Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut FAM131C 348487 broad.mit.edu 37 1 16385163 16385163 + Silent SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:16385163C>T uc001axz.3 - 7 802 c.612G>A c.(610-612)CAG>CAA p.Q204Q FAM131C_uc010obz.1_Intron NM_182623 NP_872429 Q96AQ9 F131C_HUMAN hypothetical protein LOC348487 204 0 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GGCTGTCATCCTGTGAGGGGC 0.652 NA 2 4 0 0 0 0 MATN1 4146 broad.mit.edu 37 1 31188840 31188840 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:31188840C>T uc001brz.2 - 5 1157 c.1123G>A c.(1123-1125)GGG>AGG p.G375R uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.G293R NM_002379 NP_002370 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein precursor 375 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1) 1 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TTCTGGGCCCCGGGCCTAGCC 0.552 NA 11 73 0 0 0 0 MRPS15 64960 broad.mit.edu 37 1 36929441 36929441 + Silent SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:36929441G>C uc001cas.2 - 2 305 c.141C>G c.(139-141)CTC>CTG p.L47L NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 47 GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697). translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCGCGGCCTGGAGGAGGAGAC 0.607 NA 6 36 0 0 0 0 MTF1 4520 broad.mit.edu 37 1 38305745 38305745 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:38305745C>T uc001cce.1 - 3 635 c.494G>A c.(493-495)CGA>CAA p.R165Q MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 165 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTACTCTCCTCGGTGAGTCTT 0.547 NA 11 50 0 0 0 0 AKNAD1 254268 broad.mit.edu 37 1 109391400 109391400 + Missense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:109391400G>C uc001dwa.2 - 5 1488 c.1219C>G c.(1219-1221)CCT>GCT p.P407A AKNAD1_uc010ovb.1_Missense_Mutation_p.P114A|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 407 Potential. ovary(3) 3 AAATGGTAAGGAGAGTCCTGT 0.313 NA 11 77 0 0 0 0 POGZ 23126 broad.mit.edu 37 1 151377602 151377602 + Silent SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:151377602G>C uc001eyd.1 - 19 4215 c.3909C>G c.(3907-3909)GTC>GTG p.V1303V POGZ_uc001eye.1_Silent_p.V1250V|POGZ_uc010pdb.1_Silent_p.V1294V|POGZ_uc001eyf.1_Silent_p.V1259V|POGZ_uc010pdc.1_Silent_p.V1241V|POGZ_uc009wmv.1_Silent_p.V1208V|POGZ_uc010pdd.1_Silent_p.V794V NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1303 DDE. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CACCCAGCCAGACAAGCACCA 0.517 NA 27 85 0 0 0 0 NES 10763 broad.mit.edu 37 1 156642028 156642028 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:156642028G>A uc001fpq.2 - 4 2085 c.1952C>T c.(1951-1953)ACG>ATG p.T651M NM_006617 NP_006608 P48681 NEST_HUMAN nestin 651 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTGATTTTCCGTTCCTGGAAA 0.398 NA 10 38 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157665837 157665837 + Silent SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:157665837G>T uc001frb.2 - 7 1417 c.1125C>A c.(1123-1125)ACC>ACA p.T375T FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.T375T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.T101T|FCRL3_uc001frc.1_Silent_p.T375T NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 375 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TACTTCTCACGGTGACTCGAA 0.522 NA 6 30 2.01e-06 2.15e-06 1 0 FMO4 2329 broad.mit.edu 37 1 171303659 171303659 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:171303659G>A uc001gho.2 + 8 1154 c.937G>A c.(937-939)GAA>AAA p.E313K NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 313 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGCTGTCTTTGAAGATGGGAC 0.378 NA 11 50 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197111547 197111547 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:197111547G>A uc001gtu.2 - 3 2092 c.1835C>T c.(1834-1836)TCA>TTA p.S612L ASPM_uc001gtv.2_Missense_Mutation_p.S612L|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 612 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTTAACAGCTGATGTTTTAGG 0.368 NA 33 127 0 0 0 0 PLXNA2 5362 broad.mit.edu 37 1 208202360 208202360 + Silent SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:208202360C>A uc001hgz.2 - 30 6011 c.5253G>T c.(5251-5253)GTG>GTT p.V1751V PLXNA2_uc001hgy.2_Silent_p.V21V NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1751 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGTTCTTAATCACGTTCACCC 0.562 NA 14 34 2e-07 2.17e-07 1 0 RYR2 6262 broad.mit.edu 37 1 237780641 237780641 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:237780641C>T uc001hyl.1 + 38 5891 c.5771C>T c.(5770-5772)GCC>GTC p.A1924V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1924 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGGATAGAAGCCATTGTAGCC 0.433 NA 6 22 0 0 0 0 OR2L8 391190 broad.mit.edu 37 1 248112339 248112339 + Silent SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:248112339C>T uc001idt.1 + 1 180 c.180C>T c.(178-180)TTC>TTT p.F60F OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(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) CCATGTATTTCCTACTGAGTC 0.413 NA 7 329 0 0 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316132 30316132 + Nonsense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr10:30316132G>C uc001iux.2 - 2 3004 c.2945C>G c.(2944-2946)TCA>TGA p.S982* KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.S844*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.S982* NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 982 ovary(4) 4 TGCGTCACTTGATCTTGAAGA 0.527 NA 29 91 0 0 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316271 30316271 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr10:30316271G>A uc001iux.2 - 2 2865 c.2806C>T c.(2806-2808)CGC>TGC p.R936C KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R798C|KIAA1462_uc009xle.1_Missense_Mutation_p.R936C NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 936 ovary(4) 4 TCTTCCACGCGAAAGCGGCCC 0.607 NA 12 44 0 0 0 0 OGDHL 55753 broad.mit.edu 37 10 50952744 50952744 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr10:50952744C>T uc001jie.2 - 13 1826 c.1684G>A c.(1684-1686)GAT>AAT p.D562N OGDHL_uc009xog.2_Missense_Mutation_p.D589N|OGDHL_uc010qgt.1_Missense_Mutation_p.D505N|OGDHL_uc010qgu.1_Missense_Mutation_p.D353N|OGDHL_uc009xoh.2_Missense_Mutation_p.D353N NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 562 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 ATCTTTTTATCCTTGGACCTG 0.537 NA 15 44 0 0 0 0 ANK3 288 broad.mit.edu 37 10 61834987 61834987 + Silent SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr10:61834987G>T uc001jky.2 - 37 5844 c.5652C>A c.(5650-5652)CCC>CCA p.P1884P ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1884 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TAAGGGCAGAGGGTGCAAGGA 0.443 NA 7 56 1.13e-05 1.19e-05 1 0 PAPSS2 9060 broad.mit.edu 37 10 89474820 89474820 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr10:89474820G>A uc001kex.2 + 6 981 c.718G>A c.(718-720)GAG>AAG p.E240K PAPSS2_uc001kew.2_Missense_Mutation_p.E240K|PAPSS2_uc009xtg.1_RNA NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 240 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CGTCCGAGCTGAGGCTGAAAC 0.363 NA 15 26 0 0 0 0 PSD 5662 broad.mit.edu 37 10 104164418 104164418 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr10:104164418G>A uc001kvg.1 - 15 3149 c.2622C>T c.(2620-2622)CCC>CCT p.P874P PSD_uc001kve.1_Silent_p.P82P|PSD_uc001kvf.1_Silent_p.P243P|PSD_uc001kvh.1_Silent_p.P495P|PSD_uc009xxd.1_Silent_p.P874P NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 874 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CTGGGAAGGGGGGCGCAGAGA 0.617 NA 35 99 0 0 0 0 SCGB1C1 147199 broad.mit.edu 37 11 193783 193783 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:193783G>A uc001loa.1 + 2 147 c.127G>A c.(127-129)GAG>AAG p.E43K ODF3_uc001lob.2_5'Flank|ODF3_uc010qvk.1_5'Flank NM_145651 NP_663626 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 precursor 43 extracellular region binding skin(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GGGGACCCCAGAGGAGCTCTA 0.532 NA 5 50 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30033675 30033675 + Missense_Mutation SNP C C G TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:30033675C>G uc001msk.2 - 2 1703 c.551G>C c.(550-552)GGC>GCC p.G184A NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 184 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAAGCGTAGGCCTGACACATT 0.512 NA 10 47 0 0 0 0 C11orf68 83638 broad.mit.edu 37 11 65685181 65685181 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:65685181G>A uc001ogi.2 - 2 660 c.631C>T c.(631-633)CGC>TGC p.R211C C11orf68_uc009yqv.2_Missense_Mutation_p.R210C|DRAP1_uc001ogj.1_5'Flank NM_001135635 NP_001129107 Q9H3H3 CK068_HUMAN basophilic leukemia expressed protein BLES03 169 0 READ - Rectum adenocarcinoma(159;0.166) ATGACCTGGCGCCCACCCTCC 0.637 NA 8 30 0 0 0 0 GRIA4 2893 broad.mit.edu 37 11 105797542 105797542 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:105797542C>A uc001pix.2 + 13 2369 c.1923C>A c.(1921-1923)AAC>AAA p.N641K GRIA4_uc001piw.2_Missense_Mutation_p.N641K NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 641 Helical; (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATACTGCTAACCTCGCTGCTT 0.393 NA 8 42 1.59e-06 1.71e-06 1 0 RNF214 257160 broad.mit.edu 37 11 117152363 117152363 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:117152363G>A uc001pqt.2 + 10 1329 c.1284G>A c.(1282-1284)CTG>CTA p.L428L RNF214_uc001pqu.2_Silent_p.L428L|RNF214_uc010rxf.1_Silent_p.L273L NM_207343 NP_997226 Q8ND24 RN214_HUMAN ring finger protein 214 428 zinc ion binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) GAGCCAAGCTGAGCAGCCTTC 0.453 NA 25 125 0 0 0 0 VPS11 55823 broad.mit.edu 37 11 118948900 118948900 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:118948900C>A uc010ryx.1 + 12 1821 c.1779C>A c.(1777-1779)TTC>TTA p.F593L VPS11_uc010ryy.1_Missense_Mutation_p.F439L NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 593 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CTGAGGAGTTCATCCCCATCT 0.532 NA 32 134 4.32e-10 4.83e-10 1 0 TECTA 7007 broad.mit.edu 37 11 121000377 121000377 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:121000377T>C uc010rzo.1 + 9 2398 c.2398T>C c.(2398-2400)TTC>CTC p.F800L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 800 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATTGCCTTTTTTCCATCCTTC 0.438 NA 25 69 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715902 13715902 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr12:13715902G>A uc001rbt.2 - 13 4449 c.4270C>T c.(4270-4272)CTT>TTT p.L1424F NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1424 Cytoplasmic (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) TTGGTGACAAGGGCCCGGAAG 0.622 NA 13 27 0 0 0 0 DDX11 1663 broad.mit.edu 37 12 31242845 31242845 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr12:31242845G>A uc001rjt.1 + 9 1157 c.906G>A c.(904-906)GAG>GAA p.E302E DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.E302E|DDX11_uc001rjs.1_Silent_p.E302E|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.E302E|DDX11_uc001rjw.1_Silent_p.E276E|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 302 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTGAGGAGGAGAAGCCAAAGA 0.587 NA Multiple Myeloma(12;0.14) 6 8 0 0 0 0 FMNL3 91010 broad.mit.edu 37 12 50043581 50043581 + Missense_Mutation SNP C C G TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr12:50043581C>G uc001ruv.1 - 18 2362 c.2128G>C c.(2128-2130)GAG>CAG p.E710Q FMNL3_uc001ruw.1_Missense_Mutation_p.E659Q|FMNL3_uc001rut.1_Missense_Mutation_p.E276Q|FMNL3_uc001ruu.1_Missense_Mutation_p.E560Q NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 710 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 AAGCGGTCCTCAGCTGCCAAC 0.602 NA 18 63 0 0 0 0 PLXNC1 10154 broad.mit.edu 37 12 94641745 94641745 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr12:94641745C>T uc001tdc.2 + 13 2704 c.2455C>T c.(2455-2457)CGC>TGC p.R819C NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 819 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TTCAAAAGTGCGCACGAATGT 0.463 NA 17 62 0 0 0 0 C12orf42 374470 broad.mit.edu 37 12 103795437 103795437 + Missense_Mutation SNP A A C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr12:103795437A>C uc001tjt.2 - 3 183 c.95T>G c.(94-96)ATT>AGT p.I32S C12orf42_uc001tjs.2_RNA|C12orf42_uc009zuf.1_Missense_Mutation_p.I32S|C12orf42_uc001tju.2_5'UTR NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 32 ovary(1)|central_nervous_system(1) 2 CACAATGGGAATATAGCAAGG 0.443 NA 7 18 0 0 0 0 MYO1H 283446 broad.mit.edu 37 12 109845600 109845600 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr12:109845600T>C uc010sxn.1 + 9 989 c.989T>C c.(988-990)GTG>GCG p.V330A NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 TCTTTTCAGGTGATCTGCCCG 0.373 NA 8 31 0 0 0 0 GCN1L1 10985 broad.mit.edu 37 12 120588998 120588998 + Silent SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr12:120588998C>A uc001txo.2 - 34 4273 c.4260G>T c.(4258-4260)GCG>GCT p.A1420A NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1420 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGTCAGTGCCGCCATCATCT 0.612 NA 11 62 0.000978159 0.00100505 1 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465689 24465689 + Silent SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr13:24465689C>A uc010tcw.1 - 3 741 c.741G>T c.(739-741)GGG>GGT p.G247G MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Intron|PCOTH_uc009zzx.2_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.G247G NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 247 C1q. collagen 0 AGTAATAGACCCCAGCAATGT 0.408 NA 17 105 2.23e-06 2.39e-06 1 0 RXFP2 122042 broad.mit.edu 37 13 32367045 32367045 + Missense_Mutation SNP C C T rs142857153 byFrequency TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr13:32367045C>T uc001utt.2 + 16 1677 c.1606C>T c.(1606-1608)CGG>TGG p.R536W RXFP2_uc010aba.2_Missense_Mutation_p.R495W NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 536 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ACCTGGAAAACGGCAGACCTC 0.428 NA 7 31 0 0 0 0 SLC15A1 6564 broad.mit.edu 37 13 99376168 99376168 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr13:99376168G>A uc001vno.2 - 5 440 c.363C>T c.(361-363)CAC>CAT p.H121H SLC15A1_uc001vnp.1_Silent_p.H89H NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 121 Helical; (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CAACTCACACGTGCACAGGAA 0.512 NA 7 35 0 0 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21788328 21788328 + Missense_Mutation SNP C C G TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr14:21788328C>G uc001wag.2 + 11 1459 c.1459C>G c.(1459-1461)CAG>GAG p.Q487E RPGRIP1_uc001wah.2_Missense_Mutation_p.Q129E|RPGRIP1_uc001wai.2_Missense_Mutation_p.Q129E|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.2_5'Flank|RPGRIP1_uc010aim.2_5'Flank|RPGRIP1_uc001wal.2_5'Flank NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 487 Potential. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGAGAACACTCAGATCGAGGT 0.448 NA 3 20 0 0 0 0 SERPINA1 5265 broad.mit.edu 37 14 94847230 94847230 + Missense_Mutation SNP A A C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr14:94847230A>C uc001ycx.3 - 3 1156 c.895T>G c.(895-897)TTC>GTC p.F299V SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.F299V|SERPINA1_uc010aux.2_Missense_Mutation_p.F299V|SERPINA1_uc001ycy.3_Missense_Mutation_p.F299V|SERPINA1_uc010auy.2_Missense_Mutation_p.F299V|SERPINA1_uc001ycz.3_Missense_Mutation_p.F299V|SERPINA1_uc010auz.2_Missense_Mutation_p.F299V|SERPINA1_uc010ava.2_Missense_Mutation_p.F299V|SERPINA1_uc001ydb.3_Missense_Mutation_p.F299V|SERPINA1_uc010avb.2_Missense_Mutation_p.F299V|SERPINA1_uc001ydc.3_Missense_Mutation_p.F299V|SERPINA1_uc001yda.1_Missense_Mutation_p.F299V NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 299 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TTTTCCAGGAACTTGGTGATG 0.517 NA Alpha-1-Antitrypsin_Deficiency 10 70 0 0 0 0 CLMN 79789 broad.mit.edu 37 14 95658065 95658065 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr14:95658065C>T uc001yef.2 - 13 2961 c.2845G>A c.(2845-2847)GCC>ACC p.A949T NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 949 integral to membrane actin binding 0 Epithelial(152;0.193) GAGCTGTTGGCCTTCCTACAG 0.567 NA 9 39 0 0 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22861874 22861874 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr15:22861874G>A uc001yur.3 + 14 2024 c.1894G>A c.(1894-1896)GCT>ACT p.A632T TUBGCP5_uc001yuq.2_Missense_Mutation_p.A632T|TUBGCP5_uc010axz.1_Missense_Mutation_p.A219T NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 632 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GCAGTCCATTGCTGAAAGCCA 0.458 NA 11 70 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 34115205 34115205 + Silent SNP A A G TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr15:34115205A>G uc001zhi.2 + 81 11074 c.11004A>G c.(11002-11004)CTA>CTG p.L3668L RYR3_uc010bar.2_Silent_p.L3663L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3668 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) AGAAAATGCTAGATTACCTAA 0.433 NA 5 34 0 0 0 0 CEP152 22995 broad.mit.edu 37 15 49052415 49052415 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr15:49052415G>A uc001zwy.2 - 19 2645 c.2611C>T c.(2611-2613)CCA>TCA p.P871S CEP152_uc001zwz.2_Missense_Mutation_p.P871S|CEP152_uc001zxa.1_Missense_Mutation_p.P778S NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 871 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GCCAGCTCTGGTAGTTCTCCC 0.428 NA 17 66 0 0 0 0 RNF111 54778 broad.mit.edu 37 15 59350644 59350644 + Nonsense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr15:59350644C>T uc002afv.2 + 5 1540 c.1261C>T c.(1261-1263)CAG>TAG p.Q421* RNF111_uc002afs.2_Nonsense_Mutation_p.Q421*|RNF111_uc002aft.2_Nonsense_Mutation_p.Q421*|RNF111_uc002afu.2_Nonsense_Mutation_p.Q421*|RNF111_uc002afw.2_Nonsense_Mutation_p.Q421* NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 421 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) TACCTCTGAGCAGGCCTCTGA 0.443 NA 19 207 0 0 0 0 IGDCC4 57722 broad.mit.edu 37 15 65693167 65693167 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr15:65693167G>A uc002aou.1 - 5 1028 c.818C>T c.(817-819)CCT>CTT p.P273L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 273 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GGACACAAAAGGGGTGGGGTC 0.612 NA OREG0023196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 71 0 0 0 0 CHD2 1106 broad.mit.edu 37 15 93547934 93547934 + Missense_Mutation SNP A A T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr15:93547934A>T uc002bsp.2 + 34 4941 c.4366A>T c.(4366-4368)ATT>TTT p.I1456F CHD2_uc002bso.1_Missense_Mutation_p.I1456F NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1456 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ACCTGTCCCCATTGGAGAGGA 0.478 NA 11 71 0 0 0 0 RGMA 56963 broad.mit.edu 37 15 93595681 93595681 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr15:93595681C>A uc002bss.1 - 3 459 c.187G>T c.(187-189)GGC>TGC p.G63C RGMA_uc002bsq.1_Missense_Mutation_p.G47C|RGMA_uc010boi.1_5'UTR|RGMA_uc002bsr.1_5'UTR|RGMA_uc010urc.1_Missense_Mutation_p.G71C NM_020211 NP_064596 Q96B86 RGMA_HUMAN RGM domain family, member A precursor 63 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane 0 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GCGTGGCTGCCCGACGTGGCG 0.672 NA 3 15 0.00909568 0.00921901 1 0 TNRC6A 27327 broad.mit.edu 37 16 24829935 24829935 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr16:24829935C>T uc002dmm.2 + 21 5108 c.4994C>T c.(4993-4995)ACC>ATC p.T1665I TNRC6A_uc010bxs.2_Missense_Mutation_p.T1412I|TNRC6A_uc002dmn.2_Missense_Mutation_p.T1363I|TNRC6A_uc002dmo.2_Missense_Mutation_p.T1304I NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1665 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TCCTTGAACACCACGCTGCCT 0.532 NA 3 31 0 0 0 0 ATP2A1 487 broad.mit.edu 37 16 28906272 28906272 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr16:28906272T>C uc002dro.1 + 12 1601 c.1417T>C c.(1417-1419)TCG>CCG p.S473P uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.S473P|ATP2A1_uc002drp.1_Missense_Mutation_p.S348P NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 473 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGCCTGCAACTCGGTGAGCCT 0.602 NA 4 21 0 0 0 0 CCDC135 84229 broad.mit.edu 37 16 57762377 57762377 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr16:57762377C>A uc002emi.2 + 16 2361 c.2272C>A c.(2272-2274)CTC>ATC p.L758I CCDC135_uc002emj.2_Missense_Mutation_p.L758I|CCDC135_uc002emk.2_Missense_Mutation_p.L693I NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 758 cytoplasm central_nervous_system(1) 1 CCTGGCCCAGCTCCCGCCAGG 0.602 NA 13 72 2.27e-07 2.46e-07 1 0 SDR42E1 93517 broad.mit.edu 37 16 82033306 82033306 + Missense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr16:82033306G>T uc002fgu.2 - 3 720 c.592C>A c.(592-594)CCC>ACC p.P198T NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 198 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 ACTATCCTGGGAAGGTGTCTT 0.562 NA 19 100 1.5e-11 1.69e-11 1 0 P2RX1 5023 broad.mit.edu 37 17 3802281 3802281 + Missense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:3802281G>C uc002fww.2 - 9 1354 c.913C>G c.(913-915)CGT>GGT p.R305G NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 305 Extracellular (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) AAGAGGTGACGGTAGTTGGTC 0.562 NA 20 80 0 0 0 0 GUCY2D 3000 broad.mit.edu 37 17 7907216 7907216 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:7907216G>A uc002gjt.2 + 3 842 c.768G>A c.(766-768)CAG>CAA p.Q256Q NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 256 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GCGAGGAGCAGCGCTACCTCC 0.692 NA 11 46 0 0 0 0 DHRS7B 25979 broad.mit.edu 37 17 21094308 21094308 + Missense_Mutation SNP C C G TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:21094308C>G uc002gyo.2 + 7 847 c.820C>G c.(820-822)CAG>GAG p.Q274E NM_015510 NP_056325 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 274 Peroxisomal (Potential). integral to membrane|peroxisomal membrane binding|oxidoreductase activity pancreas(1) 1 GGAGGTGGCCCAGGATGTTCT 0.498 NA 17 90 0 0 0 0 NF1 4763 broad.mit.edu 37 17 29683523 29683523 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:29683523C>T uc002hgg.2 + 52 7994 c.7661C>T c.(7660-7662)CCT>CTT p.P2554L NF1_uc002hgh.2_Missense_Mutation_p.P2533L|NF1_uc010cso.2_Missense_Mutation_p.P742L|NF1_uc010wbt.1_Missense_Mutation_p.P32L|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2554 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACAAAGGCTCCTAAAAGGCAA 0.358 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 9 49 0 0 0 0 ACACA 31 broad.mit.edu 37 17 35631097 35631097 + Missense_Mutation SNP T T A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:35631097T>A uc002hnm.2 - 9 1075 c.884A>T c.(883-885)GAT>GTT p.D295V ACACA_uc002hnk.2_Missense_Mutation_p.D217V|ACACA_uc002hnl.2_Missense_Mutation_p.D237V|ACACA_uc002hnn.2_Missense_Mutation_p.D295V|ACACA_uc002hno.2_Missense_Mutation_p.D332V|ACACA_uc010cuz.2_Missense_Mutation_p.D295V|ACACA_uc002hnq.2_Missense_Mutation_p.D217V NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 295 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TAGCCCATCATCCACATCTTT 0.433 NA 15 58 0 0 0 0 AOC2 314 broad.mit.edu 37 17 40997732 40997732 + Silent SNP A A T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:40997732A>T uc002ibu.2 + 1 1124 c.1089A>T c.(1087-1089)GTA>GTT p.V363V AOC2_uc002ibt.2_Silent_p.V363V NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 363 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) AGGAGTGTGTATCTATCTATG 0.532 NA 28 105 0 0 0 0 TBX2 6909 broad.mit.edu 37 17 59477583 59477583 + Missense_Mutation SNP T T A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:59477583T>A uc010wox.1 + 1 327 c.46T>A c.(46-48)TTC>ATC p.F16I TBX2_uc002ize.2_Missense_Mutation_p.F6I|TBX2_uc002izg.2_5'UTR NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 16 cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 TTACCACCCGTTCCACGCGCC 0.567 NA 4 18 0 0 0 0 MRC2 9902 broad.mit.edu 37 17 60744755 60744755 + Missense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr17:60744755G>C uc002jad.2 + 6 1380 c.978G>C c.(976-978)CAG>CAC p.Q326H MRC2_uc002jac.2_Missense_Mutation_p.Q326H NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 326 Extracellular (Potential).|C-type lectin 1. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCACAGACCAGCCGGACAACC 0.667 NA 5 30 0 0 0 0 MYOM1 8736 broad.mit.edu 37 18 3102583 3102583 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr18:3102583G>A uc002klp.2 - 23 3798 c.3464C>T c.(3463-3465)TCA>TTA p.S1155L MYOM1_uc002klq.2_Missense_Mutation_p.S1059L NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1155 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GAAGTTCAATGAAATGACTCC 0.428 NA 22 81 0 0 0 0 SPIRE1 56907 broad.mit.edu 37 18 12454464 12454464 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr18:12454464C>T uc002kre.2 - 13 1704 c.1657G>A c.(1657-1659)GTG>ATG p.V553M SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.V419M|SPIRE1_uc010wzx.1_Missense_Mutation_p.V342M|SPIRE1_uc010wzy.1_Missense_Mutation_p.V539M NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 553 cytoskeleton|perinuclear region of cytoplasm actin binding 0 AGGCATTCCACTGGGTAGCAG 0.453 NA 4 103 0 0 0 0 DSG2 1829 broad.mit.edu 37 18 29104786 29104786 + Nonsense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr18:29104786G>T uc002kwu.3 + 8 1137 c.949G>T c.(949-951)GAA>TAA p.E317* NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 317 Extracellular (Potential).|Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) ATCAGGAAATGAAGGAGGTTA 0.378 NA 12 25 1.09e-07 1.19e-07 1 0 MIDN 90007 broad.mit.edu 37 19 1257108 1257108 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:1257108C>T uc002lrp.2 + 8 1759 c.1244C>T c.(1243-1245)CCG>CTG p.P415L NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 415 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GCGCGGGGTCCGTACCACTGG 0.706 NA 4 28 0 0 0 0 KHSRP 8570 broad.mit.edu 37 19 6416646 6416646 + Missense_Mutation SNP T T A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:6416646T>A uc002mer.3 - 14 1453 c.1343A>T c.(1342-1344)AAA>ATA p.K448I NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 448 Gly-rich.|KH 4. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 GTTTATGGCTTTCACATTCTC 0.602 NA 4 27 0 0 0 0 KHSRP 8570 broad.mit.edu 37 19 6416663 6416663 + Splice_Site SNP T T A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:6416663T>A uc002mer.3 - 14 1438 c.1328_splice c.e14-1 p.G443_splice NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 TCTCGCCACCTGCAGAAACGC 0.602 NA 7 30 0 0 0 0 AKAP8 10270 broad.mit.edu 37 19 15484099 15484099 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:15484099C>T uc002nav.2 - 5 485 c.424G>A c.(424-426)GAG>AAG p.E142K AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 142 signal transduction nuclear matrix ovary(1)|breast(1) 2 GGGTTGTGCTCCGGCAGGCAG 0.627 NA 4 23 0 0 0 0 ZNF98 148198 broad.mit.edu 37 19 22575526 22575526 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:22575526T>C uc002nqt.2 - 4 633 c.511A>G c.(511-513)AGA>GGA p.R171G NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ATCTTATGTCTGTTTGAATTT 0.299 NA 4 17 0 0 0 0 NLRP9 338321 broad.mit.edu 37 19 56235505 56235505 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:56235505G>A uc002qly.2 - 4 2028 c.2000C>T c.(1999-2001)ACT>ATT p.T667I NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 667 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GTACACAGAAGTAAATCTGCA 0.423 NA 4 25 0 0 0 0 NLRP9 338321 broad.mit.edu 37 19 56244753 56244753 + Silent SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:56244753C>T uc002qly.2 - 2 472 c.444G>A c.(442-444)GTG>GTA p.V148V NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 148 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTTCCAGGACCACAGTGTGTC 0.433 NA 7 51 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57642147 57642147 + Missense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr19:57642147G>C uc002qny.2 + 4 2460 c.2104G>C c.(2104-2106)GAG>CAG p.E702Q NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 702 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TACATTCGTAGAGTTCAATTT 0.443 NA 15 40 0 0 0 0 CRIM1 51232 broad.mit.edu 37 2 36691747 36691747 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:36691747C>T uc002rpd.2 + 5 979 c.940C>T c.(940-942)CGT>TGT p.R314C NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 314 Extracellular (Potential).|Cell attachment site (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CATAGTCTCTCGTGGCGATGG 0.498 NA 30 109 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530211 80530211 + Missense_Mutation SNP A A T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:80530211A>T uc002sok.1 - 2 1004 c.734T>A c.(733-735)GTG>GAG p.V245E CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 245 LRR 7.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CACAATGGCCACCTTGTTCCT 0.587 NA HNSCC(69;0.2) 18 58 0 0 0 0 CNGA3 1261 broad.mit.edu 37 2 99013277 99013277 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:99013277G>A uc002syt.2 + 8 2061 c.1644G>A c.(1642-1644)GGG>GGA p.G548G CNGA3_uc002syu.2_Silent_p.G530G|CNGA3_uc010fij.2_Silent_p.G552G NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 548 cGMP. G -> R (in ACHM2). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GCTACTTCGGGGAGATCAGCA 0.572 NA 28 87 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166856255 166856255 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:166856255T>C uc010zcz.1 - 22 4301 c.4283A>G c.(4282-4284)TAT>TGT p.Y1428C SCN1A_uc002udo.3_Missense_Mutation_p.Y1308C|SCN1A_uc010fpk.2_Missense_Mutation_p.Y1280C NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1439 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AACTGCTGCATACATTATATC 0.303 NA 19 58 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210559592 210559592 + Missense_Mutation SNP A A C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:210559592A>C uc002vde.1 + 7 2946 c.2698A>C c.(2698-2700)ACT>CCT p.T900P MAP2_uc002vdc.1_Missense_Mutation_p.T900P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T896P NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 900 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) TTACGAAGGCACTGATGATAA 0.453 NA 11 53 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211464248 211464248 + Missense_Mutation SNP A A T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:211464248A>T uc002vee.3 + 14 1644 c.1512A>T c.(1510-1512)TTA>TTT p.L504F CPS1_uc010fur.2_Missense_Mutation_p.L510F|CPS1_uc010fus.2_Missense_Mutation_p.L53F NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 504 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAGATGGGTTAATTCTGGGCA 0.453 NA 18 54 0 0 0 0 ALPP 250 broad.mit.edu 37 2 233243766 233243766 + Silent SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:233243766C>T uc002vsq.2 + 2 327 c.162C>T c.(160-162)GCC>GCT p.A54A ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 54 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CACAGACAGCCGCCAAGAACC 0.667 NA 22 85 0 0 0 0 AGAP1 116987 broad.mit.edu 37 2 237032610 237032611 + Missense_Mutation DNP GG GG TA TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:237032610_237032611GG>TA uc002vvs.2 + 18 3013_3014 c.2418_2419GG>TA c.(2416-2421)CTGGCC>CTTACC p.A807T AGAP1_uc002vvt.2_Missense_Mutation_p.A754T NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 807 ANK 2. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 ACACAGCTCTGGCCTACGCCCG 0.644 NA 13 40 0 0 0 0 OR6B3 150681 broad.mit.edu 37 2 240984616 240984616 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:240984616G>A uc010zoe.1 - 1 874 c.874C>T c.(874-876)CTG>TTG p.L292L PRR21_uc010zod.1_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TTATTCCTCAGGCAGTATATC 0.493 NA 25 121 0 0 0 0 RBCK1 10616 broad.mit.edu 37 20 402811 402811 + Nonsense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr20:402811G>T uc002wdp.3 + 8 1651 c.958G>T c.(958-960)GAG>TAG p.E320* RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Nonsense_Mutation_p.E278*|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Nonsense_Mutation_p.E150* NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 320 RING-type. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CCAGGAGGCGGAGGTCTCCTG 0.612 NA 20 72 3.52e-12 3.98e-12 1 0 PLCG1 5335 broad.mit.edu 37 20 39793623 39793623 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr20:39793623G>A uc002xjp.1 + 13 1389 c.1268G>A c.(1267-1269)AGA>AAA p.R423K PLCG1_uc002xjo.1_Missense_Mutation_p.R423K|PLCG1_uc010zwe.1_Missense_Mutation_p.R49K|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 423 PI-PLC X-box. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GCCCAGCAGAGAAACATGGCC 0.567 NA 8 33 0 0 0 0 CHRNA4 1137 broad.mit.edu 37 20 61978195 61978195 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr20:61978195G>A uc002yes.2 - 6 1957 c.1779C>T c.(1777-1779)TAC>TAT p.Y593Y CHRNA4_uc002yet.1_Silent_p.Y417Y|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.Y522Y|CHRNA4_uc002yev.1_Silent_p.Y417Y|CHRNA4_uc010gkf.1_Silent_p.Y417Y NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 593 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CCATGGCCACGTACTTCCAGT 0.682 NA 3 44 0 0 0 0 SFRS15 57466 broad.mit.edu 37 21 33063182 33063182 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr21:33063182C>T uc002ypd.2 - 15 2239 c.1813G>A c.(1813-1815)GAC>AAC p.D605N SFRS15_uc002ype.2_Missense_Mutation_p.D605N|SFRS15_uc010glu.2_Missense_Mutation_p.D590N|SFRS15_uc002ypf.1_Missense_Mutation_p.D279N NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 605 WDK -> CDN (in Ref. 1; AAD09327). nucleus nucleotide binding|RNA binding 0 TTGACTTTGTCCCATGGAATA 0.393 NA 21 76 0 0 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887573 30887573 + Silent SNP G G A rs141872549 TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr22:30887573G>A uc003aid.2 - 11 1168 c.1068C>T c.(1066-1068)CTC>CTT p.L356L SEC14L4_uc011akz.1_Silent_p.L356L|SEC14L4_uc003aie.2_Silent_p.L341L|SEC14L4_uc003aif.2_Silent_p.L302L NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 356 GOLD. integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) CGCCAGCCTGGAGGCAGGTGA 0.617 NA 8 76 0 0 0 0 SREBF2 6721 broad.mit.edu 37 22 42266924 42266924 + Missense_Mutation SNP A A T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr22:42266924A>T uc003bbi.2 + 4 921 c.752A>T c.(751-753)GAT>GTT p.D251V WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 251 Interaction with LMNA (By similarity).|Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 ATCAAGACAGATTCCCTTGTT 0.502 NA 23 95 0 0 0 0 TNFRSF13C 115650 broad.mit.edu 37 22 42322147 42322147 + Missense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr22:42322147G>C uc003bbl.2 - 2 369 c.325C>G c.(325-327)CGC>GGC p.R109G WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.R110G NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 109 Cytoplasmic (Potential). integral to membrane receptor activity 0 GACGCGCCGCGAAGCCGCCGC 0.602 NA 5 23 0 0 0 0 TNFRSF13C 115650 broad.mit.edu 37 22 42322238 42322238 + Silent SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr22:42322238G>C uc003bbl.2 - 2 278 c.234C>G c.(232-234)CTC>CTG p.L78L WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.L79L NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 78 Extracellular (Potential). integral to membrane receptor activity 0 GGGCGCCAAAGAGCAGCCCGG 0.662 NA 3 6 0 0 0 0 EFCAB6 64800 broad.mit.edu 37 22 44063042 44063042 + Missense_Mutation SNP C C T rs148107489 byFrequency TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr22:44063042C>T uc003bdy.1 - 17 2140 c.1925G>A c.(1924-1926)CGA>CAA p.R642Q EFCAB6_uc003bdz.1_Missense_Mutation_p.R490Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.R490Q|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 642 EF-hand 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) GTCAAGAAATCGTTTTTTGAA 0.403 NA 13 110 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30715717 30715717 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr3:30715717T>C uc003ceo.2 + 5 1757 c.1375T>C c.(1375-1377)TCT>CCT p.S459P TGFBR2_uc003cen.2_Missense_Mutation_p.S484P NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 459 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GGAAATGACATCTCGCTGTAA 0.463 NA 28 48 0 0 0 0 STAB1 23166 broad.mit.edu 37 3 52552020 52552020 + Splice_Site SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr3:52552020G>C uc003dej.2 + 45 4835 c.4761_splice c.e45+1 p.L1587_splice STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGTCGGCCTGGTAATGATGCC 0.612 NA 11 49 0 0 0 0 SEMA5B 54437 broad.mit.edu 37 3 122629868 122629868 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr3:122629868G>A uc003efz.1 - 22 3420 c.3116C>T c.(3115-3117)GCC>GTC p.A1039V SEMA5B_uc011bju.1_Missense_Mutation_p.A945V|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A1039V|SEMA5B_uc003efy.1_Missense_Mutation_p.A17V NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 1039 Helical; Signal-anchor for type III membrane protein; (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GATGCCCGTGGCCACCAAGTG 0.597 NA 5 21 0 0 0 0 A4GNT 51146 broad.mit.edu 37 3 137850095 137850095 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr3:137850095G>A uc003ers.2 - 2 206 c.4C>T c.(4-6)CGG>TGG p.R2W NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 2 Cytoplasmic (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AGCTCCTTCCGCATGTCCTCT 0.413 NA 6 26 0 0 0 0 CLSTN2 64084 broad.mit.edu 37 3 140185547 140185547 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr3:140185547G>A uc003etn.2 + 8 1508 c.1318G>A c.(1318-1320)GCG>ACG p.A440T CLSTN2_uc003etm.2_Missense_Mutation_p.A440T NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 440 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 CTTTCGCCCCGCGGAGTTCCA 0.572 NA HNSCC(16;0.037) 6 28 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr3:178928079G>A uc003fjk.2 + 8 1514 c.1357G>A c.(1357-1359)GAA>AAA p.E453K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATGGATTAGAAGATTTGCT 0.348 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 16 59 0 0 0 0 BOD1L 259282 broad.mit.edu 37 4 13602988 13602988 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:13602988C>A uc003gmz.1 - 10 5653 c.5536G>T c.(5536-5538)GCT>TCT p.A1846S BOD1L_uc010idr.1_Missense_Mutation_p.A1183S NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1846 DNA binding ovary(5)|breast(1) 6 CAAGGACCAGCAGCAACTAAT 0.473 NA 14 67 0.000219431 0.000229406 1 0 FRYL 285527 broad.mit.edu 37 4 48523208 48523208 + Nonsense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:48523208C>A uc003gyh.1 - 55 8151 c.7546G>T c.(7546-7548)GAA>TAA p.E2516* FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Nonsense_Mutation_p.E1212*|FRYL_uc003gyi.1_Nonsense_Mutation_p.E1404*|FRYL_uc003gyj.1_Nonsense_Mutation_p.E811* NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2516 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GGTATTGTTTCATCAGTGGCA 0.388 NA 12 45 1.58e-08 1.76e-08 1 0 CEP135 9662 broad.mit.edu 37 4 56823519 56823519 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:56823519G>A uc003hbi.2 + 5 837 c.603G>A c.(601-603)GTG>GTA p.V201V CEP135_uc003hbh.1_Silent_p.V201V|CEP135_uc010igz.1_Silent_p.V31V NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 201 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) TCCTTCAAGTGGCTGATAACA 0.348 NA 11 53 0 0 0 0 SULT1E1 6783 broad.mit.edu 37 4 70713465 70713465 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:70713465T>C uc003heo.2 - 6 655 c.542A>G c.(541-543)AAG>AGG p.K181R NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 181 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 ACTCTTTCCCTTTTCCCACCA 0.373 NA 3 63 0 0 0 0 HELQ 113510 broad.mit.edu 37 4 84348802 84348802 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:84348802C>T uc003hom.2 - 13 2769 c.2590G>A c.(2590-2592)GAA>AAA p.E864K HELQ_uc010ikb.2_Missense_Mutation_p.E797K|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 864 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 AGAAGGCTTTCAAGCACAAGT 0.368 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 10 47 0 0 0 0 FAM190A 401145 broad.mit.edu 37 4 91389411 91389411 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:91389411G>A uc003hsv.3 + 5 1970 c.1630G>A c.(1630-1632)GTC>ATC p.V544I FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.V544I NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 544 large_intestine(1)|ovary(1) 2 ATATCACTCTGTCGTCTCATG 0.398 NA 4 24 0 0 0 0 TRPC3 7222 broad.mit.edu 37 4 122800994 122800994 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:122800994C>T uc003ieg.2 - 12 2737 c.2663G>A c.(2662-2664)CGT>CAT p.R888H TRPC3_uc010inr.2_Missense_Mutation_p.R760H|TRPC3_uc003ief.2_Missense_Mutation_p.R815H|TRPC3_uc011cgl.1_Missense_Mutation_p.R552H NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 803 Extracellular (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AAGTTCATAACGAAGGCTGGA 0.333 NA 9 28 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126336256 126336256 + Missense_Mutation SNP T T A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr4:126336256T>A uc003ifj.3 + 5 6138 c.6138T>A c.(6136-6138)GAT>GAA p.D2046E FAT4_uc011cgp.1_Missense_Mutation_p.D344E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2046 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATGTAAATGATAACCCACCGA 0.408 NA 24 118 0 0 0 0 MCCC2 64087 broad.mit.edu 37 5 70948526 70948526 + Nonsense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr5:70948526G>T uc003kbs.3 + 16 1657 c.1519G>T c.(1519-1521)GAG>TAG p.E507* MCCC2_uc003kbt.3_RNA NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 507 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GGCTTTAAAAGAGCCCATCAT 0.463 NA 9 32 2.18e-05 2.3e-05 1 0 PCDHB2 56133 broad.mit.edu 37 5 140476702 140476702 + Silent SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr5:140476702C>T uc003lil.2 + 1 2466 c.2328C>T c.(2326-2328)TTC>TTT p.F776F PCDHB2_uc003lim.1_Silent_p.F437F NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 776 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCCAACTTCGTTGCTCAGG 0.507 NA 20 79 0 0 0 0 SYNPO 11346 broad.mit.edu 37 5 150027825 150027825 + Silent SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr5:150027825C>T uc003lsn.2 + 3 1094 c.720C>T c.(718-720)GTC>GTT p.V240V SYNPO_uc003lso.3_5'UTR|SYNPO_uc003lsp.2_5'UTR NM_001109974 NP_001103444 Q8N3V7 SYNPO_HUMAN synaptopodin isoform B 240 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding large_intestine(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACAGAGGGGTCCCTGGCCACA 0.667 NA 10 23 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150922849 150922849 + Missense_Mutation SNP A A C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr5:150922849A>C uc003lue.3 - 9 7852 c.7839T>G c.(7837-7839)GAT>GAG p.D2613E GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2613 Cadherin 23.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTGACCTTCATCTGCATCAT 0.458 NA 39 154 0 0 0 0 HAVCR2 84868 broad.mit.edu 37 5 156514184 156514184 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr5:156514184C>T uc003lwk.1 - 7 979 c.835G>A c.(835-837)GAG>AAG p.E279K NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 279 Cytoplasmic (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAATAATACTCATTGGGCTCC 0.463 NA 11 43 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169502981 169502981 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr5:169502981C>A uc003maf.2 + 47 4839 c.4759C>A c.(4759-4761)CAT>AAT p.H1587N DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.H1079N|DOCK2_uc003mah.2_Missense_Mutation_p.H143N NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1587 DHR-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) GATTAAGATCCATGAGAAAAG 0.532 NA 23 107 1.97e-08 2.18e-08 1 0 HIST1H4E 8367 broad.mit.edu 37 6 26205150 26205150 + Missense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr6:26205150G>C uc003ngy.2 + 1 278 c.278G>C c.(277-279)AGA>ACA p.R93T NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 93 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) GCGCTGAAGAGACAGGGACGC 0.537 NA 6 43 0 0 0 0 MICB 4277 broad.mit.edu 37 6 31474816 31474816 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr6:31474816G>A uc003ntn.3 + 4 747 c.631G>A c.(631-633)GTC>ATC p.V211I MICB_uc011dnm.1_Missense_Mutation_p.V179I|MICB_uc003nto.3_Missense_Mutation_p.V168I NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 211 Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 CATGGTGAATGTCACCTGCAG 0.587 NA 10 42 0 0 0 0 ENPP1 5167 broad.mit.edu 37 6 132195426 132195426 + Silent SNP A A G TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr6:132195426A>G uc011ecf.1 + 16 1604 c.1584A>G c.(1582-1584)AAA>AAG p.K528K ENPP1_uc003qcy.2_Silent_p.K158K NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 528 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CAGAAAGGAAATATTGTGGAA 0.259 NA 19 83 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152647096 152647096 + Missense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr6:152647096G>T uc010kiw.2 - 80 16037 c.15435C>A c.(15433-15435)CAC>CAA p.H5145Q SYNE1_uc003qot.3_Missense_Mutation_p.H5074Q|SYNE1_uc003qou.3_Missense_Mutation_p.H5145Q|SYNE1_uc010kiz.2_Missense_Mutation_p.H900Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5145 Spectrin 16.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTGACCTTGTGTTCTGACA 0.313 NA HNSCC(10;0.0054) 4 31 0.00024832 0.000256912 1 0 RBM16 22828 broad.mit.edu 37 6 155153217 155153217 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr6:155153217C>T uc003qqa.2 + 21 2736 c.2504C>T c.(2503-2505)TCC>TTC p.S835F TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.S901F|RBM16_uc011efk.1_Missense_Mutation_p.S880F|RBM16_uc003qpz.2_Missense_Mutation_p.S835F|RBM16_uc010kji.2_Intron NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 835 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) TCTAATGTTTCCAGTAGTTCT 0.423 NA 11 84 0 0 0 0 HDAC9 9734 broad.mit.edu 37 7 18788641 18788641 + Silent SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr7:18788641C>T uc003suh.2 + 13 1955 c.1914C>T c.(1912-1914)GAC>GAT p.D638D HDAC9_uc003sue.2_Silent_p.D638D|HDAC9_uc011jyd.1_Silent_p.D638D|HDAC9_uc003sui.2_Silent_p.D641D|HDAC9_uc003suj.2_Silent_p.D597D|HDAC9_uc003sua.1_Silent_p.D616D|HDAC9_uc010kue.1_Silent_p.D293D NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 638 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TTGCCTATGACCCCTTGATGC 0.428 NA 6 15 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33185916 33185916 + Missense_Mutation SNP G G C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr7:33185916G>C uc003tdn.1 + 2 565 c.52G>C c.(52-54)GAA>CAA p.E18Q BBS9_uc003tdo.1_Missense_Mutation_p.E18Q|BBS9_uc003tdp.1_Missense_Mutation_p.E18Q|BBS9_uc003tdq.1_Missense_Mutation_p.E18Q|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.E18Q NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 18 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GGGAGATAAAGAAGAATTTGA 0.333 NA Bardet-Biedl_syndrome 15 58 0 0 0 0 PKD1L1 168507 broad.mit.edu 37 7 47920383 47920383 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr7:47920383T>C uc003tny.1 - 21 3463 c.3463A>G c.(3463-3465)ACA>GCA p.T1155A NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1155 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GGCTTGATTGTCACTGTCTGT 0.468 NA 9 43 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87081037 87081037 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr7:87081037C>T uc003uiv.1 - 7 686 c.610G>A c.(610-612)GCA>ACA p.A204T ABCB4_uc003uiw.1_Missense_Mutation_p.A204T|ABCB4_uc003uix.1_Missense_Mutation_p.A204T NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 204 Helical; (By similarity).|ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATGAATCCTGCAAAAAACGTG 0.443 NA 15 76 0 0 0 0 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NA 6 22 0 0 0 0 TSGA14 95681 broad.mit.edu 37 7 130039889 130039889 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr7:130039889C>A uc003vpz.2 - 10 1011 c.964G>T c.(964-966)GAT>TAT p.D322Y TSGA14_uc003vpy.2_Missense_Mutation_p.D84Y|TSGA14_uc010lmf.2_Missense_Mutation_p.D119Y|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 322 G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) CTAGGATGATCTGCAGGCCCT 0.383 NA 14 74 1.58e-08 1.76e-08 1 0 KCNU1 157855 broad.mit.edu 37 8 36673194 36673194 + Silent SNP C C G TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr8:36673194C>G uc010lvw.2 + 9 1071 c.984C>G c.(982-984)CTC>CTG p.L328L KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 328 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATGAAGCACTCAAAGGAAAGA 0.323 NA 6 26 0 0 0 0 GOT1L1 137362 broad.mit.edu 37 8 37793279 37793279 + Missense_Mutation SNP T T C TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr8:37793279T>C uc011lbj.1 - 7 972 c.872A>G c.(871-873)AAC>AGC p.N291S NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 291 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity ovary(1) 1 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) TGCACCCGTGTTGGGGGGGTT 0.612 NA 9 22 0 0 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68208832 68208832 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr8:68208832G>A uc003xxo.1 - 5 863 c.473C>T c.(472-474)GCA>GTA p.A158V NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 158 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) TGATGTTACTGCAGTAAGTAA 0.244 NA 3 31 0 0 0 0 RBM12B 389677 broad.mit.edu 37 8 94748464 94748464 + Missense_Mutation SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr8:94748464G>A uc003yfz.2 - 3 368 c.175C>T c.(175-177)CGT>TGT p.R59C NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 59 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTCCTGAACGACTTATGGCA 0.403 NA 31 99 0 0 0 0 UNC13B 10497 broad.mit.edu 37 9 35389887 35389887 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr9:35389887C>A uc003zwq.2 + 24 3184 c.2892C>A c.(2890-2892)AAC>AAA p.N964K UNC13B_uc003zwr.2_Missense_Mutation_p.N964K NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 964 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GCATTCGGAACCTGGATTTCT 0.483 NA 23 83 1.5e-11 1.69e-11 1 0 KIAA1529 57653 broad.mit.edu 37 9 100137790 100137790 + Silent SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr9:100137790C>A uc011lut.1 + 48 6083 c.5310C>A c.(5308-5310)CTC>CTA p.L1770L KIAA1529_uc004axe.1_Silent_p.L1576L|KIAA1529_uc004axg.1_Silent_p.L1631L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.L724L NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) AGATTCTTCTCCAGCCAACAT 0.522 NA 14 50 3.27e-08 3.61e-08 1 0 DBC1 1620 broad.mit.edu 37 9 121971050 121971050 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr9:121971050G>A uc004bkc.2 - 7 1548 c.1092C>T c.(1090-1092)TTC>TTT p.F364F NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 364 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CACTGAGGCCGAAAAGCTTGC 0.587 NA 10 35 0 0 0 0 SPTAN1 6709 broad.mit.edu 37 9 131345356 131345356 + Missense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr9:131345356G>T uc004bvl.3 + 15 1920 c.1807G>T c.(1807-1809)GAT>TAT p.D603Y SPTAN1_uc011mbg.1_Missense_Mutation_p.D603Y|SPTAN1_uc011mbh.1_Missense_Mutation_p.D615Y|SPTAN1_uc004bvm.3_Missense_Mutation_p.D603Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.D603Y NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 603 Spectrin 7. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TTATTCACAGGATCCATCCAA 0.438 NA 8 27 0.00307968 0.00314274 1 0 NOTCH1 4851 broad.mit.edu 37 9 139401394 139401394 + Nonsense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr9:139401394G>T uc004chz.2 - 23 3675 c.3675C>A c.(3673-3675)TGC>TGA p.C1225* NOTCH1_uc004cia.1_Nonsense_Mutation_p.C455* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1225 Extracellular (Potential).|EGF-like 32; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGGGGGGATTGCAGTCGTCCA 0.687 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 3 6 0.00024832 0.000256912 1 0 ATP7A 538 broad.mit.edu 37 X 77245061 77245061 + Missense_Mutation SNP A A T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chrX:77245061A>T uc004ecx.3 + 4 1103 c.943A>T c.(943-945)AGG>TGG p.R315W ATP7A_uc004ecw.2_Missense_Mutation_p.R315W NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 315 HMA 3.|Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TTTAGAGAATAGGTCTGCCAT 0.388 NA 34 166 0 0 0 0 DRP2 1821 broad.mit.edu 37 X 100497333 100497333 + Missense_Mutation SNP C C A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chrX:100497333C>A uc004egz.2 + 8 1217 c.848C>A c.(847-849)TCC>TAC p.S283Y DRP2_uc011mrh.1_Missense_Mutation_p.S205Y NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 283 Spectrin 2. central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GAAGAATTCTCCCCCATGAAA 0.478 NA 46 226 8.21e-20 9.33e-20 1 0 KIAA1210 57481 broad.mit.edu 37 X 118222748 118222748 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chrX:118222748G>A uc004era.3 - 11 2445 c.2445C>T c.(2443-2445)TTC>TTT p.F815F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 815 ovary(4)|skin(1) 5 TTGATTCTGAGAAGACTTCTT 0.483 NA 6 28 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135428693 135428693 + Missense_Mutation SNP C C T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chrX:135428693C>T uc004ezu.1 + 6 3119 c.2828C>T c.(2827-2829)TCA>TTA p.S943L GPR112_uc010nsb.1_Missense_Mutation_p.S738L|GPR112_uc010nsc.1_Missense_Mutation_p.S710L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 943 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) CATTGGACTTCAGAGACATCT 0.423 NA 36 168 0 0 0 0 L1CAM 3897 broad.mit.edu 37 X 153135917 153135917 + Silent SNP G G A TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chrX:153135917G>A uc004fjb.2 - 7 840 c.732C>T c.(730-732)TTC>TTT p.F244F L1CAM_uc004fjc.2_Silent_p.F244F|L1CAM_uc010nuo.2_Silent_p.F239F|L1CAM_uc004fjd.1_Silent_p.F58F|L1CAM_uc004fje.1_Silent_p.F239F NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 244 Extracellular (Potential).|Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTTGGTGGGGAAGAGCAGGC 0.592 NA 9 36 0 0 0 0 PADI2 11240 broad.mit.edu 37 1 17413121 17413121 + Frame_Shift_Del DEL A A - rs2076615 byFrequency TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr1:17413121delA uc001baf.2 - 7 811 c.729delT c.(727-729)GGTfs p.G243fs PADI2_uc010ocm.1_Frame_Shift_Del_p.V162fs|PADI2_uc001bag.1_Frame_Shift_Del_p.G243fs NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 243 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CCGCGGAGCCACCCGTGTACT 0.597 NA 8 74 --- --- --- --- NA NA NA NA ANO3 63982 broad.mit.edu 37 11 26558965 26558966 + Frame_Shift_Del DEL TT TT - TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr11:26558965_26558966delTT uc001mqt.3 + 10 1134_1135 c.989_990delTT c.(988-990)CTTfs p.L330fs ANO3_uc010rdr.1_Frame_Shift_Del_p.L314fs|ANO3_uc010rds.1_Frame_Shift_Del_p.L169fs|ANO3_uc010rdt.1_Frame_Shift_Del_p.L184fs NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 330 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATCCGTAAACTTATAAACAATG 0.361 NA 16 82 --- --- --- --- NA NA NA NA DSG3 1830 broad.mit.edu 37 18 29052346 29052346 + Frame_Shift_Del DEL T T - TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr18:29052346delT uc002kws.2 + 13 2106 c.1997delT c.(1996-1998)ATTfs p.I666fs DSG3_uc002kwt.2_5'Flank NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 666 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAAGGAACAATTCATCAGTGG 0.453 NA 13 42 --- --- --- --- NA NA NA NA GALNT13 114805 broad.mit.edu 37 2 155102369 155102369 + Frame_Shift_Del DEL C C - TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr2:155102369delC uc002tyr.3 + 7 1298 c.731delC c.(730-732)ACTfs p.T244fs GALNT13_uc002tyt.3_Frame_Shift_Del_p.T244fs|GALNT13_uc010foc.1_Frame_Shift_Del_p.T63fs|GALNT13_uc010fod.2_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 244 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AGTGATGATACTTTTGAATAT 0.373 NA 17 68 --- --- --- --- NA NA NA NA NECAB1 64168 broad.mit.edu 37 8 91836982 91836982 + Frame_Shift_Del DEL T T - TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr8:91836982delT uc011lgg.1 + 3 356 c.162delT c.(160-162)TATfs p.Y54fs NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 54 EF-hand 1. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) TCAAAGCATATTTTGCAGATG 0.313 NA 2 4 --- --- --- --- NA NA NA NA PLEC 5339 broad.mit.edu 37 8 144993120 144993122 + In_Frame_Del DEL GAT GAT - TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 790e387e-9e87-48d0-bc9d-2bc92f20abc5 4b6c7938-cf69-4026-89db-605d1a31ac18 g.chr8:144993120_144993122delGAT uc003zaf.1 - 32 11448_11450 c.11278_11280delATC c.(11278-11280)ATCdel p.I3760del PLEC_uc003zab.1_In_Frame_Del_p.I3623del|PLEC_uc003zac.1_In_Frame_Del_p.I3627del|PLEC_uc003zad.2_In_Frame_Del_p.I3623del|PLEC_uc003zae.1_In_Frame_Del_p.I3591del|PLEC_uc003zag.1_In_Frame_Del_p.I3601del|PLEC_uc003zah.2_In_Frame_Del_p.I3609del|PLEC_uc003zaj.2_In_Frame_Del_p.I3650del NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3760 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CAATGATCTCGATGATGATGATG 0.621 NA 15 68 --- --- --- --- NA NA NA NA