_uc004eqe.2_Missense_Mutation_p.E43Q|PLS3_uc011mtg.1_Missense_Mutation_p.E43Q|PLS3_uc011mth.1_5'UTR NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 43 EF-hand 1. cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 GCTCTTCAAGGAAGCTAATAT 0.348 Colon(160;1047 1864 8490 12969 29601) NA 56 93 0 0 0.00361 0 0 UPF3B 65109 broad.mit.edu 37 X 118979170 118979170 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:118979170T>A uc004erz.1 - 4 537 c.460A>T c.(460-462)ATC>TTC p.I154F UPF3B_uc004esa.1_Missense_Mutation_p.I154F NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 154 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 CCATCATCGATAGTCCCGACT 0.333 NA 24 152 0 0 0.004656 0 0 RNF113A 7737 broad.mit.edu 37 X 119004598 119004598 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:119004598C>A uc004esb.2 - 1 1194 c.979G>T c.(979-981)GGT>TGT p.G327C NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 327 nucleic acid binding|zinc ion binding breast(2) 2 TCGGAAGCACCACCCTCTCCT 0.443 NA 117 217 2.78246e-50 5.33127e-50 0.00361 1 0 CUL4B 8450 broad.mit.edu 37 X 119694176 119694176 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:119694176G>T uc004esw.2 - 3 809 c.372C>A c.(370-372)ACC>ACA p.T124T CUL4B_uc004esv.2_Silent_p.T106T NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 124 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 CAAACTCCAGGGTGTCTTCAA 0.473 NA 17 77 3.51602e-12 4.84015e-12 0.008871 1 0 THOC2 57187 broad.mit.edu 37 X 122840794 122840794 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:122840794G>T uc004etu.2 - 3 168 c.136C>A c.(136-138)CAG>AAG p.Q46K THOC2_uc011muh.1_5'UTR|THOC2_uc011mui.1_5'UTR NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 46 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 AGAGCTTGCTGGAAATCTGTT 0.299 NA 6 22 0.00116845 0.00125871 0.001168 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686305 125686305 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:125686305G>C uc004eul.2 - 1 538 c.287C>G c.(286-288)ACG>AGG p.T96R NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 96 skin(3)|ovary(1) 4 CTTGTTGACCGTGCCCAGCTC 0.657 NA 22 58 0 0 0.002299 0 0 OCRL 4952 broad.mit.edu 37 X 128699806 128699806 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:128699806G>A uc004euq.2 + 13 1467 c.1302G>A c.(1300-1302)GAG>GAA p.E434E OCRL_uc004eur.2_Silent_p.E434E NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 434 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 ATGCCAATGAGGTGAAAAGTC 0.358 NA 78 161 0 0 0.00361 0 0 RAB33A 9363 broad.mit.edu 37 X 129318489 129318489 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:129318489C>A uc004evl.2 + 2 753 c.489C>A c.(487-489)TCC>TCA p.S163S RAB33A_uc010nre.2_RNA NM_004794 NP_004785 Q14088 RB33A_HUMAN Ras-related protein Rab-33A 163 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding 0 AGGTGCCCTCCAACTTAGCCC 0.517 NA 15 49 6.31663e-08 7.72146e-08 0.003163 1 0 GPR119 139760 broad.mit.edu 37 X 129518863 129518863 + Missense_Mutation SNP C C A rs142057970 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:129518863C>A uc011muv.1 - 1 559 c.559G>T c.(559-561)GAC>TAC p.D187Y NM_178471 NP_848566 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 187 Cytoplasmic (Potential). integral to membrane|plasma membrane lipid binding ovary(2) 2 TTGAGCATGTCGCAGTAGAAG 0.542 NA 40 48 9.88483e-10 1.27453e-09 0.007835 1 0 CCDC160 347475 broad.mit.edu 37 X 133378823 133378823 + Translation_Start_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:133378823C>A uc011mvj.1 + 2 314 c.-7C>A c.(-9--5)GCCTG>GCATG NM_001101357 NP_001094827 A6NGH7 CC160_HUMAN coiled-coil domain containing 160 skin(1) 1 GAAGAGGTGCCTGGAGAAATG 0.358 NA 6 9 0.00198382 0.00211889 0.001984 1 0 GPR112 139378 broad.mit.edu 37 X 135428831 135428831 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:135428831C>A uc004ezu.1 + 6 3257 c.2966C>A c.(2965-2967)TCC>TAC p.S989Y GPR112_uc010nsb.1_Missense_Mutation_p.S784Y|GPR112_uc010nsc.1_Missense_Mutation_p.S756Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 989 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) ACAGCTACGTCCTTGTCTGAT 0.493 NA 116 175 1.14936e-50 2.20784e-50 0.00361 1 0 BRS3 680 broad.mit.edu 37 X 135574143 135574143 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:135574143C>A uc004ezv.1 + 3 958 c.809C>A c.(808-810)GCC>GAC p.A270D NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 270 Cytoplasmic (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) AAGAGAATTGCCAGAACGGTA 0.328 NA 57 75 5.12918e-33 9.21783e-33 0.00361 1 0 GPR101 83550 broad.mit.edu 37 X 136112902 136112902 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:136112902G>T uc011mwh.1 - 1 932 c.932C>A c.(931-933)ACG>AAG p.T311K NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 311 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GCTGGCCACCGTGCTGCTCTC 0.607 NA 122 184 9.48018e-61 1.83984e-60 0.00361 1 0 ZIC3 7547 broad.mit.edu 37 X 136652125 136652125 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:136652125G>T uc004fak.2 + 3 1805 c.1300G>T c.(1300-1302)GCT>TCT p.A434S NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 434 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) ACCCGCTATAGCTTCTGCAAA 0.428 NA 94 167 1.42366e-38 2.64695e-38 0.00361 1 0 FGF13 2258 broad.mit.edu 37 X 137939714 137939714 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:137939714C>A uc004faq.2 - 2 353 c.177G>T c.(175-177)CCG>CCT p.P59P FGF13_uc011mwi.1_Silent_p.P30P|FGF13_uc004far.2_Silent_p.P30P|FGF13_uc011mwj.1_Silent_p.P59P|FGF13_uc011mwk.1_Intron NM_001139502 NP_001132974 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 3 198 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTTGCTTCAGCGGGCAGCAGA 0.433 NA 60 124 9.68594e-22 1.59595e-21 0.00361 1 0 FGF13 2258 broad.mit.edu 37 X 137939775 137939775 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:137939775G>A uc004faq.2 - 2 292 c.116C>T c.(115-117)GCG>GTG p.A39V FGF13_uc011mwi.1_Missense_Mutation_p.A10V|FGF13_uc004far.2_Missense_Mutation_p.A10V|FGF13_uc011mwj.1_Missense_Mutation_p.A39V|FGF13_uc011mwk.1_Intron NM_001139502 NP_001132974 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 3 Error:Variant_position_missing_in_Q92913_after_alignment cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTTTAATTCCGCAGATTGGAT 0.463 NA 24 74 0 0 0.002299 0 0 ATP11C 286410 broad.mit.edu 37 X 138908907 138908907 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:138908907A>T uc004faz.2 - 2 211 c.112T>A c.(112-114)TAC>AAC p.Y38N ATP11C_uc004fba.2_Missense_Mutation_p.Y38N NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 38 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) TGTGCAATGTAAGCTTCTGTT 0.363 NA 32 50 0 0 0.009535 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795404 142795404 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:142795404C>A uc004fbz.2 - 2 1028 c.274G>T c.(274-276)GCT>TCT p.A92S NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 92 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GATCCTTCAGCTGAGTCTAGG 0.498 NA 178 388 2.02162e-65 3.95398e-65 0.00361 1 0 AFF2 2334 broad.mit.edu 37 X 148072807 148072807 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:148072807T>A uc004fcp.2 + 21 4360 c.3881T>A c.(3880-3882)GTC>GAC p.V1294D AFF2_uc004fcq.2_Missense_Mutation_p.V1284D|AFF2_uc004fcr.2_Missense_Mutation_p.V1255D|AFF2_uc011mxb.1_Missense_Mutation_p.V1259D|AFF2_uc004fcs.2_Missense_Mutation_p.V1259D|AFF2_uc011mxc.1_Missense_Mutation_p.V935D NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1294 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) ACCAATCTTGTCCGCTACGTT 0.522 NA 93 136 0 0 0.00361 0 0 MTMR1 8776 broad.mit.edu 37 X 149905222 149905222 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:149905222G>C uc004fei.2 + 10 1347 c.1212G>C c.(1210-1212)GTG>GTC p.V404V MTMR1_uc011mya.1_Silent_p.V310V|MTMR1_uc004feh.1_Silent_p.V412V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 404 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAATGTGGATGGGACGC 0.438 NA 22 49 0 0 0.002299 0 0 HMGB3 3149 broad.mit.edu 37 X 150156302 150156302 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:150156302C>A uc004fep.2 + 5 610 c.518C>A c.(517-519)GCT>GAT p.A173D HMGB3_uc004feq.2_3'UTR|HMGB3_uc004fer.2_Missense_Mutation_p.A173D NM_005342 NP_005333 O15347 HMGB3_HUMAN high-mobility group box 3 173 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGGGTCCTGCTAAAGTTGCC 0.279 NA 54 74 1.54886e-18 2.39485e-18 0.00361 1 0 PASD1 139135 broad.mit.edu 37 X 150817161 150817161 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:150817161C>A uc004fev.3 + 9 1036 c.704C>A c.(703-705)GCT>GAT p.A235D NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 235 Poly-Ala. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) gctgctgctgctgctATCTCA 0.348 NA 63 99 4.09171e-25 6.95498e-25 0.00361 1 0 GABRA3 2556 broad.mit.edu 37 X 151514097 151514097 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:151514097C>T uc010ntk.1 - 3 458 c.218G>A c.(217-219)CGT>CAT p.R73H NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 73 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTCCAGAAGACGATCCAAGAT 0.473 NSCLC(142;2578 2613 10251 16743) NA 22 98 0 0 0.012319 0 0 GABRQ 55879 broad.mit.edu 37 X 151821209 151821209 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:151821209C>A uc004ffp.1 + 9 1384 c.1364C>A c.(1363-1365)TCC>TAC p.S455Y NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 455 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GATCTCCCCTCCACCTCAGAG 0.597 NA 56 90 1.44317e-28 2.52136e-28 0.00361 1 0 ATP2B3 492 broad.mit.edu 37 X 152825205 152825205 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:152825205G>T uc004fht.1 + 16 2770 c.2644G>T c.(2644-2646)GTG>TTG p.V882L ATP2B3_uc004fhs.1_Missense_Mutation_p.V882L|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 882 Helical; (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) TCTCAAAGCCGTGCAGATGTT 0.617 NA 20 44 1.01871e-10 1.36251e-10 0.008871 1 0 DUSP9 1852 broad.mit.edu 37 X 152914962 152914962 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:152914962C>A uc004fhx.3 + 3 853 c.649C>A c.(649-651)CGG>AGG p.R217R DUSP9_uc004fhy.3_Silent_p.R217R NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 217 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCAGTGCCCGGGATTCCGC 0.597 NA 33 66 4.74835e-14 6.759e-14 0.010818 1 0 AVPR2 554 broad.mit.edu 37 X 153171777 153171777 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153171777A>G uc004fjh.3 + 2 888 c.817A>G c.(817-819)ACG>GCG p.T273A AVPR2_uc004fjg.3_Missense_Mutation_p.T62A|AVPR2_uc004fji.2_Missense_Mutation_p.T273A NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 273 Helical; Name=6; (Potential). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 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) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TGTGAGGATGACGCTAGTGAT 0.672 NA 3 133 0 0 0.004672 0 0 RENBP 5973 broad.mit.edu 37 X 153209095 153209095 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153209095C>T uc004fjo.1 - 5 535 c.365G>A c.(364-366)GGC>GAC p.G122D RENBP_uc011mzh.1_Missense_Mutation_p.G122D NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 122 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 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) N-Acetyl-D-glucosamine(DB00141) GACCGGGCGGCCGTCCCGAGT 0.612 NA 4 109 0 0 0.009096 0 0 HCFC1 3054 broad.mit.edu 37 X 153222985 153222985 + Splice_Site SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153222985C>T uc004fjp.2 - 13 2662 c.2134_splice c.e13-1 p.T712_splice NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 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) GCCCTTTGGTCTGAAAGGGGG 0.627 NA 31 31 0 0 0.007291 0 0 FLNA 2316 broad.mit.edu 37 X 153581773 153581773 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153581773G>C uc004fkk.2 - 37 6162 c.5913C>G c.(5911-5913)ATC>ATG p.I1971M FLNA_uc004fki.2_Missense_Mutation_p.I14M|FLNA_uc011mzn.1_Missense_Mutation_p.I104M|FLNA_uc010nuu.1_Missense_Mutation_p.I1963M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1971 Filamin 18. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) TGTTGATGGGGATGTCGGCAG 0.632 NA 34 65 0 0 0.003755 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716929 153716929 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153716929G>T uc004flq.2 - 3 615 c.351C>A c.(349-351)ATC>ATA p.I117I UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.I117I|SLC10A3_uc004flp.2_Silent_p.I117I NM_001142392 NP_001135864 P09131 P3_HUMAN solute carrier family 10, member 3 isoform 1 117 organic anion transport integral to membrane bile acid:sodium symporter activity ovary(1)|skin(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCACGTTCTTGATGGTCAGCA 0.637 NA 4 143 2.56e-06 2.97941e-06 0.009096 1 0 IKBKG 8517 broad.mit.edu 37 X 153780355 153780355 + Silent SNP C C A rs149511938 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153780355C>A uc004fmb.3 + 2 552 c.138C>A c.(136-138)GGC>GGA p.G46G IKBKG_uc011mzr.1_Silent_p.G114G|IKBKG_uc010nva.2_Silent_p.G34G|IKBKG_uc011mzs.1_Silent_p.G46G|IKBKG_uc004fma.3_RNA|IKBKG_uc004fmc.3_Silent_p.G34G|IKBKG_uc004fmd.2_Silent_p.G46G|IKBKG_uc010nvc.1_Silent_p.G34G|IKBKG_uc010nvd.1_Silent_p.G34G NM_001099857 NP_001093327 Q9Y6K9 NEMO_HUMAN inhibitor of kappa light polypeptide gene 46 Interaction with CHUK/IKBKB. activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus metal ion binding|protein domain specific binding|signal transducer activity 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGAACAGGGCGCTCCTGAGA 0.632 NA Incontinentia_Pigmenttype_2 46 71 9.58827e-17 1.44399e-16 0.00361 1 0 GAB3 139716 broad.mit.edu 37 X 153927787 153927787 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153927787G>T uc004fmj.1 - 6 1172 c.1124C>A c.(1123-1125)CCA>CAA p.P375Q GAB3_uc004fmk.1_Missense_Mutation_p.P376Q|GAB3_uc010nve.1_Missense_Mutation_p.P376Q|GAB3_uc004fml.1_5'UTR NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 375 ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GAACCTGCATGGCTGCAAAAG 0.522 NA 30 32 5.45727e-16 8.08922e-16 0.008361 1 0 F8 2157 broad.mit.edu 37 X 154065972 154065972 + Missense_Mutation SNP G G C rs137852472 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:154065972G>C uc004fmt.2 - 26 7127 c.6956C>G c.(6955-6957)CCG>CGG p.P2319R F8_uc004fms.2_Missense_Mutation_p.P184R NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2319 F5/8 type C 2. P -> L (in HEMA; mild/severe).|P -> S (in HEMA; mild). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGTCAGTAACGGTGGGTCTAG 0.502 NA 14 37 0 0 0.00245 0 0 F8 2157 broad.mit.edu 37 X 154225253 154225253 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:154225253G>A uc004fmt.2 - 3 554 c.383C>T c.(382-384)TCT>TTT p.S128F F8_uc011mzx.1_Missense_Mutation_p.S93F NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 128 Plastocyanin-like 1.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTCACCCTCAGAAGCTTTCCA 0.423 NA 100 168 0 0 0.00361 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525976 176525976 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:176525976delC uc001gkz.2 + 2 1682 c.518delC c.(517-519)ACCfs p.T173fs PAPPA2_uc001gky.1_Frame_Shift_Del_p.T173fs|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 173 Poly-Thr. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCCACTACTACCACCGCCATT 0.577 NA 55 133 --- --- --- --- NA NA NA NA NA USH2A 7399 broad.mit.edu 37 1 216538348 216538348 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:216538348delC uc001hku.1 - 4 1118 c.731delG c.(730-732)GGTfs p.G244fs USH2A_uc001hkv.2_Frame_Shift_Del_p.G244fs NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 244 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTAATTGAACCACTTAGAGT 0.353 NA HNSCC(13;0.011) 23 47 --- --- --- --- NA NA NA NA NA OR2M1P 388762 broad.mit.edu 37 1 248286052 248286053 + Frame_Shift_Del DEL GG GG - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248286052_248286053delGG uc001idy.1 + 1 615_616 c.615_616delGG c.(613-618)CTGGTGfs p.L205fs NR_002141 RecName: Full=Olfactory receptor 2M5; 0 AGGACAAGCTGGTGTCTGTATT 0.505 NA 49 74 --- --- --- --- NA NA NA NA NA MYOF 26509 broad.mit.edu 37 10 95169426 95169426 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:95169426delC uc001kin.2 - 6 627 c.504delG c.(502-504)GGGfs p.G168fs MYOF_uc001kio.2_Frame_Shift_Del_p.G168fs|MYOF_uc001kip.3_Frame_Shift_Del_p.G168fs|MYOF_uc009xuf.2_Frame_Shift_Del_p.G150fs NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 168 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 TCCCAACTGGCCCCTTGGGCC 0.542 NA 164 265 --- --- --- --- NA NA NA NA NA NELL1 4745 broad.mit.edu 37 11 21555993 21555993 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:21555993delC uc001mqe.2 + 16 1872 c.1719delC c.(1717-1719)TACfs p.Y573fs NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Frame_Shift_Del_p.Y601fs|NELL1_uc010rdo.1_Frame_Shift_Del_p.Y516fs|NELL1_uc010rdp.1_Intron|NELL1_uc001mqh.2_Frame_Shift_Del_p.T183fs NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 573 EGF-like 5; calcium-binding (Potential). Y -> H (in Ref. 7; AAB06946). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CAGGGTGGTACCACTGTGAGT 0.517 NA 21 67 --- --- --- --- NA NA NA NA NA OR5T2 219464 broad.mit.edu 37 11 55999938 55999938 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:55999938delC uc010rjc.1 - 1 724 c.724delG c.(724-726)GTGfs p.V242fs NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 242 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATAGAGCCCACAAAGTAGAAG 0.433 NA 60 86 --- --- --- --- NA NA NA NA NA DCLK1 9201 broad.mit.edu 37 13 36686012 36686012 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:36686012delC uc001uvf.2 - 3 950 c.717delG c.(715-717)GGGfs p.G239fs NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 239 Doublecortin 2. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TTACCTGTTTCCCATCCAACG 0.483 NA 13 81 --- --- --- --- NA NA NA NA NA ZC3H13 23091 broad.mit.edu 37 13 46549613 46549616 + Frame_Shift_Del DEL CTCT CTCT - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 CTCT CTCT - - CTCT CTCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:46549613_46549616delCTCT uc010tfw.1 - 11 2276_2279 c.2270_2273delAGAG c.(2269-2274)GAGAGGfs p.E757fs ZC3H13_uc001vas.1_Frame_Shift_Del_p.E757fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.E757fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 757_758 Arg/Glu-rich.|Potential. 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) ctctctctccctctctctctcttc 0.152 Esophageal Squamous(187;747 2077 11056 31291 44172) NA 30 33 --- --- --- --- NA NA NA NA NA GPC6 10082 broad.mit.edu 37 13 94482692 94482704 + Frame_Shift_Del DEL ACGTGCCCCGGAA ACGTGCCCCGGAA - rs143089233 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 ACGTGCCCCGGAA ACGTGCCCCGGAA - - ACGTGCCCCGGAA ACGTGCCCCGGAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:94482692_94482704delACGTGCCCCGGAA uc001vlt.2 + 3 1237_1249 c.605_617delACGTGCCCCGGAA c.(604-618)GACGTGCCCCGGAAAfs p.D202fs GPC6_uc010tig.1_Frame_Shift_Del_p.D202fs|GPC6_uc001vlu.1_Frame_Shift_Del_p.D132fs NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 202_206 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CCATTTGGAGACGTGCCCCGGAAACTGAAGATT 0.502 NA 9 50 --- --- --- --- NA NA NA NA NA SYT16 83851 broad.mit.edu 37 14 62567160 62567160 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:62567160delC uc001xfu.1 + 6 1870 c.1673delC c.(1672-1674)TCCfs p.S558fs SYT16_uc010tse.1_Frame_Shift_Del_p.S116fs NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 558 C2 2. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CAAGAGATGTCCCGTTGCAAG 0.463 NA 32 27 --- --- --- --- NA NA NA NA NA PALB2 79728 broad.mit.edu 37 16 23637683 23637683 + Frame_Shift_Del DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:23637683delG uc002dlx.1 - 7 2822 c.2622delC c.(2620-2622)GCCfs p.A874fs NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 874 Interaction with RAD51 and BRCA2.|WD 1. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) CCCAAAACATGGCACTCACAT 0.443 NA F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 22 169 --- --- --- --- NA NA NA NA NA MYH1 4619 broad.mit.edu 37 17 10402323 10402323 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:10402323delC uc002gmo.2 - 29 4046 c.3952delG c.(3952-3954)GAAfs p.E1318fs uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1318 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CTTTTCAGTTCCTCAATCTGT 0.393 NA 26 85 --- --- --- --- NA NA NA NA NA RNMT 8731 broad.mit.edu 37 18 13731472 13731484 + Splice_Site DEL TAGTGTTGGTTCA TAGTGTTGGTTCA - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 TAGTGTTGGTTCA TAGTGTTGGTTCA - - TAGTGTTGGTTCA TAGTGTTGGTTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:13731472_13731484delTAGTGTTGGTTCA uc002ksk.1 + 2 26 c.-41_splice c.e2-1 RNMT_uc002ksl.1_Splice_Site|RNMT_uc002ksm.1_Splice_Site|RNMT_uc010dlk.2_Splice_Site|RNMT_uc010xae.1_Intron NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TTTCCTATTCTAGTGTTGGTTCATGAAGTTTTA 0.239 GBM(29;474 594 19092 36647 41529) NA 44 38 --- --- --- --- NA NA NA NA NA ADAMTS10 81794 broad.mit.edu 37 19 8656874 8656875 + Frame_Shift_Ins INS - - G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:8656874_8656875insG uc002mkj.1 - 14 1974_1975 c.1700_1701insC c.(1699-1701)GTGfs p.V567fs ADAMTS10_uc002mki.1_Frame_Shift_Ins_p.C58fs|ADAMTS10_uc002mkk.1_Frame_Shift_Ins_p.V199fs NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 567 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 TAGAAGAGGACACGCCGCCGCC 0.723 NA 13 14 --- --- --- --- NA NA NA NA NA ZNF100 163227 broad.mit.edu 37 19 21909726 21909726 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:21909726delC uc002nqi.2 - 5 1587 c.1388delG c.(1387-1389)GGCfs p.G463fs ZNF100_uc002nqh.2_Frame_Shift_Del_p.G399fs NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 463 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGGCTTTGCCACATTCGTC 0.403 NA 20 18 --- --- --- --- NA NA NA NA NA CD22 933 broad.mit.edu 37 19 35832490 35832499 + Frame_Shift_Del DEL CTGGACACTT CTGGACACTT - rs141451390 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 CTGGACACTT CTGGACACTT - - CTGGACACTT CTGGACACTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:35832490_35832499delCTGGACACTT uc010edt.2 + 8 1829_1838 c.1752_1761delCTGGACACTT c.(1750-1761)GCCTGGACACTTfs p.A584fs CD22_uc010xst.1_Frame_Shift_Del_p.A412fs|CD22_uc010edu.2_Frame_Shift_Del_p.A496fs|CD22_uc010edv.2_Frame_Shift_Del_p.A584fs|CD22_uc002nzb.3_Frame_Shift_Del_p.A407fs|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 584_587 Extracellular (Potential). 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) CGTCCAAGGCCTGGACACTTGAAGTGCTGT 0.59 Ovarian(42;1009 1133 23674 26041) NA 8 124 --- --- --- --- NA NA NA NA NA TANC1 85461 broad.mit.edu 37 2 160028721 160028721 + Frame_Shift_Del DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:160028721delG uc002uag.2 + 11 1715 c.1441delG c.(1441-1443)GGGfs p.G481fs TANC1_uc010fol.1_Frame_Shift_Del_p.G375fs|TANC1_uc010zcm.1_Frame_Shift_Del_p.G473fs|TANC1_uc010fom.1_Frame_Shift_Del_p.G287fs NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 481 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AACACCTCTTGGGTCTATCAG 0.453 NA 32 66 --- --- --- --- NA NA NA NA NA OSM 5008 broad.mit.edu 37 22 30660280 30660281 + Frame_Shift_Ins INS - - T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:30660280_30660281insT uc003ahb.2 - 3 402_403 c.350_351insA c.(349-351)CTCfs p.L117fs NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 117 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) GGGCCTTGGGGAGGCGCTGCTC 0.629 NA 19 25 --- --- --- --- NA NA NA NA NA VILL 50853 broad.mit.edu 37 3 38044020 38044022 + In_Frame_Del DEL TCT TCT - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 TCT TCT - - TCT TCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:38044020_38044022delTCT uc003chj.2 + 14 1899_1901 c.1613_1615delTCT c.(1612-1617)ATCTTC>ATC p.F539del VILL_uc003chl.2_In_Frame_Del_p.F539del NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 539 Gelsolin-like 5. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TCCAGTGACATCTTCTTGCTGGT 0.571 NA 20 79 --- --- --- --- NA NA NA NA NA SEMA3F 6405 broad.mit.edu 37 3 50225491 50225491 + Frame_Shift_Del DEL T T - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:50225491delT uc003cyj.2 + 19 2499 c.2301delT c.(2299-2301)CCTfs p.P767fs SEMA3F_uc003cyk.2_Frame_Shift_Del_p.P736fs NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 767 Arg/Lys-rich (basic). axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CCCGGTCTCCTGAGCCCCAGG 0.687 NA 2 4 --- --- --- --- NA NA NA NA NA SI 6476 broad.mit.edu 37 3 164758880 164758880 + Frame_Shift_Del DEL A A - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:164758880delA uc003fei.2 - 18 2069 c.2007delT c.(2005-2007)CATfs p.H669fs NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 669 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGGATCCTGATGCTGTGAGA 0.323 NA HNSCC(35;0.089) 23 71 --- --- --- --- NA NA NA NA NA MUC7 4589 broad.mit.edu 37 4 71347137 71347137 + Frame_Shift_Del DEL C C - rs144213977 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:71347137delC uc011cat.1 + 4 964 c.676delC c.(676-678)CCAfs p.P226fs MUC7_uc011cau.1_Frame_Shift_Del_p.P226fs|MUC7_uc003hfj.2_Frame_Shift_Del_p.P226fs|uc011cav.1_Intron NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 226 3.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ACCAGCTCCACCATCTTCCTC 0.582 NA 82 76 --- --- --- --- NA NA NA NA NA FAT4 79633 broad.mit.edu 37 4 126242180 126242181 + Frame_Shift_Ins INS - - CCATCAG TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:126242180_126242181insCCATCAG uc003ifj.3 + 1 4614_4615 c.4614_4615insCCATCAG c.(4612-4617)GACCCAfs p.D1538fs NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1538_1539 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTGCTGCAGACCCATCAGCTGT 0.436 NA 20 289 --- --- --- --- NA NA NA NA NA RAPGEF6 51735 broad.mit.edu 37 5 130799906 130799906 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:130799906delC uc003kvn.1 - 18 2514 c.2308delG c.(2308-2310)GACfs p.D770fs RAPGEF6_uc003kvp.1_Frame_Shift_Del_p.D820fs|RAPGEF6_uc003kvo.1_Frame_Shift_Del_p.D775fs|RAPGEF6_uc010jdi.1_Frame_Shift_Del_p.D770fs|RAPGEF6_uc010jdj.1_Frame_Shift_Del_p.D770fs|RAPGEF6_uc003kvq.2_Frame_Shift_Del_p.D487fs|RAPGEF6_uc003kvr.2_Frame_Shift_Del_p.D770fs|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Frame_Shift_Del_p.D770fs NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 770 Ras-associating. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GCTGTGGTGTCTTTACTGATG 0.353 Melanoma(168;435 1955 13113 13877 23213) NA 28 37 --- --- --- --- NA NA NA NA NA IL22RA2 116379 broad.mit.edu 37 6 137479601 137479602 + Frame_Shift_Ins INS - - C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:137479601_137479602insC uc003qhl.2 - 3 380_381 c.79_80insG c.(79-81)GAGfs p.E27fs IL22RA2_uc003qhm.2_Frame_Shift_Ins_p.E27fs|IL22RA2_uc003qhn.2_Frame_Shift_Ins_p.E27fs NM_052962 NP_443194 Q969J5 I22R2_HUMAN interleukin 22-binding protein isoform 1 27 Fibronectin type-III 1. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) CTTCAGAGACTCATGCGTTGAC 0.46 NA 30 112 --- --- --- --- NA NA NA NA NA ARPC1A 10552 broad.mit.edu 37 7 98963515 98963515 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:98963515delC uc003upx.1 + 10 1223 c.1076delC c.(1075-1077)ACCfs p.T359fs ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Frame_Shift_Del_p.T345fs|ARPC1A_uc011kit.1_Intron NM_006409 NP_006400 Q92747 ARC1A_HUMAN actin related protein 2/3 complex subunit 1A 359 WD 6. actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) TTTTCCAAGACCCTCGAGTCT 0.577 NA 2 4 --- --- --- --- NA NA NA NA NA LRGUK 136332 broad.mit.edu 37 7 133812369 133812370 + Frame_Shift_Ins INS - - T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:133812369_133812370insT uc003vrm.1 + 1 265_266 c.249_250insT c.(247-252)GGCGAGfs p.G83fs NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 83_84 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 AGGGCGAGGGCGAGGCGGGATC 0.614 NA 41 74 --- --- --- --- NA NA NA NA NA TMEM64 169200 broad.mit.edu 37 8 91643913 91643913 + Frame_Shift_Del DEL T T - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:91643913delT uc003yen.2 - 2 818 c.818delA c.(817-819)AACfs p.N273fs TMEM64_uc003yeo.2_Frame_Shift_Del_p.N12fs|TMEM64_uc011lgf.1_Intron NM_001008495 NP_001008495 Q6YI46 TMM64_HUMAN transmembrane protein 64 isoform 1 273 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(11;0.0598) CATCAGATAGTTGGGTAATGA 0.383 NA 9 192 --- --- --- --- NA NA NA NA NA NTRK2 4915 broad.mit.edu 37 9 87342645 87342645 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:87342645delC uc004aoa.1 + 11 1868 c.930delC c.(928-930)AACfs p.N310fs NTRK2_uc004anv.1_Frame_Shift_Del_p.N297fs|NTRK2_uc004any.1_Frame_Shift_Del_p.N310fs|NTRK2_uc004anz.1_Frame_Shift_Del_p.N310fs|NTRK2_uc011lsz.1_Frame_Shift_Del_p.N310fs|NTRK2_uc011lta.1_Frame_Shift_Del_p.N310fs|NTRK2_uc004aob.1_Frame_Shift_Del_p.N310fs|NTRK2_uc011ltb.1_Frame_Shift_Del_p.N154fs NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 310 Extracellular (Potential).|Ig-like C2-type 2. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TGAAAGGCAACCCCAAACCAG 0.423 NA TSP Lung(25;0.17) 12 42 --- --- --- --- NA NA NA NA NA C9orf125 84302 broad.mit.edu 37 9 104238293 104238293 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:104238293delC uc004bbm.2 - 2 1404 c.1082delG c.(1081-1083)GGCfs p.G361fs uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 361 integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) CATGTCCTTGCCAAAGCCCTT 0.612 NA 11 22 --- --- --- --- NA NA NA NA NA MAGEB2 4113 broad.mit.edu 37 X 30237448 30237448 + Frame_Shift_Del DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:30237448delG uc004dbz.2 + 2 854 c.751delG c.(751-753)GATfs p.D251fs NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 251 MAGE. protein binding ovary(1) 1 CATCACCAAAGATCTGGTGCA 0.507 NA 19 38 --- --- --- --- NA NA NA NA NA KDM5C 8242 broad.mit.edu 37 X 53245063 53245063 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:53245063delC uc004drz.2 - 7 1410 c.877delG c.(877-879)GAGfs p.E293fs KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Del_p.E226fs|KDM5C_uc004dsa.2_Frame_Shift_Del_p.E292fs NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 293 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 TCCTTGCTCTCCAGGAAGGTC 0.572 NA N|F|S clear cell renal carcinoma 36 70 --- --- --- --- NA NA NA NA NA