Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut LUZP1 7798 broad.mit.edu 37 1 23417946 23417946 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:23417946G>C uc001bgk.2 - 4 3193 c.2809C>G c.(2809-2811)CCA>GCA p.P937A LUZP1_uc010odv.1_Missense_Mutation_p.P937A|LUZP1_uc001bgl.2_Missense_Mutation_p.P937A|LUZP1_uc001bgm.1_Missense_Mutation_p.P937A NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 937 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) ATTCGAGTTGGGGGGTCTTCT 0.502 NA 17 169 0 0 0.00499 0 0 HNRNPR 10236 broad.mit.edu 37 1 23667394 23667394 + Silent SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:23667394T>A uc001bgr.3 - 2 267 c.108A>T c.(106-108)GCA>GCT p.A36A HNRNPR_uc001bgp.3_Silent_p.A36A|HNRNPR_uc009vqk.2_Intron|HNRNPR_uc001bgs.3_Intron|HNRNPR_uc010odw.1_Silent_p.A36A|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Intron NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 36 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GTGGGAGGCCTGCCTCTATCA 0.418 NA 66 140 0 0 0.00361 0 0 GPN2 54707 broad.mit.edu 37 1 27212601 27212601 + Nonsense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:27212601C>A uc001bnd.1 - 3 874 c.592G>T c.(592-594)GAG>TAG p.E198* NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 198 GTP binding 0 TCCAGAACCTCTGTGTAGTAG 0.502 NA 14 54 2.48551e-13 3.51553e-13 0.00499 1 0 MRPL37 51253 broad.mit.edu 37 1 54665932 54665932 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:54665932G>C uc001cxa.3 + 1 93 c.16G>C c.(16-18)GGG>CGG p.G6R CYB5RL_uc009vzo.2_5'Flank|CYB5RL_uc001cwx.3_5'Flank|CYB5RL_uc001cwy.3_5'Flank|MRPL37_uc009vzp.2_5'UTR|MRPL37_uc001cxb.1_Missense_Mutation_p.G6R|MRPL37_uc001cxc.3_Intron|MRPL37_uc010oob.1_RNA NM_016491 NP_057575 Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 precursor 6 translation mitochondrial ribosome structural constituent of ribosome 0 ATTGGCGTCCGGGCCCGCAAG 0.716 NA 21 138 0 0 0.00278 0 0 DNAJB4 11080 broad.mit.edu 37 1 78479142 78479142 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:78479142G>C uc001dij.2 + 2 778 c.619G>C c.(619-621)GGG>CGG p.G207R DNAJB4_uc010orn.1_Missense_Mutation_p.G92R NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 207 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding 0 GATTAAAAAAGGGTGGAAAGA 0.363 NA 22 88 0 0 0.001882 0 0 TTF2 8458 broad.mit.edu 37 1 117632685 117632685 + Missense_Mutation SNP G G T rs145353452 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:117632685G>T uc001egy.2 + 14 2371 c.2351G>T c.(2350-2352)CGT>CTT p.R784L NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 784 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AGGTTTCTCCGTTGCTCTCCA 0.408 NA 26 140 2.65835e-16 3.93736e-16 0.007291 1 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:144828704T>G uc009wig.1 + 23 2825 c.2749T>G c.(2749-2751)TAC>GAC p.Y917D NBPF9_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF9_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF9_uc010oxr.1_Missense_Mutation_p.Y944D|NBPF9_uc010oxt.1_Missense_Mutation_p.Y732D|NBPF9_uc001ekg.1_Missense_Mutation_p.Y244D|NBPF9_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Y577D|uc001elr.3_5'Flank NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 917 NBPF 7. cytoplasm 0 CTTCGCCCTTTACGTGGACAA 0.438 NA 8 336 0 0 0.00308 0 0 PIAS3 10401 broad.mit.edu 37 1 145580564 145580564 + Silent SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:145580564A>G uc001eoc.1 + 7 955 c.864A>G c.(862-864)AAA>AAG p.K288K NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 288 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCTACAAAAACTCAGAGCAA 0.512 NA 13 67 0 0 0.003163 0 0 SV2A 9900 broad.mit.edu 37 1 149882197 149882197 + Silent SNP G G A rs148163632 byFrequency TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:149882197G>A uc001etg.2 - 5 1505 c.1014C>T c.(1012-1014)CTC>CTT p.L338L SV2A_uc001eth.2_Silent_p.L338L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 338 Helical; (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGGCGCAGACGAGGACGAAGA 0.582 NA 5 45 0 0 0.000602 0 0 CGN 57530 broad.mit.edu 37 1 151508772 151508772 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:151508772C>T uc009wmw.2 + 19 3401 c.3257C>T c.(3256-3258)TCC>TTC p.S1086F CGN_uc010pde.1_Missense_Mutation_p.S80F NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 1080 Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AAAGAACTATCCATCCAGATT 0.478 NA 26 83 0 0 0.00632 0 0 HRNR 388697 broad.mit.edu 37 1 152188193 152188193 + Nonsense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:152188193G>C uc001ezt.1 - 3 5988 c.5912C>G c.(5911-5913)TCA>TGA p.S1971* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1971 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCACCCTGAGCCAGACCC 0.607 NA 13 722 0 0 0.001855 0 0 FLG 2312 broad.mit.edu 37 1 152280088 152280088 + Missense_Mutation SNP T T A rs148955202 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:152280088T>A uc001ezu.1 - 3 7310 c.7274A>T c.(7273-7275)GAG>GTG p.E2425V NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2425 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGCGGACTCAGACTGTTC 0.597 NA Ichthyosis 211 277 0 0 0.00361 0 0 UBAP2L 9898 broad.mit.edu 37 1 154241426 154241426 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:154241426G>T uc001fep.3 + 26 3331 c.3164G>T c.(3163-3165)GGC>GTC p.G1055V UBAP2L_uc010pel.1_Missense_Mutation_p.G1064V|UBAP2L_uc001feq.2_Missense_Mutation_p.G251V|UBAP2L_uc001fer.2_Missense_Mutation_p.G251V NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 1055 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) CAGCAGGATGGCCAGGTAATA 0.353 NA 23 142 9.57634e-11 1.30738e-10 0.00333 1 0 BCAN 63827 broad.mit.edu 37 1 156617830 156617830 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:156617830G>T uc001fpp.2 + 5 1033 c.697G>T c.(697-699)GGG>TGG p.G233W BCAN_uc001fpo.2_Missense_Mutation_p.G233W NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 233 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGCTTCCCCGGGGTCCGGAA 0.532 NA 23 166 5.35356e-11 7.37288e-11 0.00278 1 0 NTRK1 4914 broad.mit.edu 37 1 156837895 156837896 + Splice_Site DNP GG GG TT TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:156837895_156837896GG>TT uc001fqh.1 + 5 485 c.429_splice c.e5-1 p.L143_splice NTRK1_uc001fqf.1_Splice_Site_p.L113_splice|NTRK1_uc009wsi.1_Splice_Site|NTRK1_uc001fqi.1_Splice_Site_p.L143_splice|NTRK1_uc009wsk.1_Splice_Site_p.L143_splice NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) ATGCCCCCCAGGGTCCTGTCGG 0.624 NA T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 56 88 0 0 0.004672 0 0 ITLN1 55600 broad.mit.edu 37 1 160851995 160851995 + Splice_Site SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:160851995C>A uc001fxc.2 - 4 274 c.158_splice c.e4-1 p.D53_splice NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACAGGCCATCTGTAGAGAGA 0.557 NA 14 81 2.35188e-11 3.28218e-11 0.006122 1 0 F5 2153 broad.mit.edu 37 1 169511405 169511405 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:169511405G>T uc001ggg.1 - 13 3068 c.2923C>A c.(2923-2925)CCC>ACC p.P975T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 975 B. 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) GCATTCTGGGGGCTGATCAGC 0.468 NA 24 244 4.26978e-12 5.98531e-12 0.00333 1 0 TNR 7143 broad.mit.edu 37 1 175304875 175304875 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:175304875G>A uc001gkp.1 - 18 3684 c.3603C>T c.(3601-3603)TTC>TTT p.F1201F TNR_uc009wwu.1_Silent_p.F1201F NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1201 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCACGTTCCCGAAGCCAACAC 0.428 NA 52 176 0 0 0.00361 0 0 ASTN1 460 broad.mit.edu 37 1 177030287 177030287 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:177030287C>T uc001glc.2 - 2 610 c.398G>A c.(397-399)GGA>GAA p.G133E ASTN1_uc001glb.1_Missense_Mutation_p.G133E|ASTN1_uc001gld.1_Missense_Mutation_p.G133E|ASTN1_uc009wwx.1_Missense_Mutation_p.G133E NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 133 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GGGGTCTTGTCCAGGAAGGCT 0.532 NA 37 311 0 0 0.004289 0 0 ZNF648 127665 broad.mit.edu 37 1 182026435 182026435 + Silent SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:182026435C>G uc001goz.2 - 2 919 c.711G>C c.(709-711)GCG>GCC p.A237A NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CGCGCCGGCCCGCCTGGTTCT 0.701 NSCLC(71;908 1374 5429 20458 35642) NA 4 16 0 0 0.000602 0 0 LAMC1 3915 broad.mit.edu 37 1 183091040 183091040 + Missense_Mutation SNP G G T rs147401305 byFrequency TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:183091040G>T uc001gpy.3 + 12 2430 c.2173G>T c.(2173-2175)GCC>TCC p.A725S NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 725 Laminin EGF-like 6. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTGCTTTGCGCCTGCAATGG 0.478 NA 27 38 2.12542e-12 2.99274e-12 0.00632 1 0 F13B 2165 broad.mit.edu 37 1 197019870 197019870 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:197019870G>A uc001gtt.1 - 10 1739 c.1695C>T c.(1693-1695)GCC>GCT p.A565A NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 565 Sushi 9. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CTAAACAATAGGCCTCCCTAG 0.348 NA 14 70 0 0 0.004007 0 0 CACNA1S 779 broad.mit.edu 37 1 201030557 201030557 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:201030557C>T uc001gvv.2 - 25 3320 c.3093G>A c.(3091-3093)GTG>GTA p.V1031V NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1031 III.|Extracellular (Potential).|Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGATGGGACCCACGTCCTCCG 0.532 NA 4 93 0 0 0.009096 0 0 CACNA1S 779 broad.mit.edu 37 1 201035434 201035434 + Missense_Mutation SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:201035434T>A uc001gvv.2 - 21 2895 c.2668A>T c.(2668-2670)ATC>TTC p.I890F NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 890 III.|Extracellular (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACCACGGAGATGGCACTGGAC 0.657 NA 22 75 0 0 0.003954 0 0 ELF3 1999 broad.mit.edu 37 1 201980419 201980419 + Missense_Mutation SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:201980419A>G uc001gxg.3 + 1 3347 c.155A>G c.(154-156)GAG>GGG p.E52G ELF3_uc001gxi.3_Missense_Mutation_p.E52G|ELF3_uc001gxh.3_Missense_Mutation_p.E52G NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 52 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 ATGTCATTGGAGGGTACAGGT 0.607 NA 3 118 0 0 0.004672 0 0 SLC26A9 115019 broad.mit.edu 37 1 205904837 205904837 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:205904837G>A uc001hdq.2 - 2 226 c.112C>T c.(112-114)CGC>TGC p.R38C SLC26A9_uc001hdp.2_Missense_Mutation_p.R38C NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 38 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AAGGCATTGCGAAGTTTCTCT 0.552 NA 18 208 0 0 0.008871 0 0 CENPF 1063 broad.mit.edu 37 1 214820057 214820057 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:214820057G>A uc001hkm.2 + 13 7318 c.7144G>A c.(7144-7146)GGT>AGT p.G2382S NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2478 2-2.|Potential.|2 X 177 AA tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGTCTGAGAGGTCTGGAATT 0.373 Colon(80;575 1284 11000 14801 43496) NA 14 67 0 0 0.00245 0 0 CNIH3 149111 broad.mit.edu 37 1 224927039 224927039 + Missense_Mutation SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:224927039A>T uc001hos.1 + 6 1162 c.464A>T c.(463-465)TAC>TTC p.Y155F NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 155 Helical; (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) AGCATGATCTACACTTTAGTG 0.468 NA 16 91 0 0 0.004007 0 0 NUP133 55746 broad.mit.edu 37 1 229636555 229636555 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:229636555T>C uc001htn.2 - 4 553 c.461A>G c.(460-462)GAC>GGC p.D154G NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 154 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AGCCACTAAGTCGGCACTCCA 0.398 NA 8 37 0 0 0.010729 0 0 EXO1 9156 broad.mit.edu 37 1 242042436 242042436 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:242042436C>A uc001hzh.2 + 13 2440 c.1900C>A c.(1900-1902)CGA>AGA p.R634R EXO1_uc001hzi.2_Silent_p.R634R|EXO1_uc001hzj.2_Silent_p.R634R|EXO1_uc009xgq.2_Silent_p.R633R NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 634 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GCAGCAGTTCCGAAGAAAGAG 0.483 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 4 101 0.00909568 0.00984843 0.009096 1 0 OR6F1 343169 broad.mit.edu 37 1 247876019 247876019 + Silent SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:247876019G>T uc001idj.1 - 1 39 c.39C>A c.(37-39)CTC>CTA p.L13L NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGCCCAGTAAGAGAAAGTCCT 0.463 NA 41 184 2.19962e-31 3.7537e-31 0.00874 1 0 OR2M3 127062 broad.mit.edu 37 1 248366604 248366604 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:248366604C>A uc010pzg.1 + 1 235 c.235C>A c.(235-237)CCC>ACC p.P79T NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 79 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CACCACCGTACCCAAGATGGC 0.527 NA 200 413 3.74347e-84 6.71686e-84 0.00361 1 0 OR2T33 391195 broad.mit.edu 37 1 248436623 248436623 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:248436623G>T uc010pzi.1 - 1 494 c.494C>A c.(493-495)CCA>CAA p.P165Q NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACCACAATATGGGAAGCTCAG 0.562 NA 10 87 1.49906e-05 1.76957e-05 0.00245 1 0 OR2T12 127064 broad.mit.edu 37 1 248458171 248458171 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:248458171G>T uc010pzj.1 - 1 710 c.710C>A c.(709-711)GCC>GAC p.A237D NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 237 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGAGCAGGTGGCAAAGGCCTT 0.522 NA 29 74 1.56442e-22 2.5321e-22 0.012213 1 0 OR2T4 127074 broad.mit.edu 37 1 248525194 248525194 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:248525194G>A uc001ieh.1 + 1 312 c.312G>A c.(310-312)GCG>GCA p.A104A NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 104 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGACATGGCGTACATTTCTG 0.498 NA 162 397 0 0 0.00361 0 0 OR14I1 401994 broad.mit.edu 37 1 248844837 248844837 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:248844837C>A uc001ieu.1 - 1 769 c.769G>T c.(769-771)GCC>TCC p.A257S NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTCCTAAGGCAGCAAAGAGC 0.478 NA 42 129 1.23713e-20 1.93263e-20 0.00361 1 0 TUBB8 347688 broad.mit.edu 37 10 93315 93315 + Silent SNP A A G rs9794100 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:93315A>G uc001ifi.2 - 4 1017 c.1017T>C c.(1015-1017)AGT>AGC p.S339S TUBB8_uc009xhe.2_Silent_p.S302S|TUBB8_uc010pzs.1_Silent_p.S267S NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 339 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CAGCAAAGTAACTGCTGTTCT 0.517 Pancreas(192;2041 3010 9013 18103) NA 4 121 0 0 0.009096 0 0 KIN 22944 broad.mit.edu 37 10 7801874 7801874 + Silent SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:7801874T>A uc001ijt.2 - 12 1146 c.1098A>T c.(1096-1098)TCA>TCT p.S366S KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Intron|KIN_uc010qba.1_Silent_p.S260S NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 366 C-terminal subdomain B. DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CGATAGTAGCTGAAAAAGTCT 0.303 NA 6 54 0 0 0.001984 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 NA 3 82 0 0 0.009096 0 0 PCDH15 65217 broad.mit.edu 37 10 55826582 55826582 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:55826582G>A uc001jju.1 - 18 2550 c.2155C>T c.(2155-2157)CCT>TCT p.P719S PCDH15_uc010qhq.1_Missense_Mutation_p.P724S|PCDH15_uc010qhr.1_Missense_Mutation_p.P719S|PCDH15_uc010qhs.1_Missense_Mutation_p.P731S|PCDH15_uc010qht.1_Missense_Mutation_p.P726S|PCDH15_uc010qhu.1_Missense_Mutation_p.P719S|PCDH15_uc001jjv.1_Missense_Mutation_p.P697S|PCDH15_uc010qhv.1_Missense_Mutation_p.P719S|PCDH15_uc010qhw.1_Missense_Mutation_p.P682S|PCDH15_uc010qhx.1_Missense_Mutation_p.P648S|PCDH15_uc010qhy.1_Missense_Mutation_p.P724S|PCDH15_uc010qhz.1_Missense_Mutation_p.P719S|PCDH15_uc010qia.1_Missense_Mutation_p.P697S|PCDH15_uc010qib.1_Missense_Mutation_p.P697S|PCDH15_uc001jjw.2_Missense_Mutation_p.P719S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 719 Extracellular (Potential).|Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GGCAGATAAGGATCAAACACT 0.373 NA HNSCC(58;0.16) 33 100 0 0 0.002836 0 0 MYPN 84665 broad.mit.edu 37 10 69933835 69933835 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:69933835G>C uc001jnm.3 + 12 2171 c.1986G>C c.(1984-1986)CAG>CAC p.Q662H MYPN_uc001jnn.3_Missense_Mutation_p.Q387H|MYPN_uc001jno.3_Missense_Mutation_p.Q662H|MYPN_uc009xpt.2_Missense_Mutation_p.Q662H|MYPN_uc010qit.1_Missense_Mutation_p.Q368H|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 662 Interaction with NEB. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 ATTCCACTCAGTTACAACAGC 0.403 NA 50 148 0 0 0.00361 0 0 KIAA1279 26128 broad.mit.edu 37 10 70776115 70776115 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:70776115G>T uc001joy.2 + 7 1905 c.1809G>T c.(1807-1809)ATG>ATT p.M603I NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 603 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 GTAAAGAGATGGTTAGTCTTC 0.373 NA 31 72 1.08312e-15 1.58925e-15 0.009535 1 0 LGI1 9211 broad.mit.edu 37 10 95517964 95517964 + Silent SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:95517964T>C uc001kjc.3 + 1 399 c.63T>C c.(61-63)TAT>TAC p.Y21Y LGI1_uc010qnv.1_Silent_p.Y21Y|LGI1_uc001kjd.3_Silent_p.Y21Y|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 21 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) GAATTGCTTATTTCCTATGTC 0.443 NA 15 77 0 0 0.00499 0 0 C10orf76 79591 broad.mit.edu 37 10 103761774 103761774 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:103761774C>A uc009xwy.1 - 15 1206 c.1104G>T c.(1102-1104)CTG>CTT p.L368L NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 368 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) AAAAGGTTATCAGTAGATTAC 0.423 NA 42 175 1.23713e-20 1.93263e-20 0.00361 1 0 SORCS3 22986 broad.mit.edu 37 10 106907472 106907472 + Missense_Mutation SNP G G T rs147155519 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:106907472G>T uc001kyi.1 + 9 1627 c.1400G>T c.(1399-1401)CGT>CTT p.R467L NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 467 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCAGACACGCGTGGGATTTAC 0.453 NSCLC(116;1497 1690 7108 13108 14106) NA 26 74 4.87955e-14 6.96445e-14 0.005443 1 0 HABP2 3026 broad.mit.edu 37 10 115345649 115345649 + Missense_Mutation SNP T T A rs148362361 byFrequency TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:115345649T>A uc001lai.3 + 12 1573 c.1470T>A c.(1468-1470)AGT>AGA p.S490R NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 490 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TTGATGACAGTATGATCTGTG 0.512 NA 27 56 0 0 0.005443 0 0 NRAP 4892 broad.mit.edu 37 10 115381717 115381717 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:115381717C>A uc001laj.2 - 24 2844 c.2680G>T c.(2680-2682)GGC>TGC p.G894C NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.G859C|NRAP_uc001lal.3_Missense_Mutation_p.G894C NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 894 Nebulin 22. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTCTTGTAGCCTACGTCTGTG 0.517 NA 41 99 5.2432e-18 7.99207e-18 0.00361 1 0 PPP2R2D 55844 broad.mit.edu 37 10 133758920 133758920 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:133758920G>A uc001lks.2 + 5 921 c.678G>A c.(676-678)CTG>CTA p.L226L PPP2R2D_uc001lkr.2_Silent_p.L32L|PPP2R2D_uc001lkt.2_Silent_p.L32L|PPP2R2D_uc009yay.2_Silent_p.L94L NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 259 WD 4. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) CCATCCGCCTGTGTGACATGC 0.453 NA 14 61 0 0 0.006122 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135102477 135102477 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr10:135102477G>A uc001lmg.1 - 10 1765 c.1408C>T c.(1408-1410)CCG>TCG p.P470S TUBGCP2_uc001lmf.1_Missense_Mutation_p.P63S|TUBGCP2_uc010qvc.1_Missense_Mutation_p.P498S|TUBGCP2_uc009ybk.1_Missense_Mutation_p.P470S|TUBGCP2_uc010qvd.1_Missense_Mutation_p.P340S|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 470 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) TTAGCCACCGGGCAGGTGACG 0.478 NA 32 110 0 0 0.005524 0 0 HBD 3045 broad.mit.edu 37 11 5255339 5255339 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:5255339T>C uc001maf.1 - 2 392 c.197A>G c.(196-198)AAG>AGG p.K66R NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 66 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGCACCTTCTTGCCATGAGC 0.542 NA 37 71 0 0 0.00361 0 0 CCKBR 887 broad.mit.edu 37 11 6291976 6291976 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:6291976G>A uc001mcp.2 + 4 947 c.754G>A c.(754-756)GAC>AAC p.D252N CCKBR_uc001mcq.2_Missense_Mutation_p.D180N|CCKBR_uc001mcr.2_Missense_Mutation_p.D252N|CCKBR_uc001mcs.2_Missense_Mutation_p.D252N|CCKBR_uc001mct.1_5'Flank NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 252 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GCTTCGCTTTGACGGCGACAG 0.607 NA 25 57 0 0 0.007291 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195006 18195006 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:18195006T>C uc001mnv.1 + 1 623 c.203T>C c.(202-204)CTG>CCG p.L68P NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 68 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 ATCCTCAACCTGGCCGCAGCA 0.527 NA 29 59 0 0 0.010818 0 0 ANO3 63982 broad.mit.edu 37 11 26677674 26677674 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:26677674G>T uc001mqt.3 + 25 2724 c.2579G>T c.(2578-2580)TGC>TTC p.C860F ANO3_uc010rdr.1_Missense_Mutation_p.C844F|ANO3_uc010rds.1_Missense_Mutation_p.C699F|ANO3_uc010rdt.1_Missense_Mutation_p.C714F NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 860 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCTCCCAGTTGCTTGAAGGGA 0.328 NA 29 78 8.4185e-14 1.19611e-13 0.012213 1 0 SLC5A12 159963 broad.mit.edu 37 11 26725452 26725452 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:26725452C>A uc001mra.2 - 5 881 c.568G>T c.(568-570)GTT>TTT p.V190F SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.V190F NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 190 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 ATCATGACAACCATCTGAAAT 0.423 NA 26 236 5.49717e-05 6.36941e-05 0.00333 1 0 OR4A15 81328 broad.mit.edu 37 11 55135855 55135855 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:55135855C>T uc010rif.1 + 1 496 c.496C>T c.(496-498)CGT>TGT p.R166C NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 166 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CACCATGAATCGTCGAGTCTG 0.438 NA 105 329 0 0 0.00361 0 0 OR5W2 390148 broad.mit.edu 37 11 55681403 55681403 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:55681403C>T uc010rir.1 - 1 656 c.656G>A c.(655-657)TGT>TAT p.C219Y NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GATGATATAACAATAAGAAAT 0.408 Melanoma(48;171 1190 15239 43886 49348) NA 26 81 0 0 0.007291 0 0 OR5W2 390148 broad.mit.edu 37 11 55681593 55681593 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:55681593C>G uc010rir.1 - 1 466 c.466G>C c.(466-468)GCT>CCT p.A156P NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGTATCAAAGCATCTGCTATT 0.448 Melanoma(48;171 1190 15239 43886 49348) NA 22 123 0 0 0.00333 0 0 MS4A12 54860 broad.mit.edu 37 11 60274525 60274525 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:60274525C>A uc001npr.2 + 7 789 c.732C>A c.(730-732)AGC>AGA p.S244R NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 244 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGTATGAAAGCAACCCTGTGA 0.408 NA 20 113 9.86323e-18 1.48897e-17 0.003954 1 0 MACROD1 28992 broad.mit.edu 37 11 63918756 63918756 + Missense_Mutation SNP G G A rs143192829 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:63918756G>A uc001nyh.2 - 3 591 c.472C>T c.(472-474)CGC>TGC p.R158C NM_014067 NP_054786 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 158 Macro. 0 ATGTCGCTGCGGAGCAGGGAG 0.602 NA 14 75 0 0 0.00245 0 0 RNF121 55298 broad.mit.edu 37 11 71693869 71693869 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:71693869G>T uc001ora.2 + 4 646 c.306G>T c.(304-306)TGG>TGT p.W102C RNF121_uc001ord.2_Missense_Mutation_p.W21C|RNF121_uc001orb.2_Missense_Mutation_p.W70C|RNF121_uc009yst.2_Missense_Mutation_p.W70C NM_018320 NP_060790 Q9H920 RN121_HUMAN ring finger protein 121 102 Helical; (Potential). integral to membrane zinc ion binding 0 TGCACTGGTGGAGGTTCCTAG 0.502 NA 45 152 8.0703e-11 1.10658e-10 0.00361 1 0 ELMOD1 55531 broad.mit.edu 37 11 107501260 107501260 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:107501260G>T uc010rvs.1 + 3 539 c.135G>T c.(133-135)AAG>AAT p.K45N ELMOD1_uc001pjm.2_Missense_Mutation_p.K45N|ELMOD1_uc010rvt.1_Missense_Mutation_p.K39N NM_018712 NP_061182 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 isoform 1 45 phagocytosis cytoskeleton GTPase activator activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) ATAATACCAAGCCGGGAGCTT 0.408 NA 5 19 4.096e-09 5.29277e-09 0.001168 1 0 ATM 472 broad.mit.edu 37 11 108160401 108160401 + Nonsense_Mutation SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:108160401A>T uc001pkb.1 + 29 4694 c.4309A>T c.(4309-4311)AGA>TGA p.R1437* ATM_uc009yxr.1_Nonsense_Mutation_p.R1437*|ATM_uc001pkd.3_Nonsense_Mutation_p.R89*|ATM_uc001pke.1_Nonsense_Mutation_p.R89*|ATM_uc010rvw.1_Nonsense_Mutation_p.R89*|ATM_uc001pkf.2_Nonsense_Mutation_p.R89* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1437 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TAAGAAGCACAGAATTCTTAA 0.318 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 7 30 0 0 0.00308 0 0 ABCG4 64137 broad.mit.edu 37 11 119024853 119024853 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:119024853G>A uc001pvs.2 + 3 692 c.356G>A c.(355-357)AGG>AAG p.R119K ABCG4_uc009zar.2_Missense_Mutation_p.R119K|ABCG4_uc001pvt.1_RNA NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 119 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCAGGATACAGGTAAGGAAGA 0.532 NA 23 91 0 0 0.00632 0 0 BLID 414899 broad.mit.edu 37 11 121986476 121986476 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:121986476C>G uc001pyf.2 - 1 448 c.155G>C c.(154-156)GGT>GCT p.G52A LOC399959_uc009zba.2_Intron NM_001001786 NP_001001786 Q8IZY5 BLID_HUMAN BRCC2 protein 52 apoptosis mitochondrion 0 Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101) TTTGTTGGAACCCAAGAGCGC 0.498 NA OREG0021435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 151 0 0 0.00874 0 0 PRDM10 56980 broad.mit.edu 37 11 129817146 129817146 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr11:129817146C>T uc001qfm.2 - 5 646 c.414G>A c.(412-414)GAG>GAA p.E138E PRDM10_uc001qfj.2_Silent_p.E52E|PRDM10_uc001qfk.2_Silent_p.E52E|PRDM10_uc001qfl.2_Silent_p.E52E|PRDM10_uc010sbx.1_Silent_p.E52E|PRDM10_uc001qfn.2_Silent_p.E138E|PRDM10_uc009zct.1_Silent_p.E170E NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CGTCCTCATCCTCATCCTCTT 0.597 NA 13 99 0 0 0.003163 0 0 KCNA5 3741 broad.mit.edu 37 12 5155110 5155110 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:5155110C>A uc001qni.2 + 1 2026 c.1797C>A c.(1795-1797)TCC>TCA p.S599S NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 599 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TGCGGAGGTCCCTTTATGCCC 0.582 NA 20 42 3.62473e-10 4.88483e-10 0.001882 1 0 ATF7IP 55729 broad.mit.edu 37 12 14634051 14634051 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:14634051C>T uc001rbw.2 + 13 3370 c.3212C>T c.(3211-3213)CCA>CTA p.P1071L ATF7IP_uc001rbv.1_Missense_Mutation_p.P1070L|ATF7IP_uc001rbx.2_Missense_Mutation_p.P1070L|ATF7IP_uc001rby.3_Missense_Mutation_p.P1071L|ATF7IP_uc001rca.2_Missense_Mutation_p.P1071L NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1071 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 CCTGCACCACCAGCTCAGGCT 0.493 NA 31 109 0 0 0.008361 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 20 0.00116845 0.00129644 0.001168 1 0 ANO6 196527 broad.mit.edu 37 12 45823076 45823076 + Silent SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:45823076A>G uc001roo.2 + 20 3050 c.2715A>G c.(2713-2715)TTA>TTG p.L905L ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Silent_p.L926L|ANO6_uc010slg.1_Silent_p.L887L NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 905 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 ATAACAATTTACGGCCAAAAT 0.353 NA 8 39 0 0 0.010729 0 0 KRT84 3890 broad.mit.edu 37 12 52778968 52778968 + Silent SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:52778968G>T uc001sah.1 - 1 450 c.402C>A c.(400-402)GCC>GCA p.A134A NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 134 Head. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGATAGATGGGGCTGCTGGGA 0.567 NA 88 223 6.09681e-45 1.08773e-44 0.00361 1 0 KRT73 319101 broad.mit.edu 37 12 53012212 53012212 + Nonsense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:53012212G>A uc001sas.2 - 1 132 c.97C>T c.(97-99)CGA>TGA p.R33* NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 33 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CCCCCTGCTCGGTAGGAGGAT 0.637 NA 31 87 0 0 0.004289 0 0 EIF4B 1975 broad.mit.edu 37 12 53427638 53427638 + Missense_Mutation SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:53427638A>G uc001sbh.3 + 9 1234 c.1028A>G c.(1027-1029)AAG>AGG p.K343R EIF4B_uc010snu.1_Missense_Mutation_p.K343R|EIF4B_uc010snv.1_Missense_Mutation_p.K304R|EIF4B_uc001sbi.2_Missense_Mutation_p.K95R NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 343 K -> E (in Ref. 1; CAA39265). insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 AGTACTCCTAAGGAAGATGAT 0.453 NA 19 34 0 0 0.001882 0 0 NFE2 4778 broad.mit.edu 37 12 54686186 54686186 + Missense_Mutation SNP C C T rs141251053 byFrequency TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:54686186C>T uc009znk.2 - 2 1604 c.1094G>A c.(1093-1095)CGG>CAG p.R365Q NFE2_uc001sfq.2_Missense_Mutation_p.R365Q|NFE2_uc001sfr.3_Missense_Mutation_p.R365Q|NFE2_uc009znl.2_Missense_Mutation_p.R365Q NM_006163 NP_006154 Q16621 NFE2_HUMAN nuclear factor, erythroid derived 2 isoform 1 365 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding 0 CTTGGTCCCCCGGGGCACAAG 0.562 NA 7 60 0 0 0.004482 0 0 CD63 967 broad.mit.edu 37 12 56120552 56120552 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:56120552G>A uc001shm.2 - 4 454 c.358C>T c.(358-360)CGG>TGG p.R120W CD63_uc009znz.2_Missense_Mutation_p.R97W|CD63_uc001shn.2_Missense_Mutation_p.R120W|CD63_uc001sho.2_Missense_Mutation_p.R120W|CD63_uc001shp.2_Missense_Mutation_p.R120W NM_001780 NP_001771 P08962 CD63_HUMAN CD63 antigen isoform A 120 Extracellular (Potential). platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane 0 ATCTGCTGCCGGAAGTTGTTA 0.557 Pancreas(123;1459 1747 6717 18841 37380) NA 21 191 0 0 0.002299 0 0 GLI1 2735 broad.mit.edu 37 12 57864593 57864593 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:57864593C>T uc001snx.2 + 12 2148 c.2070C>T c.(2068-2070)CCC>CCT p.P690P GLI1_uc009zpq.2_Silent_p.P562P NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 690 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CACAGCCCCCCAGCATCACTG 0.567 Pancreas(157;841 1936 10503 41495 50368) NA 13 64 0 0 0.00245 0 0 XPOT 11260 broad.mit.edu 37 12 64814179 64814179 + Nonsense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:64814179G>T uc001ssb.2 + 8 1147 c.721G>T c.(721-723)GAA>TAA p.E241* XPOT_uc009zqm.1_Nonsense_Mutation_p.E151* NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 241 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) AGTTCTACGGGAAGAAGCATG 0.333 NA 26 90 4.22769e-11 5.87388e-11 0.00632 1 0 OSBPL8 114882 broad.mit.edu 37 12 76779954 76779954 + Silent SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:76779954A>G uc001sye.1 - 14 2007 c.1527T>C c.(1525-1527)GCT>GCC p.A509A OSBPL8_uc001syf.1_Silent_p.A467A|OSBPL8_uc001syg.1_Silent_p.A467A|OSBPL8_uc001syh.1_Silent_p.A484A NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 509 lipid transport lipid binding ovary(1) 1 ATACCTGTTCAGCAATATAAA 0.313 NA 9 32 0 0 0.006214 0 0 E2F7 144455 broad.mit.edu 37 12 77421759 77421759 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:77421759G>T uc001sym.3 - 11 2280 c.2044C>A c.(2044-2046)CCT>ACT p.P682T E2F7_uc009zse.2_Missense_Mutation_p.P169T NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 682 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 TTTCTTGAAGGATTTCCCCAC 0.423 NA 43 158 5.73435e-26 9.52691e-26 0.00361 1 0 NAV3 89795 broad.mit.edu 37 12 78444594 78444594 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:78444594G>T uc001syp.2 + 11 2356 c.2183G>T c.(2182-2184)AGG>ATG p.R728M NAV3_uc001syo.2_Missense_Mutation_p.R728M|NAV3_uc010sub.1_Missense_Mutation_p.R228M NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 728 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTTAATGGAAGGACCATACCC 0.517 NA HNSCC(70;0.22) 31 115 9.8876e-21 1.56015e-20 0.004878 1 0 STAB2 55576 broad.mit.edu 37 12 104129313 104129313 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:104129313G>A uc001tjw.2 + 52 5691 c.5505G>A c.(5503-5505)CTG>CTA p.L1835L STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1835 Extracellular (Potential).|FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GGAAGACCCTGCAAGGTTCAG 0.542 NA 8 31 0 0 0.004482 0 0 TBX5 6910 broad.mit.edu 37 12 114841688 114841688 + Nonsense_Mutation SNP C C A rs145365553 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:114841688C>A uc001tvo.2 - 2 511 c.16G>T c.(16-18)GAG>TAG p.E6* TBX5_uc001tvp.2_Nonsense_Mutation_p.E6*|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Nonsense_Mutation_p.E6* NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 6 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCAAAGCCCTCGTCTGCGTCG 0.677 NSCLC(152;1358 1980 4050 23898 40356) NA 8 27 3.86212e-05 4.4915e-05 0.008291 1 0 MED13L 23389 broad.mit.edu 37 12 116421007 116421007 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:116421007C>A uc001tvw.2 - 21 4925 c.4870G>T c.(4870-4872)GAT>TAT p.D1624Y NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1624 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGCGTTCTATCCGCAGAAATG 0.527 NA 31 65 3.33393e-15 4.80209e-15 0.004878 1 0 SBNO1 55206 broad.mit.edu 37 12 123782543 123782543 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:123782543C>A uc010tap.1 - 30 4021 c.4021G>T c.(4021-4023)GAT>TAT p.D1341Y SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.D1340Y|SBNO1_uc010taq.1_Missense_Mutation_p.D292Y NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1341 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CGTTGCCCATCTTCCGTTCTT 0.428 NA 50 167 6.20943e-19 9.55766e-19 0.00361 1 0 MMP17 4326 broad.mit.edu 37 12 132325241 132325241 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr12:132325241C>A uc001ujc.1 + 4 645 c.546C>A c.(544-546)GCC>GCA p.A182A MMP17_uc001ujd.1_Silent_p.A98A NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 182 A -> T (in Ref. 1; BAA82707 and 2; CAA61753). proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CGGGCAGCGCCGCCGACATCC 0.672 NA 20 82 7.88262e-20 1.21928e-19 0.00333 1 0 LNX2 222484 broad.mit.edu 37 13 28143301 28143301 + Silent SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr13:28143301A>G uc001url.3 - 3 829 c.520T>C c.(520-522)TTA>CTA p.L174L LNX2_uc001urm.1_Silent_p.L174L NM_153371 NP_699202 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 174 zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 6 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) TCTGGAGATAAGGTACCTGCA 0.517 NA 100 203 0 0 0.00361 0 0 OR11H6 122748 broad.mit.edu 37 14 20692480 20692480 + Silent SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:20692480A>T uc010tlc.1 + 1 612 c.612A>T c.(610-612)GCA>GCT p.A204A NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 204 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CATTGTTTGCACTGGCCTGCA 0.493 NA 18 43 0 0 0.002299 0 0 TEP1 7011 broad.mit.edu 37 14 20857777 20857777 + Silent SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:20857777T>A uc001vxe.2 - 16 2497 c.2457A>T c.(2455-2457)GTA>GTT p.V819V TEP1_uc010ahk.2_Silent_p.V169V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.V711V NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 819 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ACAGGTATTGTACCCTTCTTA 0.473 NA 36 84 0 0 0.006999 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623954 21623954 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:21623954C>T uc010tlp.1 - 1 231 c.231G>A c.(229-231)CTG>CTA p.L77L NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) CCACGAAGAGCAGCCTCTGGA 0.582 NA 13 46 0 0 0.001855 0 0 CHD8 57680 broad.mit.edu 37 14 21878145 21878145 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:21878145G>A uc001was.1 - 11 1486 c.1392C>T c.(1390-1392)CCC>CCT p.P464P CHD8_uc001war.1_Silent_p.P360P|CHD8_uc001wav.1_5'UTR NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 743 Chromo 2. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGTAAATAACGGGCTAGGAGA 0.383 NA 15 34 0 0 0.003163 0 0 CHD8 57680 broad.mit.edu 37 14 21896230 21896230 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:21896230C>T uc001was.1 - 4 656 c.562G>A c.(562-564)GAG>AAG p.E188K CHD8_uc001war.1_Missense_Mutation_p.E84K NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 467 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCAATGGCCTCTGCTACAATC 0.547 NA 32 217 0 0 0.012213 0 0 MYH6 4624 broad.mit.edu 37 14 23855623 23855623 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:23855623C>A uc001wjv.2 - 33 4927 c.4860G>T c.(4858-4860)ATG>ATT p.M1620I NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1620 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTCTCCTTCCATCTTCTTCT 0.607 NA 43 144 3.05275e-18 4.67591e-18 0.003214 1 0 PRKD1 5587 broad.mit.edu 37 14 30133002 30133002 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:30133002C>A uc001wqh.2 - 4 780 c.599G>T c.(598-600)AGG>ATG p.R200M NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 200 Poly-Arg. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CCTTCTCCGCCTCACACCGCT 0.458 NA 83 330 3.47446e-26 5.83413e-26 0.00361 1 0 NIN 51199 broad.mit.edu 37 14 51228584 51228584 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:51228584G>C uc001wym.2 - 16 2011 c.1820C>G c.(1819-1821)GCA>GGA p.A607G NIN_uc001wyi.2_Missense_Mutation_p.A607G|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.A607G|NIN_uc010tqp.1_Missense_Mutation_p.A613G|NIN_uc001wyo.2_Missense_Mutation_p.A607G NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 607 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GACCAGCTCTGCCTCAATGCT 0.448 NA T PDGFRB MPD 4 325 0 0 0.009096 0 0 FAM71D 161142 broad.mit.edu 37 14 67675040 67675040 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:67675040G>C uc001xja.1 + 6 1288 c.1034G>C c.(1033-1035)AGA>ACA p.R345T FAM71D_uc010aqn.1_RNA NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN hypothetical protein LOC161142 345 ovary(1) 1 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) GAAGGTAAAAGATATTTTCAA 0.378 NA 6 88 0 0 0.004482 0 0 ACTN1 87 broad.mit.edu 37 14 69347566 69347566 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:69347566C>A uc001xkl.2 - 17 2404 c.2094G>T c.(2092-2094)GCG>GCT p.A698A ACTN1_uc001xkk.2_Silent_p.A294A|ACTN1_uc010ttb.1_Silent_p.A633A|ACTN1_uc001xkm.2_Silent_p.A698A|ACTN1_uc001xkn.2_Silent_p.A698A|ACTN1_uc010ttc.1_Silent_p.A283A NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 698 Spectrin 4.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CGAAGATGAGCGCCTCCTGGA 0.582 NA 58 107 1.08141e-31 1.87603e-31 0.00361 1 0 ESRRB 2103 broad.mit.edu 37 14 76948374 76948374 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:76948374G>T uc001xsq.1 + 4 597 c.530G>T c.(529-531)CGA>CTA p.R177L ESRRB_uc001xsr.2_Missense_Mutation_p.R177L|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 177 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) CGCCTTGATCGAGTGCGTGGA 0.507 NA 15 59 3.41278e-10 4.61902e-10 0.00499 1 0 C14orf49 161176 broad.mit.edu 37 14 95910832 95910832 + Nonsense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:95910832G>C uc001yei.3 - 9 1781 c.1766C>G c.(1765-1767)TCA>TGA p.S589* C14orf49_uc010avi.2_Nonsense_Mutation_p.S589*|C14orf49_uc001yej.1_Nonsense_Mutation_p.S589* NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 589 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTGCAACCTTGAGAGCTGGGC 0.602 NA 24 35 0 0 0.007291 0 0 PLD4 122618 broad.mit.edu 37 14 105395257 105395257 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:105395257G>A uc001ypu.1 + 4 597 c.456G>A c.(454-456)TCG>TCA p.S152S PLD4_uc010tyl.1_Silent_p.S159S NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN phospholipase D4 152 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|skin(1) 2 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) TCAACGACTCGTCTTCCCAGC 0.652 NA 15 52 0 0 0.006122 0 0 HERC2 8924 broad.mit.edu 37 15 28456198 28456198 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr15:28456198C>G uc001zbj.2 - 44 7125 c.7019G>C c.(7018-7020)CGG>CCG p.R2340P NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2340 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) CAGGATCTGCCGCAGTTTATC 0.502 NA 17 102 0 0 0.010504 0 0 GJD2 57369 broad.mit.edu 37 15 35045111 35045111 + Silent SNP T T G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr15:35045111T>G uc001zis.1 - 2 534 c.534A>C c.(532-534)CCA>CCC p.P178P uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 178 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GTAGACCTGATGGGTGTGGAG 0.483 NA 39 219 0 0 0.005524 0 0 ZNF280D 54816 broad.mit.edu 37 15 56923982 56923982 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr15:56923982C>G uc002adu.2 - 22 2871 c.2654G>C c.(2653-2655)CGA>CCA p.R885P uc002ads.2_5'Flank|ZNF280D_uc002adv.2_Missense_Mutation_p.R872P|ZNF280D_uc010bfq.2_Missense_Mutation_p.R885P|ZNF280D_uc002adt.2_Missense_Mutation_p.R126P|ZNF280D_uc010bfp.2_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 885 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) TGATGCTAATCGCAAATCCTT 0.343 NA 9 78 0 0 0.004482 0 0 NOX5 79400 broad.mit.edu 37 15 69327818 69327818 + Missense_Mutation SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr15:69327818T>A uc002ars.1 + 6 1000 c.980T>A c.(979-981)GTG>GAG p.V327E NOX5_uc002arp.1_Missense_Mutation_p.V309E|NOX5_uc002arq.1_Missense_Mutation_p.V281E|NOX5_uc010bid.1_Missense_Mutation_p.V292E|NOX5_uc002arr.1_Missense_Mutation_p.V299E|NOX5_uc010bie.1_Missense_Mutation_p.V127E|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 327 Ferric oxidoreductase.|Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 CTGTCCCTCGTGCACACCGTG 0.612 NA 7 55 0 0 0.004482 0 0 RHCG 51458 broad.mit.edu 37 15 90020439 90020439 + Splice_Site SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr15:90020439T>A uc002bnz.2 - 8 1137 c.1113_splice c.e8-1 p.G371_splice RHCG_uc002bny.2_Splice_Site_p.G142_splice|RHCG_uc002boa.2_Splice_Site NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) TGGACAAGCCTGGGGTGGAGA 0.567 NA 7 106 0 0 0.004482 0 0 SV2B 9899 broad.mit.edu 37 15 91835612 91835612 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr15:91835612G>T uc002bqv.2 + 12 2273 c.1882G>T c.(1882-1884)GGC>TGC p.G628C SV2B_uc010uqv.1_Missense_Mutation_p.G477C|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 628 Helical; (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) AACAGCCTTCGGCATTCTCAA 0.448 NA 38 87 7.05121e-23 1.15317e-22 0.010771 1 0 LRRK1 79705 broad.mit.edu 37 15 101523840 101523840 + Silent SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr15:101523840A>T uc002bwr.2 + 4 688 c.369A>T c.(367-369)CCA>CCT p.P123P LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Silent_p.P123P NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 123 ANK 2. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGACAACCCAGCCGTGGTGG 0.562 NA 24 42 0 0 0.003755 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476052 27476052 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr16:27476052C>G uc002dov.1 - 34 5501 c.5461G>C c.(5461-5463)GAC>CAC p.D1821H GTF3C1_uc002dou.2_Missense_Mutation_p.D1821H NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1821 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCTTCTCTGTCTTTCAGCCGC 0.662 NA 22 55 0 0 0.005443 0 0 NOD2 64127 broad.mit.edu 37 16 50746260 50746260 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr16:50746260G>C uc002egm.1 + 4 2543 c.2438G>C c.(2437-2439)TGC>TCC p.C813S NOD2_uc010cbk.1_Missense_Mutation_p.C786S|NOD2_uc002egl.1_Missense_Mutation_p.C591S|NOD2_uc010cbl.1_Missense_Mutation_p.C591S|NOD2_uc010cbm.1_Missense_Mutation_p.C591S|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_RNA|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_RNA NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 813 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CTGCTGCCTTGCCTTGGTGTC 0.522 NA 58 160 0 0 0.00361 0 0 SLC6A2 6530 broad.mit.edu 37 16 55719131 55719131 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr16:55719131C>A uc002eif.2 + 5 832 c.721C>A c.(721-723)CTG>ATG p.L241M SLC6A2_uc010ccd.2_Missense_Mutation_p.L241M|SLC6A2_uc002eig.2_Missense_Mutation_p.L241M|SLC6A2_uc002eih.2_Missense_Mutation_p.L241M|SLC6A2_uc002eii.2_Missense_Mutation_p.L136M|SLC6A2_uc002eij.2_Translation_Start_Site NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 241 Helical; Name=4; (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CTTGCTCTGTCTGATGGTCGT 0.537 NA 9 41 6.40141e-05 7.38986e-05 0.010729 1 0 ZNF23 7571 broad.mit.edu 37 16 71482826 71482826 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr16:71482826C>T uc002faf.2 - 6 1916 c.1102G>A c.(1102-1104)GAG>AAG p.E368K ZNF23_uc002fad.2_Missense_Mutation_p.E310K|ZNF23_uc002fae.2_Missense_Mutation_p.E310K|ZNF23_uc010vmf.1_Missense_Mutation_p.E310K|ZNF23_uc002fag.2_Missense_Mutation_p.E310K|ZNF23_uc002fah.2_Missense_Mutation_p.E368K|ZNF23_uc002fai.2_Missense_Mutation_p.E407K NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 368 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TTTCCACACTCTTTACACTGA 0.428 NA 26 48 0 0 0.007291 0 0 MINK1 50488 broad.mit.edu 37 17 4787674 4787674 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:4787674G>T uc010vsl.1 + 5 519 c.323G>T c.(322-324)TGT>TTT p.C108F MINK1_uc010vsk.1_Missense_Mutation_p.C108F|MINK1_uc010vsm.1_Missense_Mutation_p.C108F|MINK1_uc010vsn.1_Missense_Mutation_p.C108F|MINK1_uc010vso.1_Missense_Mutation_p.C53F|MINK1_uc010vsp.1_5'Flank NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 108 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 ATGGAGTTCTGTGGTGCTGGT 0.542 NA 7 41 0.00198382 0.00217045 0.001984 1 0 MYH13 8735 broad.mit.edu 37 17 10265549 10265549 + Missense_Mutation SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:10265549A>T uc002gmk.1 - 5 481 c.391T>A c.(391-393)TGG>AGG p.W131R NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 131 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ACCGGCAGCCACTTGTAGGGG 0.527 NA 29 35 0 0 0.00361 0 0 DNAH9 1770 broad.mit.edu 37 17 11583119 11583119 + Missense_Mutation SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:11583119A>T uc002gne.2 + 18 3467 c.3399A>T c.(3397-3399)TTA>TTT p.L1133F DNAH9_uc010coo.2_Missense_Mutation_p.L427F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1133 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAGCGGCTTACTCAAGAAAG 0.433 NA 37 128 0 0 0.00623 0 0 USP22 23326 broad.mit.edu 37 17 20922486 20922486 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:20922486T>C uc002gym.3 - 4 635 c.431A>G c.(430-432)AAG>AGG p.K144R USP22_uc002gyn.3_Missense_Mutation_p.K132R|USP22_uc002gyl.3_Missense_Mutation_p.K39R NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN ubiquitin thiolesterase 22 144 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 AGTTGAAAACTTCTCTCCAAC 0.473 NA 41 116 0 0 0.003214 0 0 LHX1 3975 broad.mit.edu 37 17 35297911 35297911 + Silent SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:35297911C>G uc002hnh.1 + 3 1398 c.402C>G c.(400-402)ACC>ACG p.T134T LHX1_uc010cux.1_Silent_p.T42T NM_005568 NP_005559 P48742 LHX1_HUMAN LIM homeobox protein 1 134 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(25;0.00607) TCTTAGCCACCACGGGCAGTG 0.647 NA 12 35 0 0 0.010729 0 0 GJC1 10052 broad.mit.edu 37 17 42882388 42882388 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:42882388C>A uc002ihj.2 - 2 1309 c.798G>T c.(796-798)AGG>AGT p.R266S GJC1_uc002ihk.2_Missense_Mutation_p.R266S|GJC1_uc002ihl.2_Missense_Mutation_p.R266S|GJC1_uc010czx.2_Missense_Mutation_p.R266S|GJC1_uc010czy.1_Missense_Mutation_p.R127S NM_005497 NP_005488 P36383 CXG1_HUMAN connexin 45 266 Cytoplasmic (Potential). cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane 0 Prostate(33;0.0959) CAAGTTCCCTCCTTTTACTGT 0.433 NA 20 190 8.10497e-08 1.00591e-07 0.010504 1 0 ANKFN1 162282 broad.mit.edu 37 17 54517752 54517752 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:54517752G>T uc002iun.1 + 8 1019 c.984G>T c.(982-984)CAG>CAT p.Q328H NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 328 Fibronectin type-III. large_intestine(1)|ovary(1) 2 ATAATCTGCAGACTCTGAGAT 0.448 NA 12 50 3.27435e-08 4.11259e-08 0.00245 1 0 RAB40B 10966 broad.mit.edu 37 17 80622412 80622412 + Missense_Mutation SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:80622412T>A uc002kft.2 - 2 289 c.163A>T c.(163-165)ACC>TCC p.T55S RAB40B_uc002kfs.2_RNA NM_006822 NP_006813 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 55 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1) 1 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) AGCAGGATGGTGGTCGTCTTG 0.627 NA 22 86 0 0 0.005443 0 0 TBCD 6904 broad.mit.edu 37 17 80828189 80828189 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr17:80828189G>T uc002kfz.2 + 14 1538 c.1408G>T c.(1408-1410)GTG>TTG p.V470L TBCD_uc002kfx.1_Missense_Mutation_p.V453L|TBCD_uc002kfy.1_Missense_Mutation_p.V470L NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 470 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CGCCTGCTACGTGTGCTGGGC 0.632 NA 9 34 4.36969e-10 5.78938e-10 0.001855 1 0 CLUL1 27098 broad.mit.edu 37 18 627315 627315 + Missense_Mutation SNP A A T rs115407065 by1000genomes TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr18:627315A>T uc002kkp.2 + 5 787 c.642A>T c.(640-642)CAA>CAT p.Q214H CLUL1_uc010wys.1_Missense_Mutation_p.Q266H|CLUL1_uc002kkq.2_Missense_Mutation_p.Q214H NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 214 cell death extracellular region ovary(2) 2 AGACTTTTCAATCACATTTCA 0.408 NA 83 266 0 0 0.00361 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr18:14513675T>C uc010dln.2 - 10 1973 c.1519A>G c.(1519-1521)AAA>GAA p.K507E POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 507 Potential. skin(3) 3 GAATTCATTTTCTTTTCAGCC 0.284 NA 3 68 0 0 0.004672 0 0 ASXL3 80816 broad.mit.edu 37 18 31319575 31319575 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr18:31319575T>C uc010dmg.1 + 11 2262 c.2207T>C c.(2206-2208)CTC>CCC p.L736P ASXL3_uc002kxq.2_Missense_Mutation_p.L443P NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 736 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCCATGCTTCTCACCTCTGAG 0.413 NA 120 351 0 0 0.00361 0 0 KIAA1632 57724 broad.mit.edu 37 18 43460143 43460143 + Missense_Mutation SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr18:43460143A>T uc002lbm.2 - 32 5664 c.5564T>A c.(5563-5565)CTG>CAG p.L1855Q KIAA1632_uc010xcq.1_Missense_Mutation_p.L409Q|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.L730Q NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1855 autophagy 0 CAGGGCTCTCAGAGTGGCCTT 0.622 NA OREG0024951 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 37 0 0 0.006214 0 0 RTTN 25914 broad.mit.edu 37 18 67860546 67860546 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr18:67860546C>A uc002lkp.2 - 8 1053 c.985G>T c.(985-987)GAC>TAC p.D329Y RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D329Y NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 329 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) GCATCCCAGTCCTGGCCATCT 0.537 NA 23 65 2.39556e-15 3.48244e-15 0.00278 1 0 LSR 51599 broad.mit.edu 37 19 35757268 35757268 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:35757268C>T uc002nyl.2 + 6 1152 c.929C>T c.(928-930)GCC>GTC p.A310V LSR_uc002nym.2_Missense_Mutation_p.A291V|LSR_uc002nyn.2_Missense_Mutation_p.A242V|LSR_uc002nyo.2_Missense_Mutation_p.A291V|LSR_uc010xsr.1_Missense_Mutation_p.A202V|LSR_uc002nyp.2_Missense_Mutation_p.A273V|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 310 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACAGTGTATGCCGCCGGCAAA 0.617 NA 4 105 0 0 0.009096 0 0 USF2 7392 broad.mit.edu 37 19 35761708 35761708 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:35761708C>T uc002nyq.1 + 6 777 c.668C>T c.(667-669)CCA>CTA p.P223L USF2_uc010xss.1_Missense_Mutation_p.P223L|USF2_uc002nyr.1_Missense_Mutation_p.P156L|USF2_uc002nys.1_Missense_Mutation_p.P25L|USF2_uc002nyt.1_Missense_Mutation_p.P92L|USF2_uc002nyu.1_Missense_Mutation_p.P25L|USF2_uc002nyv.1_Missense_Mutation_p.P25L NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 223 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTTACTCTCCGTATGTGCAG 0.572 NSCLC(103;173 2832 8890) NA 32 94 0 0 0.003271 0 0 EID2B 126272 broad.mit.edu 37 19 40023401 40023401 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:40023401G>A uc002olz.1 - 1 94 c.42C>T c.(40-42)CCC>CCT p.P14P NM_152361 NP_689574 Q96D98 EID2B_HUMAN EP300 interacting inhibitor of differentiation 14 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGCTATCTCCGGGGAGCTCGG 0.652 NA OREG0025463 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 0.004672 0 0 CCDC61 729440 broad.mit.edu 37 19 46521386 46521386 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:46521386C>T uc002pdw.2 + 14 1476 c.1476C>T c.(1474-1476)TCC>TCT p.S492S MIR769_hsa-mir-769|MI0003834_5'Flank NM_001080402 NP_001073871 coiled-coil domain containing 61 ovary(1) 1 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) TGGCCAACTCCGGGGGCTGGG 0.612 NA 4 18 0 0 0.000602 0 0 NLRP7 199713 broad.mit.edu 37 19 55450436 55450436 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:55450436G>A uc002qih.3 - 4 1827 c.1751C>T c.(1750-1752)GCG>GTG p.A584V NLRP7_uc002qig.3_Missense_Mutation_p.A584V|NLRP7_uc002qii.3_Missense_Mutation_p.A584V|NLRP7_uc010esk.2_Missense_Mutation_p.A584V|NLRP7_uc010esl.2_Missense_Mutation_p.A612V NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 584 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CACCACCTTCGCCAGCTCCTC 0.493 NA 6 62 0 0 0.00308 0 0 NLRP11 204801 broad.mit.edu 37 19 56320357 56320357 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:56320357G>A uc010ygf.1 - 5 2330 c.1619C>T c.(1618-1620)ACG>ATG p.T540M NLRP11_uc002qlz.2_Missense_Mutation_p.T441M|NLRP11_uc002qmb.2_Missense_Mutation_p.T441M|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 540 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CATATGGTGCGTCAACTTTTC 0.448 NA 27 156 0 0 0.007291 0 0 NLRP4 147945 broad.mit.edu 37 19 56369782 56369782 + Silent SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:56369782G>T uc002qmd.3 + 3 1445 c.1023G>T c.(1021-1023)CCG>CCT p.P341P NLRP4_uc002qmf.2_Silent_p.P266P|NLRP4_uc010etf.2_Silent_p.P172P NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 341 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCCAAATCCCGCTCCTCTGCT 0.473 NA 13 66 0.000308642 0.00034612 0.003163 1 0 COLEC11 78989 broad.mit.edu 37 2 3685151 3685151 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:3685151C>A uc002qya.2 + 4 379 c.231C>A c.(229-231)GGC>GGA p.G77G COLEC11_uc002qxz.2_Silent_p.G74G|COLEC11_uc002qyb.2_Silent_p.G53G|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Silent_p.G51G|COLEC11_uc010ewq.2_Silent_p.G27G|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 77 Collagen-like. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GACAGAAAGGCAGTGTGGGTC 0.522 NA 11 82 1.58986e-06 1.92007e-06 0.008291 1 0 SMC6 79677 broad.mit.edu 37 2 17896178 17896178 + Silent SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:17896178T>A uc002rco.2 - 16 1976 c.1680A>T c.(1678-1680)CCA>CCT p.P560P SMC6_uc010exo.2_Silent_p.P560P|SMC6_uc002rcn.2_Silent_p.P560P|SMC6_uc002rcp.1_Silent_p.P586P|SMC6_uc002rcq.2_Silent_p.P586P NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 560 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTATTATCGGTGGCCGTGAGG 0.403 NA 52 115 0 0 0.00361 0 0 NRXN1 9378 broad.mit.edu 37 2 50149296 50149296 + Missense_Mutation SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:50149296A>G uc010fbp.2 - 6 1922 c.1115T>C c.(1114-1116)ATA>ACA p.I372T NRXN1_uc002rxb.3_Missense_Mutation_p.I1106T|NRXN1_uc010fbq.2_Missense_Mutation_p.I1477T|NRXN1_uc002rxe.3_Missense_Mutation_p.I1407T|NRXN1_uc010yon.1_Missense_Mutation_p.I72T|NRXN1_uc002rxa.3_Missense_Mutation_p.I69T NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 372 Helical; (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGCGGCTACTATCCCAACGAC 0.567 NA 9 65 0 0 0.001855 0 0 REG3A 5068 broad.mit.edu 37 2 79384741 79384741 + Silent SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:79384741G>C uc002sod.1 - 4 672 c.417C>G c.(415-417)ACC>ACG p.T139T REG3A_uc002soe.1_Silent_p.T139T|REG3A_uc002sof.1_Silent_p.T139T NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 139 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GGCTTGAGATGGTGGAGGGAT 0.542 NA 45 89 0 0 0.011902 0 0 FAHD2A 51011 broad.mit.edu 37 2 96078209 96078209 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:96078209G>T uc002sur.2 + 6 892 c.713G>T c.(712-714)CGA>CTA p.R238L FAHD2A_uc002sus.2_Missense_Mutation_p.R238L|uc002sut.1_5'Flank NM_016044 NP_057128 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 238 hydrolase activity|metal ion binding ovary(1) 1 ATCTGCTGCCGAGTGAATGGG 0.498 NA 30 98 2.08457e-15 3.04444e-15 0.010818 1 0 GCC2 9648 broad.mit.edu 37 2 109086113 109086113 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:109086113G>T uc002tec.2 + 6 482 c.328G>T c.(328-330)GTA>TTA p.V110L GCC2_uc002ted.2_Missense_Mutation_p.V9L NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 110 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 ATAGGATTCTGTAACAAAGAT 0.328 NA 12 69 0.00185496 0.0020509 0.001855 1 0 TUBA3D 113457 broad.mit.edu 37 2 132237849 132237849 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:132237849C>A uc002tsu.3 + 4 690 c.583C>A c.(583-585)CTG>ATG p.L195M NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 195 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CCACACGACCCTGGAACATTC 0.547 Ovarian(137;2059 2432 35543 39401) NA 18 242 3.33393e-15 4.80209e-15 0.004878 1 0 NCKAP5 344148 broad.mit.edu 37 2 133541998 133541998 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:133541998G>C uc002ttp.2 - 14 2760 c.2386C>G c.(2386-2388)CAA>GAA p.Q796E NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 796 protein binding 0 TTTTGCTTTTGATAGATGCCC 0.463 NA 52 241 0 0 0.00361 0 0 THSD7B 80731 broad.mit.edu 37 2 138163266 138163266 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:138163266C>A uc002tva.1 + 12 2491 c.2491C>A c.(2491-2493)CAA>AAA p.Q831K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.Q721K NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TCTCCTTGTGCAAGAATGCAC 0.502 NA 11 47 3.07112e-06 3.68065e-06 0.010729 1 0 SPOPL 339745 broad.mit.edu 37 2 139322555 139322555 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:139322555G>T uc002tvh.2 + 10 1426 c.1026G>T c.(1024-1026)TGG>TGT p.W342C NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 342 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GGAAAAACTGGAACAGCAAGT 0.343 NA 18 70 2.4624e-09 3.20827e-09 0.008871 1 0 CYTIP 9595 broad.mit.edu 37 2 158272582 158272582 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:158272582C>A uc002tzj.1 - 8 759 c.687G>T c.(685-687)GGG>GGT p.G229G CYTIP_uc010zcl.1_Silent_p.G123G NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 229 regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 CTGGGCCTGGCCCAGGCAGGG 0.512 NA 21 68 1.96895e-08 2.51321e-08 0.00278 1 0 DPP4 1803 broad.mit.edu 37 2 162902123 162902123 + Splice_Site SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:162902123C>T uc002ubz.2 - 5 847 c.286_splice c.e5-1 p.D96_splice DPP4_uc010fpb.2_Splice_Site|DPP4_uc002uca.1_Splice_Site|DPP4_uc002ucb.1_Splice_Site NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) CAAACTCATCCTGTCAAACAA 0.353 NA 8 46 0 0 0.006214 0 0 XIRP2 129446 broad.mit.edu 37 2 168100444 168100444 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:168100444C>A uc002udx.2 + 8 2560 c.2542C>A c.(2542-2544)CAG>AAG p.Q848K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q673K|XIRP2_uc010fpq.2_Missense_Mutation_p.Q626K|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 673 Xin 9. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTTTGAAACCCAGCCATTAGA 0.373 NA 45 117 8.04919e-23 1.30956e-22 0.00361 1 0 WDR12 55759 broad.mit.edu 37 2 203764280 203764280 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:203764280G>A uc002uzl.2 - 4 1062 c.312C>T c.(310-312)ATC>ATT p.I104I WDR12_uc010ftt.2_Silent_p.I104I NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 104 Sufficient for nucleolar localization.|WD 1. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 TAATTGAACTGATCCAGTCAT 0.388 NA 6 129 0 0 0.001168 0 0 SLC19A3 80704 broad.mit.edu 37 2 228564115 228564115 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:228564115T>C uc002vpi.2 - 3 405 c.316A>G c.(316-318)ATG>GTG p.M106V SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.M102V NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 106 Extracellular (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ACAACCTGCATGGTCTTCACT 0.527 NA 5 223 0 0 0.004482 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882302 228882302 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr2:228882302C>A uc002vpq.2 - 7 3315 c.3268G>T c.(3268-3270)GAC>TAC p.D1090Y SPHKAP_uc002vpp.2_Missense_Mutation_p.D1090Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1090Y NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1090 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCCTCGGAGTCTTCCTCAGGA 0.627 NA 10 37 3.86212e-05 4.4915e-05 0.008291 1 0 C20orf46 55321 broad.mit.edu 37 20 1162053 1162053 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:1162053C>T uc010gaa.1 - 3 429 c.210G>A c.(208-210)GAG>GAA p.E70E C20orf46_uc002weq.1_Silent_p.E70E NM_018354 NP_060824 Q9NUR3 CT046_HUMAN hypothetical protein LOC55321 70 integral to membrane protein binding ovary(1) 1 GGAAATGGGTCTCATGCTCCT 0.637 NA 9 67 0 0 0.004482 0 0 CHGB 1114 broad.mit.edu 37 20 5903619 5903619 + Nonsense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:5903619C>T uc002wmg.2 + 4 1135 c.829C>T c.(829-831)CGA>TGA p.R277* CHGB_uc010zqz.1_Translation_Start_Site NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 277 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GGTGGACAAACGACGCACGAG 0.607 NA 3 22 0 0 0.004672 0 0 PROCR 10544 broad.mit.edu 37 20 33764159 33764159 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:33764159T>C uc002xbt.2 + 3 695 c.511T>C c.(511-513)TAC>CAC p.Y171H EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.Y208H NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN endothelial protein C receptor precursor 171 Extracellular (Potential). antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity 0 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GCTCAATGCCTACAACCGCAC 0.557 NA 3 174 0 0 0.004672 0 0 DSN1 79980 broad.mit.edu 37 20 35386512 35386512 + Nonsense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:35386512C>A uc010gfr.2 - 8 1076 c.703G>T c.(703-705)GAG>TAG p.E235* DSN1_uc002xfz.2_Nonsense_Mutation_p.E235*|DSN1_uc002xfy.3_Nonsense_Mutation_p.E25*|DSN1_uc002xga.2_Nonsense_Mutation_p.E235*|DSN1_uc010zvs.1_Nonsense_Mutation_p.E128*|DSN1_uc002xgc.2_Nonsense_Mutation_p.E219*|DSN1_uc002xgb.2_Nonsense_Mutation_p.E219* NM_001145316 NP_001138788 Q9H410 DSN1_HUMAN DSN1, MIND kinetochore complex component, 235 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding ovary(2) 2 Myeloproliferative disorder(115;0.00874) TCTTTAGCCTCCTGCTGGTAG 0.338 NA 9 36 3.86212e-05 4.4915e-05 0.008291 1 0 PTPRT 11122 broad.mit.edu 37 20 41385102 41385102 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:41385102C>T uc002xkg.2 - 6 1043 c.859G>A c.(859-861)GAG>AAG p.E287K PTPRT_uc010ggj.2_Missense_Mutation_p.E287K NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 287 Extracellular (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGCACTCACCTTTCACGATC 0.567 NA 16 24 0 0 0.004007 0 0 BCAS1 8537 broad.mit.edu 37 20 52570044 52570044 + Missense_Mutation SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:52570044A>T uc002xws.2 - 11 1945 c.1607T>A c.(1606-1608)CTG>CAG p.L536Q BCAS1_uc010zza.1_Missense_Mutation_p.L202Q|BCAS1_uc010zzb.1_Missense_Mutation_p.L462Q|BCAS1_uc010gim.2_Missense_Mutation_p.L392Q|BCAS1_uc002xwt.2_Missense_Mutation_p.L522Q|BCAS1_uc010gil.1_Missense_Mutation_p.L458Q NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 536 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CCCATTCTGCAGTGAGTTCGT 0.527 NA 50 134 0 0 0.00361 0 0 BMP7 655 broad.mit.edu 37 20 55803316 55803316 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:55803316C>A uc010gip.1 - 2 1109 c.580G>T c.(580-582)GTT>TTT p.V194F BMP7_uc010giq.1_Missense_Mutation_p.V194F|BMP7_uc002xyc.2_Missense_Mutation_p.V194F NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 194 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) ACCTGATAAACGCTGATCCGG 0.562 NA 63 198 1.17004e-41 2.07567e-41 0.00361 1 0 KCNQ2 3785 broad.mit.edu 37 20 62076647 62076647 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:62076647C>A uc002yey.1 - 3 635 c.458G>T c.(457-459)CGG>CTG p.R153L KCNQ2_uc002yez.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfa.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfb.1_Missense_Mutation_p.R153L|KCNQ2_uc011aax.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfc.1_Missense_Mutation_p.R153L NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 153 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GCCACGGTACCGGCAGCAGCA 0.612 NA 8 16 6.31663e-08 7.87072e-08 0.003163 1 0 DIP2A 23181 broad.mit.edu 37 21 47904726 47904726 + Missense_Mutation SNP A A C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr21:47904726A>C uc002zjo.2 + 2 331 c.148A>C c.(148-150)ATA>CTA p.I50L DIP2A_uc011afy.1_Intron|DIP2A_uc011afz.1_Missense_Mutation_p.I50L|DIP2A_uc002zjl.2_Missense_Mutation_p.I50L|DIP2A_uc002zjm.2_Missense_Mutation_p.I50L|DIP2A_uc010gql.2_Missense_Mutation_p.I50L|DIP2A_uc002zjn.2_Missense_Mutation_p.I50L NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 50 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGCACGTTATATACCGCTTAT 0.308 NA 3 8 0 0 0.009096 0 0 RFPL2 10739 broad.mit.edu 37 22 32587072 32587072 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr22:32587072C>A uc003amg.3 - 5 1760 c.824G>T c.(823-825)GGA>GTA p.G275V RFPL2_uc003ame.3_Missense_Mutation_p.G214V|RFPL2_uc003amf.3_Missense_Mutation_p.G185V|RFPL2_uc003amh.3_Missense_Mutation_p.G185V NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 275 B30.2/SPRY. zinc ion binding skin(1) 1 AGTCCAGAATCCAAGCTCTGT 0.572 NA 21 75 8.24728e-16 1.2158e-15 0.004656 1 0 C22orf33 339669 broad.mit.edu 37 22 37387601 37387601 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr22:37387601C>A uc003aqf.2 - 5 812 c.666G>T c.(664-666)AAG>AAT p.K222N C22orf33_uc003aqe.2_Missense_Mutation_p.K137N NM_001163857 NP_001157329 O43247 EAN57_HUMAN hypothetical protein LOC339669 isoform 1 222 0 TGTAAGAAGCCTTCATGAGGC 0.507 NA 27 178 4.31634e-10 5.76736e-10 0.012213 1 0 NCAPH2 29781 broad.mit.edu 37 22 50960275 50960275 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr22:50960275C>T uc003blr.3 + 12 1228 c.1106C>T c.(1105-1107)GCC>GTC p.A369V NCAPH2_uc003blv.2_Missense_Mutation_p.A369V|NCAPH2_uc010hbb.2_Missense_Mutation_p.A220V|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.A369V|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 369 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) TACCTGGCTGCCTGTGAGTGG 0.642 NA 12 50 0 0 0.010729 0 0 CNTN4 152330 broad.mit.edu 37 3 3078942 3078942 + Silent SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:3078942A>T uc003bpc.2 + 17 2243 c.2022A>T c.(2020-2022)ACA>ACT p.T674T CNTN4_uc003bpb.1_Silent_p.T345T|CNTN4_uc003bpd.1_Silent_p.T674T|CNTN4_uc003bpe.2_Silent_p.T346T|CNTN4_uc003bpf.2_Silent_p.T345T|CNTN4_uc003bpg.2_5'Flank NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 674 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AATTCCGCACAGTTGCAGCCA 0.517 NA 140 260 0 0 0.00361 0 0 POU1F1 5449 broad.mit.edu 37 3 87309058 87309058 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:87309058G>T uc003dqq.1 - 6 987 c.862C>A c.(862-864)CTT>ATT p.L288I POU1F1_uc010hoj.1_Missense_Mutation_p.L314I NM_000306 NP_000297 P28069 PIT1_HUMAN pituitary specific transcription factor 1 288 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|skin(1) 2 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) CTGCACTCAAGATGTTCCTTA 0.348 NA 25 76 9.90768e-06 1.17841e-05 0.004656 1 0 EPHA6 285220 broad.mit.edu 37 3 97454809 97454809 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:97454809C>T uc010how.1 + 16 3018 c.2975C>T c.(2974-2976)CCC>CTC p.P992L EPHA6_uc003drt.2_Missense_Mutation_p.P384L|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 897 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTTCCAGCTCCCATGGGCTGT 0.423 NA 30 44 0 0 0.003271 0 0 C3orf15 89876 broad.mit.edu 37 3 119445030 119445030 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:119445030C>T uc003ede.3 + 7 772 c.695C>T c.(694-696)CCA>CTA p.P232L C3orf15_uc010hqy.1_Missense_Mutation_p.P232L|C3orf15_uc010hqz.2_Missense_Mutation_p.P170L|C3orf15_uc011bjd.1_Missense_Mutation_p.P106L|C3orf15_uc011bje.1_Missense_Mutation_p.P212L|C3orf15_uc010hra.1_5'UTR NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 232 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) CGGGGTCTCCCAGCAGGACAA 0.547 NA 20 20 0 0 0.00278 0 0 COPG 22820 broad.mit.edu 37 3 128971533 128971533 + Missense_Mutation SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:128971533A>G uc003els.2 + 4 339 c.239A>G c.(238-240)AAT>AGT p.N80S COPG_uc010htb.2_5'UTR NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 80 HEAT 1. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 TTTCAGTCCAATGATGTAAGT 0.562 NA 51 64 0 0 0.00361 0 0 MED12L 116931 broad.mit.edu 37 3 151085496 151085496 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:151085496G>T uc003eyp.2 + 22 3323 c.3285G>T c.(3283-3285)CAG>CAT p.Q1095H MED12L_uc011bnz.1_Missense_Mutation_p.Q955H|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.Q258H NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1095 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGCACGACAGTGTTTTTCCC 0.433 NA 70 115 3.1711e-36 5.5627e-36 0.00361 1 0 APBB2 323 broad.mit.edu 37 4 40946967 40946967 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:40946967C>A uc003gvl.2 - 7 1586 c.956G>T c.(955-957)CGG>CTG p.R319L APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Missense_Mutation_p.R319L|APBB2_uc003gvn.2_Missense_Mutation_p.R320L|APBB2_uc011byt.1_Missense_Mutation_p.R302L NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 319 WW. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 GGAGACGGGCCGTTCCCACTG 0.532 Ovarian(3;20 75 16686 49997) NA 27 92 8.58068e-18 1.30161e-17 0.007291 1 0 RASGEF1B 153020 broad.mit.edu 37 4 82369318 82369318 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:82369318C>G uc003hmi.1 - 5 703 c.559G>C c.(559-561)GTT>CTT p.V187L RASGEF1B_uc003hmj.1_Missense_Mutation_p.V186L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V145L NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 187 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 GTCTTGAGAACTGTGAGCCGA 0.502 NA 26 158 0 0 0.004656 0 0 ADH1B 125 broad.mit.edu 37 4 100239267 100239267 + Silent SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:100239267A>T uc003hus.3 - 3 279 c.195T>A c.(193-195)ATT>ATA p.I65I ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.I25I|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Silent_p.I25I NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 65 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) CATGGCCTAAAATCACAGGAA 0.517 NA 37 166 0 0 0.007835 0 0 ANP32C 23520 broad.mit.edu 37 4 165118386 165118386 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:165118386C>G uc011cjk.1 - 1 478 c.478G>C c.(478-480)GTG>CTG p.V160L MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 160 Asp/Glu-rich (highly acidic). 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) AGGCCCTCCACGTGGTCCTCA 0.438 NA 17 61 0 0 0.004007 0 0 WWC2 80014 broad.mit.edu 37 4 184205516 184205516 + Silent SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:184205516A>T uc010irx.2 + 19 3203 c.3021A>T c.(3019-3021)CCA>CCT p.P1007P WWC2_uc003ivk.3_Silent_p.P802P|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Silent_p.P689P|WWC2_uc003ivn.3_Silent_p.P522P|WWC2_uc010irz.2_Silent_p.P348P|WWC2_uc003ivo.3_Silent_p.P135P NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 1007 ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) CCTTTTCTCCAGGAGAGCGGA 0.572 NA 15 103 0 0 0.006122 0 0 F11 2160 broad.mit.edu 37 4 187208902 187208902 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:187208902G>C uc003iza.1 + 14 1974 c.1641G>C c.(1639-1641)AAG>AAC p.K547N uc003izb.1_Intron NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 547 Peptidase S1.|Heparin-binding. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGTGCCAGAAGAGATACAGAG 0.413 NA 14 111 0 0 0.00499 0 0 ZFP42 132625 broad.mit.edu 37 4 188924086 188924086 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:188924086C>A uc003izg.1 + 3 370 c.125C>A c.(124-126)CCT>CAT p.P42H ZFP42_uc003izh.1_Missense_Mutation_p.P42H|ZFP42_uc003izi.1_Missense_Mutation_p.P42H NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 42 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAATAGAACCTGTCAGCGCG 0.562 NA 11 59 5.50884e-06 6.57709e-06 0.001368 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5239824 5239824 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:5239824G>T uc003jdl.2 + 16 2447 c.2309G>T c.(2308-2310)GGA>GTA p.G770V ADAMTS16_uc003jdk.1_Missense_Mutation_p.G770V NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 770 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATTCCTTCTGGAGCCCGGAGT 0.473 NA 82 210 2.38877e-28 4.03266e-28 0.00361 1 0 TRIO 7204 broad.mit.edu 37 5 14331009 14331010 + Splice_Site DNP GG GG TT TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:14331009_14331010GG>TT uc003jff.2 + 10 1860 c.1854_splice c.e10+1 p.Q618_splice TRIO_uc003jfg.2_Splice_Site|TRIO_uc011cna.1_Splice_Site_p.Q569_splice|TRIO_uc003jfh.1_Splice_Site_p.Q267_splice NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AAGTGGCACAGGTAAAACAATG 0.396 NA 49 189 0 0 0.004672 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561189 33561189 + Silent SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:33561189A>T uc003jia.1 - 20 4231 c.4068T>A c.(4066-4068)CCT>CCA p.P1356P ADAMTS12_uc010iuq.1_Silent_p.P1271P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1356 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ATCTTTTTGCAGGGTCAGGTC 0.567 NA HNSCC(64;0.19) 39 143 0 0 0.010771 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576896 33576896 + Missense_Mutation SNP G G C rs145508149 byFrequency TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:33576896G>C uc003jia.1 - 19 3398 c.3235C>G c.(3235-3237)CGC>GGC p.R1079G ADAMTS12_uc010iuq.1_Missense_Mutation_p.R994G NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1079 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ATGAGATAGCGAGAGCTCAGC 0.517 NA HNSCC(64;0.19) 23 87 0 0 0.004656 0 0 NUP155 9631 broad.mit.edu 37 5 37370996 37370996 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:37370996C>A uc003jku.1 - 1 202 c.84G>T c.(82-84)CGG>CGT p.R28R NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Silent_p.R28R NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 28 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGTCGATGAGCCGTCCAGCAT 0.572 NA 37 139 4.62619e-21 7.37372e-21 0.004289 1 0 APC 324 broad.mit.edu 37 5 112175531 112175531 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:112175531G>A uc010jby.2 + 16 4620 c.4240G>A c.(4240-4242)GTA>ATA p.V1414I APC_uc011cvt.1_Missense_Mutation_p.V1396I|APC_uc003kpz.3_Missense_Mutation_p.V1414I|APC_uc003kpy.3_Missense_Mutation_p.V1414I|APC_uc010jbz.2_Missense_Mutation_p.V1131I|APC_uc010jca.2_Missense_Mutation_p.V714I NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1414 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.V1414fs*1(8)|p.V1414fs*9(6)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414fs*5(1)|p.V1414I(1)|p.V1414fs*3(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGTGGAATGGTAAGTGGCAT 0.478 NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 29 64 0 0 0.008361 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203040 140203040 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:140203040C>A uc003lhl.2 + 1 1680 c.1680C>A c.(1678-1680)AAC>AAA p.N560K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.N560K|PCDHA5_uc003lhj.1_Missense_Mutation_p.N560K NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 560 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACGACAACGCGCCGGCGC 0.711 NA 48 95 1.27862e-28 2.1702e-28 0.00361 1 0 PCDHA13 56136 broad.mit.edu 37 5 140263146 140263146 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:140263146C>A uc003lif.2 + 1 1293 c.1293C>A c.(1291-1293)GGC>GGA p.G431G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G431G|PCDHA13_uc003lid.2_Silent_p.G431G NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 431 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACGGGGGCTCGCCTTCGC 0.652 Melanoma(147;1739 1852 5500 27947 37288) NA 30 110 2.19962e-31 3.7537e-31 0.00874 1 0 PCDHB1 29930 broad.mit.edu 37 5 140433455 140433455 + Missense_Mutation SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:140433455T>A uc003lik.1 + 1 2477 c.2400T>A c.(2398-2400)GAT>GAA p.D800E NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 800 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAATTCTGATAGGAATAAGT 0.438 NA 40 116 0 0 0.009718 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763083 140763083 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:140763083G>T uc003lka.1 + 1 617 c.617G>T c.(616-618)CGG>CTG p.R206L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R206L NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 206 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGAAGAGCGGGTTCACCAC 0.622 NA 7 27 5.4927e-09 7.06848e-09 0.004482 1 0 PCDHGB8P 56120 broad.mit.edu 37 5 140807640 140807640 + Nonsense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:140807640G>T uc011daz.1 + 1 1788 c.1429G>T c.(1429-1431)GGA>TGA p.G477* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_5'Flank|PCDHGA12_uc003lkt.1_5'Flank NR_001297 Homo sapiens PCDH-psi3 pseudogene, mRNA sequence. 0 CGCAGATTCGGGACACAACGC 0.657 NA 10 24 2.27111e-07 2.79658e-07 0.001368 1 0 SH3TC2 79628 broad.mit.edu 37 5 148386452 148386452 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:148386452G>T uc003lpu.2 - 16 3819 c.3667C>A c.(3667-3669)CAG>AAG p.Q1223K SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.Q867K|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.Q770K|SH3TC2_uc010jgx.2_Missense_Mutation_p.Q1216K NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1223 TPR 8. binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTTCAGCTGGCAGAAGGTG 0.552 NA 49 122 4.88482e-21 7.74664e-21 0.00361 1 0 PDE6A 5145 broad.mit.edu 37 5 149264140 149264140 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:149264140G>T uc003lrg.3 - 16 2049 c.1929C>A c.(1927-1929)AGC>AGA p.S643R NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 643 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGATATTCAGGCTCTAAAGAA 0.483 NA 19 67 1.40151e-16 2.08566e-16 0.010504 1 0 KIF4B 285643 broad.mit.edu 37 5 154394443 154394443 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:154394443G>C uc010jih.1 + 1 1184 c.1024G>C c.(1024-1026)GTT>CTT p.V342L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 342 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAAACCTATTGTTAATATTGA 0.433 NA 84 243 0 0 0.00361 0 0 TIMD4 91937 broad.mit.edu 37 5 156378554 156378554 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:156378554C>T uc003lwh.2 - 3 705 c.648G>A c.(646-648)GAG>GAA p.E216E TIMD4_uc010jii.2_Silent_p.E216E NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 216 Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTTAGAAGGCTCGGGAGTCA 0.532 NA 26 91 0 0 0.012213 0 0 ADAM19 8728 broad.mit.edu 37 5 156932741 156932741 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:156932741C>A uc003lwz.2 - 11 1130 c.1066G>T c.(1066-1068)GAT>TAT p.D356Y ADAM19_uc003lww.1_Missense_Mutation_p.D89Y|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.D287Y NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 356 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTGCAGAATCATGGGTCATG 0.592 NA 15 17 3.41278e-10 4.61902e-10 0.00499 1 0 DRD1 1812 broad.mit.edu 37 5 174869878 174869878 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:174869878G>A uc003mcz.2 - 2 1170 c.225C>T c.(223-225)GTC>GTT p.V75V NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 75 Helical; Name=2; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GCATGACCAGGACGGCCACCA 0.562 NA 4 54 0 0 0.00308 0 0 UNC5A 90249 broad.mit.edu 37 5 176295144 176295144 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:176295144G>T uc003mey.2 + 3 498 c.306G>T c.(304-306)ATG>ATT p.M102I UNC5A_uc003mex.1_Missense_Mutation_p.M102I|UNC5A_uc010jkg.1_Missense_Mutation_p.M62I NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 102 Ig-like.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCCCACCATGGAGGTCCGCA 0.647 NA 45 130 1.86633e-21 2.98994e-21 0.00361 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178581831 178581832 + Missense_Mutation DNP GG GG TT TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:178581831_178581832GG>TT uc003mjw.2 - 7 1221_1222 c.1221_1222CC>AA c.(1219-1224)GCCCAT>GCAAAT p.H408N ADAMTS2_uc011dgm.1_Missense_Mutation_p.H408N NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 408 Peptidase M12B. Zinc; catalytic (By similarity). collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCAGTCTCATGGGCCACCACAA 0.639 NA 5 9 0 0 0.004672 0 0 NUP153 9972 broad.mit.edu 37 6 17637957 17637957 + Missense_Mutation SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:17637957C>T uc003ncd.1 - 16 2091 c.1891G>A c.(1891-1893)GCA>ACA p.A631T NUP153_uc011dje.1_Missense_Mutation_p.A662T|NUP153_uc010jpl.1_Missense_Mutation_p.A589T NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 631 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGGCTTGTTGCGGTGGGCTGA 0.443 NA 14 113 0 0 0.003163 0 0 PGBD1 84547 broad.mit.edu 37 6 28254889 28254889 + Missense_Mutation SNP G G C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:28254889G>C uc003nky.2 + 4 956 c.586G>C c.(586-588)GAA>CAA p.E196Q PGBD1_uc003nkz.2_Missense_Mutation_p.E196Q NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 196 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TCATCTCCAGGAAAAAAACCC 0.507 NA 20 41 0 0 0.003954 0 0 CFB 629 broad.mit.edu 37 6 31917095 31917095 + Missense_Mutation SNP G G A rs150398964 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:31917095G>A uc003nyj.3 + 9 1522 c.1244G>A c.(1243-1245)CGC>CAC p.R415H CFB_uc011dor.1_Missense_Mutation_p.R917H|CFB_uc003nyi.2_Missense_Mutation_p.R415H NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 415 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 GGCAAGGATCGCAAAAACCCA 0.522 NA 4 68 0 0 0.009096 0 0 RNF8 9025 broad.mit.edu 37 6 37336424 37336424 + Silent SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:37336424T>C uc003onq.3 + 3 598 c.405T>C c.(403-405)TGT>TGC p.C135C RNF8_uc003onr.3_Silent_p.C135C|RNF8_uc011dtx.1_Silent_p.C67C NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 135 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 TATATCCTTGTCTTTCCCCAA 0.398 NA 15 115 0 0 0.00245 0 0 TTBK1 84630 broad.mit.edu 37 6 43251119 43251119 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:43251119G>T uc003ouq.1 + 14 2920 c.2641G>T c.(2641-2643)GTA>TTA p.V881L NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 881 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCAGCTGGACGTATCTGAGCC 0.721 NA 3 14 0.00024832 0.000280477 0.009096 1 0 GPR115 221393 broad.mit.edu 37 6 47675979 47675979 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:47675979G>T uc003oza.1 + 3 371 c.113G>T c.(112-114)AGC>ATC p.S38I GPR115_uc003oyz.1_Missense_Mutation_p.S95I|GPR115_uc003ozb.1_Missense_Mutation_p.S36I NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 38 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 AAACTTCAAAGCCCTGAAGGG 0.438 GBM(22;431 510 9010 26644 32828) NA 21 36 5.35356e-11 7.37288e-11 0.00278 1 0 GCM1 8521 broad.mit.edu 37 6 52998877 52998877 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:52998877C>G uc003pbp.2 - 3 530 c.321G>C c.(319-321)AAG>AAC p.K107N GCM1_uc010jzr.2_Missense_Mutation_p.K107N NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 107 GCM. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) CACGCTGCTGCTTCTGCCGGG 0.622 NA 14 28 0 0 0.006122 0 0 DST 667 broad.mit.edu 37 6 56417220 56417220 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:56417220G>A uc003pdf.2 - 55 10041 c.10013C>T c.(10012-10014)CCT>CTT p.P3338L DST_uc003pcz.3_Missense_Mutation_p.P3160L|DST_uc011dxj.1_Missense_Mutation_p.P3189L|DST_uc011dxk.1_Missense_Mutation_p.P3200L|DST_uc003pcy.3_Missense_Mutation_p.P2834L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5246 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) AACAAGGTCAGGAGAGGTTTC 0.448 NA 13 70 0 0 0.00499 0 0 BAI3 577 broad.mit.edu 37 6 69349144 69349144 + Missense_Mutation SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:69349144T>A uc003pev.3 + 3 1025 c.577T>A c.(577-579)TAT>AAT p.Y193N BAI3_uc010kak.2_Missense_Mutation_p.Y193N NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 193 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGGGATCATGTATACAAAATG 0.463 NA 16 126 0 0 0.003163 0 0 TTK 7272 broad.mit.edu 37 6 80720675 80720675 + Splice_Site SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:80720675G>T uc003pjc.2 + 5 687 c.613_splice c.e5+1 p.A205_splice TTK_uc003pjb.3_Splice_Site_p.A205_splice NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AATTTATCAGGTAACTATTAA 0.333 NA 11 57 2.80697e-09 3.64211e-09 0.010729 1 0 FBXL4 26235 broad.mit.edu 37 6 99323305 99323305 + Missense_Mutation SNP T T G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:99323305T>G uc003ppf.1 - 8 2046 c.1688A>C c.(1687-1689)CAG>CCG p.Q563P FBXL4_uc003ppg.1_Missense_Mutation_p.Q563P|FBXL4_uc003pph.1_Missense_Mutation_p.Q165P|FBXL4_uc010kcp.2_Missense_Mutation_p.Q141P NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 563 LRR 8. ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TATGTCCAGCTGCTGTAACCT 0.353 NA 16 70 0 0 0.002299 0 0 EPB41L2 2037 broad.mit.edu 37 6 131190796 131190797 + Missense_Mutation DNP CA CA AT TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:131190796_131190797CA>AT uc003qch.2 - 15 2695_2696 c.2513_2514TG>AT c.(2512-2514)ATG>AAT p.M838N EPB41L2_uc003qce.1_Missense_Mutation_p.M216N|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.M235N NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 838 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTTCTTCTCCCATGTCTTGCTT 0.446 NA 71 188 0 0 0.004672 0 0 TXLNB 167838 broad.mit.edu 37 6 139609688 139609688 + Nonsense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:139609688C>A uc011eds.1 - 2 514 c.349G>T c.(349-351)GGA>TGA p.G117* NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 117 cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GGTGGCTCTCCAGAAGCAACG 0.473 NA 46 123 1.33152e-38 2.34886e-38 0.00361 1 0 SMOC2 64094 broad.mit.edu 37 6 169008863 169008863 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr6:169008863C>A uc003qws.1 + 9 871 c.851C>A c.(850-852)ACG>AAG p.T284K SMOC2_uc003qwr.1_Missense_Mutation_p.T295K NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 284 signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) TGTGACAACACGGCCAGGGCC 0.632 NA 6 17 8.12818e-05 9.24728e-05 0.001984 1 0 FBXL18 80028 broad.mit.edu 37 7 5540239 5540239 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:5540239C>A uc003soo.2 - 3 1755 c.1661G>T c.(1660-1662)GGC>GTC p.G554V FBXL18_uc003son.3_Missense_Mutation_p.G554V NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 554 LRR 10. central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GCACTGCAGGCCGATATTGAC 0.657 NA 5 30 0.00198382 0.00217045 0.001984 1 0 NXPH1 30010 broad.mit.edu 37 7 8790645 8790645 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:8790645G>T uc003srv.2 + 3 973 c.62G>T c.(61-63)TGT>TTT p.C21F NXPH1_uc011jxh.1_5'UTR NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 21 extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CAGGTCACATGTGCCAATTTA 0.408 NA 15 92 6.31663e-08 7.87072e-08 0.003163 1 0 NPC1L1 29881 broad.mit.edu 37 7 44571766 44571766 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:44571766C>A uc003tlb.2 - 9 2516 c.2460G>T c.(2458-2460)CCG>CCT p.P820P NPC1L1_uc003tlc.2_Silent_p.P820P|NPC1L1_uc011kbw.1_Silent_p.P820P NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 820 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CCTGGCCAGGCGGGGGCAGCT 0.647 NA 51 120 5.47352e-35 9.54826e-35 0.00361 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658885 72658885 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:72658885G>A uc003txs.1 - 13 1027 c.99C>T c.(97-99)GAC>GAT p.D33D FKBP6_uc003twz.2_Intron NR_002164 RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta; 0 ggccctcctggtctatcttgc 0 NA 92 154 0 0 0.00361 0 0 MGC26647 219557 broad.mit.edu 37 7 88423561 88423561 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:88423561C>A uc003ujv.2 - 2 878 c.696G>T c.(694-696)ATG>ATT p.M232I ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 232 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) GTCTATTATACATGTTTATAA 0.433 NA 21 54 4.63292e-17 6.92732e-17 0.008871 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95439773 95439773 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:95439773G>A uc003uoc.3 + 3 455 c.178G>A c.(178-180)GAG>AAG p.E60K DYNC1I1_uc003uod.3_Missense_Mutation_p.E60K|DYNC1I1_uc003uob.2_Missense_Mutation_p.E60K|DYNC1I1_uc003uoe.3_Missense_Mutation_p.E60K|DYNC1I1_uc010lfl.2_Missense_Mutation_p.E66K NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 60 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ACGAGAGACAGAGGCTTTGCT 0.453 NA 11 27 0 0 0.00245 0 0 C7orf52 375607 broad.mit.edu 37 7 100816680 100816680 + Missense_Mutation SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:100816680T>A uc003uxy.1 - 3 673 c.434A>T c.(433-435)CAG>CTG p.Q145L C7orf52_uc003uxz.1_Missense_Mutation_p.Q145L NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 145 N-acetyltransferase. N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) CTTGACCAGCTGCGAGCAGAA 0.701 NA 13 39 0 0 0.00499 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518009 113518009 + Silent SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:113518009A>G uc010ljy.1 - 4 3169 c.3138T>C c.(3136-3138)TCT>TCC p.S1046S NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 1046 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CAGAGCTGTCAGATTCCTTTT 0.378 NA 8 391 0 0 0.004482 0 0 FLNC 2318 broad.mit.edu 37 7 128496821 128496821 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:128496821C>G uc003vnz.3 + 45 7616 c.7407C>G c.(7405-7407)ATC>ATG p.I2469M FLNC_uc003voa.3_Missense_Mutation_p.I2436M NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2469 Filamin 22.|Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TCCGCTTCATCCCCCACGAGA 0.602 NA 27 41 0 0 0.008361 0 0 C7orf34 135927 broad.mit.edu 37 7 142636692 142636692 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:142636692G>A uc003wca.2 + 1 90 c.49G>A c.(49-51)GGC>AGC p.G17S NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 Error:Variant_position_missing_in_Q96L11_after_alignment extracellular region 0 Melanoma(164;0.059) AGCAGGGGGCGGCCAAAGGCA 0.647 NA 17 45 0 0 0.002299 0 0 RHEB 6009 broad.mit.edu 37 7 151188085 151188085 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr7:151188085G>A uc003wkh.1 - 2 481 c.68C>T c.(67-69)ACG>ATG p.T23M NM_005614 NP_005605 Q15382 RHEB_HUMAN Ras homolog enriched in brain precursor 23 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding large_intestine(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) AAATTGAATCGTCAATGAGGA 0.318 Pancreas(98;671 892 8111 15140 36556 39178 39939 44184) NA 9 83 0 0 0.006214 0 0 CSMD1 64478 broad.mit.edu 37 8 3072116 3072116 + Nonsense_Mutation SNP A A T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:3072116A>T uc011kwk.1 - 30 5163 c.4773T>A c.(4771-4773)TGT>TGA p.C1591* CSMD1_uc011kwj.1_Nonsense_Mutation_p.C983*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.C747* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1591 Extracellular (Potential).|Sushi 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCCAGAGTCACACTGGTAGG 0.507 NA 3 2 0 0 0.004672 0 0 DEFA6 1671 broad.mit.edu 37 8 6783434 6783434 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:6783434G>T uc003wqt.2 - 1 165 c.124C>A c.(124-126)CGT>AGT p.R42S NM_001926 NP_001917 Q01524 DEF6_HUMAN defensin, alpha 6 preproprotein 42 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TTTGCCCCACGCTGCTCCTGG 0.527 NA 8 47 1.12685e-05 1.33521e-05 0.004482 1 0 FAM167A 83648 broad.mit.edu 37 8 11301689 11301689 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:11301689C>A uc010lry.1 - 2 852 c.232G>T c.(232-234)GGG>TGG p.G78W FAM167A_uc003wtw.2_Missense_Mutation_p.G78W NM_053279 NP_444509 Q96KS9 F167A_HUMAN hypothetical protein LOC83648 78 0 GGCTCCTGCCCCCCACGCTCC 0.692 NA 8 37 0.00010058 0.000114015 0.001368 1 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729987 37729987 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:37729987C>A uc003xkm.1 - 4 2377 c.2333G>T c.(2332-2334)GGA>GTA p.G778V RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.G107V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.G107V|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 778 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GACTGATGCTCCCATGGGAAG 0.547 NA 14 113 3.27435e-08 4.11259e-08 0.00245 1 0 PRKDC 5591 broad.mit.edu 37 8 48690420 48690420 + Nonsense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:48690420C>A uc003xqi.2 - 85 11926 c.11869G>T c.(11869-11871)GAG>TAG p.E3957* PRKDC_uc003xqj.2_Nonsense_Mutation_p.E3926*|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3957 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGCATCAACTCAGGGACTGGC 0.458 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 20 66 2.94398e-08 3.72746e-08 0.007413 1 0 PRKDC 5591 broad.mit.edu 37 8 48762047 48762047 + Silent SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:48762047C>G uc003xqi.2 - 54 7080 c.7023G>C c.(7021-7023)CTG>CTC p.L2341L PRKDC_uc003xqj.2_Silent_p.L2341L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2341 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCAGTTCACACAGAGACTCCT 0.358 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 10 98 0 0 0.008291 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733224 52733224 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:52733224G>A uc003xqx.3 - 6 1102 c.761C>T c.(760-762)ACA>ATA p.T254I PCMTD1_uc011ldm.1_Missense_Mutation_p.T124I|PCMTD1_uc003xqw.3_Missense_Mutation_p.T254I|PCMTD1_uc011ldn.1_Missense_Mutation_p.T66I|PCMTD1_uc010lya.2_Missense_Mutation_p.T178I NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 254 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) ATTTCTAAGTGTGCGTCGAAT 0.378 NA 5 179 0 0 0.000602 0 0 ST18 9705 broad.mit.edu 37 8 53028861 53028861 + Missense_Mutation SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:53028861G>A uc003xqz.2 - 20 3133 c.2977C>T c.(2977-2979)CTT>TTT p.L993F ST18_uc011ldq.1_Missense_Mutation_p.L640F|ST18_uc011ldr.1_Missense_Mutation_p.L958F|ST18_uc011lds.1_Missense_Mutation_p.L898F|ST18_uc003xra.2_Missense_Mutation_p.L993F NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 993 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ATGTCAGCAAGGCTTGAAATG 0.458 NA 36 177 0 0 0.003271 0 0 VPS13B 157680 broad.mit.edu 37 8 100844746 100844746 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:100844746G>T uc003yiv.2 + 52 9666 c.9555G>T c.(9553-9555)ATG>ATT p.M3185I VPS13B_uc003yiw.2_Missense_Mutation_p.M3160I NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3185 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) AACAGATCATGCTGGGCTTTT 0.542 Colon(161;2205 2542 7338 31318) NA 7 73 8.12818e-05 9.24728e-05 0.001984 1 0 RIMS2 9699 broad.mit.edu 37 8 104897845 104897845 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:104897845G>T uc003yls.2 + 2 593 c.352G>T c.(352-354)GCC>TCC p.A118S RIMS2_uc003ylp.2_Missense_Mutation_p.A340S|RIMS2_uc003ylw.2_Missense_Mutation_p.A148S|RIMS2_uc003ylq.2_Missense_Mutation_p.A148S|RIMS2_uc003ylr.2_Missense_Mutation_p.A148S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 371 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCCGAATTTGGCCCGTTATCC 0.458 NA HNSCC(12;0.0054) 22 30 6.44725e-10 8.47045e-10 0.002299 1 0 ANGPT1 284 broad.mit.edu 37 8 108264187 108264187 + Missense_Mutation SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:108264187C>G uc003ymn.2 - 9 1861 c.1393G>C c.(1393-1395)GGA>CGA p.G465R ANGPT1_uc011lhv.1_Missense_Mutation_p.G265R|ANGPT1_uc003ymo.2_Missense_Mutation_p.G464R NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 465 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TGGTTTTGTCCCGCAGTATAG 0.408 NA 53 300 0 0 0.00361 0 0 ADCY8 114 broad.mit.edu 37 8 131916288 131916288 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:131916288C>T uc003ytd.3 - 7 1897 c.1641G>A c.(1639-1641)GGG>GGA p.G547G ADCY8_uc010mds.2_Silent_p.G547G NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 547 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGTGAATCCTCCTGTGTGTAG 0.458 NA HNSCC(32;0.087) 78 213 0 0 0.00361 0 0 WISP1 8840 broad.mit.edu 37 8 134232987 134232987 + Silent SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr8:134232987G>T uc003yub.2 + 3 589 c.513G>T c.(511-513)CGG>CGT p.R171R WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 171 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCCACCCGCGGCGCGTGAGCA 0.667 NA 18 64 1.2644e-06 1.53885e-06 0.010504 1 0 DMRT1 1761 broad.mit.edu 37 9 893993 893993 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:893993C>A uc003zgv.2 + 3 769 c.620C>A c.(619-621)TCC>TAC p.S207Y DMRT1_uc003zgu.1_Missense_Mutation_p.S207Y NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 207 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) GTTTCAGACTCCACCTACTAC 0.488 NA OREG0019071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 85 5.73435e-26 9.52691e-26 0.00361 1 0 PTPRD 5789 broad.mit.edu 37 9 8492918 8492918 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:8492918G>T uc003zkk.2 - 26 3122 c.2411C>A c.(2410-2412)ACA>AAA p.T804K PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T795K|PTPRD_uc003zkm.2_Missense_Mutation_p.T791K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 804 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCCTTTGGTTGTGTAGGCTGT 0.468 NA TSP Lung(15;0.13) 16 191 2.4624e-09 3.20827e-09 0.008871 1 0 FREM1 158326 broad.mit.edu 37 9 14746969 14746969 + Silent SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:14746969C>A uc003zlm.2 - 34 6680 c.6090G>T c.(6088-6090)CTG>CTT p.L2030L FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Silent_p.L566L NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 2030 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TGCACTGATACAGCTTCTGGA 0.493 NA 10 36 1.58986e-06 1.92007e-06 0.008291 1 0 IFNA4 3441 broad.mit.edu 37 9 21187444 21187444 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:21187444G>A uc003zon.2 - 1 155 c.87C>T c.(85-87)ACC>ACT p.T29T NM_021068 NP_066546 P05014 IFNA4_HUMAN interferon, alpha 4 precursor 29 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCAGGCTGTGGGTCTGAGGCA 0.512 NSCLC(154;890 1986 23660 27800 51138) NA 5 118 0 0 0.000602 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701601 23701601 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:23701601G>A uc003zpu.2 - 5 764 c.489C>T c.(487-489)GGC>GGT p.G163G ELAVL2_uc003zps.2_Silent_p.G163G|ELAVL2_uc003zpt.2_Silent_p.G163G|ELAVL2_uc003zpv.2_Silent_p.G163G|ELAVL2_uc003zpw.2_Silent_p.G163G NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 163 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CCCTTGATATGCCTATGGTAG 0.438 NA 36 152 0 0 0.007835 0 0 C9orf131 138724 broad.mit.edu 37 9 35045097 35045097 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:35045097G>T uc003zvw.2 + 2 2500 c.2471G>T c.(2470-2472)GGA>GTA p.G824V C9orf131_uc003zvu.2_Missense_Mutation_p.G776V|C9orf131_uc003zvv.2_Missense_Mutation_p.G751V|C9orf131_uc003zvx.2_Missense_Mutation_p.G789V NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 824 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GACTTCTGGGGACTCCCTTCC 0.552 NA 169 680 2.53601e-94 4.57648e-94 0.00361 1 0 PRUNE2 158471 broad.mit.edu 37 9 79267519 79267519 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:79267519C>A uc010mpk.2 - 11 8561 c.8437G>T c.(8437-8439)GAC>TAC p.D2813Y PRUNE2_uc011lsk.1_Missense_Mutation_p.D62Y|PRUNE2_uc011lsl.1_Missense_Mutation_p.D77Y|PRUNE2_uc011lsm.1_Missense_Mutation_p.D77Y|PRUNE2_uc004akj.3_Missense_Mutation_p.D266Y|PRUNE2_uc010mpl.1_Missense_Mutation_p.D266Y NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2813 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TCACTTTGGTCCAGAGAAAGA 0.413 NA 26 219 1.1804e-14 1.69244e-14 0.003954 1 0 TLR4 7099 broad.mit.edu 37 9 120476416 120476416 + Silent SNP T T A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:120476416T>A uc004bjz.2 + 3 2301 c.2010T>A c.(2008-2010)GGT>GGA p.G670G TLR4_uc004bka.2_Silent_p.G630G|TLR4_uc004bkb.2_Silent_p.G470G NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 670 Cytoplasmic (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ATGGTAGAGGTGAAAACATCT 0.428 NA 10 68 0 0 0.008291 0 0 TLR4 7099 broad.mit.edu 37 9 120476829 120476830 + Missense_Mutation DNP GG GG TT TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:120476829_120476830GG>TT uc004bjz.2 + 3 2714_2715 c.2423_2424GG>TT c.(2422-2424)TGG>TTT p.W808F TLR4_uc004bka.2_Missense_Mutation_p.W768F|TLR4_uc004bkb.2_Missense_Mutation_p.W608F NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 808 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CACATCTTCTGGAGACGACTCA 0.54 NA 15 155 0 0 0.004672 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123177335 123177335 + Missense_Mutation SNP C C A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:123177335C>A uc004bkf.2 - 28 4461 c.4280G>T c.(4279-4281)GGA>GTA p.G1427V CDK5RAP2_uc010mvi.2_Missense_Mutation_p.G436V|CDK5RAP2_uc004bke.2_Missense_Mutation_p.G712V|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.G1427V|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.G692V|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.G692V|CDK5RAP2_uc011lya.1_Missense_Mutation_p.G692V|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.G1197V|CDK5RAP2_uc004bki.2_Missense_Mutation_p.G1194V NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1427 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 AAATTCAGATCCTTGCCGTTC 0.408 NA 21 147 1.87028e-06 2.25007e-06 0.001882 1 0 KIAA0649 9858 broad.mit.edu 37 9 138376778 138376778 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr9:138376778T>C uc004cfr.1 + 4 971 c.422T>C c.(421-423)CTG>CCG p.L141P NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 141 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CAGGAGTACCTGAAGGCAAAG 0.627 NA 9 74 0 0 0.001855 0 0 OFD1 8481 broad.mit.edu 37 X 13753440 13753440 + Missense_Mutation SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chrX:13753440A>G uc004cvp.3 + 2 445 c.86A>G c.(85-87)GAT>GGT p.D29G OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.D28G|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.D28G|OFD1_uc004cvv.3_Missense_Mutation_p.D28G|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 29 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 ACGTTTAAGGATCGGGGTATA 0.403 NA 40 34 0 0 0.003214 0 0 YY2 404281 broad.mit.edu 37 X 21875364 21875364 + Silent SNP C C G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chrX:21875364C>G uc011mjp.1 + 1 762 c.762C>G c.(760-762)GTC>GTG p.V254V MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.V472V|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 254 Mediates transcriptional repression.|C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 CCAAAACAGTCCCTTGCTCTT 0.502 NA 80 72 0 0 0.00361 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685797 125685797 + Silent SNP C C T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chrX:125685797C>T uc004eul.2 - 1 1046 c.795G>A c.(793-795)GTG>GTA p.V265V NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 265 WD 3. skin(3)|ovary(1) 4 CCAGGGCCCGCACCTTGCGGT 0.647 NA 18 13 0 0 0.001882 0 0 ELF4 2000 broad.mit.edu 37 X 129206319 129206319 + Silent SNP G G A TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chrX:129206319G>A uc004evd.3 - 5 799 c.414C>T c.(412-414)GCC>GCT p.A138A ELF4_uc004eve.3_Silent_p.A138A NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 138 RUNX1-binding. natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CGGGCTCAGAGGCAGGAAACA 0.577 NA T ERG AML 25 73 0 0 0.005443 0 0 IDS 3423 broad.mit.edu 37 X 148577945 148577945 + Missense_Mutation SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chrX:148577945T>C uc011mxe.1 - 6 1009 c.811A>G c.(811-813)AGG>GGG p.R271G IDS_uc011mxf.1_Missense_Mutation_p.R181G|IDS_uc011mxg.1_Missense_Mutation_p.R60G|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.R60G|IDS_uc011mxh.1_Missense_Mutation_p.R271G|IDS_uc011mxi.1_RNA NM_000202 NP_000193 P22304 IDS_HUMAN iduronate-2-sulfatase isoform a precursor 271 lysosome iduronate-2-sulfatase activity|metal ion binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCCGTTGCCTGATGTCCATC 0.527 NA 4 167 0 0 0.000602 0 0 CYP4B1 1580 broad.mit.edu 37 1 47284377 47284378 + Frame_Shift_Del DEL TC TC - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:47284377_47284378delTC uc001cqm.3 + 12 1511_1512 c.1427_1428delTC c.(1426-1428)TTCfs p.F476fs CYP4B1_uc001cqn.3_Frame_Shift_Del_p.F477fs|CYP4B1_uc009vym.2_Frame_Shift_Del_p.F462fs|CYP4B1_uc010omk.1_Frame_Shift_Del_p.F313fs NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 476 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CGCTTTGAGTTCTCTCTGGACC 0.564 NA 27 184 --- --- --- --- NA NA NA NA NA COG2 22796 broad.mit.edu 37 1 230804530 230804530 + Frame_Shift_Del DEL G G - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr1:230804530delG uc001htw.2 + 6 745 c.594delG c.(592-594)CCGfs p.P198fs COG2_uc001htx.2_Frame_Shift_Del_p.P198fs|COG2_uc010pwc.1_Frame_Shift_Del_p.P71fs NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 198 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AAGTAAGACCGGTAAGTGTTG 0.368 NA 38 212 --- --- --- --- NA NA NA NA NA FAM123A 219287 broad.mit.edu 37 13 25744101 25744101 + Frame_Shift_Del DEL C C - rs147191374 TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr13:25744101delC uc001uqb.2 - 1 1757 c.1657delG c.(1657-1659)GACfs p.D553fs FAM123A_uc001uqa.2_Frame_Shift_Del_p.D434fs|FAM123A_uc001uqc.2_Frame_Shift_Del_p.D434fs NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 553 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TAGAGCGCGTCCCCGCTGTAG 0.637 NA 34 62 --- --- --- --- NA NA NA NA NA ZFYVE26 23503 broad.mit.edu 37 14 68250146 68250146 + Frame_Shift_Del DEL C C - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr14:68250146delC uc001xka.2 - 21 3862 c.3723delG c.(3721-3723)CGGfs p.R1241fs ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Frame_Shift_Del_p.R1241fs NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1241 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCTGGCTTTGCCGGGATGAGC 0.597 NA 43 170 --- --- --- --- NA NA NA NA NA SBNO2 22904 broad.mit.edu 37 19 1123583 1123597 + In_Frame_Del DEL GCCTCCTCCTCCTCA GCCTCCTCCTCCTCA - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 GCCTCCTCCTCCTCA GCCTCCTCCTCCTCA - - GCCTCCTCCTCCTCA GCCTCCTCCTCCTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr19:1123583_1123597delGCCTCCTCCTCCTCA uc002lrk.3 - 7 802_816 c.564_578delTGAGGAGGAGGAGGC c.(562-579)GCTGAGGAGGAGGAGGCG>GCG p.188_193AEEEEA>A SBNO2_uc002lrj.3_In_Frame_Del_p.131_136AEEEEA>A|SBNO2_uc010dse.2_In_Frame_Del_p.181_186AEEEEA>A|SBNO2_uc010xgj.1_In_Frame_Del_p.131_136AEEEEA>A|SBNO2_uc010dsf.2_In_Frame_Del_p.131_136AEEEEA>A NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 188_193 Poly-Glu. macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGctcctccgcctcctcctcctcagcctcgtcct 0.549 NA 12 24 --- --- --- --- NA NA NA NA NA SIRPB1 10326 broad.mit.edu 37 20 1559269 1559269 + Frame_Shift_Del DEL C C - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr20:1559269delC uc010gai.2 - 2 247 c.148delG c.(148-150)GCCfs p.A50fs SIRPB1_uc002wfk.3_Frame_Shift_Del_p.A50fs NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 50 Extracellular (Potential).|Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 CGCAGAGTGGCCGACTCTCCA 0.532 NA 34 126 --- --- --- --- NA NA NA NA NA KLHL18 23276 broad.mit.edu 37 3 47374692 47374692 + Frame_Shift_Del DEL A A - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:47374692delA uc003crd.2 + 5 772 c.646delA c.(646-648)AGGfs p.R216fs KLHL18_uc003crc.2_Frame_Shift_Del_p.R216fs|KLHL18_uc011bav.1_Frame_Shift_Del_p.R104fs|KLHL18_uc010hjq.1_Frame_Shift_Del_p.R67fs NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 216 BACK. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CCGGGAGCAGAGGGGTCCCTA 0.592 NA 32 78 --- --- --- --- NA NA NA NA NA HES1 3280 broad.mit.edu 37 3 193855908 193855908 + Frame_Shift_Del DEL T T - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr3:193855908delT uc003ftq.1 + 4 965 c.729delT c.(727-729)CCTfs p.P243fs NM_005524 NP_005515 Q14469 HES1_HUMAN hairy and enhancer of split 1 243 Pro-rich. endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1) 2 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) ACAGCGGCCCTGTCATCCCCG 0.652 NA 18 37 --- --- --- --- NA NA NA NA NA C4orf35 85438 broad.mit.edu 37 4 71200872 71200872 + Frame_Shift_Del DEL C C - TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr4:71200872delC uc003hff.2 + 1 202 c.116delC c.(115-117)ACAfs p.T39fs NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 39 flagellum calcium ion binding 0 all_hematologic(202;0.196) AAATCAGAAACAACTATTACT 0.378 NA 31 122 --- --- --- --- NA NA NA NA NA IQGAP2 10788 broad.mit.edu 37 5 75993856 75993857 + Frame_Shift_Ins INS - - T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 13989aec-b1a3-47c2-bc8e-ccf55f8e0c11 92d579df-9e7a-4898-8d31-7f6702e1da76 g.chr5:75993856_75993857insT uc003kek.2 + 33 4473_4474 c.4251_4252insT c.(4249-4254)GAATTGfs p.E1417fs IQGAP2_uc011csv.1_Frame_Shift_Ins_p.E913fs|IQGAP2_uc003kel.2_Frame_Shift_Ins_p.E913fs|IQGAP2_uc010izw.1_Frame_Shift_Ins_p.E118fs NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1417_1418 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAAAAGCTGAATTGGCAAAACT 0.337 NA 8 55 --- --- --- --- NA NA NA NA NA