Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C C G rs143004725 by1000genomes TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:12885059C>G uc001auk.2 - 4 1248 c.1052G>C c.(1051-1053)TGC>TCC p.C351S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 351 LRR 6. 0 GGTGGCCATGCAGATGGGATT 0.532 NA 6 364 0 0 0.00307968 0 0 AKR7A2 8574 broad.mit.edu 37 1 19633532 19633532 + Missense_Mutation SNP A A G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:19633532A>G uc001bbw.2 - 5 774 c.752T>C c.(751-753)TTC>TCC p.F251S AKR7A2_uc001bbx.2_Missense_Mutation_p.F216S NM_003689 NP_003680 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 251 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATTCCCAAAGAAGCGGCCCAC 0.597 NA 24 173 0 0 0.000720815 0 0 GRHL3 57822 broad.mit.edu 37 1 24668675 24668675 + Missense_Mutation SNP A A G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:24668675A>G uc001biy.2 + 9 1179 c.1133A>G c.(1132-1134)AAC>AGC p.N378S GRHL3_uc001bix.2_Missense_Mutation_p.N373S|GRHL3_uc001biz.2_Missense_Mutation_p.N280S NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 373 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GTCCCCCTGAACCTGCAGATT 0.562 NA 14 154 0 0 0.00316338 0 0 EPHA10 284656 broad.mit.edu 37 1 38227383 38227383 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:38227383G>A uc009vvi.2 - 3 630 c.544C>T c.(544-546)CCG>TCG p.P182S EPHA10_uc001cbw.3_Missense_Mutation_p.P182S NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 182 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGGCTGAGCGGTCCGATCTCG 0.657 NA 42 38 0 0 0.00361006 0 0 KANK4 163782 broad.mit.edu 37 1 62740052 62740052 + Missense_Mutation SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:62740052G>T uc001dah.3 - 3 1101 c.724C>A c.(724-726)CCA>ACA p.P242T KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 242 Pro-rich. ovary(3)|skin(2)|lung(1) 6 AGGTGATTTGGAACCTTCACC 0.542 NA 17 49 1.45105e-14 6.44537e-14 0.00074312 1 0 CHIA 27159 broad.mit.edu 37 1 111857983 111857983 + Missense_Mutation SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:111857983G>T uc001eas.2 + 6 509 c.406G>T c.(406-408)GAC>TAC p.D136Y CHIA_uc001ear.2_Missense_Mutation_p.D28Y|CHIA_uc001eaq.2_Missense_Mutation_p.D28Y|CHIA_uc009wgc.2_Missense_Mutation_p.D28Y|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 136 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TGACGGGCTGGACTTTGACTG 0.542 NA 69 83 4.46356e-37 2.02986e-36 0.00361006 1 0 NUDT17 200035 broad.mit.edu 37 1 145586632 145586633 + Missense_Mutation DNP CA CA AT TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:145586632_145586633CA>AT uc001eoe.2 - 8 951_952 c.943_944TG>AT c.(943-945)TGG>ATG p.W315M NBPF10_uc001emp.3_Intron NM_001012758 NP_001012776 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety 315 hydrolase activity|metal ion binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTCCATGTTCCATTCTTCCTTT 0.52 NA 9 113 0 0 6.4e-05 0 0 ASH1L 55870 broad.mit.edu 37 1 155349869 155349869 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:155349869G>A uc009wqq.2 - 8 6637 c.6157C>T c.(6157-6159)CCT>TCT p.P2053S RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.P2048S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2053 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATATCATAAGGAAGCTGGAAG 0.368 NA 30 95 0 0 0.00283554 0 0 CD1B 910 broad.mit.edu 37 1 158299774 158299774 + Missense_Mutation SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:158299774C>G uc001frx.2 - 3 583 c.475G>C c.(475-477)GCA>CCA p.A159P CD1B_uc001frw.2_Missense_Mutation_p.A52P NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 159 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) AATTTCTGTGCCCTGCTGCCA 0.483 NA 4 260 0 0 0.000602214 0 0 LAMB3 3914 broad.mit.edu 37 1 209807939 209807939 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:209807939G>A uc001hhg.2 - 5 807 c.417C>T c.(415-417)TTC>TTT p.F139F LAMB3_uc009xco.2_Silent_p.F139F|LAMB3_uc001hhh.2_Silent_p.F139F|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 139 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGGTCTTACCGAAGTCTGAGG 0.667 NA 7 30 0 0 0.00198382 0 0 FAM71A 149647 broad.mit.edu 37 1 212798521 212798521 + Missense_Mutation SNP A A C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:212798521A>C uc001hjk.2 + 1 706 c.302A>C c.(301-303)CAT>CCT p.H101P uc010pth.1_Intron NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 101 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TATGCTGGACATGGCCAGGCC 0.557 NA 32 82 0 0 0.00178596 0 0 RYR2 6262 broad.mit.edu 37 1 237947335 237947335 + Missense_Mutation SNP A A G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr1:237947335A>G uc001hyl.1 + 90 12443 c.12323A>G c.(12322-12324)CAC>CGC p.H4108R RYR2_uc010pya.1_Missense_Mutation_p.H523R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4108 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) CTCTCTGAGCACATGCCCAAC 0.512 NA 9 63 0 0 0.000442599 0 0 NODAL 4838 broad.mit.edu 37 10 72195117 72195117 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr10:72195117G>A uc001jrc.2 - 2 858 c.816C>T c.(814-816)AAC>AAT p.N272N NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 272 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 AGCGATAGGCGTTGTACTGCT 0.557 NA 27 13 0 0 0.000878237 0 0 PLAU 5328 broad.mit.edu 37 10 75673358 75673358 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr10:75673358G>A uc001jwa.2 + 7 668 c.522G>A c.(520-522)AGG>AGA p.R174R C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Silent_p.R157R|PLAU_uc010qkx.1_Silent_p.R88R|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Silent_p.R174R|PLAU_uc009xrq.1_Silent_p.R138R NM_002658 NP_002649 P00749 UROK_HUMAN plasminogen activator, urokinase isoform 1 174 Connecting peptide. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity ovary(2)|kidney(1) 3 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) AGACTCTGAGGCCCCGCTTTA 0.532 NA 41 275 0 0 0.00195071 0 0 MAT1A 4143 broad.mit.edu 37 10 82049168 82049168 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr10:82049168C>T uc001kbw.2 - 1 267 c.12G>A c.(10-12)CCG>CCA p.P4P NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 4 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) AGCCATCCACCGGTCCATTCA 0.443 NA 31 70 0 0 0.00209593 0 0 LRRC27 80313 broad.mit.edu 37 10 134179056 134179056 + Splice_Site SNP T T G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr10:134179056T>G uc010quw.1 + 10 1611 c.1416_splice c.e10+2 p.I472_splice LRRC27_uc001llg.2_Splice_Site|LRRC27_uc001lli.2_Splice_Site_p.I472_splice|LRRC27_uc001llj.2_Splice_Site_p.I410_splice|LRRC27_uc001llk.3_Splice_Site_p.I345_splice NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CTGGAAATTGTAAGGATTTCT 0.328 NA 6 48 0 0 0.00116845 0 0 OR52E6 390078 broad.mit.edu 37 11 5862730 5862730 + Nonsense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:5862730C>T uc010qzq.1 - 1 398 c.398G>A c.(397-399)TGG>TAG p.W133* TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGTGTACCAAAGAGGTTT 0.468 NA 53 216 0 0 0.00361006 0 0 KCNC1 3746 broad.mit.edu 37 11 17757771 17757771 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:17757771C>T uc001mnk.3 + 1 277 c.222C>T c.(220-222)GGC>GGT p.G74G KCNC1_uc009yhc.1_Silent_p.G74G NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 74 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 ACCGCACGGGCAAGCTGCACT 0.652 NA 5 75 0 0 0.000602214 0 0 OR8H3 390152 broad.mit.edu 37 11 55890553 55890553 + Missense_Mutation SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:55890553G>C uc001nii.1 + 1 705 c.705G>C c.(703-705)CAG>CAC p.Q235H NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CAGGAAAGCAGAAAGCTTTCT 0.413 NA 38 112 0 0 0.00111076 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080491 57080491 + Silent SNP A A G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:57080491A>G uc001njr.2 - 4 1983 c.1671T>C c.(1669-1671)GAT>GAC p.D557D TNKS1BP1_uc001njs.2_Silent_p.D557D|TNKS1BP1_uc009ymd.1_Silent_p.D8D NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 557 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GACTCTCCCCATCGCCCTTCT 0.592 NA 12 37 0 0 0.00185496 0 0 OR4D6 219983 broad.mit.edu 37 11 59225216 59225216 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:59225216C>T uc010rku.1 + 1 783 c.783C>T c.(781-783)CCC>CCT p.P261P NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACTGCCGGCCCTTCATGACGC 0.527 NA 47 97 0 0 0.00361006 0 0 AHNAK 79026 broad.mit.edu 37 11 62288527 62288527 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:62288527G>A uc001ntl.2 - 5 13662 c.13362C>T c.(13360-13362)ATC>ATT p.I4454I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4454 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGAGCTTTGATGTTCATCT 0.443 NA 16 232 0 0 0.00400662 0 0 SCN2B 6327 broad.mit.edu 37 11 118047142 118047142 + Missense_Mutation SNP T T A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:118047142T>A uc001psf.2 - 1 196 c.5A>T c.(4-6)CAC>CTC p.H2L NM_004588 NP_004579 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta 2 H -> Q (in Ref. 1; AAC26013). synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) GGCATCTCTGTGCATTTTCAG 0.522 NA 14 87 0 0 0.00244969 0 0 VWA5A 4013 broad.mit.edu 37 11 123988563 123988563 + Missense_Mutation SNP A A C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr11:123988563A>C uc001pzu.2 + 4 436 c.227A>C c.(226-228)GAA>GCA p.E76A VWA5A_uc001pzr.2_Missense_Mutation_p.E76A|VWA5A_uc001pzs.2_Missense_Mutation_p.E76A|VWA5A_uc010sae.1_Missense_Mutation_p.E92A|VWA5A_uc001pzt.2_Missense_Mutation_p.E76A NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 76 VIT. upper_aerodigestive_tract(1)|ovary(1) 2 ATTGTAGCAGAATTACAAGAC 0.413 NA 72 38 0 0 0.00361006 0 0 Unknown 0 broad.mit.edu 37 12 92000 92000 + Missense_Mutation SNP A A T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr12:92000A>T uc010sdi.1 - 2 338 c.310T>A c.(310-312)TTG>ATG p.L104M uc010sdj.1_RNA SubName: Full=DEAD/H box polypeptide 11 like 11; NA GGTCCTGGCAACACTCTGGAC 0.572 NA 6 8 0 0 0.00307968 0 0 DDX12 440081 broad.mit.edu 37 12 9574020 9574020 + Silent SNP T T C rs149364690 by1000genomes TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr12:9574020T>C uc010sgs.1 - 20 2211 c.2016A>G c.(2014-2016)CTA>CTG p.L672L DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 ACGTGAATTCTAGCGGCTGGT 0.597 NA 3 59 0 0 0.000602214 0 0 CLEC1A 51267 broad.mit.edu 37 12 10233993 10233993 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr12:10233993G>A uc001qxb.2 - 3 318 c.234C>T c.(232-234)CTC>CTT p.L78L CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.L35L|CLEC1A_uc010sgx.1_Intron NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 78 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 CAGTATTGGAGAGCTGGTAGT 0.373 NA 9 48 0 0 0.000442599 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77220764 77220764 + Missense_Mutation SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr12:77220764T>C uc001syk.1 + 9 1137 c.974T>C c.(973-975)ATT>ACT p.I325T ZDHHC17_uc001syj.2_RNA NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 325 Helical; (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 GACCTAAATATTGATTCTTGG 0.338 NA 5 116 0 0 0.00116845 0 0 MED13L 23389 broad.mit.edu 37 12 116446313 116446313 + Silent SNP A A G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr12:116446313A>G uc001tvw.2 - 10 1960 c.1905T>C c.(1903-1905)AGT>AGC p.S635S NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 635 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGAGACGATAACTATGCCACC 0.522 NA 7 34 0 0 0.00198382 0 0 CIT 11113 broad.mit.edu 37 12 120306960 120306960 + Silent SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr12:120306960G>T uc001txi.1 - 3 195 c.142C>A c.(142-144)CGA>AGA p.R48R CIT_uc001txj.1_Silent_p.R48R NM_007174 NP_009105 O14578 CTRO_HUMAN citron 48 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ATCCCTTCTCGGGAAAGAGGA 0.433 NA 6 189 0.00198382 0.0081779 0.00198382 1 0 SOHLH2 54937 broad.mit.edu 37 13 36748974 36748974 + Missense_Mutation SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr13:36748974C>G uc001uvj.2 - 7 763 c.674G>C c.(673-675)CGT>CCT p.R225P SOHLH2_uc010tei.1_Missense_Mutation_p.R302P NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 225 Helix-loop-helix motif. cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CAAGAGAGTACGCAGCTGCTC 0.393 NA 3 54 0 0 6.4e-05 0 0 NEK5 341676 broad.mit.edu 37 13 52686454 52686454 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr13:52686454G>A uc001vge.2 - 5 402 c.262C>T c.(262-264)CTC>TTC p.L88F NEK5_uc001vgf.2_Missense_Mutation_p.L88F NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 88 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTTTTCATGAGATCCCCTCCA 0.373 NA 6 80 0 0 0.00198382 0 0 DIS3 22894 broad.mit.edu 37 13 73355908 73355908 + Silent SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr13:73355908G>C uc001vix.3 - 1 437 c.63C>G c.(61-63)CGC>CGG p.R21R PIBF1_uc001vja.1_5'Flank|PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.2_5'Flank|PIBF1_uc001vjc.2_5'Flank|PIBF1_uc010aep.2_5'Flank|DIS3_uc001viy.3_Silent_p.R21R|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 21 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) GGTAGTGCTCGCGCACGATCT 0.677 NA Multiple Myeloma(4;0.011) 13 10 0 0 0.00185496 0 0 OR4K5 79317 broad.mit.edu 37 14 20389038 20389038 + Silent SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr14:20389038C>G uc010tkw.1 + 1 273 c.273C>G c.(271-273)ACC>ACG p.T91T NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CACACGAGACCATATCTTTCA 0.418 NA 29 580 0 0 0.001512 0 0 OR4N4 283694 broad.mit.edu 37 15 22332432 22332432 + Translation_Start_Site SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr15:22332432C>T uc001yuc.1 + 3 239 c.-742C>T c.(-744--740)AACGT>AATGT LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AAGATTCTAACGTGACAGAAC 0.328 NA 11 57 0 0 0.00136819 0 0 UBR1 197131 broad.mit.edu 37 15 43398195 43398195 + Missense_Mutation SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr15:43398195G>T uc001zqq.2 - 1 92 c.26C>A c.(25-27)ACT>AAT p.T9N UBR1_uc010udk.1_Missense_Mutation_p.T9N NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 9 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CATCCTCTCAGTACCTCCAGC 0.612 NA 10 5 1.58986e-06 6.74809e-06 0.000673444 1 0 CEP152 22995 broad.mit.edu 37 15 49089914 49089914 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr15:49089914C>T uc001zwy.2 - 4 239 c.205G>A c.(205-207)GAG>AAG p.E69K CEP152_uc001zwz.2_Missense_Mutation_p.E69K|CEP152_uc001zxa.1_Missense_Mutation_p.E69K NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 69 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) TCCAATTGCTCAGGATGATGT 0.388 NA 8 83 0 0 0.000274275 0 0 AGBL1 123624 broad.mit.edu 37 15 86687016 86687016 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr15:86687016C>T uc002blz.1 + 2 144 c.64C>T c.(64-66)CCT>TCT p.P22S NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 22 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GAGGACAGCTCCTCCAGACTA 0.547 NA 20 49 0 0 0.00121646 0 0 SPSB3 90864 broad.mit.edu 37 16 1828259 1828259 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr16:1828259C>T uc002cmr.2 - 3 401 c.368G>A c.(367-369)CGT>CAT p.R123H SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.R123H|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_3'UTR NM_080861 NP_543137 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box 123 B30.2/SPRY. intracellular signal transduction 0 GCTGACCTTACGGTTGTCACA 0.597 NA 6 32 0 0 0.00198382 0 0 SMG1 23049 broad.mit.edu 37 16 18896929 18896929 + Silent SNP A A G rs140363576 by1000genomes TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr16:18896929A>G uc002dfm.2 - 7 1245 c.882T>C c.(880-882)TGT>TGC p.C294C SMG1_uc010bwb.2_Silent_p.C154C NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 294 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TAACACATTTACAAAGCAATT 0.373 NA 3 117 0 0 0.00024832 0 0 ACSM1 116285 broad.mit.edu 37 16 20702350 20702350 + Missense_Mutation SNP T T A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr16:20702350T>A uc002dhm.1 - 1 229 c.161A>T c.(160-162)TAT>TTT p.Y54F ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.Y54F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 54 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 GTCCAGTACATAACTTGCAAA 0.478 NA 14 116 0 0 0.00244969 0 0 CHD9 80205 broad.mit.edu 37 16 53191330 53191330 + Silent SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr16:53191330T>C uc002ehb.2 + 1 1493 c.1329T>C c.(1327-1329)CAT>CAC p.H443H CHD9_uc002egy.2_Silent_p.H443H|CHD9_uc002egz.1_Silent_p.H443H|CHD9_uc002eha.1_Silent_p.H443H|CHD9_uc002ehc.2_Silent_p.H443H NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 443 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TTACTTCGCATCTGGTAACAC 0.423 NA 8 49 0 0 0.000978159 0 0 CLEC3A 10143 broad.mit.edu 37 16 78062031 78062031 + Missense_Mutation SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr16:78062031T>C uc002ffh.3 + 2 224 c.143T>C c.(142-144)ATT>ACT p.I48T NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 48 skeletal system development extracellular region sugar binding 0 AAGACTCAAATTGAAAAGCTC 0.448 NA 16 80 0 0 0.000566183 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A rs11540654 TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:7579358C>A uc002gim.2 - 4 523 c.329G>T c.(328-330)CGT>CTT p.R110L TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 110 Interaction with HIPK1 (By similarity).||Interaction with WWOX. R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAGCCCAGACGGAAACCGTA 0.612 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 52 17 6.3008e-33 2.8428e-32 0.00361006 1 0 MYH4 4622 broad.mit.edu 37 17 10366250 10366250 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:10366250C>T uc002gmn.2 - 11 1051 c.940G>A c.(940-942)GCA>ACA p.A314T uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 314 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CTGACAAATGCGAAGTCATAT 0.403 NA 22 41 0 0 0.000720815 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612212 16612212 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:16612212G>A uc002gqk.1 + 5 917 c.841G>A c.(841-843)GAA>AAA p.E281K CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 281 0 AATGTGGATTGAACAAGGCAA 0.358 NA 30 39 0 0 0.00428921 0 0 SUPT6H 6830 broad.mit.edu 37 17 27016420 27016420 + Missense_Mutation SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:27016420G>C uc002hby.2 + 25 3273 c.3183G>C c.(3181-3183)GAG>GAC p.E1061D SUPT6H_uc010crt.2_Missense_Mutation_p.E1061D|SUPT6H_uc002hbz.1_5'UTR NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1061 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TCCACCCTGAGACTTATGAGT 0.468 NA 23 71 0 0 0.00332997 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261822 39261822 + Missense_Mutation SNP A A C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:39261822A>C uc010wfp.1 + 1 182 c.182A>C c.(181-183)CAA>CCA p.Q61P NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 61 8.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament 0 GTGTGCTGCCAACCCACTTGT 0.647 NA 4 118 0 0 0.00024832 0 0 DHX40P1 653645 broad.mit.edu 37 17 58075543 58075543 + Missense_Mutation SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:58075543T>C uc002iyf.2 - 7 535 c.300A>G c.(298-300)ATA>ATG p.I100M NR_002924 Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene, mRNA (cDNA clone IMAGE:5170263). 0 TATTGGTGGATATGACACATT 0.338 NA 34 23 0 0 0.00128727 0 0 CSH2 1443 broad.mit.edu 37 17 61950686 61950686 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:61950686G>A uc002jch.2 - 2 139 c.24C>T c.(22-24)TCC>TCT p.S8S CSH2_uc002jcg.2_Silent_p.S8S|CSH2_uc002jci.2_Silent_p.S8S|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.S8S NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 8 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 CCAGGAGCAGGGACGTCCGGG 0.607 NA 27 49 0 0 0.00428921 0 0 GH1 2688 broad.mit.edu 37 17 61994726 61994726 + Silent SNP G G A rs142704768 byFrequency TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:61994726G>A uc002jdj.2 - 5 659 c.597C>T c.(595-597)GTC>GTT p.V199V GH1_uc002jdi.2_Silent_p.V184V|GH1_uc002jdk.2_Silent_p.V159V|GH1_uc002jdl.2_Silent_p.V104V|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.S153L NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 199 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 GGAATGTCTCGACCTTGTCCA 0.582 NA 16 53 0 0 0.000566183 0 0 DNAI2 64446 broad.mit.edu 37 17 72287186 72287186 + Missense_Mutation SNP T T A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:72287186T>A uc002jkf.2 + 6 737 c.638T>A c.(637-639)CTG>CAG p.L213Q DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 213 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 GAACTTGCTCTGAAGCCATCG 0.498 NA Kartagener_syndrome 88 465 0 0 0.00361006 0 0 SETBP1 26040 broad.mit.edu 37 18 42531615 42531615 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr18:42531615G>A uc010dni.2 + 4 2606 c.2310G>A c.(2308-2310)GCG>GCA p.A770A NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 770 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACTTGTGGCGTCTTCACCAG 0.527 NA Schinzel-Giedion_syndrome 17 53 0 0 0.00400662 0 0 MBD2 8932 broad.mit.edu 37 18 51715381 51715381 + Missense_Mutation SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr18:51715381C>G uc002lfg.1 - 3 932 c.703G>C c.(703-705)GGT>CGT p.G235R NM_003927 NP_003918 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 isoform 1 235 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding 0 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) TCTGGTTTACCCTGTGaatat 0.264 NA 6 112 0 0 0.00116845 0 0 FBN3 84467 broad.mit.edu 37 19 8130962 8130962 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr19:8130962G>A uc002mjf.2 - 63 8292 c.8271C>T c.(8269-8271)GGC>GGT p.G2757G FBN3_uc002mje.2_Silent_p.G553G NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2757 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGGAGCTGACGCCACGGAGGT 0.682 NA 10 100 0 0 0.00185496 0 0 UNC13A 23025 broad.mit.edu 37 19 17756535 17756535 + Silent SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr19:17756535C>G uc002nhd.2 - 19 2568 c.2568G>C c.(2566-2568)ACG>ACC p.T856T NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 768 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CCTCAATGATCGTCTGCCCCA 0.597 NA 5 52 0 0 0.00116845 0 0 ZFP36 7538 broad.mit.edu 37 19 39899162 39899162 + Silent SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr19:39899162G>C uc002olh.1 + 2 862 c.804G>C c.(802-804)CTG>CTC p.L268L ZFP36_uc010egn.1_Missense_Mutation_p.W141S NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog 268 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGGGTGGCCTGGTTCGGACCC 0.677 NSCLC(67;1164 1324 12056 21056 30097) NA 6 54 0 0 0.00116845 0 0 CPT1C 126129 broad.mit.edu 37 19 50208490 50208490 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr19:50208490G>A uc002ppj.2 + 9 1104 c.899G>A c.(898-900)CGC>CAC p.R300H CPT1C_uc002ppl.3_Missense_Mutation_p.R266H|CPT1C_uc002ppi.2_Missense_Mutation_p.R217H|CPT1C_uc002ppk.2_Missense_Mutation_p.R289H|CPT1C_uc010eng.2_Missense_Mutation_p.R300H|CPT1C_uc010enh.2_Missense_Mutation_p.R300H|CPT1C_uc010ybc.1_Missense_Mutation_p.R171H|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 300 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) ATGGGAATGCGCCCCTTATGC 0.577 NA 17 128 0 0 0.00074312 0 0 ZNF835 90485 broad.mit.edu 37 19 57176150 57176150 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr19:57176150C>T uc010ygo.1 - 2 483 c.483G>A c.(481-483)GCG>GCA p.A161A ZNF835_uc010ygn.1_Silent_p.A139A NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 ACTCGGGGCACGCAAATGGCT 0.632 NA 38 73 0 0 0.00428921 0 0 MAP4K3 8491 broad.mit.edu 37 2 39514010 39514010 + Missense_Mutation SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr2:39514010C>G uc002rro.2 - 21 1661 c.1570G>C c.(1570-1572)GAA>CAA p.E524Q MAP4K3_uc002rrp.2_Missense_Mutation_p.E503Q|MAP4K3_uc010yns.1_Missense_Mutation_p.E77Q NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 524 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TCTTTCTTTTCTTTTCTTGAA 0.338 NA 15 54 0 0 0.00316338 0 0 C2orf86 51057 broad.mit.edu 37 2 63712095 63712095 + Missense_Mutation SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr2:63712095T>C uc002sch.2 - 5 726 c.280A>G c.(280-282)AAC>GAC p.N94D C2orf86_uc002sci.1_Missense_Mutation_p.N70D|C2orf86_uc010fcr.1_5'Flank NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 94 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 GGGCGTCTGTTTTTGAGCGTC 0.363 NA 5 82 0 0 0.00116845 0 0 CYP26B1 56603 broad.mit.edu 37 2 72360161 72360161 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr2:72360161G>A uc002sih.1 - 5 1137 c.1137C>T c.(1135-1137)TTC>TTT p.F379F CYP26B1_uc010yra.1_Silent_p.F362F|CYP26B1_uc010yrb.1_Silent_p.F304F NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 379 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 CATCAAGCTCGAAGGTCTGCA 0.662 NA 11 36 0 0 0.000673444 0 0 STEAP3 55240 broad.mit.edu 37 2 120003328 120003328 + Missense_Mutation SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr2:120003328G>C uc002tlp.2 + 3 413 c.256G>C c.(256-258)GTC>CTC p.V86L STEAP3_uc002tlq.2_Missense_Mutation_p.V96L|STEAP3_uc002tlr.2_Missense_Mutation_p.V86L|STEAP3_uc010fle.2_Missense_Mutation_p.V86L NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 86 Cytoplasmic (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 CTCCCCGGAGGTCATCTTTGT 0.592 NA 12 28 0 0 0.00136819 0 0 SCRT2 85508 broad.mit.edu 37 20 644541 644541 + Nonsense_Mutation SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr20:644541G>T uc002wec.2 - 2 1276 c.698C>A c.(697-699)TCG>TAG p.S233* SRXN1_uc002web.2_Intron NM_033129 NP_149120 Q9NQ03 SCRT2_HUMAN scratch 2 protein 233 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCGGTGTGCGAGCGCATGTG 0.692 NA 20 9 7.41877e-09 3.17236e-08 0.00188189 1 0 RSPH1 89765 broad.mit.edu 37 21 43896056 43896056 + Nonsense_Mutation SNP C C A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr21:43896056C>A uc002zbg.2 - 8 934 c.829G>T c.(829-831)GAG>TAG p.E277* NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 277 meiosis cytosol|nucleus ovary(1) 1 TCCCGGCTCTCTTCCCGGAGG 0.642 Esophageal Squamous(23;63 706 6286 10288 12913) NA 11 100 6.40141e-05 0.000267738 0.000978159 1 0 CRYBA4 1413 broad.mit.edu 37 22 27021529 27021529 + Silent SNP C C A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr22:27021529C>A uc003acz.3 + 4 278 c.243C>A c.(241-243)GGC>GGA p.G81G NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 81 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 ATGCCTGGGGCGGCAACACGG 0.632 NA 8 288 0.000157383 0.000653483 0.00307968 1 0 DEPDC5 9681 broad.mit.edu 37 22 32234733 32234733 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr22:32234733G>A uc003als.2 + 27 2532 c.2390G>A c.(2389-2391)CGT>CAT p.R797H DEPDC5_uc011als.1_Missense_Mutation_p.R728H|DEPDC5_uc011alu.1_Missense_Mutation_p.R806H|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R797H|DEPDC5_uc003alu.2_Missense_Mutation_p.R246H|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.R127H|DEPDC5_uc003alw.2_Missense_Mutation_p.R95H|DEPDC5_uc011alx.1_Intron NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 797 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 ATTTGCCAACGTCTCATGCAG 0.517 NA 15 539 0 0 0.00400662 0 0 ENTHD1 150350 broad.mit.edu 37 22 40217072 40217072 + Missense_Mutation SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr22:40217072G>T uc003ayg.2 - 5 1009 c.758C>A c.(757-759)GCA>GAA p.A253E NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 253 ovary(2)|skin(1) 3 Melanoma(58;0.0749) AGGAGGTGTTGCTAGTAAAGG 0.393 NA 19 50 1.87028e-06 7.87994e-06 0.00188189 1 0 PHF21B 112885 broad.mit.edu 37 22 45283868 45283868 + Nonsense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr22:45283868C>T uc003bfn.2 - 10 1323 c.1172G>A c.(1171-1173)TGG>TAG p.W391* PHF21B_uc003bfm.2_Nonsense_Mutation_p.W187*|PHF21B_uc011aqk.1_Nonsense_Mutation_p.W337*|PHF21B_uc011aql.1_Nonsense_Mutation_p.W349*|PHF21B_uc011aqm.1_3'UTR NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 391 PHD-type. zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GGGGCACACCCACACGCCCTT 0.697 NA 5 16 0 0 0.00198382 0 0 KCNH8 131096 broad.mit.edu 37 3 19436748 19436748 + Missense_Mutation SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:19436748G>C uc003cbk.1 + 7 1317 c.1122G>C c.(1120-1122)TGG>TGC p.W374C KCNH8_uc011awe.1_Missense_Mutation_p.W374C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.W5C NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 374 Helical; Name=Segment S5; (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CGTGTATCTGGTACGTCATTG 0.433 NSCLC(124;1625 1765 8018 24930 42026) NA 39 63 0 0 0.0025221 0 0 ULK4 54986 broad.mit.edu 37 3 41795941 41795941 + Missense_Mutation SNP A A C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:41795941A>C uc003ckv.3 - 22 2434 c.2233T>G c.(2233-2235)TCA>GCA p.S745A NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 745 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) ATGCATGTTGAGGGGCTGTCA 0.368 NA 7 82 0 0 0.00307968 0 0 PVRL3 25945 broad.mit.edu 37 3 110845158 110845158 + Missense_Mutation SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:110845158G>C uc003dxt.1 + 5 1045 c.1045G>C c.(1045-1047)GAC>CAC p.D349H PVRL3_uc003dxu.1_Missense_Mutation_p.D326H NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 349 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 TCAAAGAAGTGACCAAAAAGT 0.318 NA 10 48 0 0 0.000978159 0 0 KALRN 8997 broad.mit.edu 37 3 123983428 123983428 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:123983428C>T uc003ehg.2 + 4 468 c.341C>T c.(340-342)ACG>ATG p.T114M KALRN_uc010hrv.1_Missense_Mutation_p.T114M|KALRN_uc003ehf.1_Missense_Mutation_p.T114M|KALRN_uc011bjy.1_Missense_Mutation_p.T114M NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 114 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTCCTCAAAACGCTGCAGGAA 0.537 NA 25 24 0 0 0.00395357 0 0 SLC41A3 54946 broad.mit.edu 37 3 125786931 125786931 + Missense_Mutation SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:125786931C>G uc003eij.2 - 2 358 c.132G>C c.(130-132)GAG>GAC p.E44D SLC41A3_uc003eil.2_Missense_Mutation_p.E44D|SLC41A3_uc003eik.2_Missense_Mutation_p.E44D|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.E44D NM_001008485 NP_001008485 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 isoform 1 44 integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(114;0.167) CGCTTTGGCTCTCAGGGGCCC 0.627 NA 9 124 0 0 0.000442599 0 0 SGEF 26084 broad.mit.edu 37 3 153905608 153905608 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:153905608G>A uc011bog.1 + 7 1833 c.1622G>A c.(1621-1623)CGA>CAA p.R541Q SGEF_uc011boh.1_Missense_Mutation_p.R541Q NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 541 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TACCAACAACGAACACTACAA 0.323 NA 10 9 0 0 0.000978159 0 0 HTR3D 200909 broad.mit.edu 37 3 183756208 183756208 + Missense_Mutation SNP G G A rs113942045 TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:183756208G>A uc011bqv.1 + 7 931 c.931G>A c.(931-933)GCC>ACC p.A311T HTR3D_uc003fmj.2_Missense_Mutation_p.A136T|HTR3D_uc011bqu.1_Missense_Mutation_p.A261T|HTR3D_uc010hxp.2_Missense_Mutation_p.A90T NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 311 Helical; Name=3; (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGTCTACTTCGCCCTGTGCCT 0.592 NA 34 38 0 0 0.00283554 0 0 SDHAP1 255812 broad.mit.edu 37 3 195692311 195692311 + Missense_Mutation SNP T T C rs62282793 by1000genomes TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:195692311T>C uc003fvy.2 - 3 346 c.232A>G c.(232-234)AGC>GGC p.S78G SDHAP1_uc003fvx.3_RNA Homo sapiens full length insert cDNA clone ZC24D06. 0 TTCCCAGTGCTGACGTCCACA 0.607 Ovarian(67;1158 1227 12109 20189 43170) NA 4 11 0 0 0.000602214 0 0 SDHAP1 255812 broad.mit.edu 37 3 195692347 195692347 + Missense_Mutation SNP G G A rs62282794 by1000genomes TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:195692347G>A uc003fvy.2 - 3 310 c.196C>T c.(196-198)CAC>TAC p.H66Y SDHAP1_uc003fvx.3_RNA Homo sapiens full length insert cDNA clone ZC24D06. 0 TTCCTCCAGTGCTCCTCAAAG 0.572 Ovarian(67;1158 1227 12109 20189 43170) NA 7 15 0 0 0.000978159 0 0 SLIT2 9353 broad.mit.edu 37 4 20530615 20530615 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr4:20530615G>A uc003gpr.1 + 16 1710 c.1506G>A c.(1504-1506)GCG>GCA p.A502A SLIT2_uc003gps.1_Silent_p.A494A NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 502 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ACTGCTTTGCGGATCTGGCTT 0.393 NA 5 141 0 0 0.000602214 0 0 GABRA2 2555 broad.mit.edu 37 4 46334683 46334683 + Silent SNP G G C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr4:46334683G>C uc003gxc.3 - 3 877 c.204C>G c.(202-204)GTC>GTG p.V68V GABRA2_uc010igc.2_Silent_p.V68V|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Silent_p.V68V NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 68 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTTAGTGAAGACTTCAGTAA 0.358 NA 26 82 0 0 0.00395357 0 0 C4orf7 260436 broad.mit.edu 37 4 71099895 71099895 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr4:71099895C>T uc003hfd.2 + 4 334 c.249C>T c.(247-249)AGC>AGT p.S83S NM_152997 NP_694542 Q8NFU4 FDSCP_HUMAN chromosome 4 open reading frame 7 precursor 83 extracellular region central_nervous_system(1) 1 CCCTTCCTAGCGAAAAGTAAA 0.373 NA 16 42 0 0 0.00316338 0 0 INTU 27152 broad.mit.edu 37 4 128565010 128565010 + Missense_Mutation SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr4:128565010G>T uc003ifk.1 + 2 551 c.481G>T c.(481-483)GTG>TTG p.V161L INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 161 ovary(1) 1 ATACAAAGATGTGAATGTTTA 0.393 NA 49 42 9.52127e-25 4.26225e-24 0.00361006 1 0 PCDHB9 56127 broad.mit.edu 37 5 140568073 140568073 + Silent SNP A A G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr5:140568073A>G uc003liw.1 + 3 1182 c.1182A>G c.(1180-1182)AAA>AAG p.K394K NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 394 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTTTCTGAAACCGTCTGTTG 0.413 NA 3 89 0 0 6.4e-05 0 0 DOCK2 1794 broad.mit.edu 37 5 169472907 169472907 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr5:169472907C>T uc003maf.2 + 39 4044 c.3964C>T c.(3964-3966)CTG>TTG p.L1322L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L814L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1322 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCCAGAACCTGGTAAGGCA 0.592 NA 4 89 0 0 0.000602214 0 0 ZNF311 282890 broad.mit.edu 37 6 28963438 28963438 + Missense_Mutation SNP C C A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr6:28963438C>A uc003nlu.2 - 7 1854 c.1341G>T c.(1339-1341)CAG>CAT p.Q447H ZNF311_uc011dlk.1_Missense_Mutation_p.Q355H|ZNF311_uc003nlv.2_Missense_Mutation_p.Q355H NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 447 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 CTTTTCCACACTGGGGACACC 0.493 NA 8 170 5.4927e-09 2.36641e-08 0.000274275 1 0 OR12D2 26529 broad.mit.edu 37 6 29365367 29365367 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr6:29365367G>A uc003nmf.3 + 1 952 c.891G>A c.(889-891)AAG>AAA p.K297K NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGGAAGTGAAGGGGGCCTTGG 0.433 NA 5 124 0 0 0.00116845 0 0 STK38 11329 broad.mit.edu 37 6 36507865 36507865 + Nonsense_Mutation SNP C C A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr6:36507865C>A uc003omg.2 - 1 703 c.115G>T c.(115-117)GAA>TAA p.E39* STK38_uc003omh.2_Nonsense_Mutation_p.E39*|STK38_uc003omi.2_Nonsense_Mutation_p.E39* NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 39 intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 TCTCGTTCTTCATGTTGAGCG 0.378 Colon(180;997 3561 16158) NA 19 270 1.10513e-12 4.8339e-12 0.00229938 1 0 SHPRH 257218 broad.mit.edu 37 6 146262927 146262927 + Silent SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr6:146262927T>C uc003qlf.2 - 10 2721 c.2322A>G c.(2320-2322)GTA>GTG p.V774V SHPRH_uc003qld.2_Silent_p.V774V|SHPRH_uc003qle.2_Silent_p.V774V|SHPRH_uc003qlg.1_Silent_p.V330V|SHPRH_uc003qlj.1_Silent_p.V663V NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 774 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CTGAACGCAGTACATCATAGG 0.413 NA 46 46 0 0 0.00321405 0 0 AIMP2 7965 broad.mit.edu 37 7 6063250 6063250 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:6063250C>T uc003spo.2 + 4 1004 c.891C>T c.(889-891)GCC>GCT p.A297A EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR NM_006303 NP_006294 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting 297 GST C-terminal. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding ovary(1) 1 CAGTGCCAGCCAATGTGCAGA 0.522 NA 33 83 0 0 0.00327116 0 0 NPC1L1 29881 broad.mit.edu 37 7 44553240 44553240 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:44553240C>T uc003tlb.2 - 20 3942 c.3886G>A c.(3886-3888)GTT>ATT p.V1296I NPC1L1_uc003tlc.2_Missense_Mutation_p.V1269I|NPC1L1_uc011kbw.1_Missense_Mutation_p.V1223I|NPC1L1_uc003tla.2_3'UTR NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1296 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GCCGGGTTAACGTCAGGCCCT 0.612 NA 46 53 0 0 0.00361006 0 0 EGFR 1956 broad.mit.edu 37 7 55259524 55259524 + Missense_Mutation SNP T T A rs121913444 TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:55259524T>A uc003tqk.2 + 21 2828 c.2582T>A c.(2581-2583)CTG>CAG p.L861Q EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 861 Cytoplasmic (Potential).|Protein kinase. L -> Q (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGGCCAAACTGCTGGGTGCG 0.557 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 871 40 0 0 0.00361006 0 0 EPHB4 2050 broad.mit.edu 37 7 100403236 100403236 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:100403236G>A uc003uwn.1 - 15 3056 c.2565C>T c.(2563-2565)GAC>GAT p.D855D EPHB4_uc003uwm.1_Silent_p.D762D|EPHB4_uc010lhj.1_Silent_p.D855D NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 855 Cytoplasmic (Potential).|Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) TCTGCCAACAGTCCAGCATGA 0.632 GBM(200;2113 3072 25865 52728) NA 9 219 0 0 0.000442599 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106797681 106797681 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:106797681G>A uc003vdx.2 + 10 1210 c.1035G>A c.(1033-1035)TCG>TCA p.S345S NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 345 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 CTCGATGCTCGCGGGGACAGT 0.458 NA 38 42 0 0 0.00195071 0 0 SLC26A4 5172 broad.mit.edu 37 7 107335138 107335138 + Missense_Mutation SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:107335138T>C uc003vep.2 + 12 1638 c.1414T>C c.(1414-1416)TGG>CGG p.W472R SLC26A4_uc011kmb.1_Missense_Mutation_p.W59R|SLC26A4_uc011kmc.1_Missense_Mutation_p.W33R|SLC26A4_uc011kmd.1_Missense_Mutation_p.W41R NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 472 Extracellular (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TCCTCGTCTGTGGAGACAGAA 0.428 NA Pendred_syndrome 5 102 0 0 0.00198382 0 0 MET 4233 broad.mit.edu 37 7 116340099 116340099 + Missense_Mutation SNP T T C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:116340099T>C uc003vij.2 + 2 1148 c.961T>C c.(961-963)TAT>CAT p.Y321H MET_uc010lkh.2_Missense_Mutation_p.Y321H|MET_uc011knc.1_Missense_Mutation_p.Y321H|MET_uc011knd.1_Missense_Mutation_p.Y321H|MET_uc011kne.1_Missense_Mutation_p.Y321H|MET_uc011knf.1_Missense_Mutation_p.Y321H|MET_uc011kng.1_Missense_Mutation_p.Y321H|MET_uc011knh.1_Missense_Mutation_p.Y321H|MET_uc011kni.1_Missense_Mutation_p.Y321H|MET_uc003vii.1_Missense_Mutation_p.Y340H|MET_uc010lkg.2_Missense_Mutation_p.Y321H|MET_uc011kmz.1_Missense_Mutation_p.Y321H|MET_uc011kna.1_Missense_Mutation_p.Y321H|MET_uc011knb.1_Missense_Mutation_p.Y321H NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 321 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TCAGGCTGCGTATGTCAGCAA 0.453 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 3 94 0 0 6.4e-05 0 0 FAM3C 10447 broad.mit.edu 37 7 120990539 120990539 + Silent SNP T T A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:120990539T>A uc003vjx.2 - 10 908 c.660A>T c.(658-660)GGA>GGT p.G220G FAM3C_uc010lkm.2_Silent_p.G220G NM_014888 NP_055703 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 220 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity 0 all_neural(327;0.117) GGGGGATGCATCCTTCCATTT 0.368 NA 80 88 0 0 0.00361006 0 0 SMARCD3 6604 broad.mit.edu 37 7 150936506 150936506 + Silent SNP G G A rs139287814 TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr7:150936506G>A uc003wjs.2 - 12 1475 c.1374C>T c.(1372-1374)GCC>GCT p.A458A SMARCD3_uc003wjt.2_Silent_p.A445A|SMARCD3_uc003wju.2_Silent_p.A445A NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 458 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCGACTGACGGCCTCCTGGG 0.612 NA 27 48 0 0 0.001512 0 0 RP1L1 94137 broad.mit.edu 37 8 10468680 10468680 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:10468680C>T uc003wtc.2 - 4 3157 c.2928G>A c.(2926-2928)GCG>GCA p.A976A NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 976 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGGTCTCGTCCGCCAACTCAT 0.632 NA 27 12 0 0 0.00106085 0 0 PENK 5179 broad.mit.edu 37 8 57353979 57353979 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:57353979C>T uc003xsz.2 - 2 737 c.656G>A c.(655-657)CGC>CAC p.R219H PENK_uc003xta.3_Missense_Mutation_p.R219H NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 219 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCACTCTGGGCGACCTACTCT 0.532 NA 10 169 0 0 0.000442599 0 0 C8orf34 116328 broad.mit.edu 37 8 69434041 69434041 + Missense_Mutation SNP T T G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:69434041T>G uc010lyz.2 + 6 564 c.515T>G c.(514-516)GTG>GGG p.V172G C8orf34_uc010lyy.1_Missense_Mutation_p.V172G|C8orf34_uc003xyb.2_Missense_Mutation_p.V147G NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 172 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAGGAAACAGTGACATTTAAT 0.398 NA 8 13 0 0 0.00307968 0 0 CA2 760 broad.mit.edu 37 8 86392932 86392932 + Nonsense_Mutation SNP G G T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:86392932G>T uc003ydk.2 + 7 877 c.697G>T c.(697-699)GAG>TAG p.E233* NM_000067 NP_000058 P00918 CAH2_HUMAN carbonic anhydrase II 233 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(1) 1 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CTTCAATGGGGAGGGTGAACC 0.393 NA 28 119 1.17739e-12 5.11096e-12 0.000878237 1 0 CCNE2 9134 broad.mit.edu 37 8 95895049 95895049 + Missense_Mutation SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:95895049C>G uc003yhc.2 - 10 1012 c.903G>C c.(901-903)TTG>TTC p.L301F CCNE2_uc003yhd.2_Missense_Mutation_p.L301F NM_057749 NP_477097 O96020 CCNE2_HUMAN cyclin E2 301 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding 0 Breast(36;8.75e-07) TAAAATGGCACAAGGCAGCAG 0.383 NA 42 197 0 0 0.00285205 0 0 C8orf47 203111 broad.mit.edu 37 8 99101611 99101611 + Silent SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:99101611G>A uc003yih.1 + 2 514 c.366G>A c.(364-366)GAG>GAA p.E122E NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 122 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GTGGCAAAGAGGATGCCCCAG 0.557 NA 11 147 0 0 0.000978159 0 0 WDR67 93594 broad.mit.edu 37 8 124156985 124156985 + Missense_Mutation SNP G G A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:124156985G>A uc003ypp.1 + 20 2954 c.2864G>A c.(2863-2865)CGT>CAT p.R955H WDR67_uc011lig.1_Missense_Mutation_p.R859H|WDR67_uc011lih.1_Missense_Mutation_p.R845H|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R589H|WDR67_uc003ypt.1_Missense_Mutation_p.R347H|WDR67_uc003ypu.1_Missense_Mutation_p.R347H NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 955 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AAAGAGTTCCGTTTGAGATCA 0.358 NA 54 24 0 0 0.00361006 0 0 FAM135B 51059 broad.mit.edu 37 8 139189617 139189617 + Missense_Mutation SNP A A C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:139189617A>C uc003yuy.2 - 11 1247 c.1076T>G c.(1075-1077)CTT>CGT p.L359R FAM135B_uc003yux.2_Missense_Mutation_p.L260R|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 359 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGGACTGCAAGTTTTTGGTG 0.418 NA HNSCC(54;0.14) 4 76 0 0 0.00024832 0 0 EIF2C2 27161 broad.mit.edu 37 8 141559311 141559311 + Missense_Mutation SNP C C G TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:141559311C>G uc003yvn.2 - 12 1530 c.1490G>C c.(1489-1491)GGG>GCG p.G497A EIF2C2_uc010men.2_Missense_Mutation_p.G420A|EIF2C2_uc010meo.2_Missense_Mutation_p.G497A NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 497 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) GCTGTCCGCCCCCTGCGCGTA 0.637 NA 6 71 0 0 0.00198382 0 0 OPLAH 26873 broad.mit.edu 37 8 145111554 145111554 + Missense_Mutation SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:145111554C>T uc003zar.3 - 13 1893 c.1811G>A c.(1810-1812)CGT>CAT p.R604H OPLAH_uc003zas.1_5'Flank NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 604 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GTCCCCCGCACGGGGCGAGCG 0.667 NA 6 58 0 0 0.00307968 0 0 WWC3 55841 broad.mit.edu 37 X 10062261 10062261 + Silent SNP C C T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chrX:10062261C>T uc004csx.3 + 7 795 c.597C>T c.(595-597)GGC>GGT p.G199G WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 199 ovary(4) 4 GCGTGCCTGGCGATGCTGGTG 0.592 NA 7 107 0 0 0.00307968 0 0 ODZ1 10178 broad.mit.edu 37 X 123587298 123587298 + Silent SNP C C A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chrX:123587298C>A uc004euj.2 - 22 4036 c.3972G>T c.(3970-3972)GGG>GGT p.G1324G ODZ1_uc011muj.1_Silent_p.G1330G|ODZ1_uc010nqy.2_Silent_p.G1331G NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1324 NHL 2.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GAATCATAGTCCCATCCACAA 0.428 NA 15 43 2.62699e-14 1.1579e-13 0.00316338 1 0 RB1 5925 broad.mit.edu 37 13 48916758 48916758 + Frame_Shift_Del DEL G G - TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr13:48916758delG uc001vcb.2 + 3 454 c.288delG c.(286-288)AAGfs p.K96fs RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 96 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(4) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAAAGAAAAAGGAACTGTGGG 0.313 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 161 22 --- --- --- --- NA NA NA NA NA ATAD5 79915 broad.mit.edu 37 17 29162473 29162474 + Frame_Shift_Ins INS - - C TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr17:29162473_29162474insC uc002hfs.1 + 2 1720_1721 c.1374_1375insC c.(1372-1377)AATGGCfs p.N458fs ATAD5_uc002hft.1_Frame_Shift_Ins_p.N355fs NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 458_459 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TTTCAAAAAATGGCAATTTACA 0.302 NA 30 76 --- --- --- --- NA NA NA NA NA POMC 5443 broad.mit.edu 37 2 25384456 25384457 + In_Frame_Ins INS - - GCCGCTGCT rs10654394 byFrequency TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr2:25384456_25384457insGCCGCTGCT uc002rfy.1 - 4 560_561 c.297_298insAGCAGCGGC c.(295-300)insAGCAGCGGC p.99_100insSSG POMC_uc002rfz.1_In_Frame_Ins_p.99_100insSSG|POMC_uc002rga.1_In_Frame_Ins_p.99_100insSSG NM_001035256 NP_001030333 P01189 COLI_HUMAN proopiomelanocortin preproprotein 99_100 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTCTGCCCTGCgccgctgctgc 0.624 Colon(110;1515 1566 8452 10082 43216) NA 3 4 --- --- --- --- NA NA NA NA NA MYH9 4627 broad.mit.edu 37 22 36708256 36708257 + Frame_Shift_Ins INS - - G rs145517108 byFrequency TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr22:36708256_36708257insG uc003apg.2 - 14 1796_1797 c.1565_1566insC c.(1564-1566)CCGfs p.P522fs MYH9_uc003aph.1_Frame_Shift_Ins_p.P386fs NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 522 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CCAGAATGCCCGGGGGGCCTGC 0.639 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 14 200 --- --- --- --- NA NA NA NA NA LPP 4026 broad.mit.edu 37 3 188124020 188124024 + Frame_Shift_Del DEL ACACA ACACA - rs149742671 byFrequency TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 ACACA ACACA - - ACACA ACACA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr3:188124020_188124024delACACA uc003frs.1 + 3 358_362 c.112_116delACACA c.(112-117)ACACAAfs p.T38fs LPP_uc011bsg.1_Frame_Shift_Del_p.T38fs|LPP_uc011bsi.1_Frame_Shift_Del_p.T38fs|LPP_uc003frt.2_Frame_Shift_Del_p.T38fs NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 38_39 cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TTCAGTGTCTACACAACAGCCACCC 0.527 NA T HMGA2|MLL|C12orf9 lipoma|leukemia 28 151 --- --- --- --- NA NA NA NA NA CHD7 55636 broad.mit.edu 37 8 61714143 61714143 + Frame_Shift_Del DEL A A - TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:61714143delA uc003xue.2 + 6 2910 c.2433delA c.(2431-2433)GTAfs p.V811fs NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 811 Chromo 1. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GTCGTTCAGTAAAAAAGCAGG 0.348 NA 2 4 --- --- --- --- NA NA NA NA NA WDR67 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr8:124140520_124140521insT uc003ypp.1 + 14 1975 c.1885_splice c.e14-1 p.F629_splice WDR67_uc011lig.1_Splice_Site_p.F629_splice|WDR67_uc011lih.1_Splice_Site_p.F519_splice|WDR67_uc003ypq.1_Splice_Site|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Splice_Site_p.F86_splice|WDR67_uc003ypu.1_Splice_Site_p.F86_splice NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TTTTCTTACAGTTTTTTTTTCA 0.322 NA 7 146 --- --- --- --- NA NA NA NA NA COQ4 51117 broad.mit.edu 37 9 131094439 131094439 + Frame_Shift_Del DEL C C - TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 020fab36-c7de-4933-b2bf-dc7b019a1326 b9542378-b8c6-4c0a-a0db-456396a45554 g.chr9:131094439delC uc004bur.3 + 5 757 c.410delC c.(409-411)TCCfs p.S137fs COQ4_uc004bus.2_Frame_Shift_Del_p.S113fs|COQ4_uc010mxy.2_Frame_Shift_Del_p.S113fs NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 137 ubiquinone biosynthetic process mitochondrial inner membrane 0 CAGAGGGTCTCCCCAGACACC 0.587 NA 2 4 --- --- --- --- NA NA NA NA NA