Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample NOC2L 26155 broad.mit.edu 37 1 880925 880925 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:880925C>T uc001abz.3 - 17 2085 c.2026G>A c.(2026-2028)GAC>AAC p.D676N NOC2L_uc001aby.3_Missense_Mutation_p.D473N|NOC2L_uc009vjq.2_Missense_Mutation_p.D676N NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 676 Asp/Glu-rich (acidic). nucleolus protein binding ovary(1)|skin(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCGGTGTCGTCCTCTTCAGAG 0.577 NaN 0 0 0 0.012319 0 21 51 TP73 7161 broad.mit.edu 37 1 3624302 3624302 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:3624302C>T uc001akp.2 + 4 486 c.376C>T c.(376-378)CAC>TAC p.H126Y TP73_uc001akq.2_Missense_Mutation_p.H126Y|TP73_uc010nzj.1_Missense_Mutation_p.H77Y|TP73_uc001akr.2_Missense_Mutation_p.H77Y|TP73_uc009vlk.1_Missense_Mutation_p.H77Y|TP73_uc001aks.2_Missense_Mutation_p.H77Y|TP73_uc009vll.2_Missense_Mutation_p.H55Y|TP73_uc010nzk.1_Missense_Mutation_p.H55Y NM_005427 NP_005418 O15350 P73_HUMAN tumor protein p73 isoform a 126 cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity ovary(1)|lung(1) 2 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CGGACCCCACCACTTTGAGGT 0.557 NaN 0 0 0 0.00499 0 16 59 TNFRSF25 8718 broad.mit.edu 37 1 6524508 6524508 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:6524508G>A uc001ane.2 - 5 557 c.469C>T c.(469-471)CGC>TGC p.R157C TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_Intron|TNFRSF25_uc001anf.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ang.2_Missense_Mutation_p.R112C|TNFRSF25_uc001anh.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ani.1_Missense_Mutation_p.R157C NM_003790 NP_003781 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, 157 TNFR-Cys 3.|Extracellular (Potential). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity central_nervous_system(2)|breast(1) 3 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) GTATCTCTGCGGGAACCTGCA 0.607 NaN 0 0 0 0.013537 0 11 6 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:12887606C>G uc001auk.2 - 3 447 c.251G>C c.(250-252)TGC>TCC p.C84S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 84 0 ATTGAGGAAGCACCCATGGGC 0.483 NaN 0 0 0 0.014758 0 4 356 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:12887612T>C uc001auk.2 - 3 441 c.245A>G c.(244-246)CAT>CGT p.H82R NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 82 0 GAAGCACCCATGGGCCATAGC 0.488 NaN 0 0 0 0.001168 0 5 358 PRDM2 7799 broad.mit.edu 37 1 14106203 14106203 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:14106203A>G uc001avi.2 + 8 2769 c.1913A>G c.(1912-1914)AAG>AGG p.K638R PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K638R|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.K395R|PRDM2_uc001avk.2_Missense_Mutation_p.K437R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 638 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GAGGCCAAGAAGCGGAGAACT 0.473 NaN 0 0 0 0.001984 0 7 29 EPHA2 1969 broad.mit.edu 37 1 16475491 16475491 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:16475491C>A uc001aya.1 - 3 342 c.205G>T c.(205-207)GTG>TTG p.V69L EPHA2_uc010oca.1_Missense_Mutation_p.V69L NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 69 Extracellular (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACGTTGCACACGGAGTACATG 0.537 NaN 1 0 2.55665e-31 0.01441 2.99182e-31 44 42 RCC2 55920 broad.mit.edu 37 1 17738662 17738662 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:17738662C>T uc001bal.2 - 10 1389 c.1342G>A c.(1342-1344)GAG>AAG p.E448K RCC2_uc001bam.2_Missense_Mutation_p.E448K NM_001136204 NP_001129676 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 448 RCC1 7. cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle 0 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) ATGGTGCTCTCATCGGCGGCC 0.622 NaN 0 0 0 0.009718 0 39 40 ACTL8 81569 broad.mit.edu 37 1 18152535 18152535 + Nonsense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:18152535C>T uc001bat.2 + 3 838 c.622C>T c.(622-624)CAG>TAG p.Q208* NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 208 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CGCCGTGACTCAGATGAACAA 0.562 NaN OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009535 0 32 17 TMCO4 255104 broad.mit.edu 37 1 20107204 20107204 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:20107204C>T uc001bcn.2 - 4 290 c.48G>A c.(46-48)CTG>CTA p.L16L TMCO4_uc001bcm.2_Silent_p.L16L|TMCO4_uc001bco.1_Silent_p.L16L|TMCO4_uc001bcp.1_Silent_p.L16L|TMCO4_uc009vpn.1_Silent_p.L16L|TMCO4_uc001bcq.1_Silent_p.L16L NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 16 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GCTCAGCTACCAGAGGCTGCT 0.532 NaN 0 0 0 0.010504 0 19 18 HSPG2 3339 broad.mit.edu 37 1 22165877 22165877 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:22165877G>A uc001bfj.2 - 73 9916 c.9876C>T c.(9874-9876)ATC>ATT p.I3292I HSPG2_uc009vqd.2_Silent_p.I3293I NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3292 Ig-like C2-type 18. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCACGTGCAGGATGATGGTGG 0.597 NaN 0 0 0 0.015359 0 32 24 ASAP3 55616 broad.mit.edu 37 1 23782407 23782407 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:23782407G>A uc001bha.2 - 3 439 c.315C>T c.(313-315)TTC>TTT p.F105F ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Silent_p.F105F|ASAP3_uc001bhc.1_Silent_p.F105F NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 105 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CCTCGCGGGTGAACACGGCCA 0.557 NaN 0 0 0 0.01441 0 93 46 GALE 2582 broad.mit.edu 37 1 24124627 24124627 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:24124627C>G uc009vqo.1 - 4 541 c.331G>C c.(331-333)GGG>CGG p.G111R GALE_uc001bhv.1_Missense_Mutation_p.G111R|GALE_uc001bhw.1_Missense_Mutation_p.G111R|GALE_uc001bhx.1_Missense_Mutation_p.G111R|GALE_uc009vqp.1_Missense_Mutation_p.G111R|GALE_uc001bhy.1_Missense_Mutation_p.G111R|GALE_uc001bhz.1_Missense_Mutation_p.G37R|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR NM_001127621 NP_001121093 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 111 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TGGATGGTCCCGGTCAGGTTA 0.592 NaN 0 0 0 0.010729 0 10 109 C1orf130 400746 broad.mit.edu 37 1 24932122 24932122 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:24932122G>A uc001bjk.1 + 4 259 c.193G>A c.(193-195)GAG>AAG p.E65K NM_001010980 NP_001010980 Q5T1S8 CA130_HUMAN chromosome 1 open reading frame 130 65 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144) GCGGGAACTAGAGCCCAAGGG 0.587 NaN 0 0 0 0.01441 0 51 29 C1orf135 79000 broad.mit.edu 37 1 26161564 26161564 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:26161564C>T uc001bkw.1 - 3 994 c.994G>A c.(994-996)GGG>AGG p.G332R NM_024037 NP_076942 Q9H7T9 CA135_HUMAN aurora A-binding protein 332 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) TGAGTTGGCCCATCCTCCTGG 0.443 NaN 0 0 0 0.017118 0 35 492 LIN28A 79727 broad.mit.edu 37 1 26752761 26752761 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:26752761C>T uc001bmj.2 + 4 556 c.442C>T c.(442-444)CAT>TAT p.H148Y LIN28A_uc001bmi.1_RNA NM_024674 NP_078950 Q9H9Z2 LN28A_HUMAN lin-28 homolog 148 CCHC-type 1. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1) 1 TCTAGATCATCATGCCAAGGA 0.423 NaN 0 0 0 0.01892 0 21 65 SFN 2810 broad.mit.edu 37 1 27189796 27189796 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:27189796G>C uc001bnc.1 + 1 164 c.93G>C c.(91-93)GAG>GAC p.E31D uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 31 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) GCGCCGTGGAGAAGGGCGAGG 0.607 NaN 0 0 0 0.013537 0 13 114 FAM46B 115572 broad.mit.edu 37 1 27332436 27332436 + Nonstop_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:27332436C>G uc010ofj.1 - 2 1449 c.1277G>C c.(1276-1278)TGA>TCA p.*426S NM_052943 NP_443175 Q96A09 FA46B_HUMAN hypothetical protein LOC115572 426 central_nervous_system(1) 1 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GGGTCTGAGTCAGTTACAAGG 0.622 NaN 0 0 0 0.01441 0 81 54 XKR8 55113 broad.mit.edu 37 1 28290197 28290197 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:28290197C>T uc001bph.1 + 2 560 c.483C>T c.(481-483)TAC>TAT p.Y161Y NM_018053 NP_060523 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related 161 Helical; (Potential). integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) GGGCTGAGTACTACCAGTGTG 0.567 NaN 0 0 0 0.010729 0 12 4 PHACTR4 65979 broad.mit.edu 37 1 28800272 28800272 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:28800272T>C uc001bpw.2 + 7 1312 c.1030T>C c.(1030-1032)TCC>CCC p.S344P PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S328P|PHACTR4_uc001bpy.2_Missense_Mutation_p.S354P NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 344 Pro-rich. actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACT 0.512 NaN 0 0 0 0.014758 0 4 301 YTHDF2 51441 broad.mit.edu 37 1 29095440 29095440 + Splice_Site SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:29095440G>A uc001brc.2 + 5 2214 c.1717_splice c.e5-1 p.E573_splice YTHDF2_uc001brd.2_Splice_Site_p.E570_splice|YTHDF2_uc010ofx.1_Splice_Site_p.E523_splice|YTHDF2_uc001bre.2_Splice_Site_p.E523_splice NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TACCTCTGTAGGAACGTCAAG 0.328 NaN 0 0 0 0.001168 0 5 20 CSMD2 114784 broad.mit.edu 37 1 34238233 34238233 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:34238233C>G uc001bxn.1 - 13 1692 c.1663G>C c.(1663-1665)GGA>CGA p.G555R CSMD2_uc001bxm.1_Missense_Mutation_p.G595R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 555 Sushi 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCCTTCTGTCCCACCAGCTCA 0.577 NaN 0 0 0 0.001168 0 5 101 CAP1 10487 broad.mit.edu 37 1 40525754 40525754 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:40525754A>G uc001cfa.3 + 3 357 c.128A>G c.(127-129)TAT>TGT p.Y43C CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.Y43C|CAP1_uc001cez.3_Missense_Mutation_p.Y43C|CAP1_uc009vvz.2_Missense_Mutation_p.Y43C|CAP1_uc010oje.1_Missense_Mutation_p.M13V NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 43 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCAGCTCCATATGTGCAGGCA 0.458 NaN 0 0 0 0.016522 0 22 26 KIAA0494 9813 broad.mit.edu 37 1 47181986 47181986 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:47181986G>A uc001cqk.3 - 2 1292 c.315C>T c.(313-315)CTC>CTT p.L105L KIAA0494_uc010omh.1_Silent_p.L105L|KIAA0494_uc001cql.1_Silent_p.L105L NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 105 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) ATTTTTCCTTGAGGGCATCCA 0.338 NaN 0 0 0 0.008291 0 11 27 LEPR 3953 broad.mit.edu 37 1 66102578 66102578 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:66102578T>C uc001dci.2 + 20 3580 c.3378T>C c.(3376-3378)AAT>AAC p.N1126N LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1126 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTGTAGAAAATAATATCAACT 0.403 NaN 0 0 0 0.001168 0 5 22 ANKRD34A 284615 broad.mit.edu 37 1 145474162 145474162 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:145474162G>T uc001enq.1 + 4 2127 c.834G>T c.(832-834)CTG>CTT p.L278L NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 278 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCAATGGCCTGACCCTGACCG 0.652 NaN 1 0 7.41877e-09 0.012319 8.30601e-09 22 41 UBAP2L 9898 broad.mit.edu 37 1 154224128 154224128 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:154224128A>G uc001fep.3 + 14 1830 c.1663A>G c.(1663-1665)AGT>GGT p.S555G UBAP2L_uc009wot.2_Missense_Mutation_p.S555G|UBAP2L_uc010pek.1_Missense_Mutation_p.S547G|UBAP2L_uc010pel.1_Missense_Mutation_p.S565G|UBAP2L_uc010pen.1_Missense_Mutation_p.S469G NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 555 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGCACGGCCAGGTAGAGGAA 0.493 NaN 0 0 0 0.010818 0 31 225 LMNA 4000 broad.mit.edu 37 1 156100457 156100457 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:156100457G>A uc001fni.2 + 2 655 c.406G>A c.(406-408)GAC>AAC p.D136N LMNA_uc001fnf.1_Missense_Mutation_p.D136N|LMNA_uc001fng.2_Missense_Mutation_p.D136N|LMNA_uc001fnh.2_Missense_Mutation_p.D136N|LMNA_uc009wro.1_Missense_Mutation_p.D136N|LMNA_uc010pgz.1_Missense_Mutation_p.D24N|LMNA_uc001fnj.2_Missense_Mutation_p.D55N|LMNA_uc001fnk.2_Missense_Mutation_p.D37N NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 136 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) TCGGCTGAAGGACCTGGAGGC 0.572 NaN Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome OREG0013866 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 72 28 PRCC 5546 broad.mit.edu 37 1 156756616 156756616 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:156756616A>G uc001fqa.2 + 3 1023 c.733A>G c.(733-735)ATC>GTC p.I245V PRCC_uc001fqb.2_Missense_Mutation_p.I245V NM_005973 NP_005964 Q92733 PRCC_HUMAN papillary renal cell carcinoma 245 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) kidney(25)|central_nervous_system(2) 27 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCCTCTGCTATCAAGGCTGC 0.552 NaN T TFE3 papillary renal 0 0 0 0.010729 0 9 23 FCGR3A 2214 broad.mit.edu 37 1 161512834 161512834 + Missense_Mutation SNP A A G rs1042208 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:161512834A>G uc001gat.3 - 6 870 c.733T>C c.(733-735)TTT>CTT p.F245L FCGR3A_uc001gar.2_Missense_Mutation_p.F281L|FCGR3A_uc001gas.2_Missense_Mutation_p.F280L|FCGR3A_uc009wuh.2_Missense_Mutation_p.F244L|FCGR3A_uc009wui.2_Missense_Mutation_p.F245L NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 245 Cytoplasmic (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCCATTTAAATTTATGGTCC 0.443 NaN 0 0 0 0.010729 0 4 205 DCAF6 55827 broad.mit.edu 37 1 167906233 167906233 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:167906233G>A uc001gew.2 + 1 326 c.84G>A c.(82-84)CGG>CGA p.R28R BRP44_uc001ges.2_5'Flank|BRP44_uc001get.2_5'UTR|BRP44_uc001geu.2_Intron|BRP44_uc009wvn.2_5'Flank|DCAF6_uc001gev.2_Silent_p.R28R|DCAF6_uc001gex.2_Silent_p.R28R|DCAF6_uc010plk.1_Silent_p.R28R NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 28 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 CCCGGCTGCGGAGTCGATACC 0.711 NaN 0 0 0 0.020292 0 11 17 F5 2153 broad.mit.edu 37 1 169519105 169519105 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:169519105G>A uc001ggg.1 - 10 1690 c.1545C>T c.(1543-1545)ATC>ATT p.I515I F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 515 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GCCCAGAGGCGATGTCTCTCA 0.423 NaN 0 0 0 0.008291 0 9 48 SCYL3 57147 broad.mit.edu 37 1 169845137 169845137 + Silent SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:169845137A>C uc001ggs.2 - 4 645 c.447T>G c.(445-447)GTT>GTG p.V149V SCYL3_uc001ggt.2_Silent_p.V149V|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 149 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGCCTGAGAAACTTTACAAA 0.463 NaN 0 0 0 0.009096 0 3 41 RASAL2 9462 broad.mit.edu 37 1 178269155 178269155 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:178269155A>G uc001glq.2 + 3 1123 c.359A>G c.(358-360)CAG>CGG p.Q120R RASAL2_uc009wxb.2_Missense_Mutation_p.Q120R NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 2 Error:Variant_position_missing_in_Q9UJF2_after_alignment negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity p.E120*(1) ovary(2)|breast(2)|large_intestine(1) 5 CAGGAGCAGCAGACAGATTCC 0.478 NaN OREG0014010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016522 0 23 29 KIF21B 23046 broad.mit.edu 37 1 200954055 200954055 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:200954055C>T uc001gvs.1 - 27 4052 c.3735G>A c.(3733-3735)CGG>CGA p.R1245R KIF21B_uc001gvr.1_Silent_p.R1245R|KIF21B_uc009wzl.1_Silent_p.R1245R|KIF21B_uc010ppn.1_Silent_p.R1245R NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1245 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CATTGCGGGGCCGAGTGGGAG 0.627 NaN 0 0 0 0.010504 0 20 41 NAV1 89796 broad.mit.edu 37 1 201779122 201779122 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:201779122G>C uc001gwu.2 + 22 4788 c.4441G>C c.(4441-4443)GAG>CAG p.E1481Q NAV1_uc001gwx.2_Missense_Mutation_p.E1090Q NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1484 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 ACTAAGCACTGAGTCCATCCA 0.478 NaN 0 0 0 0.021523 0 25 43 TIMM17A 10440 broad.mit.edu 37 1 201932815 201932815 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:201932815G>A uc001gxc.2 + 4 298 c.262G>A c.(262-264)GAT>AAT p.D88N NM_006335 NP_006326 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 88 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity 0 AGGAAAGGAAGATCCCTGGAA 0.418 NaN 0 0 0 0.00499 0 18 20 CNIH3 149111 broad.mit.edu 37 1 224922305 224922305 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:224922305G>A uc001hos.1 + 5 1050 c.352G>A c.(352-354)GAC>AAC p.D118N NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 118 Cytoplasmic (Potential). intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane 0 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) ACTAGCCTACGACCCACCGGT 0.517 NaN 0 0 0 0.008361 0 29 41 C1orf55 163859 broad.mit.edu 37 1 226175920 226175920 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:226175920C>T uc001hpu.3 - 6 864 c.811G>A c.(811-813)GTA>ATA p.V271I C1orf55_uc001hpv.2_Missense_Mutation_p.V271I NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 271 lung(1) 1 Breast(184;0.197) GTATTCACTACTCTCGCCCTC 0.502 NaN 0 0 0 0.004656 0 22 159 CABC1 56997 broad.mit.edu 37 1 227152913 227152913 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:227152913C>T uc001hqm.1 + 8 3809 c.390C>T c.(388-390)TTC>TTT p.F130F CABC1_uc010pvp.1_Silent_p.F93F|CABC1_uc001hqn.1_Silent_p.F130F|CABC1_uc009xeq.1_Silent_p.F78F|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 130 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) AAGCCGGGTTCCCCGGCCAGG 0.657 NaN 0 0 0 0.00499 0 16 28 PLD5 200150 broad.mit.edu 37 1 242383325 242383325 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:242383325C>A uc001hzn.1 - 5 827 c.700G>T c.(700-702)GGC>TGC p.G234C PLD5_uc001hzl.3_Missense_Mutation_p.G172C|PLD5_uc001hzm.3_Missense_Mutation_p.G24C|PLD5_uc001hzo.1_Missense_Mutation_p.G142C Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 234 PLD phosphodiesterase 1. integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CCGGCACTGCCGATATACACG 0.517 NaN 1 0 4.7546e-09 0.004007 5.35045e-09 15 25 OR2L8 391190 broad.mit.edu 37 1 248112660 248112660 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:248112660T>C uc001idt.1 + 1 501 c.501T>C c.(499-501)TAT>TAC p.Y167Y OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATATTCCTTATTGCCGATCCA 0.473 NaN 0 0 0 0.007291 0 26 92 OR2L3 391192 broad.mit.edu 37 1 248224484 248224484 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:248224484T>C uc001idx.1 + 1 501 c.501T>C c.(499-501)TAT>TAC p.Y167Y OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATATTCCTTATTGCCAATCCA 0.463 NaN 0 0 0 0.00499 0 9 61 ARHGAP21 57584 broad.mit.edu 37 10 24880173 24880173 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:24880173G>A uc001isb.2 - 24 4618 c.4131C>T c.(4129-4131)GTC>GTT p.V1377V ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1376 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 CTCCTGGGGAGACTCCTGTCC 0.438 NaN 0 0 0 0.01441 0 75 84 LRRTM3 347731 broad.mit.edu 37 10 68688007 68688007 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:68688007T>C uc001jmz.1 + 2 1883 c.1333T>C c.(1333-1335)TAC>CAC p.Y445H CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.Y445H NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 445 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 ATGGAAGCGGTACCCTGCGAG 0.552 NaN 0 0 0 0.007413 0 18 57 CDHR1 92211 broad.mit.edu 37 10 85973933 85973933 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:85973933C>T uc001kcv.2 + 17 2136 c.2136C>T c.(2134-2136)GTC>GTT p.V712V CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.V416V|CDHR1_uc001kcx.2_Silent_p.V26V NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 712 Helical; (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 TGGCCACCGTCGTGGCCATCA 0.637 NaN 0 0 0 0.012319 0 22 55 PTEN 5728 broad.mit.edu 37 10 89717673 89717673 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:89717673G>A uc001kfb.2 + 8 1729 c.698G>A c.(697-699)CGA>CAA p.R233Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233R(1)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.G165_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACCCACACGACGGGAAGAC 0.423 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 0 0 0 0.006122 0 17 44 CALHM2 51063 broad.mit.edu 37 10 105209283 105209283 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:105209283G>A uc001kwz.2 - 2 802 c.416C>T c.(415-417)TCC>TTC p.S139F CALHM2_uc001kxa.2_Missense_Mutation_p.S139F|CALHM2_uc001kxc.2_Missense_Mutation_p.S139F|CALHM2_uc001kxb.2_Missense_Mutation_p.S139F|CALHM2_uc001kxd.1_Missense_Mutation_p.S139F NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 139 integral to membrane skin(1) 1 CGTGAGTGAGGAAGGGTCCAC 0.597 NaN 0 0 0 0.016522 0 23 49 TACC2 10579 broad.mit.edu 37 10 123845774 123845774 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:123845774G>A uc001lfv.2 + 4 4119 c.3759G>A c.(3757-3759)GTG>GTA p.V1253V TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.V1253V|TACC2_uc010qtv.1_Silent_p.V1253V NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1253 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACAGTGGAGTGAAAGCTGTTT 0.592 NaN 0 0 0 0.005524 0 36 54 MUC6 4588 broad.mit.edu 37 11 1024858 1024858 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1024858T>G uc001lsw.2 - 24 3262 c.3211A>C c.(3211-3213)ACC>CCC p.T1071P NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1071 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGTGGCAGGTGGCAAAGGTC 0.687 NaN 0 0 0 0.00308 0 5 18 MUC6 4588 broad.mit.edu 37 11 1027765 1027765 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1027765G>A uc001lsw.2 - 16 1952 c.1901C>T c.(1900-1902)GCC>GTC p.A634V NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 634 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCAGGGCGGCACAGATGTG 0.662 NaN 0 0 0 0.008291 0 10 4 MUC6 4588 broad.mit.edu 37 11 1028662 1028662 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1028662G>A uc001lsw.2 - 13 1626 c.1575C>T c.(1573-1575)TTC>TTT p.F525F NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 525 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTGACCTCTGAACTGGGGCC 0.627 NaN 0 0 0 0.006214 0 9 3 MUC2 4583 broad.mit.edu 37 11 1083168 1083168 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1083168G>C uc001lsx.1 + 16 2095 c.2068G>C c.(2068-2070)GAG>CAG p.E690Q NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 690 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCACTGTCTCGAGGGCTTTGC 0.662 NaN 0 0 0 0.006122 0 14 17 PARVA 55742 broad.mit.edu 37 11 12525871 12525871 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:12525871C>T uc001mki.2 + 6 601 c.552C>T c.(550-552)GCC>GCT p.A184A PARVA_uc010rck.1_Silent_p.A131A NM_018222 NP_060692 Q9NVD7 PARVA_HUMAN parvin, alpha 184 CH 1. cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3) 3 Epithelial(150;0.00624) CTGTTCATGCCAAGAGCCTGG 0.458 NaN 0 0 0 0.003163 0 15 7 AMBRA1 55626 broad.mit.edu 37 11 46419037 46419037 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:46419037T>C uc010rgu.1 - 18 4220 c.3860A>G c.(3859-3861)GAC>GGC p.D1287G AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.D1258G|AMBRA1_uc001ncu.1_Missense_Mutation_p.D1197G|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1290G|AMBRA1_uc001ncw.2_Missense_Mutation_p.D1168G|AMBRA1_uc001ncx.2_Missense_Mutation_p.D1227G NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 1287 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GCCTGCAGCGTCCCCCCTGCT 0.602 NaN 0 0 0 0.009096 0 3 79 LRP4 4038 broad.mit.edu 37 11 46920516 46920516 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:46920516G>A uc001ndn.3 - 6 761 c.615C>T c.(613-615)CTC>CTT p.L205L LRP4_uc009ylh.1_Silent_p.L156L NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 205 Extracellular (Potential).|LDL-receptor class A 5. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GGTAGATGTCGAGGATGCAGC 0.642 NaN 0 0 0 0.008871 0 20 10 PTPMT1 114971 broad.mit.edu 37 11 47587500 47587500 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:47587500G>A uc001nfs.3 + 2 410 c.217G>A c.(217-219)GAG>AAG p.E73K PTPMT1_uc001nfv.3_Missense_Mutation_p.R109Q|PTPMT1_uc009ylt.2_Missense_Mutation_p.E73K|PTPMT1_uc001nfu.3_Missense_Mutation_p.R109Q|NDUFS3_uc001nft.3_5'UTR NM_175732 NP_783859 Q8WUK0 PTPM1_HUMAN protein tyrosine phosphatase, mitochondrial 1 73 inositol phosphate dephosphorylation mitochondrial inner membrane phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(1) 1 CACCATGAACGAGGAGTACGA 0.677 NaN 0 0 0 0.010504 0 15 20 MAP4K2 5871 broad.mit.edu 37 11 64570095 64570095 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:64570095A>G uc001obh.2 - 3 277 c.185T>C c.(184-186)ATC>ACC p.I62T MAP4K2_uc001obi.2_Missense_Mutation_p.I62T|MAP4K2_uc010rnp.1_Missense_Mutation_p.I62T NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 62 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 CAGGATGGTGATTTCCTGCTG 0.552 NaN 0 0 0 0.003163 0 11 20 MUS81 80198 broad.mit.edu 37 11 65628568 65628568 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:65628568C>T uc001ofv.3 + 2 613 c.260C>T c.(259-261)TCG>TTG p.S87L CFL1_uc001ofs.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank NM_025128 NP_079404 Q96NY9 MUS81_HUMAN MUS81 endonuclease homolog 87 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding 0 READ - Rectum adenocarcinoma(159;0.166) CACCGAACATCGGGCGGTGAG 0.662 NaN Homologous_recombination 0 0 0 0.005524 0 35 38 SSH3 54961 broad.mit.edu 37 11 67071614 67071614 + Missense_Mutation SNP G G A rs138958962 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:67071614G>A uc001okj.2 + 2 270 c.92G>A c.(91-93)CGA>CAA p.R31Q SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_5'UTR NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 31 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CGAAGGAGTCGACTCCAGCGA 0.692 NaN 0 0 0 0.016723 0 13 14 PITPNM1 9600 broad.mit.edu 37 11 67271650 67271650 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:67271650A>G uc001olx.2 - 1 191 c.2T>C c.(1-3)ATG>ACG p.M1T PITPNM1_uc001oly.2_Missense_Mutation_p.M1T|PITPNM1_uc001olz.2_Missense_Mutation_p.M1T NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 1 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 CTTGATGAGCATCCTGAAGGC 0.706 NaN 0 0 0 0.006214 0 10 25 ARAP1 116985 broad.mit.edu 37 11 72420989 72420989 + Missense_Mutation SNP G G C rs77842696 byFrequency TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:72420989G>C uc001osu.2 - 11 1638 c.1449C>G c.(1447-1449)ATC>ATG p.I483M ARAP1_uc001osv.2_Missense_Mutation_p.I483M|ARAP1_uc001osr.2_Missense_Mutation_p.I243M|ARAP1_uc001oss.2_Missense_Mutation_p.I238M|ARAP1_uc009yth.2_Missense_Mutation_p.I238M|ARAP1_uc010rre.1_Missense_Mutation_p.I238M NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 483 PH 2. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 CGCTCATGTCGATGAAGGTGA 0.622 NaN 0 0 0 0.012213 0 34 64 MLL 4297 broad.mit.edu 37 11 118342391 118342391 + Nonsense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:118342391C>T uc001pta.2 + 3 540 c.517C>T c.(517-519)CGA>TGA p.R173* MLL_uc001ptb.2_Nonsense_Mutation_p.R173*|MLL_uc001psz.1_Nonsense_Mutation_p.R206*|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 173 A.T hook 1. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AACTAGTCCTCGAAAACCTCG 0.383 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.004482 0 8 15 ZNF202 7753 broad.mit.edu 37 11 123598256 123598256 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:123598256C>T uc001pzd.1 - 8 1280 c.880G>A c.(880-882)GAG>AAG p.E294K ZNF202_uc001pzc.1_Missense_Mutation_p.E70K|ZNF202_uc001pze.1_Missense_Mutation_p.E294K|ZNF202_uc001pzf.1_Missense_Mutation_p.E294K NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 294 KRAB. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) ACCCAAGGCTCTTCCTCTCTA 0.483 NaN 0 0 0 0.016522 0 22 25 TP53AIP1 63970 broad.mit.edu 37 11 128805599 128805599 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:128805599G>C uc001qey.2 - 4 472 c.262C>G c.(262-264)CTA>GTA p.L88V TP53AIP1_uc001qex.2_3'UTR Q9HCN2 TPIP1_HUMAN RecName: Full=p53-regulated apoptosis-inducing protein 1; Short=p53AIP1; 88 apoptosis mitochondrion lung(1) 1 GAGAGACCTAGACCAAGGCCT 0.463 NaN 0 0 0 0.004672 0 3 5 SNX19 399979 broad.mit.edu 37 11 130785628 130785628 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:130785628G>A uc001qgk.3 - 1 755 c.207C>T c.(205-207)CTC>CTT p.L69L SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 69 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CCACTCCAGCGAGGCTGGAGC 0.602 NaN 0 0 0 0.004482 0 9 42 B4GALNT3 283358 broad.mit.edu 37 12 645436 645436 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:645436A>G uc001qii.1 + 3 326 c.326A>G c.(325-327)AAC>AGC p.N109S NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 109 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TTGAAGTGGAACAAGCCTGTC 0.448 NaN 0 0 0 0.003163 0 14 84 KCNA6 3742 broad.mit.edu 37 12 4920654 4920654 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:4920654G>A uc001qng.2 + 1 2313 c.1447G>A c.(1447-1449)GGG>AGG p.G483R NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 483 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CGTCACTTGTGGGCAGCCTGC 0.607 NaN HNSCC(72;0.22) 0 0 0 0.012319 0 21 48 CD163 9332 broad.mit.edu 37 12 7635263 7635263 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:7635263G>A uc001qsz.3 - 14 3351 c.3223C>T c.(3223-3225)CGA>TGA p.R1075* CD163_uc001qta.3_Nonsense_Mutation_p.R1075*|CD163_uc009zfw.2_Nonsense_Mutation_p.R1108* NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1075 Cytoplasmic (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CTCTGTCTTCGCTTTTTAGTC 0.433 NaN 0 0 0 0.01441 0 61 72 SLC2A3 6515 broad.mit.edu 37 12 8083956 8083956 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:8083956C>A uc001qtr.2 - 4 657 c.395G>T c.(394-396)GGA>GTA p.G132V SLC2A3_uc001qts.2_Missense_Mutation_p.G132V NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 132 Helical; Name=4; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TGTGCAGAGTCCGCAGAAGAG 0.537 NaN 1 0 2.12542e-12 0.00632 2.41649e-12 27 70 SOX5 6660 broad.mit.edu 37 12 23999076 23999076 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:23999076T>A uc001rfw.2 - 3 424 c.322A>T c.(322-324)ACC>TCC p.T108S SOX5_uc001rfx.2_Missense_Mutation_p.T95S|SOX5_uc001rfy.2_Missense_Mutation_p.T95S|SOX5_uc010siv.1_Missense_Mutation_p.T95S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.T60S|SOX5_uc001rga.2_Missense_Mutation_p.T73S NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 108 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TGAGGTGAGGTAGATGAGTTG 0.468 NaN 0 0 0 0.004656 0 22 59 C12orf77 196415 broad.mit.edu 37 12 25149238 25149238 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:25149238G>A uc001rgf.2 - 2 244 c.39C>T c.(37-39)CTC>CTT p.L13L NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN hypothetical protein LOC196415 13 0 TTATGACTAGGAGGGAAATGT 0.408 NaN 0 0 0 0.00499 0 14 57 DDX11 1663 broad.mit.edu 37 12 31256902 31256902 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:31256902G>A uc001rjt.1 + 27 3099 c.2848G>A c.(2848-2850)GAG>AAG p.E950K DDX11_uc001rjr.1_3'UTR|DDX11_uc001rjs.1_3'UTR|DDX11_uc001rju.1_3'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E950K|DDX11_uc001rjw.1_3'UTR|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Missense_Mutation_p.E119K NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 950 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GTGGAGTCCAGAGTGCTGCCA 0.592 NaN Multiple Myeloma(12;0.14) 0 0 0 0.001168 0 6 6 SMAGP 57228 broad.mit.edu 37 12 51639758 51639758 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:51639758G>T uc001ryc.1 - 3 932 c.261C>A c.(259-261)GCC>GCA p.A87A SMAGP_uc001ryd.1_Silent_p.A87A|SMAGP_uc001rye.1_Silent_p.A87A|SMAGP_uc001ryf.1_RNA|DAZAP2_uc010snf.1_Intron NM_001033873 NP_001029045 Q0VAQ4 SMAGP_HUMAN small trans-membrane and glycosylated protein 87 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|plasma membrane 0 CGCTGCCCTTGGCCAAGTCAC 0.488 NaN 1 0 3.8784e-16 0.012319 4.49078e-16 22 36 KRT2 3849 broad.mit.edu 37 12 53040646 53040646 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:53040646C>G uc001sat.2 - 7 1380 c.1347G>C c.(1345-1347)CTG>CTC p.L449L NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 449 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) TGGCCTGCTGCAGGGCCTCCT 0.587 NaN 0 0 0 0.008291 0 10 78 CSAD 51380 broad.mit.edu 37 12 53565213 53565213 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:53565213G>C uc001sby.2 - 7 590 c.464C>G c.(463-465)TCC>TGC p.S155C CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Missense_Mutation_p.S182C|CSAD_uc001sbz.2_Missense_Mutation_p.S155C|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 155 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) ATACATGTTGGAGATGGAGCC 0.597 NaN Hereditary_Prostate_Cancer 0 0 0 0.008291 0 11 29 ITGA7 3679 broad.mit.edu 37 12 56091544 56091544 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:56091544A>G uc001shh.2 - 9 1576 c.1356T>C c.(1354-1356)GAT>GAC p.D452D ITGA7_uc001shg.2_Silent_p.D448D|ITGA7_uc010sps.1_Silent_p.D355D|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.D335D NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 492 Potential.|FG-GAP 7.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 TCCCATCCATATCCAAGCTGC 0.607 NaN 0 0 0 0.021523 0 24 32 CD63 967 broad.mit.edu 37 12 56120509 56120509 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:56120509G>A uc001shm.2 - 4 497 c.401C>T c.(400-402)TCG>TTG p.S134L CD63_uc009znz.2_Missense_Mutation_p.S111L|CD63_uc001shn.2_Missense_Mutation_p.S134L|CD63_uc001sho.2_Missense_Mutation_p.S134L|CD63_uc001shp.2_Missense_Mutation_p.S134L NM_001780 NP_001771 P08962 CD63_HUMAN CD63 antigen isoform A 134 Extracellular (Potential). platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane 0 GTCCAGGATCGAAGCAGTGTG 0.458 NaN 0 0 0 0.007291 0 31 34 MBD6 114785 broad.mit.edu 37 12 57918588 57918589 + Missense_Mutation DNP CC CC TT TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:57918588_57918589CC>TT uc001soj.1 + 4 423_424 c.199_200CC>TT c.(199-201)CCA>TTA p.P67L MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 67 MBD. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 TCTGGAGTGTCCACTTAATGTC 0.545 NaN 0 0 0 0.004672 0 21 52 AGAP2 116986 broad.mit.edu 37 12 58121176 58121176 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:58121176C>T uc001spq.2 - 17 3047 c.3047G>A c.(3046-3048)CGA>CAA p.R1016Q AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Missense_Mutation_p.R1015Q|AGAP2_uc001spr.2_Missense_Mutation_p.R660Q|LOC100130776_uc001sps.3_Missense_Mutation_p.S134L NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 1016 Arf-GAP. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 GGCACGGCCTCGCGTGTCGCT 0.667 NaN 0 0 0 0.001984 0 7 11 TMEM5 10329 broad.mit.edu 37 12 64199128 64199128 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:64199128G>A uc001srq.1 + 5 962 c.858G>A c.(856-858)ATG>ATA p.M286I TMEM5_uc001srr.1_Missense_Mutation_p.M183I|TMEM5_uc001srs.1_Missense_Mutation_p.M26I NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 286 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) AGGCACTAATGAACATTTTGA 0.368 NaN 0 0 0 0.01892 0 22 50 NAP1L1 4673 broad.mit.edu 37 12 76447574 76447574 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:76447574C>T uc001sxw.2 - 9 1158 c.746G>A c.(745-747)GGA>GAA p.G249E NAP1L1_uc001sxv.2_Missense_Mutation_p.G207E|NAP1L1_uc001sxz.2_Missense_Mutation_p.G180E|NAP1L1_uc001sxx.2_Missense_Mutation_p.G249E|NAP1L1_uc001sxy.2_Missense_Mutation_p.G186E|NAP1L1_uc010sty.1_Missense_Mutation_p.G206E|NAP1L1_uc010stz.1_Missense_Mutation_p.G66E|NAP1L1_uc010sua.1_Missense_Mutation_p.G249E|NAP1L1_uc001syb.2_Missense_Mutation_p.G249E|NAP1L1_uc001sya.2_Missense_Mutation_p.G207E|NAP1L1_uc001syc.2_Missense_Mutation_p.G260E NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 249 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) AATTTCTGGTCCATCAAAAGA 0.323 NaN 0 0 0 0.00308 0 8 24 PPP1R12A 4659 broad.mit.edu 37 12 80328602 80328602 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:80328602T>A uc001syz.2 - 1 377 c.110A>T c.(109-111)AAG>ATG p.K37M PPP1R12A_uc001sza.2_Missense_Mutation_p.K37M|PPP1R12A_uc010sud.1_Missense_Mutation_p.K37M|PPP1R12A_uc001szb.2_Missense_Mutation_p.K37M|PPP1R12A_uc001szc.2_Missense_Mutation_p.K37M NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 37 contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 ATCGTCGAACTTCACCTTGGT 0.637 NaN 0 0 0 0.001168 0 5 3 TMCC3 57458 broad.mit.edu 37 12 94965478 94965478 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:94965478C>T uc001tdj.2 - 4 1285 c.1167G>A c.(1165-1167)AAG>AAA p.K389K TMCC3_uc001tdi.2_Silent_p.K358K NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 389 Potential. integral to membrane ovary(1)|skin(1) 2 GGAGCTCCAGCTTAGAAATGC 0.547 NaN 0 0 0 0.016522 0 22 58 CDK17 5128 broad.mit.edu 37 12 96728597 96728597 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:96728597T>A uc001tep.1 - 2 507 c.18A>T c.(16-18)AGA>AGT p.R6S CDK17_uc009ztk.2_Missense_Mutation_p.R6S|CDK17_uc010svb.1_Intron NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 6 ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 GGGATAGCCTTCTCTTAAATT 0.338 NaN 0 0 0 0.001168 0 5 14 SACS 26278 broad.mit.edu 37 13 23906653 23906653 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:23906653G>A uc001uon.2 - 10 11951 c.11362C>T c.(11362-11364)CGT>TGT p.R3788C SACS_uc001uoo.2_Missense_Mutation_p.R3641C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3788 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTGAAAACGAAATTCCCTT 0.383 NaN 0 0 0 0.005443 0 28 48 MTMR6 9107 broad.mit.edu 37 13 25827950 25827950 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:25827950T>C uc001uqf.3 - 11 1617 c.1298A>G c.(1297-1299)CAG>CGG p.Q433R MTMR6_uc001uqe.1_Missense_Mutation_p.Q433R NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 433 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTTTCCAAACTGGCATGAATG 0.408 NaN 0 0 0 0.016522 0 24 48 KBTBD6 89890 broad.mit.edu 37 13 41706188 41706188 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:41706188C>T uc001uxu.1 - 1 749 c.460G>A c.(460-462)GAA>AAA p.E154K KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E88K|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 154 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CGCACATATTCCAGCTGTAGC 0.582 NaN 0 0 0 0.008871 0 17 23 RNF219 79596 broad.mit.edu 37 13 79190511 79190511 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:79190511G>C uc001vkw.1 - 6 1444 c.1385C>G c.(1384-1386)CCA>CGA p.P462R uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.P272R|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 462 Ser-rich. P -> T (in Ref. 1; CAB66586). zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TCCTGTCTTTGGGGAAGAAAA 0.333 NaN 0 0 0 0.008291 0 9 17 GPR18 2841 broad.mit.edu 37 13 99908094 99908094 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:99908094G>C uc001voe.3 - 3 534 c.33C>G c.(31-33)GTC>GTG p.V11V UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Silent_p.V11V NM_005292 NP_005283 Q14330 GPR18_HUMAN G protein-coupled receptor 18 11 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TGTTAAAAGGGACAGGTTGAT 0.323 NaN 0 0 0 0.020292 0 13 37 OR11H4 390442 broad.mit.edu 37 14 20711591 20711591 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:20711591C>G uc010tld.1 + 1 641 c.641C>G c.(640-642)TCC>TGC p.S214C NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ACTCAGAGCTCCCTTGTCCTC 0.443 NaN 0 0 0 0.008871 0 21 159 ACIN1 22985 broad.mit.edu 37 14 23559767 23559767 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:23559767G>A uc001wit.3 - 3 782 c.454C>T c.(454-456)CTG>TTG p.L152L ACIN1_uc010akg.2_Silent_p.L152L|ACIN1_uc010tnj.1_Silent_p.L152L NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 152 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCACGTTCCAGACGCTGCCTA 0.438 NaN 0 0 0 0.001984 0 7 47 ARHGAP5 394 broad.mit.edu 37 14 32562941 32562941 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:32562941T>C uc001wrl.2 + 2 3305 c.3066T>C c.(3064-3066)CAT>CAC p.H1022H ARHGAP5_uc001wrm.2_Silent_p.H1022H|ARHGAP5_uc001wrn.2_Silent_p.H1022H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1022 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATCCTATTCATAGTACCCCAA 0.403 NaN 0 0 0 0.003163 0 15 65 AKAP6 9472 broad.mit.edu 37 14 33291834 33291834 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:33291834C>A uc001wrq.2 + 13 4985 c.4815C>A c.(4813-4815)AGC>AGA p.S1605R NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1605 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CCTATAAAAGCAATGAAGATC 0.428 NaN 1 0 0.000274275 0.004482 0.000298715 9 37 SYNE2 23224 broad.mit.edu 37 14 64457735 64457735 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:64457735A>G uc001xgm.2 + 21 2778 c.2548A>G c.(2548-2550)ATG>GTG p.M850V SYNE2_uc001xgl.2_Missense_Mutation_p.M850V NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 850 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGGCTGAAGATGGAAGAATC 0.413 NaN 0 0 0 0.011902 0 43 8 SPTB 6710 broad.mit.edu 37 14 65233430 65233430 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:65233430G>A uc001xht.2 - 31 6413 c.6359C>T c.(6358-6360)TCT>TTT p.S2120F SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Missense_Mutation_p.S2120F|SPTB_uc010aqi.2_Intron NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 2120 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGACAAACGAGACCAGAGACT 0.632 NaN 0 0 0 0.01441 0 126 35 GTF2A1 2957 broad.mit.edu 37 14 81662522 81662522 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:81662522G>A uc001xvf.1 - 6 974 c.542C>T c.(541-543)TCA>TTA p.S181L GTF2A1_uc010atb.1_Missense_Mutation_p.S131L|GTF2A1_uc001xvg.1_Missense_Mutation_p.S142L NM_015859 NP_056943 P52655 TF2AA_HUMAN TFIIA alpha, p55 isoform 1 181 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0287) TAGAACCACTGACTGCTGAGG 0.423 NaN 0 0 0 0.01441 0 55 21 AK7 122481 broad.mit.edu 37 14 96949491 96949491 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:96949491G>A uc001yfn.2 + 16 1953 c.1909G>A c.(1909-1911)GAA>AAA p.E637K NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 637 Potential.|Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGCTGCTGAGGAAGCAGAACG 0.567 NaN 0 0 0 0.003163 0 16 8 HSP90AA1 3320 broad.mit.edu 37 14 102550300 102550300 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:102550300C>T uc001yku.3 - 7 1358 c.1168G>A c.(1168-1170)GAC>AAC p.D390N HSP90AA1_uc001ykv.3_Missense_Mutation_p.D512N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D211N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D379N NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 390 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) TCCTCCGAGTCTACCACCCCT 0.363 NaN 0 0 0 0.010504 0 19 10 XRCC3 7517 broad.mit.edu 37 14 104174929 104174929 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:104174929G>A uc001yny.3 - 5 503 c.123C>T c.(121-123)CTC>CTT p.L41L XRCC3_uc001ynx.3_Silent_p.L41L|XRCC3_uc001ynz.3_Silent_p.L41L|XRCC3_uc001yoa.3_Silent_p.L41L|XRCC3_uc001yob.1_RNA NM_005432 NP_005423 O43542 XRCC3_HUMAN X-ray repair cross complementing protein 3 41 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) CGGGGCTGGAGAGGTTGGTCA 0.507 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.014323 0 22 8 HERC2 8924 broad.mit.edu 37 15 28460863 28460863 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:28460863C>T uc001zbj.2 - 39 6220 c.6114G>A c.(6112-6114)CAG>CAA p.Q2038Q NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2038 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGCCGCATACCTGCGGCGTGA 0.627 NaN 0 0 0 0.016522 0 23 24 APBA2 321 broad.mit.edu 37 15 29393827 29393827 + Missense_Mutation SNP G G A rs142481200 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:29393827G>A uc001zck.2 + 9 1571 c.1364G>A c.(1363-1365)CGT>CAT p.R455H APBA2_uc010azj.2_Missense_Mutation_p.R443H|APBA2_uc010uat.1_Missense_Mutation_p.R443H|APBA2_uc001zcl.2_Missense_Mutation_p.R443H|APBA2_uc001zcm.1_Missense_Mutation_p.R147H NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 455 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CACGCCTTGCGTACCATCTCC 0.552 NaN 0 0 0 0.004482 0 8 15 DISP2 85455 broad.mit.edu 37 15 40660107 40660107 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:40660107C>T uc001zlk.1 + 8 1883 c.1794C>T c.(1792-1794)CTC>CTT p.L598L NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 598 Helical; (Potential).|SSD. smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCTCCGGCCTCACCACGAGCG 0.706 NaN 0 0 0 0.001168 0 6 4 LCMT2 9836 broad.mit.edu 37 15 43622469 43622469 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:43622469C>G uc001zrg.2 - 1 423 c.219G>C c.(217-219)CAG>CAC p.Q73H LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 73 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GCGCGCCAATCTGCTCCAAAA 0.682 NaN 0 0 0 0.008871 0 19 11 ODF3L1 161753 broad.mit.edu 37 15 76017546 76017546 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:76017546G>A uc002bax.1 + 2 438 c.216G>A c.(214-216)CGG>CGA p.R72R NM_175881 NP_787077 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 72 0 TGCATAGCCGGCACTCAGAGA 0.592 NaN 0 0 0 0.014758 0 4 58 ARNT2 9915 broad.mit.edu 37 15 80845057 80845057 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:80845057A>G uc002bfr.2 + 10 1197 c.1031A>G c.(1030-1032)GAT>GGT p.D344G ARNT2_uc010unm.1_Missense_Mutation_p.D333G|ARNT2_uc002bfs.2_Missense_Mutation_p.D333G NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 344 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) CATAACTCCGATGGAATCATC 0.473 NaN 0 0 0 0.013114 0 46 28 BTBD1 53339 broad.mit.edu 37 15 83710670 83710670 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:83710670G>C uc002bjn.2 - 4 875 c.672C>G c.(670-672)CTC>CTG p.L224L BTBD1_uc002bjo.2_Silent_p.L224L NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 224 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) AAACTGCACAGAGTGTATCTA 0.368 NaN 0 0 0 0.003163 0 13 12 RGMA 56963 broad.mit.edu 37 15 93588760 93588760 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:93588760G>T uc002bss.1 - 4 1093 c.821C>A c.(820-822)GCC>GAC p.A274D RGMA_uc002bsq.1_Missense_Mutation_p.A258D|RGMA_uc010boi.1_Missense_Mutation_p.A165D|RGMA_uc002bsr.1_Missense_Mutation_p.A165D|RGMA_uc010urc.1_Missense_Mutation_p.A282D NM_020211 NP_064596 Q96B86 RGMA_HUMAN RGM domain family, member A precursor 274 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane 0 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GATGTACTTGGCCTGGATCTC 0.617 NaN 1 0 3.1745e-13 0.008361 3.63744e-13 27 9 FAM169B 283777 broad.mit.edu 37 15 98995120 98995120 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:98995120C>T uc002buk.1 - 5 554 c.304G>A c.(304-306)GAG>AAG p.E102K NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 102 0 GGGAATGTCTCACAGAAGTCC 0.572 NaN 0 0 0 0.020292 0 14 5 NLRC3 197358 broad.mit.edu 37 16 3613416 3613416 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:3613416C>G uc010btn.2 - 5 1933 c.1522G>C c.(1522-1524)GGG>CGG p.G508R NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 508 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TCCAGCCTCCCGTCCTCTGCC 0.667 NaN 0 0 0 0.004672 0 3 0 ZNF267 10308 broad.mit.edu 37 16 31927008 31927008 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:31927008A>T uc002ecs.3 + 4 1647 c.1438A>T c.(1438-1440)ATT>TTT p.I480F NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 480 C2H2-type 6. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 TTCAAATCTTATTATGCATCA 0.363 NaN 0 0 0 0.008291 0 11 56 ABCC12 94160 broad.mit.edu 37 16 48130786 48130786 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:48130786G>A uc002efc.1 - 22 3412 c.3066C>T c.(3064-3066)CTC>CTT p.L1022L ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1022 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CAAACCACCTGAGAGCACAGT 0.463 NaN 0 0 0 0.005443 0 24 40 CDH16 1014 broad.mit.edu 37 16 66946442 66946442 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:66946442T>A uc002eql.2 - 11 1397 c.1324A>T c.(1324-1326)ATC>TTC p.I442F CDH16_uc010cdy.2_Missense_Mutation_p.I442F|CDH16_uc002eqm.2_Missense_Mutation_p.I345F NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 442 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGATCATTGATATCTGTGACT 0.597 NaN 0 0 0 0.016723 0 12 47 ESRP2 80004 broad.mit.edu 37 16 68269814 68269814 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:68269814C>G uc010cfa.1 - 1 323 c.135G>C c.(133-135)CTG>CTC p.L45L ESRP2_uc002evq.1_Silent_p.L45L NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN RNA binding motif protein 35B 45 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding ovary(1) 1 CGTCCGAGCCCAGGTCCCGTC 0.502 NaN 0 0 0 0.008291 0 10 11 MTSS1L 92154 broad.mit.edu 37 16 70698173 70698173 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:70698173T>C uc002ezj.2 - 15 1911 c.1651A>G c.(1651-1653)ACT>GCT p.T551A NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 551 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 GGCAGGCCAGTGGCCGTGGGC 0.746 NaN 0 0 0 0.004482 0 9 23 CMIP 80790 broad.mit.edu 37 16 81712175 81712175 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:81712175G>C uc002fgp.2 + 10 1402 c.1330G>C c.(1330-1332)GAG>CAG p.E444Q CMIP_uc002fgq.1_Missense_Mutation_p.E350Q|CMIP_uc010vnq.1_Missense_Mutation_p.E257Q|CMIP_uc002fgr.1_Missense_Mutation_p.E291Q NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 410 cytoplasm|nucleus 0 CATGAGCATCGAGCTGGGCCC 0.562 NaN 0 0 0 0.008291 0 8 9 ZDHHC7 55625 broad.mit.edu 37 16 85011581 85011581 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:85011581G>C uc002fiq.2 - 6 921 c.568C>G c.(568-570)CTG>GTG p.L190V ZDHHC7_uc010voi.1_Missense_Mutation_p.L227V|ZDHHC7_uc002fir.1_RNA NM_017740 NP_060210 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 isoform 2 190 Helical; (Potential). integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(1) 1 CAAAGGATCAGAGCATGGACT 0.378 NaN 0 0 0 0.01441 0 45 41 TCF25 22980 broad.mit.edu 37 16 89958628 89958628 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:89958628C>T uc002fpb.2 + 6 724 c.642C>T c.(640-642)CCC>CCT p.P214P TCF25_uc002fpc.2_5'UTR NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 214 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) GTGTGTACCCCAAGTGCACAT 0.617 NaN 0 0 0 0.001168 0 4 21 ZNF594 84622 broad.mit.edu 37 17 5086957 5086957 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:5086957C>G uc010cla.1 - 2 751 c.595G>C c.(595-597)GTG>CTG p.V199L NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 199 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TTATGTCTCACCAGATTGGAG 0.393 NaN 0 0 0 0.00623 0 38 87 ZNF594 84622 broad.mit.edu 37 17 5087090 5087090 + Silent SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:5087090T>G uc010cla.1 - 2 618 c.462A>C c.(460-462)CCA>CCC p.P154P NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TACACACATATGGCTTATTTC 0.303 NaN 0 0 0 0.016522 0 22 55 DHX33 56919 broad.mit.edu 37 17 5371895 5371895 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:5371895G>A uc002gca.2 - 1 287 c.285C>T c.(283-285)CTC>CTT p.L95L DHX33_uc002gcb.2_5'UTR|DHX33_uc010clf.2_Silent_p.L95L NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 95 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 ACTCACCGATGAGGACCGCGT 0.612 NaN 0 0 0 0.001168 0 5 16 DLG4 1742 broad.mit.edu 37 17 7121570 7121570 + Nonsense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:7121570G>C uc002get.3 - 3 1350 c.149C>G c.(148-150)TCA>TGA p.S50* DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Nonsense_Mutation_p.S50*|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 CTGACTCTCTGAGAGGGAAGC 0.552 NaN 0 0 0 0.016723 0 9 13 TP53 7157 broad.mit.edu 37 17 7578500 7578500 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:7578500G>A uc002gim.2 - 5 624 c.430C>T c.(430-432)CAG>TAG p.Q144* TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 144 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (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.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(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) ACCCACAGCTGCACAGGGCAG 0.597 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.013726 0 32 39 MYH3 4621 broad.mit.edu 37 17 10545784 10545784 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:10545784G>C uc002gmq.1 - 15 1915 c.1838C>G c.(1837-1839)TCT>TGT p.S613C NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 613 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CCTGTTGGAAGACTTCTGGTA 0.542 NaN 0 0 0 0.01441 0 48 22 TMEM132E 124842 broad.mit.edu 37 17 32964390 32964390 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:32964390C>T uc002hif.2 + 10 2422 c.2094C>T c.(2092-2094)ACC>ACT p.T698T NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 698 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CAGAGCTAACCATCGCTGAGA 0.642 NaN 0 0 0 0.00308 0 7 47 DUSP14 11072 broad.mit.edu 37 17 35872428 35872428 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:35872428G>A uc002hnx.2 + 3 348 c.54G>A c.(52-54)ATG>ATA p.M18I DUSP14_uc002hny.2_Missense_Mutation_p.M5I|DUSP14_uc002hnz.2_Missense_Mutation_p.M5I NM_007026 NP_008957 O95147 DUS14_HUMAN dual specificity phosphatase 14 18 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Breast(25;0.00637)|Ovarian(249;0.15) CCCCTCGGATGATTTCCGAGG 0.577 NaN 0 0 0 0.01441 0 51 31 ERBB2 2064 broad.mit.edu 37 17 37879903 37879903 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:37879903C>T uc002hso.2 + 18 2436 c.2198C>T c.(2197-2199)ACA>ATA p.T733I ERBB2_uc002hsm.2_Missense_Mutation_p.T703I|ERBB2_uc010cwa.2_Missense_Mutation_p.T718I|ERBB2_uc002hsp.2_Missense_Mutation_p.T536I|ERBB2_uc010cwb.2_Missense_Mutation_p.T733I|ERBB2_uc010wek.1_Missense_Mutation_p.T457I NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 733 Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.T733I(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCTTTTGGCACAGTCTACAAG 0.637 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.01441 0 103 7 IKZF3 22806 broad.mit.edu 37 17 37947792 37947792 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:37947792G>A uc002hsu.2 - 5 531 c.469C>T c.(469-471)CAG>TAG p.Q157* IKZF3_uc002htd.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Nonsense_Mutation_p.Q70*|IKZF3_uc002htc.2_Intron NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 157 C2H2-type 2. B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTACCTTTCTGAGTAAAAGAT 0.448 NaN 0 0 0 0.01441 0 809 81 KRTAP4-11 653240 broad.mit.edu 37 17 39274205 39274205 + Silent SNP T T C rs80322614 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:39274205T>C uc002hvz.2 - 1 402 c.363A>G c.(361-363)AGA>AGG p.R121R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) agcactggggtctgcagcagc 0.095 NaN 0 0 0 0.004482 0 3 11 STH 246744 broad.mit.edu 37 17 44076789 44076789 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:44076789C>T uc002ijy.2 + 1 174 c.144C>T c.(142-144)CTC>CTT p.L48L MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_001007532 NP_001007533 Q8IWL8 STH_HUMAN saitohin 48 cytoplasm|nucleus 0 ACAGAACCCTCAGCTTAGCAT 0.418 NaN 0 0 0 0.004482 0 9 38 ITGA3 3675 broad.mit.edu 37 17 48153806 48153806 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:48153806C>T uc010dbl.2 + 13 2255 c.1791C>T c.(1789-1791)CTC>CTT p.L597L ITGA3_uc010dbm.2_Silent_p.L597L NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 597 Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 ACCCGATCCTCAACCAGGCAC 0.647 NaN 0 0 0 0.010818 0 32 160 SAMD14 201191 broad.mit.edu 37 17 48190393 48190393 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:48190393G>A uc002iqg.2 - 10 1417 c.1118C>T c.(1117-1119)TCT>TTT p.S373F SAMD14_uc002iqd.2_Missense_Mutation_p.S156F|SAMD14_uc002iqe.2_Missense_Mutation_p.S156F|SAMD14_uc002iqf.2_Missense_Mutation_p.S401F NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 373 SAM. 0 CCGGTCATGAGAGTTGCTGAG 0.657 NaN 0 0 0 0.001984 0 6 33 CHAD 1101 broad.mit.edu 37 17 48545626 48545626 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:48545626C>T uc010dbr.2 - 1 602 c.549G>A c.(547-549)TTG>TTA p.L183L ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.L183L|ACSF2_uc010dbt.1_5'Flank NM_001267 NP_001258 O15335 CHAD_HUMAN chondroadherin precursor 183 LRR 5. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent ovary(2)|central_nervous_system(1) 3 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCAGGGAGCTCAACGCGTTTT 0.622 NaN 0 0 0 0.016723 0 12 114 AXIN2 8313 broad.mit.edu 37 17 63533517 63533517 + Missense_Mutation SNP C C T rs145717795 byFrequency TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:63533517C>T uc002jfi.2 - 6 1926 c.1637G>A c.(1636-1638)GGC>GAC p.G546D AXIN2_uc002jfh.2_Missense_Mutation_p.G546D NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 546 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 ATACTCGCTGCCCCCAGGGCA 0.612 NaN Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 0 0 0 0.006214 0 10 110 CBX4 8535 broad.mit.edu 37 17 77808682 77808682 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:77808682G>C uc002jxe.2 - 5 922 c.759C>G c.(757-759)GTC>GTG p.V253V NM_003655 NP_003646 O00257 CBX4_HUMAN chromobox homolog 4 253 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity skin(2) 2 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCTTGTTCTTGACTATCTTCA 0.577 NaN OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 130 164 LPIN2 9663 broad.mit.edu 37 18 2954522 2954522 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:2954522C>T uc002klo.2 - 3 507 c.268G>A c.(268-270)GAG>AAG p.E90K NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 90 N-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) TCAGTCTCCTCAACAAAGAAA 0.453 NaN 0 0 0 0.007413 0 18 23 ABHD3 171586 broad.mit.edu 37 18 19231568 19231568 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:19231568C>A uc002ktl.2 - 9 1354 c.1214G>T c.(1213-1215)GGA>GTA p.G405V ABHD3_uc002ktm.2_Missense_Mutation_p.G352V|ABHD3_uc002ktk.2_Missense_Mutation_p.G210V NM_138340 NP_612213 Q8WU67 ABHD3_HUMAN alpha/beta hydrolase domain containing protein 405 integral to membrane carboxylesterase activity central_nervous_system(1) 1 GAGTTCATGTCCATGCTCAAC 0.423 NaN 1 0 7.41606e-26 0.01441 8.65534e-26 58 46 MIB1 57534 broad.mit.edu 37 18 19359586 19359586 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:19359586G>C uc002ktq.2 + 6 848 c.848G>C c.(847-849)GGA>GCA p.G283A MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 283 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) ACTACAACTGGAACTGTTTGT 0.388 NaN 0 0 0 0.01441 0 75 88 C18orf34 374864 broad.mit.edu 37 18 30903591 30903591 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:30903591C>T uc002kxn.2 - 10 1028 c.886G>A c.(886-888)GAC>AAC p.D296N C18orf34_uc010xbr.1_Missense_Mutation_p.D296N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D296N|C18orf34_uc002kxp.2_Missense_Mutation_p.D296N NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 296 Potential. ovary(1) 1 CTGTGTAGGTCCATTACCTAG 0.294 NaN 0 0 0 0.009096 0 4 2 MALT1 10892 broad.mit.edu 37 18 56348424 56348424 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:56348424T>C uc002lhm.1 + 2 490 c.232T>C c.(232-234)TCT>CCT p.S78P MALT1_uc002lhn.1_Missense_Mutation_p.S78P NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 78 Death. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 GGAGCAGTGTTCTCTTAAGGT 0.463 NaN T BIRC3 MALT 0 0 0 0.010771 0 36 21 ATP8B3 148229 broad.mit.edu 37 19 1796870 1796870 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:1796870G>C uc002ltw.2 - 16 1827 c.1593C>G c.(1591-1593)CCC>CCG p.P531P ATP8B3_uc002ltv.2_Silent_p.P484P|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 531 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCAGAGGTAGGGGTTCTCCT 0.716 NaN 0 0 0 0.004672 0 3 22 STAP2 55620 broad.mit.edu 37 19 4338736 4338736 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:4338736C>T uc002mab.2 - 1 112 c.15G>A c.(13-15)CTG>CTA p.L5L STAP2_uc002mac.2_Silent_p.L5L|STAP2_uc002mad.2_5'UTR NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 5 cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGTGGCCTCAGGGCAGAGG 0.627 NaN 0 0 0 0.010729 0 9 26 VAV1 7409 broad.mit.edu 37 19 6836572 6836572 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:6836572G>A uc002mfu.1 + 20 2004 c.1907G>A c.(1906-1908)TGG>TAG p.W636* VAV1_uc010xjh.1_Nonsense_Mutation_p.W604*|VAV1_uc010dva.1_Nonsense_Mutation_p.W636*|VAV1_uc002mfv.1_Nonsense_Mutation_p.W581* NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 636 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 GAACAGAACTGGTGGGAGGTA 0.567 NaN 0 0 0 0.00308 0 7 24 ANGPTL4 51129 broad.mit.edu 37 19 8431173 8431173 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:8431173G>A uc002mjq.1 + 3 712 c.517G>A c.(517-519)GAC>AAC p.D173N ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173N|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6N NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor 173 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 CCAGCCAGTTGACCCGGCTCA 0.637 NaN 0 0 0 0.008871 0 18 32 ANGPTL4 51129 broad.mit.edu 37 19 8431175 8431175 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:8431175C>A uc002mjq.1 + 3 714 c.519C>A c.(517-519)GAC>GAA p.D173E ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173E|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6E NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor 173 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 AGCCAGTTGACCCGGCTCACA 0.632 NaN 1 0 1.33834e-09 0.007413 1.5138e-09 18 32 MUC16 94025 broad.mit.edu 37 19 9076683 9076683 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:9076683G>T uc002mkp.2 - 3 10967 c.10763C>A c.(10762-10764)GCA>GAA p.A3588E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3589 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAATCTGATGCAGCTGTGGA 0.493 NaN 1 0 0.00116845 0.001168 0.00126318 6 76 MYO9B 4650 broad.mit.edu 37 19 17321180 17321180 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:17321180G>A uc010eak.2 + 37 5939 c.5787G>A c.(5785-5787)GAG>GAA p.E1929E MYO9B_uc002nfi.2_Silent_p.E1929E|MYO9B_uc002nfj.1_Intron|MYO9B_uc002nfm.1_Silent_p.E89E NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1929 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CTCCCTATGAGGGGGTCCTGG 0.627 NaN 0 0 0 0.00308 0 8 6 KCNN1 3780 broad.mit.edu 37 19 18092569 18092569 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:18092569G>A uc002nht.2 + 5 860 c.550G>A c.(550-552)GAG>AAG p.E184K KCNN1_uc010xqa.1_Missense_Mutation_p.E184K NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 184 Helical; Name=Segment S3; (Potential). synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 CATGACCTGCGAGCGCGTGTT 0.662 NaN 0 0 0 0.004007 0 16 20 KIAA1683 80726 broad.mit.edu 37 19 18377736 18377736 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:18377736G>A uc002nin.2 - 3 830 c.614C>T c.(613-615)CCC>CTC p.P205L KIAA1683_uc010ebn.2_Missense_Mutation_p.P205L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P159L NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 205 mitochondrion ovary(2) 2 GGACGACTGGGGTCTGCAGAG 0.642 NaN 0 0 0 0.004482 0 9 29 ZNF99 7652 broad.mit.edu 37 19 22941314 22941314 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:22941314G>A uc010xrh.1 - 5 1124 c.1124C>T c.(1123-1125)TCA>TTA p.S375L NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTAAGGGCTGAAAAATTGCT 0.358 NaN 0 0 0 0.00308 0 8 27 GPI 2821 broad.mit.edu 37 19 34884959 34884959 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:34884959G>T uc002nvg.1 + 12 1153 c.1050G>T c.(1048-1050)GCG>GCT p.A350A GPI_uc002nvf.2_Silent_p.A389A|GPI_uc010xrv.1_Silent_p.A361A|GPI_uc010xrw.1_Silent_p.A322A|GPI_uc010edl.1_Silent_p.A350A|GPI_uc002nvi.1_Silent_p.A13A NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 350 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) GCTTTGCTGCGTACTTCCAGC 0.582 NaN 1 0 0.00185496 0.016723 0.00200044 13 30 GRAMD1A 57655 broad.mit.edu 37 19 35505212 35505212 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:35505212C>T uc010xse.1 + 10 1127 c.990C>T c.(988-990)ACC>ACT p.T330T GRAMD1A_uc002nxi.1_Silent_p.T417T|GRAMD1A_uc002nxk.2_Silent_p.T323T|GRAMD1A_uc002nxl.2_Silent_p.T96T|GRAMD1A_uc010xsf.1_Silent_p.T335T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 330 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GGCCCACCACCCTGGGCCCCT 0.637 NaN 0 0 0 0.006999 0 32 63 UPK1A 11045 broad.mit.edu 37 19 36157752 36157752 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:36157752C>T uc002oaw.2 + 1 38 c.38C>T c.(37-39)TCT>TTT p.S13F UPK1A_uc010eeh.2_Missense_Mutation_p.S13F NM_007000 NP_008931 O00322 UPK1A_HUMAN uroplakin 1A 13 Cytoplasmic (Potential). epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity 0 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGAAGGGATCTCCAGTTGTG 0.622 NaN 0 0 0 0.016522 0 24 52 ZFP14 57677 broad.mit.edu 37 19 36832186 36832186 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:36832186A>C uc002odx.1 - 4 635 c.542T>G c.(541-543)TTT>TGT p.F181C ZFP14_uc010xtd.1_Missense_Mutation_p.F182C|ZFP14_uc010eex.1_Missense_Mutation_p.F181C NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 181 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) GCGACGAATAAAGGTCTTCCT 0.403 NaN 0 0 0 0.01892 0 24 52 ZNF571 51276 broad.mit.edu 37 19 38055989 38055989 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:38055989A>G uc002ogt.2 - 4 1442 c.1341T>C c.(1339-1341)TTT>TTC p.F447F uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.F447F NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 447 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTTACATTCAAAGGGTTTCT 0.388 NaN 0 0 0 0.001984 0 6 203 YIF1B 90522 broad.mit.edu 37 19 38800271 38800271 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:38800271C>A uc002ohz.2 - 2 120 c.71G>T c.(70-72)AGG>ATG p.R24M YIF1B_uc002ohw.2_Translation_Start_Site|YIF1B_uc002ohx.2_Missense_Mutation_p.R9M|YIF1B_uc010xtx.1_Missense_Mutation_p.R7M|YIF1B_uc010xty.1_Translation_Start_Site|YIF1B_uc002oia.2_Missense_Mutation_p.R21M|YIF1B_uc002ohy.2_Missense_Mutation_p.R21M|YIF1B_uc002oib.2_Missense_Mutation_p.R21M NM_001039672 NP_001034761 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B isoform 5 24 Cytoplasmic (Potential). integral to membrane 0 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CACAGGGATCCTCCGCTTCGA 0.632 NaN 1 0 0.000157383 0.00308 0.000171833 5 82 ITPKC 80271 broad.mit.edu 37 19 41223370 41223370 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:41223370G>A uc002oot.2 + 1 363 c.330G>A c.(328-330)AAG>AAA p.K110K ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 110 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGAGGCCCAAGCAAAAGACGG 0.622 NaN 0 0 0 0.00499 0 18 43 ARHGEF1 9138 broad.mit.edu 37 19 42410644 42410644 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:42410644G>A uc002orx.2 + 27 2636 c.2527G>A c.(2527-2529)GAA>AAA p.E843K ARHGEF1_uc002ory.2_Missense_Mutation_p.E810K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E681K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E858K|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.E502K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E287K NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 843 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TCCGGCGGAGGAAGACAATGG 0.677 NaN 0 0 0 0.01892 0 22 38 PHLDB3 653583 broad.mit.edu 37 19 44008260 44008260 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:44008260C>T uc002own.3 - 2 270 c.11G>A c.(10-12)CGA>CAA p.R4Q PHLDB3_uc002owo.2_Missense_Mutation_p.R4Q NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 4 0 Prostate(69;0.0153) GGGGCTGCTTCGCGTCCCCAT 0.756 NaN 0 0 0 0.020292 0 14 6 ZNF45 7596 broad.mit.edu 37 19 44418655 44418655 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:44418655C>G uc002oxu.1 - 4 1032 c.933G>C c.(931-933)AAG>AAC p.K311N ZNF45_uc002oxw.1_Missense_Mutation_p.K311N|ZNF45_uc002oxv.1_Missense_Mutation_p.K311N NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 311 C2H2-type 6. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AACTGAAGCTCTTCCCACACT 0.468 NaN 0 0 0 0.003163 0 16 47 ERCC2 2068 broad.mit.edu 37 19 45867774 45867774 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:45867774T>C uc002pbj.2 - 8 673 c.626A>G c.(625-627)TAC>TGC p.Y209C ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.Y131C|ERCC2_uc002pbk.2_Missense_Mutation_p.Y185C|ERCC2_uc002pbl.3_Missense_Mutation_p.Y185C|ERCC2_uc010xxj.1_Intron NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 209 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GAGGTAGTGGTAGCTATAAAC 0.632 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.020292 0 14 39 LMTK3 114783 broad.mit.edu 37 19 49005723 49005723 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:49005723A>G uc002pjk.2 - 8 848 c.848T>C c.(847-849)CTG>CCG p.L283P NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CAGGTGCGCCAGCCCGCGGGC 0.711 NaN 0 0 0 0.010729 0 11 70 PTH2 113091 broad.mit.edu 37 19 49925885 49925885 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:49925885C>T uc002pnn.1 - 2 245 c.143G>A c.(142-144)GGA>GAA p.G48E NM_178449 NP_848544 Q96A98 TIP39_HUMAN parathyroid hormone 2 preproprotein 48 neuropeptide signaling pathway extracellular region 0 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) CCAGGCCCGTCCTGGGGGGCG 0.756 NaN 0 0 0 0.014758 0 5 6 FUZ 80199 broad.mit.edu 37 19 50311871 50311871 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:50311871C>T uc002ppq.1 - 9 1023 c.918G>A c.(916-918)CTG>CTA p.L306L FUZ_uc002ppr.1_Silent_p.L206L|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Silent_p.L270L|FUZ_uc002ppv.1_Silent_p.L256L NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN fuzzy homolog 306 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton 0 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;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) GGCAGCGCTTCAGTTCCAGGT 0.657 NaN 0 0 0 0.020292 0 13 13 FUZ 80199 broad.mit.edu 37 19 50312751 50312751 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:50312751C>T uc002ppq.1 - 6 679 c.574G>A c.(574-576)GAG>AAG p.E192K FUZ_uc002ppr.1_Missense_Mutation_p.E92K|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.E156K|FUZ_uc002ppv.1_Missense_Mutation_p.E142K NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN fuzzy homolog 192 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton 0 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;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CACCAACCCTCTGTTGCTGCC 0.721 NaN 0 0 0 0.009096 0 4 11 ITSN2 50618 broad.mit.edu 37 2 24535188 24535188 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:24535188G>A uc002rfe.2 - 5 503 c.245C>T c.(244-246)GCT>GTT p.A82V ITSN2_uc002rff.2_Missense_Mutation_p.A82V|ITSN2_uc002rfg.2_Missense_Mutation_p.A82V|ITSN2_uc010eyd.2_Missense_Mutation_p.A82V NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 82 EH 1.|EF-hand 1. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGTTTCATAGCTATGGAGAA 0.443 NaN 0 0 0 0.00874 0 40 58 ZNF513 130557 broad.mit.edu 37 2 27603386 27603386 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:27603386C>T uc002rkk.2 - 1 208 c.8G>A c.(7-9)CGA>CAA p.R3Q ZNF513_uc002rkj.2_5'Flank NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 3 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGCTTCCTTCGGGGCATCGT 0.697 NaN 0 0 0 0.006214 0 7 8 BIRC6 57448 broad.mit.edu 37 2 32738106 32738107 + Missense_Mutation DNP GG GG AT TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:32738106_32738107GG>AT uc010ezu.2 + 54 10587_10588 c.10453_10454GG>AT c.(10453-10455)GGT>ATT p.G3485I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3485 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AGTAGAGTATGGTCTTCTGATG 0.455 NaN 0 0 0 0.004672 0 10 81 MAP4K3 8491 broad.mit.edu 37 2 39499674 39499674 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:39499674G>A uc002rro.2 - 25 1895 c.1804C>T c.(1804-1806)CGA>TGA p.R602* MAP4K3_uc002rrp.2_Nonsense_Mutation_p.R581*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.R155* NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 602 CNH. 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) GTACACCTTCGAGGGAATAGC 0.294 NaN 0 0 0 0.005524 0 32 72 SPRED2 200734 broad.mit.edu 37 2 65543912 65543912 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:65543912G>A uc002sdr.3 - 5 1079 c.544C>T c.(544-546)CAC>TAC p.H182Y SPRED2_uc010fcw.2_Missense_Mutation_p.H179Y NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 182 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 TCGTGGAGGTGGCCCAGGGTA 0.537 NaN 0 0 0 0.004482 0 9 25 SLC4A5 57835 broad.mit.edu 37 2 74531720 74531720 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:74531720T>G uc002sko.1 - 2 169 c.167A>C c.(166-168)AAA>ACA p.K56T SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.K56T|SLC4A5_uc010ffc.1_Missense_Mutation_p.K56T|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Missense_Mutation_p.K56T NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 56 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CCAGTGGACTTTTTGCAGGCC 0.572 NaN 0 0 0 0.012213 0 32 182 DQX1 165545 broad.mit.edu 37 2 74752218 74752218 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:74752218C>T uc010yrw.1 - 3 514 c.349G>A c.(349-351)GAT>AAT p.D117N DQX1_uc002smc.2_5'Flank NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 117 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 TCCATCTCATCAGCAACCCGC 0.622 NaN 0 0 0 0.013726 0 33 179 REG1B 5968 broad.mit.edu 37 2 79312628 79312628 + Silent SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:79312628A>C uc002sny.2 - 5 535 c.423T>G c.(421-423)ACT>ACG p.T141T NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 141 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 CTGAGCATGAAGTCAGGCTTG 0.547 NaN 0 0 0 0.021022 0 37 81 CTNNA2 1496 broad.mit.edu 37 2 80646672 80646672 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:80646672G>A uc010ysh.1 + 8 1241 c.1236G>A c.(1234-1236)AAG>AAA p.K412K CTNNA2_uc010yse.1_Silent_p.K412K|CTNNA2_uc010ysf.1_Silent_p.K412K|CTNNA2_uc010ysg.1_Silent_p.K412K|CTNNA2_uc010ysi.1_Silent_p.K44K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 412 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAAATGAAAAGGAAGTGAAAG 0.453 NaN 0 0 0 0.01892 0 24 64 TRIM43 129868 broad.mit.edu 37 2 96259801 96259801 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:96259801G>C uc002suv.2 + 2 166 c.30G>C c.(28-30)CAG>CAC p.Q10H NM_138800 NP_620155 Q96BQ3 TRI43_HUMAN tripartite motif-containing 43 10 intracellular zinc ion binding ovary(1) 1 ATGCCTTCCAGAAGGAACTCA 0.483 NaN 0 0 0 0.01441 0 108 99 SULT1C4 27233 broad.mit.edu 37 2 108999925 108999925 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:108999925A>G uc002tea.1 + 5 947 c.574A>G c.(574-576)AAA>GAA p.K192E SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.K117E NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 192 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 AGCCAAAGACAAACACCGTAT 0.463 NaN 0 0 0 0.01441 0 48 28 LIMS1 3987 broad.mit.edu 37 2 109292446 109292446 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:109292446C>G uc002teg.2 + 6 726 c.607C>G c.(607-609)CGC>GGC p.R203G LIMS1_uc002tef.2_Missense_Mutation_p.R215G|LIMS1_uc002teh.2_Missense_Mutation_p.R203G|LIMS1_uc002tei.2_Missense_Mutation_p.R203G|LIMS1_uc002tej.2_Missense_Mutation_p.R240G|LIMS1_uc002tek.3_Missense_Mutation_p.R265G NM_004987 NP_004978 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 203 LIM zinc-binding 4. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding 0 CATCGAAGGGCGCGTGGTGAA 0.542 NaN 0 0 0 0.007835 0 43 26 ACTR3 10096 broad.mit.edu 37 2 114713209 114713209 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:114713209A>G uc002tkx.1 + 11 1407 c.1087A>G c.(1087-1089)ATT>GTT p.I363V ACTR3_uc010yyc.1_Missense_Mutation_p.I301V|ACTR3_uc010yyd.1_Missense_Mutation_p.I312V NM_005721 NP_005712 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog 363 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding skin(1) 1 GCCAAAACCTATTGATGTACA 0.343 NaN 0 0 0 0.001984 0 7 60 CNTNAP5 129684 broad.mit.edu 37 2 125175130 125175130 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:125175130G>C uc002tno.2 + 4 856 c.492G>C c.(490-492)AAG>AAC p.K164N CNTNAP5_uc010flu.2_Missense_Mutation_p.K164N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 164 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CCAGTGGGAAGATTGGCATGA 0.498 NaN 0 0 0 0.008291 0 10 9 RIF1 55183 broad.mit.edu 37 2 152317679 152317679 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:152317679G>T uc002txm.2 + 27 3233 c.3103G>T c.(3103-3105)GTA>TTA p.V1035L RIF1_uc002txl.2_Missense_Mutation_p.V1035L|RIF1_uc002txn.2_Missense_Mutation_p.V1035L|RIF1_uc002txo.2_Missense_Mutation_p.V1035L|RIF1_uc002txp.2_5'Flank NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1035 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) GTCTTTAAAAGTAAAGGGTGA 0.318 NaN 1 0 6.31663e-08 0.003163 7.0541e-08 14 47 CYTIP 9595 broad.mit.edu 37 2 158272436 158272436 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:158272436G>A uc002tzj.1 - 8 905 c.833C>T c.(832-834)ACG>ATG p.T278M CYTIP_uc010zcl.1_Missense_Mutation_p.T172M NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 278 Ser-rich. T -> Q (in Ref. 5; AAA16575). regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 ATCTGTACTCGTCTGCCGACT 0.542 NaN 0 0 0 0.007413 0 20 50 DCAF17 80067 broad.mit.edu 37 2 172305301 172305301 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:172305301A>G uc002ugx.2 + 4 661 c.432A>G c.(430-432)ATA>ATG p.I144M DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.I144M|DCAF17_uc010zdr.1_RNA NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 isoform 1 144 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus 0 TTGAGAAAATATATCTTGCAC 0.333 NaN 0 0 0 0.012319 0 20 39 EVX2 344191 broad.mit.edu 37 2 176947052 176947052 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:176947052C>T uc010zeu.1 - 2 739 c.553G>A c.(553-555)GCG>ACG p.A185T NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 185 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) ACTTGATCCGCGCCAGAGCCG 0.721 NaN 0 0 0 0.004672 0 3 11 TTN 7273 broad.mit.edu 37 2 179433786 179433786 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:179433786A>G uc010zfg.1 - 275 69593 c.69369T>C c.(69367-69369)GAT>GAC p.D23123D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D16818D|TTN_uc010zfi.1_Silent_p.D16751D|TTN_uc010zfj.1_Silent_p.D16626D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24050 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTTAATTGGATCAGCAGTCT 0.438 NaN 0 0 0 0.013726 0 34 79 TTN 7273 broad.mit.edu 37 2 179475984 179475984 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:179475984C>T uc010zfg.1 - 219 43392 c.43168G>A c.(43168-43170)GAC>AAC p.D14390N uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8085N|TTN_uc010zfi.1_Missense_Mutation_p.D8018N|TTN_uc010zfj.1_Missense_Mutation_p.D7893N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15317 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTCCAGGTCAATTGTTGGC 0.353 NaN 0 0 0 0.020292 0 14 14 CCDC141 285025 broad.mit.edu 37 2 179742771 179742771 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:179742771C>T uc002unf.1 - 2 151 c.94G>A c.(94-96)GAG>AAG p.E32K CCDC141_uc002ung.2_Missense_Mutation_p.E607K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 32 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CACTGCTTCTCAGCCGAGTCA 0.378 NaN 0 0 0 0.01892 0 26 35 ITGA4 3676 broad.mit.edu 37 2 182347105 182347105 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:182347105G>A uc002unu.2 + 8 1622 c.859G>A c.(859-861)GAT>AAT p.D287N ITGA4_uc010zfl.1_Missense_Mutation_p.D287N NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 287 FG-GAP 4.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATTCAGCATTGATGAAAAAGA 0.308 NaN 0 0 0 0.003163 0 15 35 CALCRL 10203 broad.mit.edu 37 2 188245285 188245285 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:188245285T>C uc002upv.3 - 7 865 c.317A>G c.(316-318)GAC>GGC p.D106G CALCRL_uc010frt.2_Missense_Mutation_p.D106G NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 106 Extracellular (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TCCATCTTGGTCACAGATCTT 0.328 NaN 0 0 0 0.015359 0 35 86 DNAH7 56171 broad.mit.edu 37 2 196729415 196729415 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:196729415G>T uc002utj.3 - 41 7065 c.6964C>A c.(6964-6966)CAC>AAC p.H2322N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2322 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CTGCTGATGTGCTCTATGGCA 0.448 NaN 1 0 3.59834e-05 0.001168 3.97806e-05 5 60 DNAH7 56171 broad.mit.edu 37 2 196877531 196877531 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:196877531G>A uc002utj.3 - 10 1070 c.969C>T c.(967-969)GCC>GCT p.A323A NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 323 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GAGTCTCTTTGGCAGAGTCCA 0.323 NaN 0 0 0 0.006214 0 8 55 NIF3L1 60491 broad.mit.edu 37 2 201757014 201757014 + Silent SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:201757014T>A uc002uwm.2 + 2 439 c.348T>A c.(346-348)GCT>GCA p.A116A NIF3L1_uc002uwl.2_Silent_p.A89A|NIF3L1_uc002uwn.2_Silent_p.A89A|NIF3L1_uc002uwo.2_Silent_p.A116A|NIF3L1_uc002uwp.2_Silent_p.A116A|NIF3L1_uc002uwq.2_Silent_p.A116A NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 116 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 TGATCCGGGCTCTGGAGAACA 0.547 NaN 0 0 0 0.009535 0 30 53 IHH 3549 broad.mit.edu 37 2 219920154 219920154 + Silent SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:219920154T>G uc002vjo.1 - 3 1011 c.1011A>C c.(1009-1011)ACA>ACC p.T337T NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 337 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACCACCAGTGTCCCATGCT 0.662 NaN 0 0 0 0.021523 0 23 28 ABCB6 10058 broad.mit.edu 37 2 220075494 220075494 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:220075494T>C uc002vkc.1 - 16 2472 c.2195A>G c.(2194-2196)AAG>AGG p.K732R ABCB6_uc010fwe.1_Missense_Mutation_p.K686R NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 732 ABC transporter. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACGCGCTGCTTCTCCCCGCC 0.622 NaN 0 0 0 0.008291 0 8 28 UGT1A9 54600 broad.mit.edu 37 2 234580786 234580786 + Nonsense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:234580786C>A uc002vus.2 + 1 243 c.206C>A c.(205-207)TCA>TAA p.S69* UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Nonsense_Mutation_p.S69* NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 69 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) CTGGGAAGATCACTGAATTGC 0.498 NaN 1 0 1.36491e-13 0.016723 1.56804e-13 14 91 COL6A3 1293 broad.mit.edu 37 2 238283323 238283323 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:238283323G>A uc002vwl.2 - 8 3696 c.3411C>T c.(3409-3411)ATC>ATT p.I1137I COL6A3_uc002vwo.2_Silent_p.I931I|COL6A3_uc010znj.1_Silent_p.I530I|COL6A3_uc002vwq.2_Silent_p.I931I|COL6A3_uc002vwr.2_Silent_p.I730I NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1137 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCGTGAGGACGATCAGCAGCT 0.637 NaN 0 0 0 0.009535 0 26 43 CDC25B 994 broad.mit.edu 37 20 3781635 3781635 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:3781635G>A uc002wjn.2 + 7 1378 c.600G>A c.(598-600)AAG>AAA p.K200K CDC25B_uc010zqk.1_Silent_p.K136K|CDC25B_uc010zql.1_Silent_p.K122K|CDC25B_uc010zqm.1_Silent_p.K136K|CDC25B_uc002wjl.2_Silent_p.K88K|CDC25B_uc002wjm.2_Silent_p.K88K|CDC25B_uc002wjo.2_Silent_p.K186K|CDC25B_uc002wjp.2_Silent_p.K159K|CDC25B_uc002wjq.2_5'UTR|CDC25B_uc010gbc.2_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 200 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 TTGTCTTCAAGATGCCATGGA 0.637 NaN 0 0 0 0.013537 0 13 24 THBD 7056 broad.mit.edu 37 20 23029241 23029241 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:23029241C>T uc002wss.2 - 1 1061 c.901G>A c.(901-903)GAC>AAC p.D301N THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.D242N NM_000361 NP_000352 P07204 TRBM_HUMAN thrombomodulin precursor 301 EGF-like 2.|Extracellular (Potential). blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity 0 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CCCGGCTGGTCGGGGTTGGGA 0.697 NaN 0 0 0 0.013537 0 13 17 PHF20 51230 broad.mit.edu 37 20 34487428 34487428 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:34487428G>A uc002xek.1 + 10 1530 c.1419G>A c.(1417-1419)ATG>ATA p.M473I PHF20_uc002xei.1_Missense_Mutation_p.M473I|PHF20_uc010gfo.1_Missense_Mutation_p.M473I|PHF20_uc002xej.1_Missense_Mutation_p.M357I NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 473 C2H2-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) ACTATCACATGAAGTATTTCC 0.478 NaN 0 0 0 0.013537 0 11 29 ZHX3 23051 broad.mit.edu 37 20 39832302 39832302 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:39832302C>T uc002xjs.1 - 3 1633 c.1255G>A c.(1255-1257)GAG>AAG p.E419K ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.E419K|ZHX3_uc002xjt.1_Missense_Mutation_p.E419K|ZHX3_uc002xju.1_Missense_Mutation_p.E419K|ZHX3_uc002xjv.1_Missense_Mutation_p.E419K|ZHX3_uc002xjw.1_Missense_Mutation_p.E419K|ZHX3_uc010ggg.1_Missense_Mutation_p.E419K NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 419 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CCTGTACCCTCTGGCTGCCCC 0.582 NaN 0 0 0 0.007291 0 29 35 CYP24A1 1591 broad.mit.edu 37 20 52774035 52774035 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:52774035C>T uc002xwv.2 - 10 1724 c.1326G>A c.(1324-1326)CAG>CAA p.Q442Q CYP24A1_uc002xwu.1_Silent_p.Q300Q|CYP24A1_uc002xww.2_Intron NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 442 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TTTCCTTCTCCTGAAGCCAAC 0.428 NaN 0 0 0 0.006214 0 10 40 SYCP2 10388 broad.mit.edu 37 20 58450426 58450426 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:58450426C>G uc002yaz.2 - 33 3388 c.3249G>C c.(3247-3249)TGG>TGC p.W1083C NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1083 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATGAGTTTTTCCATTGTTTTG 0.368 NaN 0 0 0 0.010729 0 12 15 DOPEY2 9980 broad.mit.edu 37 21 37603050 37603050 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:37603050C>T uc002yvg.2 + 14 2047 c.1968C>T c.(1966-1968)TCC>TCT p.S656S DOPEY2_uc011aeb.1_Silent_p.S656S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 656 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 AAAGCAAGTCCGAGGAGCCTG 0.542 NaN 0 0 0 0.006999 0 41 46 HMGN1 3150 broad.mit.edu 37 21 40720485 40720485 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:40720485C>G uc002yxo.2 - 2 238 c.34G>C c.(34-36)GCC>CCC p.A12P HMGN1_uc002yxp.2_5'UTR|HMGN1_uc002yxq.2_5'UTR|HMGN1_uc002yxr.2_RNA NM_004965 NP_004956 P05114 HMGN1_HUMAN high-mobility group nucleosome binding domain 1 12 positive regulation of transcription elongation, DNA-dependent chromatin|cytoplasm|nucleus DNA binding breast(1) 1 Prostate(19;8.69e-07) TCCTTGGCGGCGCCTTCGGCG 0.677 NaN 0 0 0 0.001984 0 7 30 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NaN 0 0 0 0.004482 0 8 14 TRAPPC10 7109 broad.mit.edu 37 21 45507706 45507706 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:45507706C>G uc002zea.2 + 17 2835 c.2666C>G c.(2665-2667)CCA>CGA p.P889R TRAPPC10_uc010gpo.2_Missense_Mutation_p.P600R|TRAPPC10_uc011afa.1_Missense_Mutation_p.P267R|TRAPPC10_uc011afb.1_5'Flank NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 889 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CCTTCAGCCCCAGCACTCGGA 0.552 NaN 0 0 0 0.017118 0 37 58 TRAPPC10 7109 broad.mit.edu 37 21 45518410 45518410 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:45518410A>T uc002zea.2 + 21 3510 c.3341A>T c.(3340-3342)TAT>TTT p.Y1114F TRAPPC10_uc010gpo.2_Missense_Mutation_p.Y825F|TRAPPC10_uc011afa.1_Missense_Mutation_p.Y492F|TRAPPC10_uc011afb.1_Missense_Mutation_p.Y219F NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1114 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 AAGCTTATGTATGAAGGTAGG 0.249 NaN 0 0 0 0.005524 0 38 56 UFD1L 7353 broad.mit.edu 37 22 19462610 19462610 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:19462610G>A uc002zpm.2 - 3 280 c.150C>T c.(148-150)CCC>CCT p.P50P UFD1L_uc002zpo.2_Silent_p.P50P|UFD1L_uc011agy.1_Silent_p.P50P|UFD1L_uc002zpp.2_Silent_p.P3P|UFD1L_uc010grq.2_Silent_p.P3P|uc002zpq.1_5'Flank NM_005659 NP_005650 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1-like isoform A 50 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity 0 Colorectal(54;0.0993) CCAGGGCCGAGGGTGGCATAA 0.373 NaN 0 0 0 0.015359 0 31 55 ARVCF 421 broad.mit.edu 37 22 19965031 19965031 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:19965031G>A uc002zqz.2 - 9 2048 c.1777C>T c.(1777-1779)CAG>TAG p.Q593* ARVCF_uc002zqy.2_Nonsense_Mutation_p.Q115* NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 593 ARM 6. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) TCGGCCTCCTGGTACCTGTCG 0.662 NaN 0 0 0 0.01441 0 58 89 JOSD1 9929 broad.mit.edu 37 22 39095872 39095872 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:39095872G>T uc003awf.2 - 1 588 c.121C>A c.(121-123)CTC>ATC p.L41I NM_014876 NP_055691 Q15040 JOS1_HUMAN Josephin domain containing 1 41 Josephin. peptidase activity 0 Melanoma(58;0.04) ACGTTATTGAGGGCGTGGAGG 0.537 NaN 1 0 0.000602214 0.014758 0.000654258 5 195 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:41565529G>T uc003azl.3 + 26 4590 c.4195G>T c.(4195-4197)GAT>TAT p.D1399Y NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1399 D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399Y(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATCTTACCTCGATAGTGTTCA 0.338 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 1 0 1.08312e-15 0.009535 1.25085e-15 30 55 L3MBTL2 83746 broad.mit.edu 37 22 41615486 41615486 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:41615486G>A uc003azo.2 + 6 718 c.664G>A c.(664-666)GAT>AAT p.D222N L3MBTL2_uc010gyi.1_Missense_Mutation_p.D131N|L3MBTL2_uc003azn.2_RNA|uc003azp.1_5'Flank NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 222 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 GCTCAACAGTGATGCTGTGCT 0.572 NaN 0 0 0 0.009718 0 39 53 MEI1 150365 broad.mit.edu 37 22 42172208 42172208 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:42172208C>G uc003baz.1 + 21 2672 c.2647C>G c.(2647-2649)CGA>GGA p.R883G WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.R269G|MEI1_uc003bbc.1_Missense_Mutation_p.R251G|MEI1_uc010gym.1_Missense_Mutation_p.R251G|MEI1_uc003bbd.1_Missense_Mutation_p.R126G|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 883 binding central_nervous_system(1)|skin(1) 2 CGGTCTTATCCGAGGCCACTT 0.562 NaN 0 0 0 0.00874 0 41 63 ITPR1 3708 broad.mit.edu 37 3 4709127 4709127 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:4709127A>T uc003bqa.2 + 18 2128 c.1780A>T c.(1780-1782)ACT>TCT p.T594S ITPR1_uc010hca.1_Missense_Mutation_p.T579S|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.T579S NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 594 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGCTGAAGACACTATCACTGC 0.458 NaN 0 0 0 0.007835 0 43 15 NUP210 23225 broad.mit.edu 37 3 13363766 13363766 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:13363766C>T uc003bxv.1 - 35 4925 c.4842G>A c.(4840-4842)CAG>CAA p.Q1614Q NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1614 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CCGGCTTGAACTGGGACTGGC 0.557 NaN 0 0 0 0.01441 0 153 99 NEK10 152110 broad.mit.edu 37 3 27326126 27326126 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:27326126T>C uc003cdt.1 - 23 2255 c.1981A>G c.(1981-1983)ATT>GTT p.I661V NEK10_uc003cds.1_Missense_Mutation_p.I58V NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 661 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 CCCAACATAATGTTGTTTGGT 0.328 NaN 0 0 0 0.013114 0 39 55 TRANK1 9881 broad.mit.edu 37 3 36898029 36898029 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:36898029T>C uc003cgj.2 - 3 1704 c.1402A>G c.(1402-1404)ATC>GTC p.I468V NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1018 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TTGAGGTCGATCACCGCGTAC 0.537 NaN 0 0 0 0.01441 0 97 89 XYLB 9942 broad.mit.edu 37 3 38442474 38442474 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:38442474C>A uc003cic.2 + 18 1640 c.1531C>A c.(1531-1533)CAG>AAG p.Q511K XYLB_uc011ayp.1_Missense_Mutation_p.Q374K|XYLB_uc003cid.1_Missense_Mutation_p.Q433K NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 511 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GGGAGCTTCTCAGGTGAGAGA 0.493 NaN 1 0 6.70999e-13 0.019004 7.66855e-13 37 54 ANO10 55129 broad.mit.edu 37 3 43408465 43408465 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:43408465T>G uc003cmv.2 - 13 2087 c.1916A>C c.(1915-1917)CAA>CCA p.Q639P ANO10_uc011azs.1_3'UTR|ANO10_uc003cmw.2_Missense_Mutation_p.Q573P|ANO10_uc010hil.2_Missense_Mutation_p.Q449P|ANO10_uc011azt.1_Missense_Mutation_p.Q528P NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 639 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 GAGCTTCATTTGCTGTTAAGA 0.577 NaN 0 0 0 0.014758 0 4 13 SETD2 29072 broad.mit.edu 37 3 47162291 47162291 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:47162291C>T uc003cqs.2 - 3 3888 c.3835G>A c.(3835-3837)GGA>AGA p.G1279R SETD2_uc003cqv.2_Missense_Mutation_p.G1268R NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1279 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCACAAGCTCCATAGCTACTG 0.473 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.004656 0 24 50 PLXNB1 5364 broad.mit.edu 37 3 48463746 48463746 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:48463746C>T uc003csw.2 - 5 1683 c.1413G>A c.(1411-1413)CAG>CAA p.Q471Q PLXNB1_uc003csu.2_Silent_p.Q471Q|PLXNB1_uc003csx.2_Silent_p.Q471Q|PLXNB1_uc010hjx.1_RNA NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 471 Extracellular (Potential).|Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCACTGTGCTCTGGGTCATGA 0.597 NaN 0 0 0 0.001168 0 5 17 BSN 8927 broad.mit.edu 37 3 49694316 49694316 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:49694316G>A uc003cxe.3 + 5 7441 c.7327G>A c.(7327-7329)GAA>AAA p.E2443K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2443 Potential. synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACTGCAGCGGGAACAGCTAGC 0.358 NaN 0 0 0 0.00308 0 8 5 ZMYND10 51364 broad.mit.edu 37 3 50379288 50379288 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:50379288C>T uc003dag.1 - 10 1220 c.1074G>A c.(1072-1074)CAG>CAA p.Q358Q RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.Q353Q|ZMYND10_uc003dah.1_Silent_p.Q279Q NM_015896 NP_056980 O75800 ZMY10_HUMAN zinc finger, MYND domain-containing 10 358 cytoplasm protein binding|zinc ion binding lung(4)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGAACACATGCTGGAGCTGGT 0.597 NaN TSP Lung(30;0.18) 0 0 0 0.017118 0 36 32 DNAH1 25981 broad.mit.edu 37 3 52404221 52404221 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:52404221C>T uc011bef.1 + 39 6495 c.6234C>T c.(6232-6234)TTC>TTT p.F2078F NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2078 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGGACTGCTTCTTCAAGCCCT 0.572 NaN 0 0 0 0.020292 0 14 27 C3orf63 23272 broad.mit.edu 37 3 56659005 56659005 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:56659005G>C uc003did.3 - 21 4087 c.3986C>G c.(3985-3987)ACG>AGG p.T1329R C3orf63_uc003dib.3_Missense_Mutation_p.T448R|C3orf63_uc003dic.3_Missense_Mutation_p.T953R|C3orf63_uc003die.3_Missense_Mutation_p.T1390R NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1390 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) ATTCAGAAGCGTCAACAGACT 0.348 NaN 0 0 0 0.00308 0 6 60 DNASE1L3 1776 broad.mit.edu 37 3 58178462 58178462 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:58178462G>A uc003djo.1 - 8 967 c.870C>T c.(868-870)AGC>AGT p.S290S DNASE1L3_uc011bfd.1_Silent_p.S260S|DNASE1L3_uc003djp.1_Silent_p.S290S|DNASE1L3_uc003djq.1_3'UTR NM_004944 NP_004935 Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 precursor 290 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) CAGATTTTTTGCTGTTGGTGA 0.423 NaN 0 0 0 0.008361 0 30 82 CRYBG3 131544 broad.mit.edu 37 3 97661173 97661173 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:97661173G>A uc003drx.2 + 18 2930 c.2866G>A c.(2866-2868)GGA>AGA p.G956R CRYBG3_uc010hoz.1_RNA|MINA_uc003dry.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsa.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 GGACACACCTGGAGCTAAAGT 0.413 NaN 0 0 0 0.008871 0 20 48 FAM55C 91775 broad.mit.edu 37 3 101540311 101540311 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:101540311A>G uc003dvn.2 + 8 1830 c.1193A>G c.(1192-1194)AAG>AGG p.K398R FAM55C_uc010hpn.2_Missense_Mutation_p.K398R NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 398 extracellular region ovary(1)|pancreas(1)|skin(1) 3 GTGGACCAGAAGCACAACATC 0.468 NaN 0 0 0 0.010729 0 12 24 DZIP3 9666 broad.mit.edu 37 3 108343354 108343354 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:108343354G>A uc003dxd.2 + 6 861 c.439G>A c.(439-441)GAA>AAA p.E147K DZIP3_uc003dxf.1_Missense_Mutation_p.E147K|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.E147K NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 147 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AGCACTCACTGAAAGAGGAAA 0.279 NaN 0 0 0 0.013537 0 12 33 GOLGB1 2804 broad.mit.edu 37 3 121413222 121413222 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:121413222G>A uc003eei.3 - 13 6259 c.6133C>T c.(6133-6135)CTA>TTA p.L2045L GOLGB1_uc010hrc.2_Silent_p.L2050L|GOLGB1_uc003eej.3_Silent_p.L2011L|GOLGB1_uc011bjm.1_Silent_p.L1931L|GOLGB1_uc010hrd.1_Silent_p.L2009L NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2045 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ACAAATTCTAGAGCTTTAACA 0.373 NaN 0 0 0 0.01441 0 56 24 PDIA5 10954 broad.mit.edu 37 3 122865069 122865069 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:122865069C>T uc003egc.1 + 13 1161 c.1105C>T c.(1105-1107)CTC>TTC p.L369F PDIA5_uc003egd.1_RNA NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 369 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) AGTGCCTGTGCTCAGGACAAA 0.483 NaN 0 0 0 0.013537 0 12 75 SLCO2A1 6578 broad.mit.edu 37 3 133667440 133667440 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:133667440G>A uc003eqa.3 - 8 1319 c.1045C>T c.(1045-1047)CTC>TTC p.L349F SLCO2A1_uc003eqb.3_Missense_Mutation_p.L273F|SLCO2A1_uc011blv.1_Missense_Mutation_p.L168F NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 349 Extracellular (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 AACTTGTTGAGGAAGGTGGAG 0.572 NaN 0 0 0 0.009096 0 4 169 AADAC 13 broad.mit.edu 37 3 151545957 151545957 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:151545957A>G uc003eze.2 + 5 1287 c.1197A>G c.(1195-1197)CTA>CTG p.L399L NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 399 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AGGAAAATCTATAGTAAAACA 0.299 NaN 0 0 0 0.014323 0 24 12 SCHIP1 29970 broad.mit.edu 37 3 159482390 159482390 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:159482390G>A uc003fcs.1 + 2 288 c.222G>A c.(220-222)CTG>CTA p.L74L SCHIP1_uc003fcq.1_Silent_p.L150L|SCHIP1_uc003fcr.1_Silent_p.L63L|SCHIP1_uc003fct.1_Silent_p.L74L|SCHIP1_uc010hvz.1_Silent_p.L47L NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 74 cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) TGTCTGCCCTGGAGGACTATG 0.493 NaN 0 0 0 0.001984 0 6 4 NLGN1 22871 broad.mit.edu 37 3 173996714 173996714 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:173996714A>T uc003fio.1 + 6 1346 c.923A>T c.(922-924)CAA>CTA p.Q308L NLGN1_uc010hww.1_Missense_Mutation_p.Q348L|NLGN1_uc003fip.1_Missense_Mutation_p.Q308L NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 325 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTTAGTTTTCAACCTGCAAAA 0.388 NaN 0 0 0 0.013537 0 11 23 EIF4G1 1981 broad.mit.edu 37 3 184040229 184040229 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:184040229C>T uc003fnp.2 + 11 1797 c.1599C>T c.(1597-1599)GCC>GCT p.A533A EIF4G1_uc003fno.1_Silent_p.A474A|EIF4G1_uc010hxw.1_Silent_p.A369A|EIF4G1_uc003fnt.2_Silent_p.A244A|EIF4G1_uc003fnq.2_Silent_p.A446A|EIF4G1_uc003fnr.2_Silent_p.A369A|EIF4G1_uc010hxx.2_Silent_p.A540A|EIF4G1_uc003fns.2_Silent_p.A493A|EIF4G1_uc010hxy.2_Silent_p.A540A|EIF4G1_uc003fnv.3_Silent_p.A533A|EIF4G1_uc003fnu.3_Silent_p.A533A|EIF4G1_uc003fnw.2_Silent_p.A540A|EIF4G1_uc003fnx.2_Silent_p.A337A|EIF4G1_uc003fny.3_Silent_p.A337A NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 533 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCTGGATGCCTTCAAGGAGG 0.438 NaN 0 0 0 0.006214 0 8 21 ZNF721 170960 broad.mit.edu 37 4 436514 436514 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:436514C>G uc003gag.2 - 3 2433 c.1742G>C c.(1741-1743)GGA>GCA p.G581A ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G613A|ZNF721_uc010ibe.2_Missense_Mutation_p.G569A NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 581 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AGGTTTCTCTCCAGTATGAAT 0.398 NaN 0 0 0 0.00632 0 27 123 ADD1 118 broad.mit.edu 37 4 2927796 2927796 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:2927796G>T uc003gfr.2 + 14 2006 c.1818G>T c.(1816-1818)GCG>GCT p.A606A ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.A637A|ADD1_uc003gfp.2_Silent_p.A606A|ADD1_uc003gfq.2_Silent_p.A637A|ADD1_uc003gfs.2_Silent_p.A637A NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 606 A -> E (in Ref. 2; AAB05645). actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCAGCCTGCGGTCCCCCACC 0.622 NaN 1 0 6.40141e-05 0.010729 7.02399e-05 10 45 TADA2B 93624 broad.mit.edu 37 4 7045505 7045505 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:7045505G>A uc003gjw.3 + 1 350 c.199G>A c.(199-201)GAG>AAG p.E67K CCDC96_uc003gjv.2_5'Flank|TADA2B_uc010idi.2_Intron NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 67 SANT. regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 GCCCGAGGCCGAGGGCGGCTG 0.736 NaN 0 0 0 0.014758 0 4 18 TLR10 81793 broad.mit.edu 37 4 38776079 38776079 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:38776079A>T uc003gti.2 - 2 1512 c.1133T>A c.(1132-1134)ATT>AAT p.I378N TLR10_uc003gtj.2_Missense_Mutation_p.I378N|TLR10_uc003gtk.2_Missense_Mutation_p.I378N NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 378 Extracellular (Potential).|LRR 10. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 GCCATTCAAAATGAGAGTTTT 0.328 NaN 0 0 0 0.016522 0 24 37 TLR10 81793 broad.mit.edu 37 4 38776209 38776209 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:38776209T>G uc003gti.2 - 2 1382 c.1003A>C c.(1003-1005)AAT>CAT p.N335H TLR10_uc003gtj.2_Missense_Mutation_p.N335H|TLR10_uc003gtk.2_Missense_Mutation_p.N335H NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 335 LRR 8.|Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 ATTTGTGCATTTGATATTGTC 0.308 NaN 0 0 0 0.012319 0 22 20 N4BP2 55728 broad.mit.edu 37 4 40146392 40146392 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:40146392G>C uc003guy.3 + 16 5453 c.5115G>C c.(5113-5115)TTG>TTC p.L1705F N4BP2_uc010ifq.2_Missense_Mutation_p.L1625F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1608F NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1705 Smr. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TAGAACATTTGATGAGAGTTT 0.393 NaN 0 0 0 0.008291 0 10 27 GUF1 60558 broad.mit.edu 37 4 44693709 44693709 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:44693709G>A uc003gww.3 + 13 1713 c.1506G>A c.(1504-1506)ATG>ATA p.M502I NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 502 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 AGAAGAATATGATATTTATTG 0.313 NaN 0 0 0 0.021523 0 26 43 TEC 7006 broad.mit.edu 37 4 48140938 48140938 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:48140938G>A uc003gxz.2 - 16 1728 c.1637C>T c.(1636-1638)TCA>TTA p.S546L NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 546 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 CCAGACATCTGATTTGCTGCT 0.443 NaN 0 0 0 0.006122 0 17 21 SCFD2 152579 broad.mit.edu 37 4 54231440 54231440 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:54231440G>A uc003gzu.2 - 1 803 c.669C>T c.(667-669)CTC>CTT p.L223L SCFD2_uc010igm.2_Silent_p.L223L NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 223 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACAGAGAACTGAGGCCTGACA 0.547 NaN 0 0 0 0.004482 0 9 31 GSX2 170825 broad.mit.edu 37 4 54967810 54967810 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:54967810G>T uc010igp.1 + 2 900 c.636G>T c.(634-636)ACG>ACT p.T212T PDGFRA_uc003haa.2_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN GS homeobox 2 212 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) TCACTAGCACGCAACTCCTGG 0.572 NaN 1 0 2.12542e-12 0.00632 2.41649e-12 29 34 UGT2B4 7363 broad.mit.edu 37 4 70361469 70361469 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:70361469C>T uc003hek.3 - 1 158 c.111G>A c.(109-111)ATG>ATA p.M37I UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.M37I NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 37 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TCTTTATATTCATCCAGTGGC 0.468 NaN 0 0 0 0.021022 0 36 71 DCK 1633 broad.mit.edu 37 4 71863897 71863897 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:71863897G>A uc003hfx.2 + 2 493 c.205G>A c.(205-207)GAG>AAG p.E69K DCK_uc011cbb.1_5'UTR NM_000788 NP_000779 P27707 DCK_HUMAN deoxycytidine kinase 69 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity ovary(1) 1 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) AGATGAATTTGAGGTATGAAA 0.318 NaN 0 0 0 0.014323 0 21 28 BMP2K 55589 broad.mit.edu 37 4 79833000 79833000 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:79833000C>A uc003hlk.2 + 16 3465 c.3299C>A c.(3298-3300)CCA>CAA p.P1100Q PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 1100 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 ACTGTCCTGCCAGGGCGGCCA 0.522 NaN 1 0 1.22384e-17 0.013726 1.42081e-17 35 50 ADH1B 125 broad.mit.edu 37 4 100237199 100237199 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:100237199G>A uc003hus.3 - 5 507 c.423C>T c.(421-423)TTC>TTT p.F141F ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.F101F|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Silent_p.F101F NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 141 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TGGTGCCAAGGAAGTGGTGAA 0.577 NaN 0 0 0 0.01892 0 26 46 C4orf29 80167 broad.mit.edu 37 4 128930328 128930328 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:128930328T>A uc003ifr.2 + 6 742 c.424T>A c.(424-426)TTG>ATG p.L142M C4orf29_uc003ifq.1_RNA|C4orf29_uc003ifs.2_Missense_Mutation_p.L15M|C4orf29_uc003ift.2_5'Flank|C4orf29_uc003ifu.2_5'Flank|C4orf29_uc010inz.2_5'Flank|C4orf29_uc003ifv.2_5'Flank NM_001039717 NP_001034806 Q0P651 CD029_HUMAN hypothetical protein LOC80167 precursor 142 extracellular region ovary(1) 1 GGCTTCTTTATTGTTAGAAAA 0.333 NaN 0 0 0 0.004482 0 7 11 USP38 84640 broad.mit.edu 37 4 144135055 144135055 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:144135055T>G uc003ijb.2 + 9 2460 c.1926T>G c.(1924-1926)GAT>GAG p.D642E USP38_uc003ija.3_Missense_Mutation_p.D642E|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 642 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) GTATACAAGATGGTGGTCTAA 0.438 NaN 0 0 0 0.01441 0 56 124 TMEM154 201799 broad.mit.edu 37 4 153573937 153573937 + Silent SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:153573937C>A uc003imw.1 - 2 313 c.207G>T c.(205-207)CCG>CCT p.P69P NM_152680 NP_689893 Q6P9G4 TM154_HUMAN transmembrane protein 154 precursor 69 Extracellular (Potential). integral to membrane 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GATTTTCATCCGGAGCAAAGT 0.333 NaN 1 0 7.03913e-09 0.013537 7.90106e-09 10 34 FAM198B 51313 broad.mit.edu 37 4 159092463 159092463 + Missense_Mutation SNP C C T rs148186776 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:159092463C>T uc003ipp.3 - 2 517 c.65G>A c.(64-66)CGG>CAG p.R22Q uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22Q|FAM198B_uc003ipr.3_Missense_Mutation_p.R22Q|FAM198B_uc003ips.2_Missense_Mutation_p.R22Q|uc003ipt.1_RNA NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 22 Cytoplasmic (Potential). Golgi membrane|integral to membrane 0 CTTACGCACCCGCGGGACGCA 0.587 NaN 0 0 0 0.003163 0 12 39 SH3RF1 57630 broad.mit.edu 37 4 170028077 170028077 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:170028077G>A uc003isa.1 - 11 2754 c.2419C>T c.(2419-2421)CCC>TCC p.P807S NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 807 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GGAGCGATGGGAACTGCGGAG 0.587 NaN 0 0 0 0.007291 0 30 45 SH3RF1 57630 broad.mit.edu 37 4 170028181 170028181 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:170028181G>T uc003isa.1 - 11 2650 c.2315C>A c.(2314-2316)TCC>TAC p.S772Y NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 772 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CACAGGGCAGGAGCCTGCCCT 0.662 NaN 1 0 2.17888e-05 0.006214 2.41488e-05 7 21 SDHA 6389 broad.mit.edu 37 5 235398 235398 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:235398G>C uc003jao.3 + 9 1319 c.1204G>C c.(1204-1206)GTC>CTC p.V402L SDHA_uc003jan.2_Missense_Mutation_p.V402L|SDHA_uc011clv.1_Missense_Mutation_p.V402L|SDHA_uc011clw.1_Missense_Mutation_p.V354L|SDHA_uc003jap.3_Missense_Mutation_p.V402L|SDHA_uc003jaq.3_Missense_Mutation_p.V177L|SDHA_uc003jar.3_Intron NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 402 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GCCGATCCCTGTCCTCCCCAC 0.617 NaN Familial_Paragangliomas 0 0 0 0.012319 0 18 60 FASTKD3 79072 broad.mit.edu 37 5 7861273 7861273 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:7861273G>C uc003jeb.2 - 6 2010 c.1873C>G c.(1873-1875)CAA>GAA p.Q625E FASTKD3_uc011cmp.1_Missense_Mutation_p.Q327E|FASTKD3_uc003jec.2_RNA NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 625 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TGAACAACTTGATAACCGAGT 0.323 NaN 0 0 0 0.010504 0 21 48 SEMA5A 9037 broad.mit.edu 37 5 9063097 9063097 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:9063097C>T uc003jek.2 - 18 3132 c.2420G>A c.(2419-2421)CGG>CAG p.R807Q NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 807 TSP type-1 5.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AACACGCTTCCGGTTCCGAAT 0.592 NaN 0 0 0 0.004482 0 8 39 PRDM9 56979 broad.mit.edu 37 5 23526685 23526685 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:23526685A>C uc003jgo.2 + 11 1670 c.1488A>C c.(1486-1488)GAA>GAC p.E496D NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 496 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TAATGGAAGAAGAGTCCAGAA 0.448 NaN HNSCC(3;0.000094) 0 0 0 0.001168 0 6 35 PTGER4 5734 broad.mit.edu 37 5 40681893 40681893 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:40681893C>G uc003jlz.2 + 2 1390 c.798C>G c.(796-798)GCC>GCG p.A266A NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 266 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 TCGCGGGCGCCGAGATCCAGA 0.706 NaN 0 0 0 0.001168 0 6 125 ISL1 3670 broad.mit.edu 37 5 50687238 50687238 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:50687238T>C uc003jor.2 + 5 1444 c.896T>C c.(895-897)TTG>TCG p.L299S NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 299 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) GACTTCGCCTTGCAGAGTGAC 0.517 NaN 0 0 0 0.009718 0 36 80 VCAN 1462 broad.mit.edu 37 5 82817219 82817219 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:82817219C>G uc003kii.3 + 7 3450 c.3094C>G c.(3094-3096)CAG>GAG p.Q1032E VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.Q1032E|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1032 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGGAACAACTCAGGAAGAATT 0.453 NaN 0 0 0 0.004672 0 2 16 WDR36 134430 broad.mit.edu 37 5 110445967 110445967 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:110445967C>T uc003kpd.2 + 13 1691 c.1574C>T c.(1573-1575)TCT>TTT p.S525F WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 525 WD 6. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AACATGCAGTCTGGCATACAT 0.358 NaN 0 0 0 0.008361 0 29 16 TMED7-TICAM2 100302736 broad.mit.edu 37 5 114916656 114916656 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:114916656G>C uc003krd.2 - 4 1304 c.298C>G c.(298-300)CTA>GTA p.L100V TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.L269V|TICAM2_uc003krc.2_Missense_Mutation_p.L100V NM_021649 NP_067681 Q86XR7 TCAM2_HUMAN toll-like receptor adaptor molecule 2 100 TIR. I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Golgi apparatus|intrinsic to membrane|plasma membrane protein binding|transmembrane receptor activity 0 TCATCTTGTAGCAGATTCTGG 0.418 NaN 0 0 0 0.014323 0 20 128 FBN2 2201 broad.mit.edu 37 5 127693083 127693083 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:127693083T>C uc003kuu.2 - 20 2998 c.2559A>G c.(2557-2559)ATA>ATG p.I853M FBN2_uc003kuv.2_Missense_Mutation_p.I820M NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 853 EGF-like 13; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACATTCATTTATATCTACAA 0.423 NaN 0 0 0 0.007291 0 29 7 SLC27A6 28965 broad.mit.edu 37 5 128324319 128324319 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:128324319C>G uc003kuy.2 + 4 1108 c.712C>G c.(712-714)CAG>GAG p.Q238E SLC27A6_uc003kuz.2_Missense_Mutation_p.Q238E NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 238 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGTGATTAGTCAGCTGCAGGT 0.328 NaN 0 0 0 0.01441 0 53 29 AFF4 27125 broad.mit.edu 37 5 132223670 132223670 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:132223670T>C uc003kyd.2 - 16 3209 c.2801A>G c.(2800-2802)GAT>GGT p.D934G AFF4_uc011cxk.1_Missense_Mutation_p.D612G NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 934 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCAAACCTATCAGACTGAAG 0.348 NaN 0 0 0 0.010504 0 20 11 ZNF300 91975 broad.mit.edu 37 5 150275116 150275116 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:150275116G>A uc003lsy.1 - 6 1952 c.1685C>T c.(1684-1686)TCA>TTA p.S562L IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 562 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACAAGGTCTGACTTCTGAGA 0.458 NaN 0 0 0 0.015359 0 34 15 F12 2161 broad.mit.edu 37 5 176830946 176830946 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:176830946G>A uc003mgo.3 - 10 1213 c.1164C>T c.(1162-1164)GCC>GCT p.A388A F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 388 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTACAGCGCGGCGATGTAGG 0.716 NaN Hereditary_Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 6 F12 2161 broad.mit.edu 37 5 176831565 176831565 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:176831565G>A uc003mgo.3 - 8 784 c.735C>T c.(733-735)GCC>GCT p.A245A F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 245 Kringle. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCGGTAGGTGGCCTCCGAGG 0.726 NaN Hereditary_Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 10 4 MAPK9 5601 broad.mit.edu 37 5 179696343 179696343 + Missense_Mutation SNP G G T rs148710250 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:179696343G>T uc003mls.3 - 3 460 c.189C>A c.(187-189)AAC>AAA p.N63K MAPK9_uc003mlt.3_Missense_Mutation_p.N63K|MAPK9_uc010jlc.2_Missense_Mutation_p.N63K|MAPK9_uc003mlv.3_Missense_Mutation_p.N63K|MAPK9_uc011dgx.1_Missense_Mutation_p.N63K NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 63 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATGAGTTTGGTTCTGAAAAG 0.348 NaN 1 0 3.90053e-15 0.012213 4.49275e-15 34 5 PRPF4B 8899 broad.mit.edu 37 6 4059021 4059021 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:4059021C>T uc003mvv.2 + 14 2884 c.2793C>T c.(2791-2793)TAC>TAT p.Y931Y PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 931 Protein kinase. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) ACTTCATGTACATAGAAGTTG 0.313 NaN 0 0 0 0.00308 0 8 37 RREB1 6239 broad.mit.edu 37 6 7211055 7211055 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:7211055G>A uc003mxc.2 + 7 834 c.444G>A c.(442-444)GAG>GAA p.E148E RREB1_uc010jnw.2_Silent_p.E148E|RREB1_uc003mxb.2_Silent_p.E148E|RREB1_uc010jnx.2_Silent_p.E148E|RREB1_uc003mxd.2_Silent_p.E148E NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 148 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGATCCATGAGAAGGACCCTA 0.423 NaN 0 0 0 0.00632 0 30 70 PRL 5617 broad.mit.edu 37 6 22297250 22297250 + Translation_Start_Site SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:22297250G>C uc003ndp.2 - 1 481 c.-38C>G c.(-40--36)ATCTT>ATGTT PRL_uc003ndo.2_Translation_Start_Site|PRL_uc003ndq.2_Translation_Start_Site|PRL_uc003ndr.1_RNA NM_000948 NP_000939 P01236 PRL_HUMAN prolactin precursor cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding 0 Ovarian(93;0.163) CACCAGAGAAGATCTGGAAGT 0.408 NaN 0 0 0 0.004007 0 16 29 GPLD1 2822 broad.mit.edu 37 6 24433445 24433445 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:24433445G>A uc003ned.1 - 24 2517 c.2406C>T c.(2404-2406)AGC>AGT p.S802S NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 802 FG-GAP 7. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 TGATGAGGGAGCTCCCAAACC 0.453 NaN 0 0 0 0.00499 0 17 163 GPLD1 2822 broad.mit.edu 37 6 24454389 24454389 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:24454389C>T uc003ned.1 - 14 1300 c.1189G>A c.(1189-1191)GAC>AAC p.D397N GPLD1_uc010jpr.1_Missense_Mutation_p.D234N|GPLD1_uc010jps.1_Missense_Mutation_p.D397N NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 397 FG-GAP 1. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 ACCACGAGGTCACCGTGCCCA 0.612 NaN 0 0 0 0.008871 0 20 30 HIST1H2BI 8346 broad.mit.edu 37 6 26273432 26273432 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:26273432G>A uc003nhk.2 + 1 229 c.229G>A c.(229-231)GAG>AAG p.E77K HIST1H3G_uc003nhi.2_5'Flank NM_003525 NP_003516 P62807 H2B1C_HUMAN histone cluster 1, H2bi 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CATTGCAGGCGAGGCTTCCCG 0.587 NaN 0 0 0 0.010818 0 32 111 ZFP57 346171 broad.mit.edu 37 6 29641397 29641397 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:29641397C>A uc011dlw.1 - 4 642 c.491G>T c.(490-492)CGG>CTG p.R164L ZFP57_uc003nnl.3_Missense_Mutation_p.R144L NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 80 KRAB. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 TTGAAGCACCCGGGTCCTGTC 0.572 NaN 1 0 5.50884e-06 0.013537 6.12093e-06 13 187 BAT5 7920 broad.mit.edu 37 6 31668761 31668761 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:31668761C>G uc003nvy.1 - 4 331 c.301G>C c.(301-303)GGG>CGG p.G101R BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.G68R|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.L2L NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 101 Helical; (Potential). integral to membrane hydrolase activity|protein binding 0 AGCAATGTCCCAGCATAGTGA 0.507 NaN 0 0 0 0.013537 0 11 60 FKBP5 2289 broad.mit.edu 37 6 35588041 35588041 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:35588041G>C uc011dte.1 - 4 464 c.261C>G c.(259-261)ATC>ATG p.I87M FKBP5_uc003okx.2_Missense_Mutation_p.I87M|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.I87M|FKBP5_uc003okz.2_Missense_Mutation_p.I87M NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 87 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 CCCATGCCTTGATGACTTGGC 0.403 NaN 0 0 0 0.009718 0 40 41 CCND3 896 broad.mit.edu 37 6 41908297 41908297 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:41908297C>G uc003orn.2 - 2 390 c.225G>C c.(223-225)GAG>GAC p.E75D CCND3_uc003orp.2_5'UTR|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_5'UTR|CCND3_uc003orm.2_Missense_Mutation_p.E25D|CCND3_uc003oro.2_Intron|CCND3_uc011dul.1_Intron NM_001760 NP_001751 P30281 CCND3_HUMAN cyclin D3 isoform 2 75 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding 0 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGAAGACTTCCTCCTCACAGC 0.647 NaN T IGH@ MM 0 0 0 0.005524 0 37 38 KLHDC3 116138 broad.mit.edu 37 6 42985893 42985893 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:42985893T>G uc003otl.2 + 5 627 c.458T>G c.(457-459)TTT>TGT p.F153C KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Intron|KLHDC3_uc003otn.2_Missense_Mutation_p.F37C|KLHDC3_uc003oto.2_Missense_Mutation_p.F94C NM_057161 NP_476502 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 153 Kelch 3. reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding upper_aerodigestive_tract(1) 1 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCGGACTGTTTTTCCAATGAC 0.473 NaN 0 0 0 0.01441 0 62 38 SLC29A1 2030 broad.mit.edu 37 6 44201158 44201158 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:44201158G>C uc003owu.1 + 13 1593 c.1264G>C c.(1264-1266)GTG>CTG p.V422L SLC29A1_uc003owv.1_Missense_Mutation_p.V422L|SLC29A1_uc003oww.1_Missense_Mutation_p.V501L|SLC29A1_uc003owx.1_Missense_Mutation_p.V422L|SLC29A1_uc003owy.1_Missense_Mutation_p.V422L|SLC29A1_uc003owz.1_Missense_Mutation_p.V422L NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 422 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) GCTTAGGAAAGTGAAGCCAGC 0.597 NaN 0 0 0 0.010771 0 38 125 DST 667 broad.mit.edu 37 6 56458781 56458781 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:56458781A>T uc003pdf.2 - 42 6077 c.6049T>A c.(6049-6051)TTA>ATA p.L2017I DST_uc003pcz.3_Missense_Mutation_p.L1839I|DST_uc011dxj.1_Missense_Mutation_p.L1868I|DST_uc011dxk.1_Missense_Mutation_p.L1879I|DST_uc003pcy.3_Missense_Mutation_p.L1513I|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3925 Spectrin 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AACTTTTCTAATTCTTCCTGC 0.423 NaN 0 0 0 0.00874 0 42 45 TFB1M 51106 broad.mit.edu 37 6 155619653 155619653 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:155619653C>G uc003qqj.3 - 3 416 c.352G>C c.(352-354)GAA>CAA p.E118Q TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) AAAGCCTTTTCTACCTTAAAT 0.338 NaN 0 0 0 0.01892 0 20 19 TBP 6908 broad.mit.edu 37 6 170871088 170871088 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:170871088G>A uc003qxt.2 + 3 496 c.264G>A c.(262-264)CAG>CAA p.Q88Q TBP_uc003qxu.2_Silent_p.Q88Q|TBP_uc011ehf.1_Silent_p.Q68Q|TBP_uc011ehg.1_Silent_p.Q88Q NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 88 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.199 NaN 0 0 0 0.014758 0 4 20 MEOX2 4223 broad.mit.edu 37 7 15725691 15725691 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:15725691C>T uc003stc.2 - 1 618 c.337G>A c.(337-339)GAC>AAC p.D113N MEOX2_uc011jxw.1_Missense_Mutation_p.D113N NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 113 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CCTCCAGAGTCGGGCTGGAGG 0.627 NaN 0 0 0 0.001984 0 7 6 AOAH 313 broad.mit.edu 37 7 36671706 36671706 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:36671706A>C uc003tfh.3 - 6 858 c.457T>G c.(457-459)TCT>GCT p.S153A AOAH_uc010kxf.2_Missense_Mutation_p.S153A|AOAH_uc011kba.1_Missense_Mutation_p.S121A NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 153 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 CCACTTCTAGAATATTTCTGG 0.393 NaN 0 0 0 0.001984 0 6 12 GLI3 2737 broad.mit.edu 37 7 42005045 42005045 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:42005045G>A uc011kbh.1 - 15 3717 c.3626C>T c.(3625-3627)CCT>CTT p.P1209L GLI3_uc011kbg.1_Missense_Mutation_p.P1150L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1209 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCCCCCAGCAGGCCCGCTCCT 0.652 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.009096 0 4 104 ABCA13 154664 broad.mit.edu 37 7 48308595 48308595 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:48308595C>T uc003toq.2 + 16 2049 c.2024C>T c.(2023-2025)CCT>CTT p.P675L ABCA13_uc010kyr.2_Missense_Mutation_p.P178L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 675 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GAGGAATCTCCTTGTTTTGAA 0.289 NaN 0 0 0 0.014758 0 5 27 AUTS2 26053 broad.mit.edu 37 7 69364285 69364285 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:69364285T>G uc003tvw.3 + 2 1066 c.323T>G c.(322-324)CTT>CGT p.L108R AUTS2_uc003tvv.3_Missense_Mutation_p.L108R|AUTS2_uc003tvx.3_Missense_Mutation_p.L108R NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 108 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GATGTAGCACTTAAGCCTCAG 0.443 NaN 0 0 0 0.010729 0 11 41 DNAJC30 84277 broad.mit.edu 37 7 73097379 73097379 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:73097379G>A uc003tys.1 - 1 403 c.375C>T c.(373-375)GTC>GTT p.V125V WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank NM_032317 NP_115693 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog subfamily C member 30 125 protein folding heat shock protein binding|unfolded protein binding 0 TGGAGGGCCGGACGCCAGGTC 0.741 NaN 0 0 0 0.004482 0 9 14 HIP1 3092 broad.mit.edu 37 7 75178216 75178216 + Silent SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:75178216A>T uc003uds.1 - 23 2420 c.2379T>A c.(2377-2379)GCT>GCA p.A793A HIP1_uc011kfz.1_Silent_p.A670A NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 793 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CAGTTTCAATAGCAGCTGAAG 0.552 NaN T PDGFRB CMML 0 0 0 0.01441 0 59 139 HIP1 3092 broad.mit.edu 37 7 75178225 75178225 + Silent SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:75178225A>C uc003uds.1 - 23 2411 c.2370T>G c.(2368-2370)ACT>ACG p.T790T HIP1_uc011kfz.1_Silent_p.T667T NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 790 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 TAGCAGCTGAAGTGGCCGCCA 0.567 NaN T PDGFRB CMML 0 0 0 0.01441 0 62 134 SEMA3D 223117 broad.mit.edu 37 7 84751131 84751131 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:84751131C>T uc003uic.2 - 1 117 c.77G>A c.(76-78)AGC>AAC p.S26N SEMA3D_uc010led.2_Missense_Mutation_p.S26N|SEMA3D_uc010lee.1_Missense_Mutation_p.S26N NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 26 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 CATGGTCATGCTTAGCATCAT 0.333 NaN 0 0 0 0.006122 0 12 24 KIAA1324L 222223 broad.mit.edu 37 7 86554951 86554951 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:86554951C>A uc011kha.1 - 10 1477 c.1292G>T c.(1291-1293)GGA>GTA p.G431V KIAA1324L_uc003uif.1_Missense_Mutation_p.G191V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.G317V|KIAA1324L_uc003uie.2_Missense_Mutation_p.G264V NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 431 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) AGGCTCCGTTCCTGCTGGACA 0.418 NaN 1 0 2.32078e-09 0.003163 2.61832e-09 16 48 PTCD1 26024 broad.mit.edu 37 7 99032712 99032712 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:99032712G>A uc003uqh.2 - 2 285 c.154C>T c.(154-156)CAG>TAG p.Q52* PTCD1_uc011kiw.1_Nonsense_Mutation_p.Q101* NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 52 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AGGGGCAGCTGAGAGGAGGAG 0.657 NaN 0 0 0 0.007413 0 20 18 RELN 5649 broad.mit.edu 37 7 103214579 103214579 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:103214579T>C uc003vca.2 - 30 4631 c.4471A>G c.(4471-4473)AGG>GGG p.R1491G RELN_uc010liz.2_Missense_Mutation_p.R1491G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1491 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGGGCTTCCCTTTTCCCAGGG 0.468 NaN 0 0 0 0.009096 0 3 119 CBLL1 79872 broad.mit.edu 37 7 107398668 107398668 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:107398668G>A uc003veq.2 + 6 851 c.521G>A c.(520-522)AGA>AAA p.R174K CBLL1_uc011kme.1_Missense_Mutation_p.R53K|CBLL1_uc011kmf.1_Missense_Mutation_p.R173K NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 174 C2H2-type. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 GGGTGCAAGAGAACATATTTG 0.433 NaN 0 0 0 0.004007 0 15 52 GRM8 2918 broad.mit.edu 37 7 126086316 126086316 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:126086316C>T uc003vlr.2 - 9 2852 c.2541G>A c.(2539-2541)CAG>CAA p.Q847Q GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.Q847Q|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 847 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTTGAACATTCTGTTCTGGAT 0.423 NaN HNSCC(24;0.065) 0 0 0 0.010504 0 20 37 FLNC 2318 broad.mit.edu 37 7 128486934 128486934 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:128486934C>G uc003vnz.3 + 24 4472 c.4263C>G c.(4261-4263)ATC>ATG p.I1421M FLNC_uc003voa.3_Missense_Mutation_p.I1421M NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1421 Filamin 12. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 ACGTCAACATCACCTTCGGGG 0.602 NaN 0 0 0 0.010504 0 19 34 CALD1 800 broad.mit.edu 37 7 134643018 134643018 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:134643018G>A uc003vrz.2 + 11 2497 c.2038G>A c.(2038-2040)GAG>AAG p.E680K CALD1_uc003vry.2_Missense_Mutation_p.E425K|CALD1_uc003vsa.2_Missense_Mutation_p.E451K|CALD1_uc003vsb.2_Missense_Mutation_p.E425K|CALD1_uc010lmm.2_Missense_Mutation_p.E450K|CALD1_uc011kpt.1_Missense_Mutation_p.E199K|CALD1_uc003vsc.2_Missense_Mutation_p.E445K|CALD1_uc003vsd.2_Missense_Mutation_p.E419K|CALD1_uc011kpu.1_Missense_Mutation_p.E430K|CALD1_uc011kpv.1_Missense_Mutation_p.E289K|CALD1_uc003vse.2_Missense_Mutation_p.E543K|CALD1_uc010lmn.2_5'Flank NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 680 Strong actin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 CAGCAGACTGGAGCAGTATAC 0.388 NaN 0 0 0 0.01441 0 59 49 UBN2 254048 broad.mit.edu 37 7 138936757 138936757 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:138936757G>C uc011kqr.1 + 3 617 c.617G>C c.(616-618)GGC>GCC p.G206A NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 206 ovary(1)|skin(1) 2 ATTGATATAGGCTTTGGCTAT 0.383 NaN 0 0 0 0.016522 0 21 56 DNAJB6 10049 broad.mit.edu 37 7 157160089 157160089 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:157160089A>G uc003wnk.2 + 5 412 c.258A>G c.(256-258)CCA>CCG p.P86P DNAJB6_uc003wnj.2_Silent_p.P86P|DNAJB6_uc003wnl.2_Silent_p.P73P|DNAJB6_uc011kvy.1_Silent_p.P37P|DNAJB6_uc011kvz.1_Silent_p.P86P|DNAJB6_uc010lqt.2_Silent_p.P86P NM_058246 NP_490647 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 86 Gly/Phe-rich.|Interaction with HSP70. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding ovary(2) 2 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TTGACAGTCCATTTGAATTTG 0.363 NaN 0 0 0 0.009718 0 39 55 MYST3 7994 broad.mit.edu 37 8 41791525 41791525 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:41791525C>T uc010lxb.2 - 18 4757 c.4213G>A c.(4213-4215)GAG>AAG p.E1405K MYST3_uc010lxc.2_Missense_Mutation_p.E1405K|MYST3_uc003xon.3_Missense_Mutation_p.E1405K NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1405 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TCGATTAACTCTTCCTTAGTG 0.498 NaN 0 0 0 0.016522 0 25 141 TRIM55 84675 broad.mit.edu 37 8 67086715 67086715 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:67086715G>C uc003xvv.2 + 10 1760 c.1534G>C c.(1534-1536)GAG>CAG p.E512Q TRIM55_uc003xvu.2_Nonstop_Mutation_p.*541S|TRIM55_uc003xvw.2_Missense_Mutation_p.E416Q|TRIM55_uc003xvx.2_Missense_Mutation_p.E205Q NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 512 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GATTGGATTTGAGGCTCCTCC 0.468 NaN 0 0 0 0.003163 0 16 65 TRPA1 8989 broad.mit.edu 37 8 72959440 72959440 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:72959440T>C uc003xza.2 - 16 2083 c.1908A>G c.(1906-1908)GTA>GTG p.V636V uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 636 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AATCTAAAAGTACCTTTGAAA 0.308 NaN 0 0 0 0.016723 0 11 48 VPS13B 157680 broad.mit.edu 37 8 100396448 100396448 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:100396448T>C uc003yiv.2 + 20 2948 c.2837T>C c.(2836-2838)CTT>CCT p.L946P VPS13B_uc003yiw.2_Missense_Mutation_p.L946P|VPS13B_uc003yiu.1_Missense_Mutation_p.L946P|VPS13B_uc003yix.1_Missense_Mutation_p.L417P NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 946 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCTGTACTTCTTTGCAGTATA 0.279 NaN 0 0 0 0.006214 0 9 257 VPS13B 157680 broad.mit.edu 37 8 100523432 100523432 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:100523432C>T uc003yiv.2 + 29 4511 c.4400C>T c.(4399-4401)TCA>TTA p.S1467L VPS13B_uc003yiw.2_Missense_Mutation_p.S1442L|VPS13B_uc003yix.1_Missense_Mutation_p.S937L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1467 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGTTAACATCAAGAAATGAG 0.378 NaN 0 0 0 0.01441 0 142 22 DPYS 1807 broad.mit.edu 37 8 105405182 105405182 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:105405182A>C uc003yly.3 - 8 1402 c.1273T>G c.(1273-1275)TTC>GTC p.F425V DPYS_uc010mcf.1_5'UTR NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 425 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAAATGTTGAAGTTAACAGCC 0.423 NaN 0 0 0 0.006214 0 9 56 ZFPM2 23414 broad.mit.edu 37 8 106814151 106814151 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:106814151C>A uc003ymd.2 + 8 1864 c.1841C>A c.(1840-1842)GCT>GAT p.A614D ZFPM2_uc011lhs.1_Missense_Mutation_p.A345D NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 614 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCTCATTCTGCTGATCCTGAG 0.463 NaN 1 0 3.86212e-05 0.008291 4.24833e-05 11 62 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:20414343A>G uc003zoe.2 - 5 760 c.501T>C c.(499-501)AGT>AGC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.139 NaN T MLL ALL 0 0 0 0.014758 0 4 41 APTX 54840 broad.mit.edu 37 9 32974519 32974519 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:32974519G>A uc003zrm.2 - 6 1008 c.811C>T c.(811-813)CCT>TCT p.P271S APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Missense_Mutation_p.P183S|APTX_uc011lns.1_Missense_Mutation_p.P92S|APTX_uc003zrl.2_Missense_Mutation_p.P97S|APTX_uc003zrn.2_Missense_Mutation_p.P183S|APTX_uc003zro.2_Missense_Mutation_p.P271S|APTX_uc003zrp.2_Missense_Mutation_p.P183S|APTX_uc003zrq.2_Missense_Mutation_p.P183S|APTX_uc003zrr.2_Missense_Mutation_p.P217S|APTX_uc003zrs.2_Missense_Mutation_p.P271S|APTX_uc003zrt.2_Missense_Mutation_p.P183S|APTX_uc003zru.2_Missense_Mutation_p.P217S|APTX_uc003zrv.2_Missense_Mutation_p.P285S|APTX_uc003zrw.2_Missense_Mutation_p.P199S|APTX_uc003zrx.2_Missense_Mutation_p.P271S|APTX_uc003zry.2_Missense_Mutation_p.P271S|APTX_uc003zrz.2_Missense_Mutation_p.P92S NM_175072 NP_778242 Q7Z2E3 APTX_HUMAN aprataxin isoform c 285 HIT. cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) TTAAGGCAAGGAGAATCAAAA 0.318 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.005443 0 25 34 NFX1 4799 broad.mit.edu 37 9 33366702 33366702 + Missense_Mutation SNP C C A rs35178105 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:33366702C>A uc003zsq.2 + 22 3176 c.3115C>A c.(3115-3117)CAA>AAA p.Q1039K SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Missense_Mutation_p.Q1040K NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 1039 R3H. inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TGACTTGGCCCAAGTTTATGG 0.517 NaN 1 0 2.6416e-12 0.00623 2.99563e-12 40 63 FRMD3 257019 broad.mit.edu 37 9 86153040 86153040 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:86153040A>G uc004ams.1 - 1 309 c.107T>C c.(106-108)ATC>ACC p.I36T FRMD3_uc004amr.1_Missense_Mutation_p.I22T NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 36 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 CAGCAGCCGGATGGTGCATCT 0.652 NaN 0 0 0 0.004482 0 9 16 NTRK2 4915 broad.mit.edu 37 9 87338604 87338604 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:87338604A>T uc004aoa.1 + 9 1638 c.700A>T c.(700-702)AAC>TAC p.N234Y NTRK2_uc004anv.1_Missense_Mutation_p.N234Y|NTRK2_uc004any.1_Missense_Mutation_p.N234Y|NTRK2_uc004anz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lsz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lta.1_Missense_Mutation_p.N234Y|NTRK2_uc004aob.1_Missense_Mutation_p.N234Y|NTRK2_uc011ltb.1_Missense_Mutation_p.N78Y NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 234 Extracellular (Potential).|Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 GGATGTTGGTAACCTGGTTTC 0.433 NaN TSP Lung(25;0.17) 0 0 0 0.007413 0 17 88 CDK5RAP2 55755 broad.mit.edu 37 9 123151529 123151529 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:123151529G>A uc004bkf.2 - 38 5848 c.5667C>T c.(5665-5667)AGC>AGT p.S1889S CDK5RAP2_uc010mvi.2_Silent_p.S898S|CDK5RAP2_uc004bke.2_Silent_p.S1174S|CDK5RAP2_uc004bkg.2_Silent_p.S1810S|CDK5RAP2_uc011lxw.1_Silent_p.S1154S|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.S1154S|CDK5RAP2_uc011lya.1_Silent_p.S1154S NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1889 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 AGCCTGGTCTGCTGGGACTGC 0.473 NaN 0 0 0 0.004482 0 9 9 CDK5RAP2 55755 broad.mit.edu 37 9 123169489 123169489 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:123169489G>A uc004bkf.2 - 32 4945 c.4764C>T c.(4762-4764)TTC>TTT p.F1588F CDK5RAP2_uc010mvi.2_Silent_p.F597F|CDK5RAP2_uc004bke.2_Silent_p.F873F|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Silent_p.F853F|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.F853F|CDK5RAP2_uc011lya.1_Silent_p.F853F|CDK5RAP2_uc004bkh.1_Silent_p.F1358F|CDK5RAP2_uc004bki.2_3'UTR NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1588 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 GCAGGTCCCTGAAAGGATCCT 0.567 NaN 0 0 0 0.010504 0 19 40 CDK5RAP2 55755 broad.mit.edu 37 9 123170639 123170639 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:123170639T>A uc004bkf.2 - 31 4893 c.4712A>T c.(4711-4713)CAC>CTC p.H1571L CDK5RAP2_uc010mvi.2_Missense_Mutation_p.H580L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.H856L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.H1571L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.H836L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H1341L|CDK5RAP2_uc004bki.2_Missense_Mutation_p.H1338L NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1571 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CAGTCTCCTGTGCTCTTCATC 0.557 NaN 0 0 0 0.021022 0 36 35 RBM18 92400 broad.mit.edu 37 9 125009805 125009805 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:125009805G>A uc004bma.2 - 4 485 c.319C>T c.(319-321)CAA>TAA p.Q107* RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron NM_033117 NP_149108 Q96H35 RBM18_HUMAN RNA binding motif protein 18 107 nucleotide binding|RNA binding 0 ACCTTTACTTGAGCATGTGCC 0.498 NaN 0 0 0 0.013537 0 13 30 GARNL3 84253 broad.mit.edu 37 9 130147318 130147318 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:130147318C>T uc011mae.1 + 24 2683 c.2282C>T c.(2281-2283)CCG>CTG p.P761L GARNL3_uc011mad.1_Missense_Mutation_p.P739L|GARNL3_uc010mxi.2_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 761 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TGTGCTTTCCCGTATCTCCTG 0.617 NaN 0 0 0 0.021523 0 24 65 FAM73B 84895 broad.mit.edu 37 9 131802905 131802905 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:131802905T>C uc004bxa.2 + 2 218 c.32T>C c.(31-33)ATG>ACG p.M11T FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.M11T NM_032809 NP_116198 Q7L4E1 FA73B_HUMAN hypothetical protein LOC84895 11 Helical; (Potential). integral to membrane skin(1) 1 GGCACGTCTATGATCCAGGCC 0.597 NaN 0 0 0 0.00874 0 40 47 MED27 9442 broad.mit.edu 37 9 134955168 134955169 + Nonsense_Mutation DNP GG GG AA TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:134955168_134955169GG>AA uc004cbe.1 - 1 85_86 c.63_64CC>TT c.(61-66)ATCCAG>ATTTAG p.Q22* MED27_uc004cbf.1_Nonsense_Mutation_p.Q22*|MED27_uc011mco.1_Nonsense_Mutation_p.Q22*|MED27_uc004cbg.3_Nonsense_Mutation_p.Q22* NM_004269 NP_004260 Q6P2C8 MED27_HUMAN mediator complex subunit 27 22 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity skin(1) 1 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) CGCAGCGCCTGGATGGCACTAA 0.609 NaN 0 0 0 0.004672 0 17 12 SHROOM2 357 broad.mit.edu 37 X 9900215 9900215 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:9900215A>G uc004csu.1 + 6 2982 c.2892A>G c.(2890-2892)AGA>AGG p.R964R SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 964 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CTTCCTCTAGACAAGCAGATG 0.502 NaN 0 0 0 0.004656 0 27 16 GPR64 10149 broad.mit.edu 37 X 19014182 19014182 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:19014182C>G uc004cyx.2 - 27 2867 c.2703G>C c.(2701-2703)CTG>CTC p.L901L GPR64_uc004cyy.2_Silent_p.L898L|GPR64_uc004cyz.2_Silent_p.L887L|GPR64_uc004czb.2_Silent_p.L901L|GPR64_uc004czc.2_Silent_p.L885L|GPR64_uc004czd.2_Silent_p.L877L|GPR64_uc004cze.2_Silent_p.L871L|GPR64_uc004czf.2_Silent_p.L863L|GPR64_uc004cza.2_Silent_p.L879L|GPR64_uc004cyw.2_Silent_p.L885L|GPR64_uc010nfj.2_Silent_p.L782L NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 901 Cytoplasmic (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) AATTTTCAGCCAGCCGTAACT 0.363 NaN 0 0 0 0.01441 0 50 16 MAP3K15 389840 broad.mit.edu 37 X 19389508 19389508 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:19389508C>T uc004czk.1 - 24 3311 c.1674G>A c.(1672-1674)TCG>TCA p.S558S MAP3K15_uc004czj.1_Silent_p.S518S|MAP3K15_uc004czi.1_Silent_p.S17S NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 1083 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) GACTGATGGACGAGCTGTCAA 0.522 NaN 0 0 0 0.011902 0 43 13 PRDX4 10549 broad.mit.edu 37 X 23700610 23700610 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:23700610C>G uc004dam.2 + 5 740 c.697C>G c.(697-699)CAA>GAA p.Q233E NM_006406 NP_006397 Q13162 PRDX4_HUMAN peroxiredoxin 4 233 Thioredoxin. cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity upper_aerodigestive_tract(1) 1 ACGTTTGGTTCAAGCATTCCA 0.378 NaN 0 0 0 0.01441 0 46 7 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:44922802C>T uc004dge.3 + 16 2038 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGCGTCTCTCAGCCTGGAGT 0.567 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.004007 0 17 6 SLC9A7 84679 broad.mit.edu 37 X 46529104 46529104 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:46529104G>A uc004dgu.1 - 5 739 c.731C>T c.(730-732)TCA>TTA p.S244L SLC9A7_uc004dgv.1_Missense_Mutation_p.S244L NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 244 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 AAATTTATCTGAGAGCTGTCC 0.348 NaN 0 0 0 0.020292 0 15 5 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs5902610 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:66765161A>T uc004dwu.1 + 1 1288 c.173A>T c.(172-174)CAG>CTG p.Q58L AR_uc011mpd.1_Missense_Mutation_p.Q58L|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.Q58L NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 58 Modulating.|Poly-Gln.|Gln-rich. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.328 NaN Androgen_Insensitivity_Syndrome 0 0 0 0.00308 0 6 16 SRPX2 27286 broad.mit.edu 37 X 99919817 99919817 + Silent SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:99919817C>A uc004egb.2 + 5 882 c.402C>A c.(400-402)ACC>ACA p.T134T NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 134 Sushi 2. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 GCACTTACACCTGCACAAATG 0.512 NaN 1 0 0.004672 0.004672 0.00502611 3 13 TCEAL2 140597 broad.mit.edu 37 X 101381895 101381895 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:101381895A>C uc004eip.2 + 3 312 c.93A>C c.(91-93)GAA>GAC p.E31D NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GAAAGCCAGAAGTAGCTTGTA 0.418 NaN 0 0 0 0.009096 0 3 40 IL1RAPL2 26280 broad.mit.edu 37 X 105011334 105011334 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:105011334C>A uc004elz.1 + 11 2497 c.1741C>A c.(1741-1743)CTC>ATC p.L581I NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 581 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TTTTGGAGAACTCCAGCCTAT 0.453 NaN 1 0 5.18039e-06 0.00308 5.77056e-06 7 54 RNF113A 7737 broad.mit.edu 37 X 119005263 119005263 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:119005263G>A uc004esb.2 - 1 529 c.314C>T c.(313-315)TCG>TTG p.S105L NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 105 nucleic acid binding|zinc ion binding breast(2) 2 GGGTTTCGCCGAACGGGTGGA 0.557 NaN 0 0 0 0.01441 0 194 31 FAM122C 159091 broad.mit.edu 37 X 133979245 133979245 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:133979245T>C uc004exz.1 + 4 662 c.257T>C c.(256-258)ATG>ACG p.M86T FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Missense_Mutation_p.M86T NM_138819 NP_620174 Q6P4D5 F222C_HUMAN hypothetical protein LOC159091 86 0 Acute lymphoblastic leukemia(192;0.000127) GAAGAAGCCATGGATTTAATA 0.279 NaN 0 0 0 0.01441 0 109 27 GPR112 139378 broad.mit.edu 37 X 135431715 135431715 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:135431715G>C uc004ezu.1 + 6 6141 c.5850G>C c.(5848-5850)GGG>GGC p.G1950G GPR112_uc010nsb.1_Silent_p.G1745G|GPR112_uc010nsc.1_Silent_p.G1717G NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1950 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CTAACCATGGGCTTTCTGAGA 0.413 NaN 0 0 0 0.01441 0 82 18 FGF13 2258 broad.mit.edu 37 X 137717743 137717743 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:137717743A>G uc004fam.2 - 4 1138 c.476T>C c.(475-477)ATA>ACA p.I159T FGF13_uc004fan.2_Missense_Mutation_p.I106T|FGF13_uc011mwi.1_Missense_Mutation_p.I140T|FGF13_uc004faq.2_Missense_Mutation_p.I169T|FGF13_uc004far.2_Missense_Mutation_p.I140T|FGF13_uc011mwj.1_Missense_Mutation_p.I169T|FGF13_uc011mwk.1_Missense_Mutation_p.I113T NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 159 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTGACGGTATATCATTGATGA 0.398 NaN 0 0 0 0.01441 0 53 6 FMR1 2332 broad.mit.edu 37 X 147014278 147014278 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:147014278A>G uc010nst.2 + 9 1065 c.876A>G c.(874-876)TTA>TTG p.L292L FMR1_uc011mwz.1_Silent_p.L292L|FMR1_uc004fcj.2_Silent_p.L292L|FMR1_uc004fck.3_Silent_p.L292L|FMR1_uc004fcl.3_Silent_p.L153L|FMR1_uc011mxa.1_5'UTR NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 292 KH 2. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAAGGAACTTAGTAGGTAAGT 0.328 NaN Fragile_X_syndrome 0 0 0 0.008361 0 31 11 PLXNB3 5365 broad.mit.edu 37 X 153043511 153043511 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:153043511C>T uc004fii.2 + 32 5544 c.5370C>T c.(5368-5370)TTC>TTT p.F1790F PLXNB3_uc010nuk.2_Silent_p.F1813F|PLXNB3_uc011mzd.1_Silent_p.F1429F|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1790 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAGACCTTCATTGACTCCT 0.572 NaN 0 0 0 0.009535 0 29 6 PADI2 11240 broad.mit.edu 37 1 17402183 17402190 + Frame_Shift_Del DEL GGGGATGG GGGGATGG - rs146438183 byFrequency TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:17402183_17402190delGGGGATGG uc001baf.2 - 12 1521_1528 c.1439_1446delCCATCCCC c.(1438-1446)CCCATCCCCfs p.P480fs PADI2_uc010ocm.1_Frame_Shift_Del_p.P364fs NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 480_482 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CCTTTGTGCCGGGGATGGGGACAAAGGA 0.591 NaN OREG0013145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 36 52 --- --- CSTF2T 23283 broad.mit.edu 37 10 53459010 53459012 + In_Frame_Del DEL CTC CTC - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:53459010_53459012delCTC uc001jjp.2 - 1 344_346 c.298_300delGAG c.(298-300)GAGdel p.E100del PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 100 mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GGCTCTTTAACTCCTCCTTATTC 0.557 NaN NaN NaN NaN NaN NaN 21 107 --- --- DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - rs61747093 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1577819_1577820delCG uc001lts.2 - 7 1934_1935 c.1806_1807delCG c.(1804-1809)CGCGGCfs p.R602fs NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 602_603 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 NaN NaN NaN NaN NaN NaN 4 5 --- --- MTUS2 23281 broad.mit.edu 37 13 30077186 30077188 + In_Frame_Del DEL AGA AGA - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:30077186_30077188delAGA uc001usl.3 + 14 4041_4043 c.3983_3985delAGA c.(3982-3987)GAGAAG>GAG p.K1330del MTUS2_uc001usm.3_In_Frame_Del_p.K299del|MTUS2_uc010aau.2_In_Frame_Del_p.K209del|MTUS2_uc010tdq.1_In_Frame_Del_p.K82del NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 1320 Potential. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GAAACCCAGGAGAAGAAGAGATT 0.493 NaN NaN NaN NaN NaN NaN 7 60 --- --- TMC7 79905 broad.mit.edu 37 16 19073098 19073101 + Splice_Site DEL AGGA AGGA - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:19073098_19073101delAGGA uc002dfq.2 + 16 2237 c.2107_splice c.e16-1 p.E703_splice TMC7_uc010vap.1_Splice_Site_p.E593_splice NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a integral to membrane skin(2)|ovary(1) 3 ATTATTTTTTAGGAAAGTCGTGAC 0.377 NaN NaN NaN NaN NaN NaN 8 8 --- --- KIDINS220 57498 broad.mit.edu 37 2 8919881 8919894 + Frame_Shift_Del DEL TCTGAGTGAAGCTG TCTGAGTGAAGCTG - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:8919881_8919894delTCTGAGTGAAGCTG uc002qzc.2 - 18 2462_2475 c.2280_2293delCAGCTTCACTCAGA c.(2278-2295)GACAGCTTCACTCAGAATfs p.D760fs KIDINS220_uc010yiv.1_Frame_Shift_Del_p.D526fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.D718fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.D761fs NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 760_765 KAP NTPase.|Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTTGTCTGATTCTGAGTGAAGCTGTCAATGGTTT 0.458 NaN NaN NaN NaN NaN NaN 13 39 --- --- USP39 10713 broad.mit.edu 37 2 85852670 85852684 + In_Frame_Del DEL GAAGCCCACTTTCAC GAAGCCCACTTTCAC - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:85852670_85852684delGAAGCCCACTTTCAC uc002sqe.2 + 5 615_629 c.579_593delGAAGCCCACTTTCAC c.(577-594)TTGAAGCCCACTTTCACA>TTA p.KPTFT194del USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_In_Frame_Del_p.KPTFT116del|USP39_uc010ysv.1_In_Frame_Del_p.KPTFT91del|USP39_uc010fgn.1_In_Frame_Del_p.KPTFT194del|USP39_uc002sqf.2_In_Frame_Del_p.KPTFT194del|USP39_uc002sqg.2_In_Frame_Del_p.KPTFT194del|USP39_uc010fgo.2_In_Frame_Del_p.KPTFT194del NM_006590 NP_006581 Q53GS9 SNUT2_HUMAN ubiquitin specific protease 39 194_198 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1) 1 AGTATGTGTTGAAGCCCACTTTCACAAAGCAGCAA 0.391 NaN NaN NaN NaN NaN NaN 9 80 --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:98427639delT uc002syh.3 - 18 2149 c.1920delA c.(1918-1920)AAAfs p.K640fs NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 640 integral to membrane ovary(4)|central_nervous_system(2) 6 TCCCCTCTAATTTTTTTGCAG 0.393 NaN NaN NaN NaN NaN NaN 9 442 --- --- SLC22A1 6580 broad.mit.edu 37 6 160560699 160560713 + In_Frame_Del DEL TGCTCTATCAGGGGC TGCTCTATCAGGGGC - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:160560699_160560713delTGCTCTATCAGGGGC uc003qtc.2 + 7 1181_1195 c.1076_1090delTGCTCTATCAGGGGC c.(1075-1092)GTGCTCTATCAGGGGCTC>GTC p.LYQGL360del SLC22A1_uc003qtd.2_In_Frame_Del_p.LYQGL360del NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 360_364 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) ACGGACTCTGTGCTCTATCAGGGGCTCATCCTGCA 0.516 NaN NaN NaN NaN NaN NaN 11 30 --- ---