Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample AGRN 375790 broad.mit.edu 37 1 957838 957838 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:957838G>A uc001ack.1 + 2 509 c.459G>A c.(457-459)GTG>GTA p.V153V NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 153 NtA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) AGTTCTGTGTGGAAGGTGCGT 0.657 NaN 0 0 0 0.014323 0 23 30 DFFB 1677 broad.mit.edu 37 1 3800260 3800260 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:3800260C>T uc001alc.2 + 7 1295 c.972C>T c.(970-972)CCC>CCT p.P324P DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.P348P|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Silent_p.P275P|DFFB_uc001ald.2_Silent_p.P260P NM_004402 NP_004393 O76075 DFFB_HUMAN DNA fragmentation factor, 40 kD, beta 324 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) TCTACAAACCCCAGACAAGGT 0.498 NaN 0 0 0 0.027356 0 28 65 LOC440563 440563 broad.mit.edu 37 1 13183388 13183388 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:13183388G>C uc010obg.1 - 1 580 c.485C>G c.(484-486)TCT>TGT p.S162C NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 162 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 TCCACTCTTAGAATTGAAGCC 0.502 NaN 0 0 0 0.01441 0 79 496 EIF4G3 8672 broad.mit.edu 37 1 21226289 21226289 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:21226289G>A uc001bec.2 - 11 1988 c.1732C>T c.(1732-1734)CGT>TGT p.R578C EIF4G3_uc010odi.1_Missense_Mutation_p.R182C|EIF4G3_uc010odj.1_Missense_Mutation_p.R577C|EIF4G3_uc009vpz.2_Missense_Mutation_p.R298C|EIF4G3_uc001bed.2_Missense_Mutation_p.R578C|EIF4G3_uc001bef.2_Missense_Mutation_p.R577C|EIF4G3_uc001bee.2_Missense_Mutation_p.R584C NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 578 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GCACCATTACGTACTGGCTCA 0.438 NaN 0 0 0 0.020292 0 15 271 PUM1 9698 broad.mit.edu 37 1 31478834 31478834 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:31478834G>C uc001bsi.1 - 5 699 c.586C>G c.(586-588)CAG>GAG p.Q196E PUM1_uc001bsg.1_Missense_Mutation_p.Q8E|PUM1_uc001bsh.1_Missense_Mutation_p.Q196E|PUM1_uc001bsj.1_Missense_Mutation_p.Q196E|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.Q232E|PUM1_uc010ogb.1_Intron NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 196 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGGAAACTCTGACCAGGTCTT 0.468 NaN 0 0 0 0.006214 0 10 36 GJA9 81025 broad.mit.edu 37 1 39341511 39341511 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:39341511G>A uc001cct.1 - 2 541 c.260C>T c.(259-261)TCA>TTA p.S87L RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 87 Helical; (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CAGGGATGGTGAAGACACAAA 0.473 NaN 0 0 0 0.01441 0 45 114 MAGOH 4116 broad.mit.edu 37 1 53699276 53699276 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:53699276C>T uc001cvf.1 - 3 284 c.196G>A c.(196-198)GAC>AAC p.D66N MAGOH_uc010ont.1_Intron NM_002370 NP_002361 P61326 MGN_HUMAN mago-nashi homolog 66 DSE->RSR: Slightly reduced nonsense- mediated decay activity. mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding 0 ATTTCACTGTCGTCAATTATT 0.408 NaN 0 0 0 0.01441 0 47 103 CACHD1 57685 broad.mit.edu 37 1 65145288 65145288 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:65145288G>A uc001dbo.1 + 24 3207 c.3102G>A c.(3100-3102)GTG>GTA p.V1034V CACHD1_uc001dbp.1_Silent_p.V789V|CACHD1_uc001dbq.1_Silent_p.V789V|CACHD1_uc010opa.1_Silent_p.V278V NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 1085 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 GTGATGAGGTGATCACATTAA 0.493 NaN 0 0 0 0.009535 0 31 64 LRRC7 57554 broad.mit.edu 37 1 70488897 70488897 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:70488897G>A uc001dep.2 + 15 1550 c.1520G>A c.(1519-1521)TGG>TAG p.W507* LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 507 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TGCACACCATGGGCCAGGTGT 0.587 NaN 0 0 0 0.012319 0 20 34 ZZZ3 26009 broad.mit.edu 37 1 78045314 78045314 + Splice_Site SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:78045314C>G uc001dhq.2 - 10 2457 c.1981_splice c.e10-1 p.K661_splice ZZZ3_uc001dhr.2_Splice_Site_p.K167_splice|ZZZ3_uc001dhp.2_Splice_Site_p.K660_splice NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 CCAGCTTTTTCTAAGCCATAC 0.323 NaN 0 0 0 0.025465 0 37 70 PRMT6 55170 broad.mit.edu 37 1 107599800 107599800 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:107599800G>C uc010ous.1 + 1 534 c.463G>C c.(463-465)GAG>CAG p.E155Q NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 155 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) CATCGTGAGCGAGTGGATGGG 0.652 NaN 0 0 0 0.024334 0 23 49 KCNA10 3744 broad.mit.edu 37 1 111060995 111060995 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:111060995C>G uc001dzt.1 - 1 803 c.415G>C c.(415-417)GAT>CAT p.D139H NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 139 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AGGATTCCATCAAAACTGGGC 0.453 NaN 0 0 0 0.008361 0 31 64 RSBN1 54665 broad.mit.edu 37 1 114310974 114310974 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:114310974G>C uc001edq.2 - 5 1732 c.1696C>G c.(1696-1698)CGG>GGG p.R566G RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 566 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCACTGGTCCGAGGTAGGTAC 0.428 NaN 0 0 0 0.020292 0 12 63 TTF2 8458 broad.mit.edu 37 1 117633211 117633211 + Nonsense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:117633211G>T uc001egy.2 + 15 2574 c.2554G>T c.(2554-2556)GAG>TAG p.E852* NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 852 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) TGAAGATGAAGAGACTGTTTA 0.368 NaN 1 0 4.35082e-09 0.010504 4.66417e-09 17 51 RPRD2 23248 broad.mit.edu 37 1 150443792 150443792 + Nonsense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:150443792C>T uc009wlr.2 + 11 2569 c.2368C>T c.(2368-2370)CGA>TGA p.R790* RPRD2_uc010pcc.1_Nonsense_Mutation_p.R764*|RPRD2_uc001eup.3_Nonsense_Mutation_p.R764* NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 790 Ser-rich. protein binding ovary(1) 1 ATCTACATATCGACCCTTTGG 0.507 NaN 0 0 0 0.028581 0 17 40 ASH1L 55870 broad.mit.edu 37 1 155491121 155491121 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:155491121C>T uc009wqq.2 - 2 670 c.190G>A c.(190-192)GAT>AAT p.D64N ASH1L_uc001fkt.2_Missense_Mutation_p.D64N|ASH1L_uc009wqr.1_Missense_Mutation_p.D64N NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 64 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GTCAAACCATCATCTTTCCCA 0.393 NaN 0 0 0 0.01441 0 188 399 NES 10763 broad.mit.edu 37 1 156641159 156641159 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:156641159C>T uc001fpq.2 - 4 2954 c.2821G>A c.(2821-2823)GAG>AAG p.E941K NM_006617 NP_006608 P48681 NEST_HUMAN nestin 941 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCGGCAGCTCCTGTCCCTCC 0.547 NaN 0 0 0 0.01441 0 105 185 CD1D 912 broad.mit.edu 37 1 158151886 158151886 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:158151886C>G uc001frr.2 + 4 892 c.393C>G c.(391-393)TTC>TTG p.F131L CD1D_uc009wsr.1_Missense_Mutation_p.F131L|CD1D_uc009wss.2_Missense_Mutation_p.F131L|CD1D_uc009wst.1_Missense_Mutation_p.F27L NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 131 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CAAATAACTTCTTCCATGTAG 0.498 NaN 0 0 0 0.01441 0 104 223 POU2F1 5451 broad.mit.edu 37 1 167381395 167381395 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:167381395G>A uc001gec.2 + 15 1848 c.1686G>A c.(1684-1686)GTG>GTA p.V562V POU2F1_uc001ged.2_Silent_p.V560V|POU2F1_uc001gee.2_Silent_p.V562V|POU2F1_uc010plh.1_Silent_p.V499V|POU2F1_uc001gef.2_Silent_p.V574V|POU2F1_uc001geg.2_Silent_p.V460V|POU2F1_uc009wvg.1_RNA NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 562 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 CCAGCCAGGTGATGGTGACAG 0.592 NaN 0 0 0 0.013537 0 11 32 ASTN1 460 broad.mit.edu 37 1 176903363 176903364 + Missense_Mutation DNP CC CC TT TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:176903363_176903364CC>TT uc001glc.2 - 16 2807_2808 c.2595_2596GG>AA c.(2593-2598)GAGGAG>GAAAAG p.E866K ASTN1_uc001glb.1_Missense_Mutation_p.E866K|ASTN1_uc001gld.1_Missense_Mutation_p.E866K NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 874 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GAACAGGACTCCTCAAAGCCGT 0.52 NaN 0 0 0 0.004672 0 9 61 NCF2 4688 broad.mit.edu 37 1 183542321 183542321 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:183542321G>A uc001gqj.3 - 5 883 c.608C>T c.(607-609)ACG>ATG p.T203M NCF2_uc010pod.1_Missense_Mutation_p.T158M|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.T203M NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 203 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 CCCACCTACCGTCGCCTTGCC 0.572 NaN 0 0 0 0.01441 0 90 130 C1orf26 54823 broad.mit.edu 37 1 185144079 185144079 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:185144079G>C uc001grg.3 + 5 914 c.800G>C c.(799-801)AGA>ACA p.R267T C1orf26_uc001grh.3_Missense_Mutation_p.R267T NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 267 0 CAGGAAGAAAGAGAATACCTG 0.368 NaN 0 0 0 0.01441 0 54 88 CRB1 23418 broad.mit.edu 37 1 197390429 197390429 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:197390429G>A uc001gtz.2 + 6 1606 c.1471G>A c.(1471-1473)GAT>AAT p.D491N CRB1_uc010poz.1_Missense_Mutation_p.D422N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.D379N|CRB1_uc010ppb.1_Missense_Mutation_p.D491N|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.D140N NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 491 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ATTTGAGGGCGATGGCTTCCT 0.517 NaN 0 0 0 0.010818 0 31 47 C1orf107 27042 broad.mit.edu 37 1 210006542 210006542 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:210006542C>T uc001hhr.1 + 4 477 c.401C>T c.(400-402)TCT>TTT p.S134F C1orf107_uc009xcu.1_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 134 Glu-rich. multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) GTAGCTTTATCTGCTGACCCT 0.398 NaN 0 0 0 0.016522 0 24 40 ESRRG 2104 broad.mit.edu 37 1 216850784 216850784 + Missense_Mutation SNP A A G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:216850784A>G uc001hkw.1 - 2 272 c.106T>C c.(106-108)TCG>CCG p.S36P ESRRG_uc001hky.1_Missense_Mutation_p.S13P|ESRRG_uc009xdp.1_Missense_Mutation_p.S13P|ESRRG_uc001hkz.1_Missense_Mutation_p.S13P|ESRRG_uc010puc.1_Missense_Mutation_p.S13P|ESRRG_uc001hla.1_Missense_Mutation_p.S13P|ESRRG_uc001hlb.1_Missense_Mutation_p.S13P|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S13P|ESRRG_uc001hld.1_Missense_Mutation_p.S13P|ESRRG_uc001hkx.1_Missense_Mutation_p.S41P|ESRRG_uc009xdo.1_Missense_Mutation_p.S13P|ESRRG_uc001hle.1_Missense_Mutation_p.S13P NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 36 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ATGAAGGACGAACAGCTGGAA 0.438 NaN 0 0 0 0.007291 0 29 32 MARK1 4139 broad.mit.edu 37 1 220825393 220825393 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:220825393C>T uc001hmn.3 + 15 2234 c.1637C>T c.(1636-1638)TCA>TTA p.S546L MARK1_uc009xdw.2_Missense_Mutation_p.S546L|MARK1_uc010pun.1_Missense_Mutation_p.S546L|MARK1_uc001hmm.3_Missense_Mutation_p.S524L NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 546 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) GCTGTCCCCTCAGCACGACCC 0.517 NaN 0 0 0 0.017118 0 34 66 RYR2 6262 broad.mit.edu 37 1 237875065 237875065 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:237875065G>C uc001hyl.1 + 71 10371 c.10251G>C c.(10249-10251)CAG>CAC p.Q3417H RYR2_uc010pxz.1_Missense_Mutation_p.Q372H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3417 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGAAGAGCAGAACTTCGTTG 0.328 NaN 0 0 0 0.004672 0 3 26 RGS7 6000 broad.mit.edu 37 1 240990424 240990424 + Missense_Mutation SNP T T A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:240990424T>A uc001hyv.2 - 10 988 c.658A>T c.(658-660)ATG>TTG p.M220L RGS7_uc010pyh.1_Missense_Mutation_p.M194L|RGS7_uc010pyj.1_Missense_Mutation_p.M136L|RGS7_uc001hyu.2_Missense_Mutation_p.M220L|RGS7_uc009xgn.1_Missense_Mutation_p.M167L|RGS7_uc001hyw.2_Missense_Mutation_p.M220L|RGS7_uc001hyt.2_Missense_Mutation_p.M52L NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 220 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GGGTTTCTCATTCTGGATGAC 0.403 NaN 0 0 0 0.014323 0 21 49 PLD5 200150 broad.mit.edu 37 1 242428713 242428713 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:242428713G>A uc001hzn.1 - 4 660 c.533C>T c.(532-534)TCG>TTG p.S178L PLD5_uc001hzl.3_Missense_Mutation_p.S116L|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.S86L Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 178 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AATATTTTGCGAAGTCAGCTG 0.358 NaN 0 0 0 0.010504 0 19 43 ZNF124 7678 broad.mit.edu 37 1 247323048 247323048 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:247323048G>A uc001ick.2 - 2 237 c.98C>T c.(97-99)TCC>TTC p.S33F ZNF124_uc001ici.2_RNA|ZNF124_uc001icj.1_Missense_Mutation_p.S33F NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) ATTCTTCTGGGAAGGATCCAA 0.423 NaN 0 0 0 0.012213 0 31 72 ZNF496 84838 broad.mit.edu 37 1 247464253 247464253 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:247464253G>A uc001ico.2 - 9 1797 c.1332C>T c.(1330-1332)TTC>TTT p.F444F ZNF496_uc009xgv.2_Silent_p.F480F|ZNF496_uc001icp.2_Silent_p.F444F NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 444 C2H2-type 2. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CGCTGTCGCTGAACAGCTCCC 0.642 NaN 0 0 0 0.025465 0 40 50 ITIH2 3698 broad.mit.edu 37 10 7785117 7785117 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:7785117G>A uc001ijs.2 + 17 2266 c.2104G>A c.(2104-2106)GAC>AAC p.D702N NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 702 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AGTTGAAAATGACCCACATTT 0.313 NaN 0 0 0 0.01441 0 55 120 FAM107B 83641 broad.mit.edu 37 10 14572359 14572359 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:14572359G>C uc001imx.1 - 2 345 c.100C>G c.(100-102)CAC>GAC p.H34D FAM107B_uc001ina.1_Missense_Mutation_p.H209D|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.H34D|FAM107B_uc001imy.1_Missense_Mutation_p.H34D|FAM107B_uc001imz.1_Missense_Mutation_p.H34D NM_031453 NP_113641 Q9H098 F107B_HUMAN hypothetical protein LOC83641 34 breast(4) 4 AGTTCTCTGTGAAGATCTTGA 0.348 NaN 0 0 0 0.012213 0 34 57 ARHGAP12 94134 broad.mit.edu 37 10 32197217 32197217 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:32197217C>A uc001ivz.1 - 3 837 c.567G>T c.(565-567)GAG>GAT p.E189D ARHGAP12_uc001ivy.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xls.2_Missense_Mutation_p.E187D|ARHGAP12_uc001iwb.1_Missense_Mutation_p.E187D|ARHGAP12_uc001iwc.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xlq.1_Missense_Mutation_p.E187D|ARHGAP12_uc001iwd.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xlr.1_Missense_Mutation_p.E187D NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 189 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) AGCTAGTTTTCTCTACATCCA 0.433 NaN 1 0 1.61788e-16 0.012213 1.77875e-16 31 63 FAM13C 220965 broad.mit.edu 37 10 61022288 61022288 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:61022288G>A uc001jkn.2 - 11 1276 c.1142C>T c.(1141-1143)CCG>CTG p.P381L FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P298L|FAM13C_uc010qie.1_Missense_Mutation_p.P298L|FAM13C_uc010qif.1_Missense_Mutation_p.P403L|FAM13C_uc001jkp.2_Missense_Mutation_p.P298L NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 381 ovary(2) 2 GCTTGGCTCCGGGCCCGCAGC 0.542 NaN 0 0 0 0.00308 0 8 68 PRF1 5551 broad.mit.edu 37 10 72360409 72360409 + Missense_Mutation SNP T T G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:72360409T>G uc009xqg.2 - 2 411 c.250A>C c.(250-252)ACC>CCC p.T84P PRF1_uc001jrf.3_Missense_Mutation_p.T84P NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 84 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CGCTGGAGGGTGCCCTCCTGT 0.662 NaN M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.006214 0 7 23 NRG3 10718 broad.mit.edu 37 10 84738833 84738833 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:84738833G>A uc001kco.2 + 8 1567 c.1540G>A c.(1540-1542)GAA>AAA p.E514K NRG3_uc010qlz.1_Missense_Mutation_p.E513K|NRG3_uc001kcp.2_Missense_Mutation_p.E293K|NRG3_uc001kcq.2_Missense_Mutation_p.E164K|NRG3_uc001kcr.2_Missense_Mutation_p.E164K NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 514 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TCAGCAACTCGAAGAATCAAG 0.493 NaN 0 0 0 0.009096 0 4 33 IFIT3 3437 broad.mit.edu 37 10 91099496 91099496 + Nonsense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:91099496C>T uc001kgf.2 + 2 1313 c.1084C>T c.(1084-1086)CAG>TAG p.Q362* LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Nonsense_Mutation_p.Q362* NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 362 type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 ACAATCCCATCAGCGCTACTG 0.433 NaN 0 0 0 0.027894 0 39 51 CCDC147 159686 broad.mit.edu 37 10 106139898 106139898 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:106139898C>A uc001kyh.2 + 9 1419 c.1285C>A c.(1285-1287)CAG>AAG p.Q429K NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 429 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GGATGAGGCTCAGAAGCAGAG 0.493 NaN 1 0 3.27435e-08 0.020292 3.48125e-08 12 59 TACC2 10579 broad.mit.edu 37 10 123847305 123847305 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:123847305C>T uc001lfv.2 + 4 5650 c.5290C>T c.(5290-5292)CTT>TTT p.L1764F TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.L1764F|TACC2_uc010qtv.1_Missense_Mutation_p.L1764F NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1764 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TACAGCTGCCCTTCATGGGGA 0.647 NaN 0 0 0 0.009096 0 4 8 C10orf120 399814 broad.mit.edu 37 10 124457887 124457887 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:124457887C>G uc001lgn.2 - 3 402 c.370G>C c.(370-372)GAG>CAG p.E124Q NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 124 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) TTTTTATACTCCATTGCTTGT 0.438 NaN 0 0 0 0.01441 0 121 165 FAM175B 23172 broad.mit.edu 37 10 126505169 126505169 + Nonsense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr10:126505169C>G uc001lib.3 + 3 233 c.188C>G c.(187-189)TCA>TGA p.S63* NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 63 MPN-like. BRISC complex polyubiquitin binding 0 CAGCCTTGTTCAAAACTTTTT 0.323 NaN 0 0 0 0.013726 0 31 49 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5664543 5664543 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:5664543G>C uc001mbf.2 + 14 2377 c.2133G>C c.(2131-2133)AAG>AAC p.K711N HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.K357N|TRIM34_uc009yeq.2_Missense_Mutation_p.K112N|TRIM34_uc001mbi.2_Missense_Mutation_p.K357N|TRIM78P_uc009yer.2_Intron NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 711 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) ACGTGTCCAAGAAAACTGCCT 0.408 NaN 0 0 0 0.016522 0 22 12 PDE3B 5140 broad.mit.edu 37 11 14825541 14825541 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:14825541G>A uc001mln.2 + 5 1820 c.1467G>A c.(1465-1467)CCG>CCA p.P489P PDE3B_uc010rcr.1_Silent_p.P438P NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 489 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TGACTATCCCGAAGCAAAGGT 0.353 NaN 0 0 0 0.020292 0 14 20 UEVLD 55293 broad.mit.edu 37 11 18586472 18586472 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:18586472G>A uc001mot.2 - 6 659 c.579C>T c.(577-579)CTC>CTT p.L193L UEVLD_uc001mou.2_Silent_p.L193L|UEVLD_uc010rde.1_Silent_p.L63L|UEVLD_uc010rdf.1_Silent_p.L171L|UEVLD_uc010rdg.1_Silent_p.L63L|UEVLD_uc001mov.2_Silent_p.L171L|UEVLD_uc010rdh.1_Silent_p.L193L NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN ubiquitin-conjugating enzyme E2-like isoform a 193 NAD (By similarity). cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 0 AGGCAATACCGAGTTCTCCAC 0.373 NaN 0 0 0 0.00499 0 17 11 CAT 847 broad.mit.edu 37 11 34492549 34492549 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:34492549C>G uc001mvm.2 + 12 1562 c.1479C>G c.(1477-1479)ATC>ATG p.I493M CAT_uc001mvn.2_Missense_Mutation_p.I102M NM_001752 NP_001743 P04040 CATA_HUMAN catalase 493 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) GGAGCCACATCCAGGCTCTTC 0.507 NaN 0 0 0 0.01441 0 67 57 OR9Q2 219957 broad.mit.edu 37 11 57958523 57958523 + Silent SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:57958523C>G uc010rka.1 + 1 561 c.561C>G c.(559-561)CTC>CTG p.L187L NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) TATTAAAACTCTCCTGTGGGG 0.448 NaN 0 0 0 0.013537 0 12 31 OR5B2 390190 broad.mit.edu 37 11 58189810 58189810 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:58189810G>A uc010rkg.1 - 1 925 c.925C>T c.(925-927)CTA>TTA p.L309L NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAAACTTATAGAAATTTTTGC 0.383 NaN 0 0 0 0.010504 0 21 32 CCDC86 79080 broad.mit.edu 37 11 60609623 60609623 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:60609623G>A uc001nqa.2 + 1 195 c.26G>A c.(25-27)CGA>CAA p.R9Q CCDC86_uc001nqb.2_5'UTR NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 9 interspecies interaction between organisms nucleus 0 AGGCGCAGCCGACGGCTGGGA 0.637 NaN 0 0 0 0.009096 0 3 19 SLC22A10 387775 broad.mit.edu 37 11 63066993 63066993 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:63066993G>A uc009yor.2 + 6 1170 c.962G>A c.(961-963)AGA>AAA p.R321K SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.R161K NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 321 Extracellular (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 AAGGTTGTAAGATCCACCATG 0.423 NaN 0 0 0 0.010729 0 10 22 KLC2 64837 broad.mit.edu 37 11 66030506 66030506 + Silent SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:66030506C>A uc010rov.1 + 5 994 c.751C>A c.(751-753)CGG>AGG p.R251R KLC2_uc010row.1_Silent_p.R251R|KLC2_uc009yra.2_Silent_p.R251R|KLC2_uc001ohb.2_Silent_p.R251R|KLC2_uc010rox.1_Silent_p.R174R|KLC2_uc001ohc.2_Silent_p.R251R|KLC2_uc001ohd.2_Silent_p.R174R|KLC2_uc001ohe.1_Silent_p.R112R NM_001134775 NP_001128247 Q9H0B6 KLC2_HUMAN kinesin light chain 2 isoform 1 251 TPR 2. blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 ACTGGTCTATCGGTGAGGACT 0.602 NaN 1 0 2.7689e-08 0.001984 2.95196e-08 7 21 CD248 57124 broad.mit.edu 37 11 66082600 66082600 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:66082600G>A uc001ohm.1 - 1 1916 c.1899C>T c.(1897-1899)ATC>ATT p.I633I NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 633 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GTGTAGGGCTGATGGGTGAGG 0.632 NaN 0 0 0 0.016522 0 24 42 SYT12 91683 broad.mit.edu 37 11 66816082 66816082 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:66816082G>A uc009yrl.2 + 8 1350 c.1120G>A c.(1120-1122)GAG>AAG p.E374K SYT12_uc001oju.2_Missense_Mutation_p.E374K NM_177963 NP_808878 Q8IV01 SYT12_HUMAN synaptotagmin XII 374 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ovary(1) 1 GACGGTGGCTGAGAGCAGCAG 0.607 NaN 0 0 0 0.010504 0 18 40 KDM2A 22992 broad.mit.edu 37 11 67021049 67021049 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:67021049C>T uc001ojw.2 + 19 3922 c.3058C>T c.(3058-3060)CGG>TGG p.R1020W KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.R714W|KDM2A_uc001ojz.1_Missense_Mutation_p.R478W|KDM2A_uc001oka.2_Missense_Mutation_p.R144W NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 1020 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 CCCTCAAATTCGGGACTTGCT 0.552 NaN 0 0 0 0.01441 0 59 76 NUMA1 4926 broad.mit.edu 37 11 71719867 71719867 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:71719867G>A uc001orl.1 - 20 5255 c.5083C>T c.(5083-5085)CGA>TGA p.R1695* NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1244*|NUMA1_uc001ork.1_Nonsense_Mutation_p.R559*|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1681*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1258* NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1695 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CCCAGGTCTCGAAGCTGCTGG 0.582 NaN T RARA APL 0 0 0 0.028581 0 17 80 NUMA1 4926 broad.mit.edu 37 11 71728852 71728852 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:71728852G>A uc001orl.1 - 13 1172 c.1000C>T c.(1000-1002)CTG>TTG p.L334L NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Silent_p.L334L|NUMA1_uc001orm.1_Silent_p.L334L|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Silent_p.L334L|NUMA1_uc001oro.1_Silent_p.L334L|NUMA1_uc009ysy.1_Silent_p.L334L|NUMA1_uc001orp.2_Silent_p.L334L|NUMA1_uc001orq.2_Silent_p.L334L NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 334 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 AGCTGCTGCAGATGACTGGCA 0.602 NaN T RARA APL 0 0 0 0.028581 0 16 28 MAP6 4135 broad.mit.edu 37 11 75298211 75298211 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:75298211G>C uc001owu.2 - 4 2400 c.2335C>G c.(2335-2337)CTG>GTG p.L779V NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 779 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) TGAGTCTTCAGAGGTTCAGGG 0.532 NaN 0 0 0 0.021022 0 37 55 MYO7A 4647 broad.mit.edu 37 11 76873170 76873170 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:76873170G>C uc001oyb.2 + 13 1620 c.1348G>C c.(1348-1350)GAG>CAG p.E450Q MYO7A_uc010rsl.1_Missense_Mutation_p.E450Q|MYO7A_uc010rsm.1_Missense_Mutation_p.E439Q|MYO7A_uc001oyc.2_Missense_Mutation_p.E450Q NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 450 Myosin head-like. E -> Q (in USH1B). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CTGCAGCTTTGAGCAGCTCTG 0.572 NaN 0 0 0 0.004672 0 3 5 DLG2 1740 broad.mit.edu 37 11 83770465 83770465 + Missense_Mutation SNP G G T rs146925269 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:83770465G>T uc001paj.2 - 6 800 c.497C>A c.(496-498)GCG>GAG p.A166E DLG2_uc001pai.2_Missense_Mutation_p.A115E|DLG2_uc010rsy.1_Missense_Mutation_p.A133E|DLG2_uc010rsz.1_Missense_Mutation_p.A166E|DLG2_uc010rta.1_Missense_Mutation_p.A166E|DLG2_uc001pak.2_Missense_Mutation_p.A271E|DLG2_uc010rtb.1_Missense_Mutation_p.A133E|DLG2_uc001pal.1_Missense_Mutation_p.A166E|DLG2_uc001pam.1_Missense_Mutation_p.A205E NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 166 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GGCTTCCACCGCTTTACTGTG 0.478 NaN 1 0 0.000602214 0.014758 0.000618188 5 43 ZC3H12C 85463 broad.mit.edu 37 11 110035800 110035800 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:110035800C>A uc009yxw.2 + 6 2041 c.1990C>A c.(1990-1992)CAC>AAC p.H664N ZC3H12C_uc010rwc.1_Missense_Mutation_p.H665N|ZC3H12C_uc010rwd.1_Missense_Mutation_p.H665N|ZC3H12C_uc001pkr.3_Missense_Mutation_p.H633N NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 664 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GAAGTGTCAACACATGCACCC 0.522 NaN 1 0 2.08403e-16 0.01441 2.28476e-16 57 57 TREH 11181 broad.mit.edu 37 11 118529682 118529682 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:118529682G>A uc001pty.1 - 13 1522 c.1477C>T c.(1477-1479)CAG>TAG p.Q493* TREH_uc009zaj.1_Nonsense_Mutation_p.Q462*|TREH_uc001ptz.1_Nonsense_Mutation_p.Q370* NM_007180 NP_009111 O43280 TREA_HUMAN trehalase precursor 493 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity pancreas(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) TGAGCCAGCTGGAAAGCCACT 0.577 NaN OREG0021385 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 52 42 SRPR 6734 broad.mit.edu 37 11 126138751 126138751 + Splice_Site SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr11:126138751C>T uc001qdh.2 - 1 1 c.-50_splice c.e1-1 SRPR_uc010sbm.1_Splice_Site|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank|FOXRED1_uc001qdk.2_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) AGGCCGCGTTCGCCGCCGCTT 0.677 NaN 0 0 0 0.006214 0 10 12 C1RL 51279 broad.mit.edu 37 12 7249214 7249214 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:7249214C>T uc001qsn.2 - 6 1254 c.1237G>A c.(1237-1239)GAG>AAG p.E413K C1RL_uc009zft.2_3'UTR NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 413 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity pancreas(1) 1 GAAAACACCTCGGGTCTCTGT 0.552 NaN 0 0 0 0.01441 0 63 130 PLEKHA5 54477 broad.mit.edu 37 12 19407999 19407999 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:19407999C>T uc001reb.2 + 5 418 c.332C>T c.(331-333)TCT>TTT p.S111F PLEKHA5_uc010sie.1_Missense_Mutation_p.S111F|PLEKHA5_uc001rea.2_Missense_Mutation_p.S111F|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_Missense_Mutation_p.S3F|PLEKHA5_uc010sig.1_Missense_Mutation_p.S3F|PLEKHA5_uc010sih.1_Missense_Mutation_p.S3F NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 111 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ACCATGACATCTGAAGAAAAG 0.378 NaN 0 0 0 0.008291 0 10 63 GYS2 2998 broad.mit.edu 37 12 21721862 21721862 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:21721862C>T uc001rfb.2 - 5 1015 c.760G>A c.(760-762)GTG>ATG p.V254M NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 254 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 GTGGTGAACACGTGAGCGCAA 0.428 NaN 0 0 0 0.009535 0 30 53 SYT10 341359 broad.mit.edu 37 12 33532824 33532824 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:33532824C>G uc001rll.1 - 6 1740 c.1443G>C c.(1441-1443)TGG>TGC p.W481C SYT10_uc009zju.1_Missense_Mutation_p.W291C NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 481 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCATTTCATTCCAGTGGTCTC 0.463 NaN 0 0 0 0.00874 0 42 78 OR10AD1 121275 broad.mit.edu 37 12 48596451 48596451 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:48596451G>A uc001rrl.1 - 1 625 c.625C>T c.(625-627)CTC>TTC p.L209F NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGGGGCTGAGAATTACCACG 0.537 NaN 0 0 0 0.016723 0 14 28 KRT74 121391 broad.mit.edu 37 12 52967248 52967248 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:52967248G>A uc001sap.1 - 1 362 c.314C>T c.(313-315)TCT>TTT p.S105F NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 105 Head.|Gly-rich. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) TGGGCACACAGACAAACATGC 0.637 NaN 0 0 0 0.015359 0 35 48 MDM2 4193 broad.mit.edu 37 12 69207366 69207366 + Silent SNP A A G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:69207366A>G uc001sui.2 + 3 419 c.132A>G c.(130-132)TTA>TTG p.L44L MDM2_uc009zri.2_Silent_p.L44L|MDM2_uc009zqx.2_Silent_p.L44L|MDM2_uc009zqw.2_Silent_p.L44L|MDM2_uc001suk.2_Silent_p.L44L|MDM2_uc009zqy.1_Silent_p.L33L|MDM2_uc001sun.3_Silent_p.L33L|MDM2_uc009zqz.2_Silent_p.L38L|MDM2_uc009zra.2_Silent_p.L38L|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Silent_p.L33L|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Silent_p.L33L|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron NM_002392 NP_002383 Q00987 MDM2_HUMAN mouse double minute 2 homolog isoform MDM2 38 Necessary for interaction with USP2.|SWIB. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|central_nervous_system(1) 3 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TGAAGTTATTAAAGTCTGTTG 0.353 NaN A sarcoma|glioma|colorectal|other 0 0 0 0.01441 0 45 80 PTPRB 5787 broad.mit.edu 37 12 70986212 70986212 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:70986212G>A uc001swb.3 - 5 1006 c.976C>T c.(976-978)CAC>TAC p.H326Y PTPRB_uc010sto.1_Missense_Mutation_p.H326Y|PTPRB_uc010stp.1_Missense_Mutation_p.H326Y|PTPRB_uc001swc.3_Missense_Mutation_p.H544Y|PTPRB_uc001swa.3_Missense_Mutation_p.H544Y|PTPRB_uc001swd.3_Missense_Mutation_p.H543Y|PTPRB_uc009zrr.1_Missense_Mutation_p.H423Y|PTPRB_uc001swe.2_Missense_Mutation_p.H544Y NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 326 Fibronectin type-III 4.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTCCCTTTGTGAGACAGGGTG 0.418 NaN 0 0 0 0.021553 0 6 47 RASSF9 9182 broad.mit.edu 37 12 86199359 86199359 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:86199359G>A uc001taf.1 - 2 768 c.429C>T c.(427-429)CTC>CTT p.L143L NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 143 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 TTGCTGGGCTGAGCTCCCACA 0.398 NaN 0 0 0 0.01441 0 88 135 USP44 84101 broad.mit.edu 37 12 95918479 95918479 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:95918479G>C uc001teg.2 - 4 1854 c.1710C>G c.(1708-1710)CTC>CTG p.L570L USP44_uc001teh.2_Silent_p.L570L|USP44_uc009zte.2_Silent_p.L567L NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 570 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 GGTGCAGTCTGAGAACCTGAG 0.403 NaN 0 0 0 0.013726 0 33 35 BTBD11 121551 broad.mit.edu 37 12 108008937 108008937 + Nonsense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:108008937C>T uc001tmk.1 + 7 2520 c.1999C>T c.(1999-2001)CAG>TAG p.Q667* BTBD11_uc009zut.1_Nonsense_Mutation_p.Q667*|BTBD11_uc001tmj.2_Nonsense_Mutation_p.Q667*|BTBD11_uc001tml.1_Nonsense_Mutation_p.Q204* NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 667 ANK 2. integral to membrane DNA binding skin(2)|ovary(1) 3 TCCTGTAGTTCAGGTATTAAC 0.438 NaN 0 0 0 0.00308 0 8 33 SDS 10993 broad.mit.edu 37 12 113830871 113830871 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:113830871C>T uc001tvg.2 - 8 984 c.862G>A c.(862-864)GAG>AAG p.E288K NM_006843 NP_006834 P20132 SDHL_HUMAN serine dehydratase 288 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding pancreas(1) 1 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AGATTCCCCTCCAGTTGGAGC 0.652 NaN 0 0 0 0.01441 0 57 92 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr12:132547087G>A uc001ujn.2 + 46 8210 c.8175G>A c.(8173-8175)CAG>CAA p.Q2725Q EP400_uc001ujl.2_Silent_p.Q2724Q|EP400_uc001ujm.2_Silent_p.Q2644Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2761 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.289 NaN 0 0 0 0.00308 0 7 42 PARP4 143 broad.mit.edu 37 13 25074482 25074482 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:25074482C>T uc001upl.2 - 4 479 c.373G>A c.(373-375)GAG>AAG p.E125K PARP4_uc010tdc.1_Missense_Mutation_p.E125K NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 125 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TCTTCCTCCTCTGTGGCACTG 0.398 NaN 0 0 0 0.007291 0 26 55 N4BP2L2 10443 broad.mit.edu 37 13 33110210 33110210 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:33110210C>A uc001uuk.3 - 2 1133 c.955G>T c.(955-957)GTA>TTA p.V319L N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.V319L|N4BP2L2_uc001uum.2_5'Flank NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 319 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CAATTATTTACATAATATCCA 0.348 NaN 1 0 2.27731e-05 0.012319 2.37552e-05 22 49 FAM48A 55578 broad.mit.edu 37 13 37618294 37618294 + Missense_Mutation SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:37618294T>C uc001uwg.2 - 7 565 c.317A>G c.(316-318)TAT>TGT p.Y106C FAM48A_uc010abt.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwh.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwi.2_Missense_Mutation_p.Y106C|FAM48A_uc001uwj.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwk.2_Missense_Mutation_p.Y106C|FAM48A_uc010tes.1_Missense_Mutation_p.Y94C|FAM48A_uc001uwl.1_Missense_Mutation_p.Y106C NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 106 autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) TCCTTCTTCATAGGGCAGTCG 0.338 NaN 0 0 0 0.007291 0 26 27 FNDC3A 22862 broad.mit.edu 37 13 49752710 49752710 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:49752710G>A uc001vcm.2 + 14 1842 c.1537G>A c.(1537-1539)GGT>AGT p.G513S FNDC3A_uc001vcn.2_Missense_Mutation_p.G513S|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.G439S|FNDC3A_uc001vcq.2_Missense_Mutation_p.G457S NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 513 Fibronectin type-III 3. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CCAGGGATATGGTTTTAAGCC 0.338 NaN 0 0 0 0.006214 0 9 24 ABCC4 10257 broad.mit.edu 37 13 95726579 95726579 + Splice_Site SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:95726579C>T uc001vmd.3 - 23 2926 c.2807_splice c.e23-1 p.E936_splice ABCC4_uc010afk.2_Splice_Site_p.E889_splice NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) AACCAAGCCTCTGAATTTGAG 0.458 NaN 0 0 0 0.001984 0 7 15 DNAJC3 5611 broad.mit.edu 37 13 96361561 96361561 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:96361561G>A uc001vmq.2 + 2 271 c.163G>A c.(163-165)GAT>AAT p.D55N DNAJC3_uc001vmp.2_Missense_Mutation_p.D55N|DNAJC3_uc001vmr.2_Missense_Mutation_p.D55N NM_006260 NP_006251 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 55 TPR 1. protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding 0 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) ACAGCTAGCTGATGCTTTATC 0.358 NaN 0 0 0 0.008291 0 10 47 LIG4 3981 broad.mit.edu 37 13 108861189 108861189 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:108861189G>C uc001vqn.2 - 2 2701 c.2428C>G c.(2428-2430)CTC>GTC p.L810V LIG4_uc001vqo.2_Missense_Mutation_p.L810V|LIG4_uc010agg.1_Missense_Mutation_p.L743V|LIG4_uc010agf.2_Missense_Mutation_p.L810V|LIG4_uc001vqp.2_Missense_Mutation_p.L810V NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 810 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AACATACTGAGAGGAGAGCAA 0.403 NaN NHEJ 0 0 0 0.008871 0 21 43 MCF2L 23263 broad.mit.edu 37 13 113730363 113730363 + Silent SNP T T A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:113730363T>A uc001vsu.2 + 12 1585 c.1563T>A c.(1561-1563)GCT>GCA p.A521A MCF2L_uc001vsq.2_Silent_p.A521A|MCF2L_uc010tjr.1_Silent_p.A464A|MCF2L_uc001vsr.2_Silent_p.A468A|MCF2L_uc001vss.3_Silent_p.A462A|MCF2L_uc010tjs.1_Silent_p.A462A|MCF2L_uc001vst.1_Silent_p.A426A NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 494 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GCGCGGAGGCTGCCCTCCAGG 0.522 NaN 0 0 0 0.010729 0 12 15 CDC16 8881 broad.mit.edu 37 13 115008757 115008757 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr13:115008757C>T uc001vuk.1 + 7 765 c.567C>T c.(565-567)CCC>CCT p.P189P CDC16_uc010tkm.1_3'UTR|CDC16_uc001vul.1_Silent_p.P189P|CDC16_uc001vum.1_Silent_p.P95P|CDC16_uc001vun.1_Silent_p.P188P|CDC16_uc001vuo.1_Silent_p.P188P NM_003903 NP_003894 Q13042 CDC16_HUMAN anaphase-promoting complex, subunit 6 189 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding 0 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) AATCACTACCCCTTAGCAAGC 0.308 NaN 0 0 0 0.01892 0 21 58 RNASE9 390443 broad.mit.edu 37 14 21025034 21025034 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr14:21025034G>A uc010aho.2 - 4 354 c.195C>T c.(193-195)GTC>GTT p.V65V RNASE9_uc001vxq.3_Silent_p.V70V|RNASE9_uc010ahp.2_Silent_p.V70V|RNASE9_uc010ahq.2_Silent_p.V70V|RNASE9_uc010ahr.2_Silent_p.V70V|RNASE9_uc010ahs.2_Silent_p.V65V|RNASE9_uc010aht.2_Silent_p.V65V|RNASE9_uc010ahu.2_Silent_p.V65V NM_001110357 NP_001103827 P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 65 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(2) 2 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) CACGTCTTTTGACTTTTTCTT 0.363 NaN 0 0 0 0.01441 0 46 70 FLJ10357 55701 broad.mit.edu 37 14 21556227 21556227 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr14:21556227C>T uc001vzp.2 + 22 4517 c.4488C>T c.(4486-4488)GCC>GCT p.A1496A FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.A734A NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 1496 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) CCACCCTGGCCAGTCGAGGGA 0.567 NaN 0 0 0 0.012319 0 22 23 AKAP6 9472 broad.mit.edu 37 14 32902953 32902953 + Missense_Mutation SNP G G A rs148757348 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr14:32902953G>A uc001wrq.2 + 2 424 c.254G>A c.(253-255)CGA>CAA p.R85Q AKAP6_uc010aml.2_Missense_Mutation_p.R82Q NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 85 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGAGGGTCCGAGACCTAACC 0.502 NaN 0 0 0 0.007413 0 20 17 CALM1 801 broad.mit.edu 37 14 90867659 90867659 + Missense_Mutation SNP A A G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr14:90867659A>G uc001xyl.1 + 3 293 c.91A>G c.(91-93)AAG>GAG p.K31E CALM1_uc010atq.1_Missense_Mutation_p.K32E|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_5'UTR NM_006888 NP_008819 P62158 CALM_HUMAN calmodulin 1 isoform 1 31 1.|EF-hand 1. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding central_nervous_system(1) 1 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) CATCACAACAAAGGAACTTGG 0.413 NaN 0 0 0 0.01441 0 56 27 KIAA1409 57578 broad.mit.edu 37 14 94088400 94088400 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr14:94088400G>A uc001ybv.1 + 28 4439 c.4356G>A c.(4354-4356)CTG>CTA p.L1452L KIAA1409_uc001ybs.1_Silent_p.L1430L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1607 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ATTTAGATCTGATAGATCTAT 0.473 NaN 0 0 0 0.013537 0 13 35 TCL1B 9623 broad.mit.edu 37 14 96152883 96152883 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr14:96152883G>A uc001yez.2 + 1 121 c.79G>A c.(79-81)GAG>AAG p.E27K TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.E27K NM_004918 NP_004909 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 27 ovary(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CTACGAAGATGAGGAGGGGAG 0.642 NaN 0 0 0 0.012319 0 22 25 PACS2 23241 broad.mit.edu 37 14 105859633 105859633 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr14:105859633C>G uc001yqt.2 + 23 2687 c.2512C>G c.(2512-2514)CTC>GTC p.L838V PACS2_uc001yqs.2_Missense_Mutation_p.L763V|PACS2_uc001yqv.2_Missense_Mutation_p.L842V|PACS2_uc001yqu.2_Missense_Mutation_p.L853V NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 838 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CATCAGCCGGCTCATCTGCAC 0.602 NaN 0 0 0 0.00499 0 16 23 OTUD7A 161725 broad.mit.edu 37 15 31862286 31862286 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr15:31862286C>T uc001zfq.2 - 2 359 c.266G>A c.(265-267)CGA>CAA p.R89Q OTUD7A_uc001zfr.2_Missense_Mutation_p.R89Q|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.R89Q NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 89 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CTGTGGCTCTCGCTCTGGCTG 0.642 NaN 0 0 0 0.004672 0 3 44 TGM5 9333 broad.mit.edu 37 15 43552715 43552715 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr15:43552715C>T uc001zrd.1 - 2 81 c.73G>A c.(73-75)GAG>AAG p.E25K TGM5_uc001zre.1_Missense_Mutation_p.E25K NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 25 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) ACAGTGATCTCCTCCGTGTGG 0.582 NaN 0 0 0 0.009718 0 41 77 PARP6 56965 broad.mit.edu 37 15 72552924 72552924 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr15:72552924C>T uc002auc.2 - 9 1110 c.651G>A c.(649-651)ATG>ATA p.M217I PARP6_uc002aua.2_Missense_Mutation_p.M82I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.M217I NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 217 NAD+ ADP-ribosyltransferase activity 0 TGGGGTTCTTCATGGTACAGG 0.587 NaN 0 0 0 0.01441 0 202 349 CCDC33 80125 broad.mit.edu 37 15 74588272 74588272 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr15:74588272G>A uc002axo.2 + 11 1667 c.1273G>A c.(1273-1275)GAG>AAG p.E425K CCDC33_uc002axp.2_Missense_Mutation_p.E247K NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 628 protein binding ovary(3)|skin(2) 5 TCTGGTGCCTGAGATGTCCCA 0.587 NaN 0 0 0 0.001984 0 7 12 SH3GL3 6457 broad.mit.edu 37 15 84233946 84233946 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr15:84233946C>A uc002bjw.2 + 3 370 c.175C>A c.(175-177)CAG>AAG p.Q59K SH3GL3_uc010bms.2_Missense_Mutation_p.Q59K|SH3GL3_uc010uot.1_Missense_Mutation_p.Q59K|SH3GL3_uc002bjx.2_5'UTR|SH3GL3_uc002bju.2_Missense_Mutation_p.Q67K|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 59 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 TGAATATCTTCAGCCAAATCC 0.294 NaN 1 0 1.99824e-07 0.00499 2.11868e-07 16 34 ACAN 176 broad.mit.edu 37 15 89379446 89379446 + Silent SNP T T A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr15:89379446T>A uc010upo.1 + 2 383 c.9T>A c.(7-9)ACT>ACA p.T3T ACAN_uc002bmx.2_Silent_p.T3T|ACAN_uc010upp.1_Silent_p.T3T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 3 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTATGACCACTTTACTCTGGG 0.468 NaN 0 0 0 0.009096 0 4 14 RHBDL1 9028 broad.mit.edu 37 16 726483 726483 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:726483G>A uc002cis.1 + 1 409 c.382G>A c.(382-384)GAG>AAG p.E128K RHBDL1_uc002cir.1_Missense_Mutation_p.E63K|RHBDL1_uc010uun.1_Missense_Mutation_p.E63K NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 128 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) CTGCTACCAGGAGCTGGTGGA 0.706 NaN 0 0 0 0.013537 0 9 9 RHBDL1 9028 broad.mit.edu 37 16 726497 726497 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:726497G>A uc002cis.1 + 1 423 c.396G>A c.(394-396)CTG>CTA p.L132L RHBDL1_uc002cir.1_Silent_p.L67L|RHBDL1_uc010uun.1_Silent_p.L67L NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 132 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) TGGTGGACCTGGTCAGTGCCA 0.706 NaN 0 0 0 0.020292 0 14 7 BAIAP3 8938 broad.mit.edu 37 16 1398294 1398294 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:1398294G>C uc002clk.1 + 33 3452 c.3452G>C c.(3451-3453)AGA>ACA p.R1151T BAIAP3_uc002clj.2_Missense_Mutation_p.R1133T|BAIAP3_uc010uuz.1_Missense_Mutation_p.R1116T|BAIAP3_uc010uva.1_Missense_Mutation_p.R1088T|BAIAP3_uc010uvc.1_Missense_Mutation_p.R1080T NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 1151 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) TGCCGGCCCAGAGCCCAGGGT 0.731 NaN 0 0 0 0.004672 0 2 12 CREBBP 1387 broad.mit.edu 37 16 3820792 3820792 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:3820792G>A uc002cvv.2 - 14 2863 c.2659C>T c.(2659-2661)CAG>TAG p.Q887* CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q849* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 887 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTTGATGGCTGAGTGGGAGCT 0.642 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.025465 0 40 14 CREBBP 1387 broad.mit.edu 37 16 3820952 3820952 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:3820952G>C uc002cvv.2 - 14 2703 c.2499C>G c.(2497-2499)CTC>CTG p.L833L CREBBP_uc002cvw.2_Silent_p.L795L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 833 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCAGCATGTTGAGAGGGTTAG 0.542 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.01441 0 58 27 GLYR1 84656 broad.mit.edu 37 16 4862198 4862198 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:4862198G>A uc002cxx.3 - 13 1208 c.1171C>T c.(1171-1173)CAG>TAG p.Q391* GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Nonsense_Mutation_p.Q305*|GLYR1_uc002cya.2_Nonsense_Mutation_p.Q385*|GLYR1_uc010uxv.1_Nonsense_Mutation_p.Q310* NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 391 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 GACAGCTGCTGATTCCCTGAG 0.587 NaN 0 0 0 0.009096 0 4 24 MKL2 57496 broad.mit.edu 37 16 14340888 14340888 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:14340888G>C uc010uza.1 + 12 1926 c.1771G>C c.(1771-1773)GAG>CAG p.E591Q MKL2_uc002dcg.2_Missense_Mutation_p.E591Q|MKL2_uc002dcj.2_5'Flank NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 580 Required for interaction with itself and with MKL1.|Potential. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 ACTGGAACAAGAGCAGAAGCT 0.532 NaN 0 0 0 0.00308 0 7 38 PALB2 79728 broad.mit.edu 37 16 23646501 23646501 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:23646501C>G uc002dlx.1 - 4 1566 c.1366G>C c.(1366-1368)GAG>CAG p.E456Q NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 456 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) TCAGTTTCCTCATTGGAAAGG 0.378 NaN F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 0 0 0 0.013726 0 33 86 ATP2A1 487 broad.mit.edu 37 16 28893844 28893844 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:28893844G>A uc002dro.1 + 5 581 c.397G>A c.(397-399)GAC>AAC p.D133N uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.D133N|ATP2A1_uc002drp.1_Missense_Mutation_p.D8N NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 133 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTACCGGGCTGACCGCAAGTC 0.627 NaN 0 0 0 0.020292 0 14 44 CD19 930 broad.mit.edu 37 16 28950083 28950083 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:28950083G>A uc002drs.2 + 13 1635 c.1573G>A c.(1573-1575)GAG>AAG p.E525K uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.E526K NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 525 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 ACCCAATCATGAGGAAGGTGG 0.622 NaN 0 0 0 0.014323 0 21 31 PPP4C 5531 broad.mit.edu 37 16 30092610 30092610 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:30092610G>A uc002dwe.2 + 3 273 c.129G>A c.(127-129)CAG>CAA p.Q43Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.Q43Q|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Intron NM_002720 NP_002711 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 43 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity skin(1) 1 GCAACGTGCAGAGGGTGGACT 0.567 NaN 0 0 0 0.001984 0 7 110 ITFG1 81533 broad.mit.edu 37 16 47347638 47347638 + Splice_Site SNP A A G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:47347638A>G uc002eet.2 - 9 959 c.897_splice c.e9+1 p.Q299_splice ITFG1_uc010vgg.1_Splice_Site_p.Q44_splice|ITFG1_uc010vgh.1_Splice_Site_p.Q186_splice NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AACTTGATATACCTGCTTCAT 0.363 NaN 0 0 0 0.008871 0 18 31 RBL2 5934 broad.mit.edu 37 16 53504333 53504333 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:53504333G>C uc002ehi.3 + 16 2402 c.2284G>C c.(2284-2286)GTC>CTC p.V762L RBL2_uc002ehj.2_Missense_Mutation_p.V472L|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 762 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ATTCTTCCCTGTCCAAGTCAA 0.502 NaN 0 0 0 0.010729 0 12 36 FTO 79068 broad.mit.edu 37 16 53878094 53878094 + Missense_Mutation SNP C C T rs76762929 by1000genomes TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:53878094C>T uc002ehr.2 + 4 1001 c.779C>T c.(778-780)TCT>TTT p.S260F FTO_uc010vha.1_5'UTR NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 260 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GAGGATGACTCTCATCTCGAA 0.403 NaN 0 0 0 0.012319 0 21 34 IRX3 79191 broad.mit.edu 37 16 54319259 54319259 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:54319259G>A uc002eht.1 - 2 950 c.534C>T c.(532-534)TTC>TTT p.F178F NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 178 Homeobox; TALE-type. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCGCGTTGGCGAACCAGGTGG 0.607 NaN 0 0 0 0.00632 0 24 52 AP1G1 164 broad.mit.edu 37 16 71805129 71805129 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:71805129G>A uc010cgg.2 - 5 809 c.495C>T c.(493-495)ATC>ATT p.I165I AP1G1_uc002fba.2_Silent_p.I165I|AP1G1_uc002fbb.2_Silent_p.I188I|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.I247I NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 165 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) GAACTTTCCTGATGACATGAA 0.318 NaN 0 0 0 0.00499 0 15 18 PMFBP1 83449 broad.mit.edu 37 16 72159145 72159145 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:72159145C>T uc002fcc.3 - 16 2600 c.2428G>A c.(2428-2430)GAG>AAG p.E810K PMFBP1_uc002fcd.2_Missense_Mutation_p.E805K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E660K|PMFBP1_uc010cgo.1_Missense_Mutation_p.E101K NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 810 Potential. ovary(2) 2 Ovarian(137;0.179) ACCTCCAGCTCACTCTCCTGG 0.498 NaN OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.025465 0 40 106 NECAB2 54550 broad.mit.edu 37 16 84028251 84028251 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:84028251G>C uc002fhd.2 + 8 770 c.753G>C c.(751-753)CAG>CAC p.Q251H NECAB2_uc002fhe.2_Missense_Mutation_p.Q168H NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 251 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 TGGAAGCCCAGATCAGCCGCT 0.602 NaN 0 0 0 0.021553 0 5 31 LRRC50 123872 broad.mit.edu 37 16 84182710 84182710 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr16:84182710G>A uc002fhl.3 + 2 404 c.223G>A c.(223-225)GCA>ACA p.A75T LRRC50_uc010chi.1_RNA NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 75 Missing (in CILD13). axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 TGGTCACTTCGCACACCCAAG 0.413 NaN Kartagener_syndrome 0 0 0 0.010818 0 33 48 TRPV3 162514 broad.mit.edu 37 17 3433367 3433367 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:3433367G>A uc002fvt.1 - 9 1518 c.1196C>T c.(1195-1197)ACG>ATG p.T399M TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.T383M|TRPV3_uc010vri.1_Missense_Mutation_p.T354M|TRPV3_uc010vrj.1_Missense_Mutation_p.T383M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.T383M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.T399M|TRPV3_uc002fvu.2_Missense_Mutation_p.T399M|TRPV3_uc010vrn.1_Translation_Start_Site NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 399 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) TGAGTTGTCCGTGGTGGTGTC 0.607 NaN 0 0 0 0.015359 0 30 18 GPS2 2874 broad.mit.edu 37 17 7217458 7217458 + Nonsense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:7217458G>T uc002gfv.1 - 4 601 c.338C>A c.(337-339)TCA>TAA p.S113* GPS2_uc002gfw.1_Nonsense_Mutation_p.S75*|GPS2_uc002gfx.1_Nonsense_Mutation_p.S113*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.S113* NM_004489 NP_004480 Q13227 GPS2_HUMAN G protein pathway suppressor 2 113 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity ovary(2)|pancreas(1) 3 Prostate(122;0.157) GTATGCAGCTGATGTTAGGGT 0.488 NaN 1 0 1.93748e-29 0.01441 2.1423e-29 54 36 MYH13 8735 broad.mit.edu 37 17 10219314 10219314 + Missense_Mutation SNP A A G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:10219314A>G uc002gmk.1 - 28 3857 c.3767T>C c.(3766-3768)GTA>GCA p.V1256A NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1256 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TTGATCTTCTACCGTCCGGCA 0.428 NaN 0 0 0 0.028581 0 17 39 MYO18A 399687 broad.mit.edu 37 17 27437053 27437053 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:27437053C>T uc002hdt.1 - 19 3312 c.3154G>A c.(3154-3156)GAG>AAG p.E1052K MYO18A_uc010wbc.1_Missense_Mutation_p.E594K|MYO18A_uc002hds.2_Missense_Mutation_p.E594K|MYO18A_uc010csa.1_Missense_Mutation_p.E1052K|MYO18A_uc002hdu.1_Missense_Mutation_p.E1052K|MYO18A_uc010wbd.1_Missense_Mutation_p.E721K NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1052 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GCCCAGCCCTCAGCTACAGGC 0.647 NaN 0 0 0 0.004482 0 8 24 ACCN1 40 broad.mit.edu 37 17 31344625 31344625 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:31344625C>G uc002hhu.2 - 8 1640 c.1366G>C c.(1366-1368)GAG>CAG p.E456Q ACCN1_uc002hht.2_Missense_Mutation_p.E507Q NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 456 Cytoplasmic (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding p.L456fs*2(1) ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) AATCTTACCTCATAAATATAA 0.473 NaN 0 0 0 0.020292 0 13 24 ERBB2 2064 broad.mit.edu 37 17 37872839 37872839 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:37872839C>T uc002hso.2 + 14 1956 c.1718C>T c.(1717-1719)TCA>TTA p.S573L ERBB2_uc002hsm.2_Missense_Mutation_p.S543L|ERBB2_uc010cwa.2_Missense_Mutation_p.S558L|ERBB2_uc002hsp.2_Missense_Mutation_p.S376L|ERBB2_uc010cwb.2_Missense_Mutation_p.S573L|ERBB2_uc010wek.1_Missense_Mutation_p.S297L|ERBB2_uc002hsl.2_Missense_Mutation_p.S543L NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 573 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CAGAATGGCTCAGTGACCTGT 0.637 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.010729 0 10 19 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:39240627T>C uc010wfn.1 + 1 169 c.169T>C c.(169-171)TCT>CCT p.S57P NM_033061 NP_149050 keratin associated protein 4-7 0 GTGCTGCCAGTCTGTGTGCTG 0.493 NaN 0 0 0 0.009096 0 3 50 NBR1 4077 broad.mit.edu 37 17 41355748 41355748 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:41355748C>T uc010czd.2 + 20 2812 c.2672C>T c.(2671-2673)TCT>TTT p.S891F NBR1_uc010diz.2_Missense_Mutation_p.S891F|NBR1_uc010whu.1_Missense_Mutation_p.S891F|NBR1_uc010whv.1_Missense_Mutation_p.S891F|NBR1_uc010whw.1_Intron NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 891 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GGGGCTTTGTCTGTTGCTGCC 0.493 NaN 0 0 0 0.004482 0 7 11 NBR1 4077 broad.mit.edu 37 17 41355760 41355760 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:41355760C>T uc010czd.2 + 20 2824 c.2684C>T c.(2683-2685)TCT>TTT p.S895F NBR1_uc010diz.2_Missense_Mutation_p.S895F|NBR1_uc010whu.1_Missense_Mutation_p.S895F|NBR1_uc010whv.1_Missense_Mutation_p.S895F|NBR1_uc010whw.1_Intron NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 895 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GTTGCTGCCTCTGCATACAAG 0.502 NaN 0 0 0 0.001984 0 7 10 HEXIM1 10614 broad.mit.edu 37 17 43227360 43227360 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:43227360C>T uc002iig.2 + 1 2677 c.803C>T c.(802-804)TCG>TTG p.S268L NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 268 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 CGGGACTTCTCGGAGACGTAC 0.602 NaN 0 0 0 0.007413 0 19 31 DLX3 1747 broad.mit.edu 37 17 48070801 48070801 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:48070801G>A uc002ipy.2 - 2 705 c.479C>T c.(478-480)GCC>GTC p.A160V NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 160 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGCCAGCTCGGCGCGCTCGGG 0.711 NaN 0 0 0 0.014758 0 3 14 HLF 3131 broad.mit.edu 37 17 53345431 53345431 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:53345431G>C uc002iug.1 + 2 960 c.435G>C c.(433-435)CAG>CAC p.Q145H HLF_uc010dce.1_Missense_Mutation_p.Q60H|HLF_uc002iuh.2_Missense_Mutation_p.Q60H|HLF_uc010wni.1_Missense_Mutation_p.R94T NM_002126 NP_002117 Q16534 HLF_HUMAN hepatic leukemia factor 145 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 ACTGTATGCAGAGCCCCATCA 0.582 NaN T TCF3 ALL 0 0 0 0.013726 0 34 61 LRRC37A3 374819 broad.mit.edu 37 17 62865278 62865278 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:62865278G>C uc002jey.2 - 8 3444 c.2913C>G c.(2911-2913)CTC>CTG p.L971L LRRC37A3_uc010wqg.1_Silent_p.L89L|LRRC37A3_uc010wqf.1_Silent_p.L9L|LRRC37A3_uc010dek.1_5'UTR NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 971 Extracellular (Potential).|LRR 8. integral to membrane 0 GATTGTGATTGAGAATTCTGA 0.318 NaN 0 0 0 0.025465 0 32 104 ABCA5 23461 broad.mit.edu 37 17 67270112 67270112 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:67270112G>A uc002jif.2 - 19 3970 c.2752C>T c.(2752-2754)CAA>TAA p.Q918* ABCA5_uc002jic.2_Nonsense_Mutation_p.Q141*|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.Q918*|ABCA5_uc002jih.2_Nonsense_Mutation_p.Q918*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.Q918* NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 918 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) GCAGAATTTTGAAGAAGCAGA 0.393 NaN 0 0 0 0.015359 0 34 49 GGA3 23163 broad.mit.edu 37 17 73235955 73235955 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:73235955C>A uc002jni.1 - 13 1507 c.1498G>T c.(1498-1500)GTC>TTC p.V500F GGA3_uc002jnj.1_Missense_Mutation_p.V467F|GGA3_uc010wrw.1_Missense_Mutation_p.V378F|GGA3_uc002jnk.1_Missense_Mutation_p.V428F|GGA3_uc010wrx.1_Missense_Mutation_p.V378F|GGA3_uc010wry.1_Missense_Mutation_p.V428F NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 500 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) TGCCCAGGGACTGCGGGCTCA 0.617 NaN 1 0 3.07112e-06 0.010729 3.22968e-06 8 24 FSCN2 25794 broad.mit.edu 37 17 79496104 79496104 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr17:79496104C>G uc010wup.1 + 1 688 c.547C>G c.(547-549)CGG>GGG p.R183G FSCN2_uc010wuo.1_Missense_Mutation_p.R183G NM_012418 NP_036550 O14926 FSCN2_HUMAN fascin 2 isoform 1 183 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging 0 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CCGGAGCCGACGGTACTGCCT 0.682 NaN 0 0 0 0.009096 0 4 7 TYMS 7298 broad.mit.edu 37 18 670747 670747 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr18:670747G>A uc010dka.1 + 5 751 c.612G>A c.(610-612)GTG>GTA p.V204V TYMS_uc010dkb.1_Silent_p.V170V|TYMS_uc010dkc.1_Silent_p.V121V NM_001071 NP_001062 P04818 TYSY_HUMAN thymidylate synthase 204 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity 0 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) TCTATGTGGTGAACAGTGAGC 0.552 NaN 0 0 0 0.013726 0 32 45 TYMS 7298 broad.mit.edu 37 18 670754 670754 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr18:670754G>A uc010dka.1 + 5 758 c.619G>A c.(619-621)GAG>AAG p.E207K TYMS_uc010dkb.1_Missense_Mutation_p.E173K|TYMS_uc010dkc.1_Missense_Mutation_p.E124K NM_001071 NP_001062 P04818 TYSY_HUMAN thymidylate synthase 207 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity 0 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) GGTGAACAGTGAGCTGTCCTG 0.567 NaN 0 0 0 0.012213 0 30 46 CHMP1B 57132 broad.mit.edu 37 18 11851604 11851604 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr18:11851604G>A uc002kqe.2 + 1 216 c.94G>A c.(94-96)GAA>AAA p.E32K GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron NM_020412 NP_065145 Q7LBR1 CHM1B_HUMAN chromatin modifying protein 1B 32 Potential. cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding 0 GGAAAAGGCCGAAAAGGCCAA 0.473 NaN 0 0 0 0.021553 0 6 9 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr18:14513764C>T uc010dln.2 - 10 1884 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 477 skin(3) 3 AAGTTGTTTCCGGGTATCATT 0.358 NaN 0 0 0 0.014758 0 4 37 RPRD1A 55197 broad.mit.edu 37 18 33607165 33607165 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr18:33607165G>A uc002kzf.1 - 5 601 c.595C>T c.(595-597)CTA>TTA p.L199L RPRD1A_uc002kze.1_Silent_p.L163L|RPRD1A_uc002kzg.2_Silent_p.L199L|RPRD1A_uc010dmw.2_Silent_p.L163L|RPRD1A_uc010dmx.2_Silent_p.L199L NM_018170 NP_060640 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 199 ovary(1)|breast(1) 2 TTATCTAATAGAGATACTTCT 0.368 NaN 0 0 0 0.027356 0 26 60 MYO5B 4645 broad.mit.edu 37 18 47363122 47363122 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr18:47363122C>G uc002leb.2 - 38 5560 c.5272G>C c.(5272-5274)GAG>CAG p.E1758Q MYO5B_uc002ldz.2_Missense_Mutation_p.E328Q|MYO5B_uc002lea.2_Missense_Mutation_p.E873Q NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1758 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CAGATAGCCTCTGCGTCCTCC 0.532 NaN 0 0 0 0.021523 0 23 30 REXO1 57455 broad.mit.edu 37 19 1818820 1818820 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:1818820G>A uc002lua.3 - 9 2882 c.2787C>T c.(2785-2787)CTC>CTT p.L929L REXO1_uc010dsq.2_Silent_p.L238L|REXO1_uc010xgs.1_5'UTR|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 929 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|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) GGTACTCCCTGAGGCGGCTGT 0.677 NaN 0 0 0 0.004482 0 8 17 TICAM1 148022 broad.mit.edu 37 19 4816641 4816641 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:4816641C>A uc002mbi.2 - 2 2000 c.1749G>T c.(1747-1749)CAG>CAT p.Q583H NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 583 Sufficient to induce apoptosis. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GCTGCTCCATCTGTGCCTGGT 0.632 NaN 1 0 3.59834e-05 0.021553 3.73339e-05 5 42 TICAM1 148022 broad.mit.edu 37 19 4816911 4816911 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:4816911C>G uc002mbi.2 - 2 1730 c.1479G>C c.(1477-1479)GAG>GAC p.E493D NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 493 E->A: Loss of TCAM1-induced NF-kappa-B and IRF3 activation. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CCGGGGAGCTCTCCAGGGGCA 0.652 NaN 0 0 0 0.001984 0 6 29 INSR 3643 broad.mit.edu 37 19 7267597 7267597 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:7267597C>T uc002mgd.1 - 2 520 c.411G>A c.(409-411)ATG>ATA p.M137I INSR_uc002mge.1_Missense_Mutation_p.M137I|INSR_uc002mgf.2_Missense_Mutation_p.M137I NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 137 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGTGATGTTCATCAGGTTGT 0.522 NaN 0 0 0 0.020292 0 15 44 MUC16 94025 broad.mit.edu 37 19 8999519 8999519 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:8999519G>C uc002mkp.2 - 56 40860 c.40656C>G c.(40654-40656)ACC>ACG p.T13552T MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.T369T|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGGGCGGTAGGTGCAGATGG 0.597 NaN 0 0 0 0.027894 0 40 63 QTRT1 81890 broad.mit.edu 37 19 10812162 10812162 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:10812162C>T uc002mpr.2 + 1 51 c.26C>T c.(25-27)TCC>TTC p.S9F NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 9 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) ACCCAGGCTTCCCTGGAGTCG 0.692 NaN 0 0 0 0.004672 0 3 14 SMARCA4 6597 broad.mit.edu 37 19 11123707 11123707 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:11123707C>A uc002mqf.3 + 16 2641 c.2357C>A c.(2356-2358)ACC>AAC p.T786N SMARCA4_uc010dxp.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxo.2_Missense_Mutation_p.T786N|SMARCA4_uc002mqg.1_Missense_Mutation_p.T786N|SMARCA4_uc010dxq.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxr.2_Missense_Mutation_p.T786N|SMARCA4_uc002mqj.3_Missense_Mutation_p.T786N|SMARCA4_uc010dxs.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxt.1_Missense_Mutation_p.T6N NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 786 Helicase ATP-binding.|ATP (Potential). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTGGGGAAGACCATCCAGACC 0.577 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 1 0 3.52763e-06 0.00499 3.69971e-06 18 26 ZNF208 7757 broad.mit.edu 37 19 22156562 22156562 + Missense_Mutation SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:22156562T>C uc002nqp.2 - 4 1423 c.1274A>G c.(1273-1275)TAC>TGC p.Y425C ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTCACATTTGTAGGGTTTCTC 0.388 NaN 0 0 0 0.013726 0 33 53 ZNF146 7705 broad.mit.edu 37 19 36728009 36728009 + Nonsense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:36728009C>T uc002odq.3 + 4 2190 c.667C>T c.(667-669)CAG>TAG p.Q223* ZNF146_uc010eet.2_Nonsense_Mutation_p.Q223*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.Q223* NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 223 Interaction with TERF2IP.|C2H2-type 8. regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) AGCCTTCTCTCAGAGCTCATC 0.443 NaN 0 0 0 0.011902 0 47 75 ACTN4 81 broad.mit.edu 37 19 39214966 39214966 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:39214966C>A uc002oja.1 + 15 1921 c.1862C>A c.(1861-1863)TCC>TAC p.S621Y ACTN4_uc002ojb.1_5'Flank NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 621 Spectrin 3. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ATCATCAACTCCAAGTGGGAG 0.667 NaN 1 0 3.07112e-06 0.010729 3.22968e-06 12 16 SPTBN4 57731 broad.mit.edu 37 19 41008156 41008156 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:41008156C>T uc002ony.2 + 9 1105 c.1019C>T c.(1018-1020)TCC>TTC p.S340F SPTBN4_uc002onx.2_Missense_Mutation_p.S340F|SPTBN4_uc002onz.2_Missense_Mutation_p.S340F NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 340 Spectrin 1. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTTGCCAACTCCTTAAGTGGG 0.602 NaN 0 0 0 0.00499 0 17 59 PSG2 5670 broad.mit.edu 37 19 43575862 43575862 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:43575862G>C uc002ovr.2 - 4 1047 c.954C>G c.(952-954)GTC>GTG p.V318V PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.V318V|PSG2_uc010eiq.1_Silent_p.V318V|PSG2_uc002ovs.3_Silent_p.V318V|PSG2_uc002ovt.3_Silent_p.V318V NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 318 cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) CAGAGACTTTGACTGTCAACG 0.458 NaN 0 0 0 0.01441 0 93 152 ZNF230 7773 broad.mit.edu 37 19 44514437 44514437 + Silent SNP G G A rs150544790 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:44514437G>A uc002oyb.1 + 5 497 c.246G>A c.(244-246)GCG>GCA p.A82A NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 82 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) AGACTATTGCGGAAGCAGGAC 0.423 NaN 0 0 0 0.004672 0 3 36 ZNF180 7733 broad.mit.edu 37 19 44981167 44981167 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:44981167G>A uc002ozf.3 - 5 1813 c.1531C>T c.(1531-1533)CAT>TAT p.H511Y ZNF180_uc002ozh.3_Missense_Mutation_p.H168Y|ZNF180_uc002ozi.3_Missense_Mutation_p.H484Y|ZNF180_uc002ozg.3_Missense_Mutation_p.H510Y|ZNF180_uc010ejm.2_Missense_Mutation_p.H486Y NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 511 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) GTTCTCTGATGAGCAACAAGT 0.393 NaN 0 0 0 0.00499 0 18 86 PNMAL1 55228 broad.mit.edu 37 19 46973831 46973831 + Silent SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:46973831C>A uc002peq.3 - 2 768 c.462G>T c.(460-462)CTG>CTT p.L154L PNMAL1_uc002per.3_Silent_p.L154L NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 154 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCACTGCTCCCAGAAGCACCc 0.343 NaN 1 0 1.74807e-11 0.010818 1.89497e-11 30 70 SYT3 84258 broad.mit.edu 37 19 51129249 51129249 + Missense_Mutation SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:51129249T>C uc002pst.2 - 5 1941 c.1307A>G c.(1306-1308)AAC>AGC p.N436S SYT3_uc002psv.2_Missense_Mutation_p.N436S|SYT3_uc010ycd.1_Missense_Mutation_p.N436S NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 436 C2 2.|Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GAGTGAGAAGTTGAGCTCCCC 0.557 NaN 0 0 0 0.001984 0 6 10 SIGLEC10 89790 broad.mit.edu 37 19 51914402 51914402 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:51914402C>T uc002pwo.2 - 11 2661 c.2045G>A c.(2044-2046)CGG>CAG p.R682Q SIGLEC10_uc002pwp.2_Missense_Mutation_p.R624Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.R529Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.R587Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.R497Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.R539Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.R399Q NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 682 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CTTGGGCATCCGGGCCTCAGG 0.572 NaN 0 0 0 0.016522 0 25 77 NLRP2 55655 broad.mit.edu 37 19 55494635 55494635 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:55494635G>A uc002qij.2 + 6 1655 c.1569G>A c.(1567-1569)GAG>GAA p.E523E NLRP2_uc010yfp.1_Silent_p.E500E|NLRP2_uc010esn.2_Silent_p.E499E|NLRP2_uc010eso.2_Silent_p.E520E|NLRP2_uc010esp.2_Silent_p.E501E NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 523 NACHT.|Poly-Glu. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGGAGGAAGAGGATAGGGACG 0.557 NaN 0 0 0 0.007413 0 19 58 NLRP9 338321 broad.mit.edu 37 19 56223188 56223188 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:56223188C>T uc002qly.2 - 8 2849 c.2821G>A c.(2821-2823)GAC>AAC p.D941N NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 941 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGGGCACAGTCCGGGTGGCTC 0.552 NaN 0 0 0 0.014758 0 5 25 NLRP4 147945 broad.mit.edu 37 19 56369819 56369819 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:56369819G>A uc002qmd.3 + 3 1482 c.1060G>A c.(1060-1062)GAG>AAG p.E354K NLRP4_uc002qmf.2_Missense_Mutation_p.E279K|NLRP4_uc010etf.2_Missense_Mutation_p.E185K NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 354 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) TCTGAAGCAAGAGATGCAGAA 0.507 NaN 0 0 0 0.01892 0 25 43 ZNF471 57573 broad.mit.edu 37 19 57027736 57027736 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:57027736G>A uc002qnh.2 + 3 259 c.126G>A c.(124-126)ATG>ATA p.M42I NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) ACAGGAGTATGATGTTGGAGA 0.393 NaN 0 0 0 0.012319 0 21 96 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NaN 1 0 3.59834e-05 0.021553 3.73339e-05 6 8 PXDN 7837 broad.mit.edu 37 2 1653407 1653407 + Missense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:1653407G>T uc002qxa.2 - 17 2209 c.2145C>A c.(2143-2145)AAC>AAA p.N715K NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 715 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TTGCGATGAGGTTCAGGTACT 0.592 NaN 1 0 7.83172e-31 0.019004 8.68445e-31 37 43 ASXL2 55252 broad.mit.edu 37 2 25978935 25978935 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:25978935C>G uc002rgs.2 - 9 1209 c.988G>C c.(988-990)GAA>CAA p.E330Q ASXL2_uc002rgt.1_Missense_Mutation_p.E70Q NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAAGAATTCATTGTTAAGG 0.448 NaN 0 0 0 0.01441 0 41 93 ASXL2 55252 broad.mit.edu 37 2 25994376 25994376 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:25994376G>A uc002rgs.2 - 5 658 c.437C>T c.(436-438)TCA>TTA p.S146L ASXL2_uc002rgt.1_5'UTR NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 146 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATGGTGGGTGATGGGCAGCC 0.443 NaN 0 0 0 0.010729 0 8 28 ASXL2 55252 broad.mit.edu 37 2 25994388 25994388 + Nonsense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:25994388G>T uc002rgs.2 - 5 646 c.425C>A c.(424-426)TCA>TAA p.S142* ASXL2_uc002rgt.1_5'UTR NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 142 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGCAGCCTGACTGCGGGGA 0.453 NaN 1 0 6.40141e-05 0.010729 6.60626e-05 8 30 OTOF 9381 broad.mit.edu 37 2 26684967 26684967 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:26684967C>T uc002rhk.2 - 42 5402 c.5275G>A c.(5275-5277)GAC>AAC p.D1759N OTOF_uc010yla.1_Missense_Mutation_p.D489N|OTOF_uc002rhh.2_Missense_Mutation_p.D992N|OTOF_uc002rhi.2_Missense_Mutation_p.D1069N|OTOF_uc002rhj.2_Missense_Mutation_p.D992N NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1759 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACGAAGATGTCACTGGACTTC 0.617 NaN 0 0 0 0.01441 0 74 100 DNAJC5G 285126 broad.mit.edu 37 2 27501157 27501157 + Silent SNP G G A rs145408176 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:27501157G>A uc002rjl.1 + 5 895 c.477G>A c.(475-477)GGG>GGA p.G159G SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.G72E|DNAJC5G_uc002rjm.1_Silent_p.G159G NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 159 protein folding membrane heat shock protein binding|unfolded protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGATAGTGGGAGAAAATATC 0.398 NaN 0 0 0 0.004672 0 3 24 FEZ2 9637 broad.mit.edu 37 2 36808439 36808439 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:36808439C>T uc002rph.2 - 4 675 c.628G>A c.(628-630)GAA>AAA p.E210K FEZ2_uc002rpe.2_Missense_Mutation_p.E39K|FEZ2_uc002rpf.2_Missense_Mutation_p.E39K|FEZ2_uc002rpg.2_Missense_Mutation_p.E210K|FEZ2_uc002rpi.2_Missense_Mutation_p.E65K|FEZ2_uc002rpj.2_Missense_Mutation_p.E210K NM_005102 NP_005093 Q9UHY8 FEZ2_HUMAN zygin 2 isoform 1 210 axon guidance|signal transduction protein binding ovary(1) 1 all_hematologic(82;0.21) TTACTCTCTTCATAACTGCCG 0.408 NaN 0 0 0 0.01441 0 90 158 THADA 63892 broad.mit.edu 37 2 43458382 43458382 + Nonsense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:43458382G>C uc002rsw.3 - 38 5919 c.5567C>G c.(5566-5568)TCA>TGA p.S1856* THADA_uc010far.2_Nonsense_Mutation_p.S1051*|THADA_uc002rsx.3_Nonsense_Mutation_p.S1856*|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1856 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GCCGGACTTTGAGAGGAGACA 0.512 NaN 0 0 0 0.016723 0 11 16 WBP1 23559 broad.mit.edu 37 2 74686773 74686773 + Nonsense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:74686773C>T uc002slj.1 + 2 226 c.73C>T c.(73-75)CGA>TGA p.R25* WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Intron|WBP1_uc002sll.1_RNA NM_012477 NP_036609 Q96G27 WBP1_HUMAN WW domain binding protein 1 25 WW domain binding 0 CCCGCAGCTTCGAGAGCTGTG 0.592 NaN 0 0 0 0.01892 0 26 63 LRRTM1 347730 broad.mit.edu 37 2 80529770 80529770 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:80529770G>A uc002sok.1 - 2 1445 c.1175C>T c.(1174-1176)ACC>ATC p.T392I CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 392 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CGCGAGCGTGGTGGCCGAGCT 0.721 NaN HNSCC(69;0.2) 0 0 0 0.004482 0 8 31 CTNNA2 1496 broad.mit.edu 37 2 80646667 80646667 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:80646667G>A uc010ysh.1 + 8 1236 c.1231G>A c.(1231-1233)GAA>AAA p.E411K CTNNA2_uc010yse.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysi.1_Missense_Mutation_p.E43K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 411 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAGCGGAAATGAAAAGGAAGT 0.458 NaN 0 0 0 0.014758 0 4 83 VWA3B 200403 broad.mit.edu 37 2 98846623 98846623 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:98846623G>C uc002syo.2 + 16 2525 c.2261G>C c.(2260-2262)TGG>TCG p.W754S VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.W273S|VWA3B_uc002sym.2_Missense_Mutation_p.W754S|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.W411S|VWA3B_uc002syp.1_Missense_Mutation_p.W146S|VWA3B_uc002syq.1_Missense_Mutation_p.W30S|VWA3B_uc002syr.1_Missense_Mutation_p.W71S NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 754 ovary(3)|large_intestine(2)|skin(1) 6 AAGGGACCATGGGGCCTTTCA 0.413 NaN 0 0 0 0.01892 0 23 36 AFF3 3899 broad.mit.edu 37 2 100210124 100210124 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:100210124C>G uc002tag.2 - 14 2235 c.1999G>C c.(1999-2001)GAG>CAG p.E667Q AFF3_uc002taf.2_Missense_Mutation_p.E692Q|AFF3_uc010fiq.1_Missense_Mutation_p.E667Q|AFF3_uc010yvr.1_Missense_Mutation_p.E820Q|AFF3_uc002tah.1_Missense_Mutation_p.E692Q NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 667 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GACTCTGTCTCAATGAACTCC 0.622 NaN 0 0 0 0.01441 0 47 94 NPAS2 4862 broad.mit.edu 37 2 101580599 101580599 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:101580599C>T uc002tap.1 + 8 964 c.678C>T c.(676-678)TTC>TTT p.F226F NPAS2_uc010yvt.1_Silent_p.F291F NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 226 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 AGGTTTGCTTCATTGCCACCG 0.493 NaN 0 0 0 0.015359 0 33 49 POLR2D 5433 broad.mit.edu 37 2 128605685 128605685 + Missense_Mutation SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:128605685T>C uc002tpj.2 - 4 480 c.425A>G c.(424-426)TAT>TGT p.Y142C uc010fmc.2_5'Flank|POLR2D_uc002tpk.2_Missense_Mutation_p.Y110C NM_004805 NP_004796 O15514 RPB4_HUMAN DNA directed RNA polymerase II polypeptide D 142 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) TGGAGATTAATACTGAAAGCT 0.458 NaN 0 0 0 0.024245 0 14 31 LCT 3938 broad.mit.edu 37 2 136570082 136570082 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:136570082G>A uc002tuu.1 - 7 2163 c.2152C>T c.(2152-2154)CCC>TCC p.P718S NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 718 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GAGGTCTGGGGCCACACATGG 0.517 NaN 0 0 0 0.014323 0 22 41 SCN1A 6323 broad.mit.edu 37 2 166848324 166848324 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:166848324G>C uc010zcz.1 - 26 5446 c.5428C>G c.(5428-5430)CAG>GAG p.Q1810E NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1821 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCCATGAACTGAGTTGCATCG 0.443 NaN 0 0 0 0.010818 0 34 97 TTN 7273 broad.mit.edu 37 2 179400360 179400360 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:179400360C>G uc010zfg.1 - 307 93502 c.93278G>C c.(93277-93279)AGA>ACA p.R31093T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24788T|TTN_uc010zfi.1_Missense_Mutation_p.R24721T|TTN_uc010zfj.1_Missense_Mutation_p.R24596T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32020 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCATCTTTTCTCTCTACCCC 0.433 NaN 0 0 0 0.01441 0 48 95 TTN 7273 broad.mit.edu 37 2 179584463 179584463 + Nonsense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:179584463G>C uc010zfg.1 - 79 20248 c.20024C>G c.(20023-20025)TCA>TGA p.S6675* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.S3336* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7602 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCACTTGGCTGAGAGTTCTGG 0.433 NaN 0 0 0 0.027356 0 29 45 RFTN2 130132 broad.mit.edu 37 2 198498722 198498722 + Splice_Site SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:198498722C>G uc002uuo.3 - 4 841 c.439_splice c.e4-1 p.I147_splice NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 plasma membrane 0 CGACATTAATCTGATATTTAA 0.318 NaN 0 0 0 0.024245 0 16 39 ZDBF2 57683 broad.mit.edu 37 2 207175392 207175392 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:207175392G>A uc002vbp.2 + 5 6390 c.6140G>A c.(6139-6141)CGG>CAG p.R2047Q NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2047 nucleic acid binding|zinc ion binding ovary(3) 3 AAATATAAACGGAATATCTTT 0.358 NaN 0 0 0 0.004482 0 9 19 PLCD4 84812 broad.mit.edu 37 2 219483480 219483480 + Missense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:219483480G>T uc002vij.1 + 4 555 c.360G>T c.(358-360)CAG>CAT p.Q120H PLCD4_uc010zkj.1_Missense_Mutation_p.Q67H|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 120 PH. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GAGGGCTCCAGCTGTTGGTGG 0.602 NaN 1 0 0.000602214 0.014758 0.000618188 4 15 PTPRN 5798 broad.mit.edu 37 2 220161229 220161229 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:220161229C>A uc002vkz.2 - 17 2409 c.2320G>T c.(2320-2322)GAC>TAC p.D774Y PTPRN_uc010zlc.1_Missense_Mutation_p.D684Y|PTPRN_uc002vla.2_Missense_Mutation_p.D745Y|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 774 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) ATCCGAGGGTCATGCTCAATC 0.592 NaN 1 0 3.41278e-10 0.00499 3.66874e-10 17 39 DOCK10 55619 broad.mit.edu 37 2 225670030 225670030 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:225670030C>G uc010fwz.1 - 36 4183 c.3944G>C c.(3943-3945)AGA>ACA p.R1315T DOCK10_uc002vob.2_Missense_Mutation_p.R1309T|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.R169T NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1315 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGACAAGGGTCTTGGGATCTG 0.418 NaN 0 0 0 0.00874 0 40 52 SPHKAP 80309 broad.mit.edu 37 2 228881535 228881535 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:228881535C>G uc002vpq.2 - 7 4082 c.4035G>C c.(4033-4035)GAG>GAC p.E1345D SPHKAP_uc002vpp.2_Missense_Mutation_p.E1345D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1345D NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1345 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) TTGCACACTTCTCTGCTTGCG 0.512 NaN 0 0 0 0.007413 0 20 50 GPR55 9290 broad.mit.edu 37 2 231775157 231775157 + Missense_Mutation SNP T T A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:231775157T>A uc002vrg.2 - 2 714 c.521A>T c.(520-522)GAT>GTT p.D174V GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.D174V NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 174 Extracellular (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) CCAGGTATCATCAGACATGTT 0.532 NaN 0 0 0 0.01441 0 49 58 HJURP 55355 broad.mit.edu 37 2 234749700 234749700 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:234749700G>A uc002vvg.2 - 8 1792 c.1726C>T c.(1726-1728)CGT>TGT p.R576C HJURP_uc010znd.1_Missense_Mutation_p.R515C|HJURP_uc010zne.1_Missense_Mutation_p.R484C NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 576 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TCATCGTAACGATTCCTTCCG 0.413 NaN 0 0 0 0.010818 0 32 59 COL6A3 1293 broad.mit.edu 37 2 238277457 238277457 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:238277457C>T uc002vwl.2 - 10 4934 c.4649G>A c.(4648-4650)GGA>GAA p.G1550E COL6A3_uc002vwo.2_Missense_Mutation_p.G1344E|COL6A3_uc010znj.1_Missense_Mutation_p.G943E NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1550 VWFA 8.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGGGATTTTCCACCCAGGAC 0.562 NaN 0 0 0 0.007291 0 30 86 HDAC4 9759 broad.mit.edu 37 2 240036766 240036766 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:240036766C>G uc002vyk.3 - 13 2551 c.1759G>C c.(1759-1761)GAG>CAG p.E587Q HDAC4_uc010fyz.1_Missense_Mutation_p.E582Q|HDAC4_uc010zoa.1_Missense_Mutation_p.E587Q|HDAC4_uc010fza.2_Missense_Mutation_p.E592Q|HDAC4_uc010fyy.2_Missense_Mutation_p.E544Q|HDAC4_uc010znz.1_Missense_Mutation_p.E470Q NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 587 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) AAGAGCAGCTCCTGCTCACTG 0.677 NaN 0 0 0 0.01892 0 24 30 PASK 23178 broad.mit.edu 37 2 242066101 242066101 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:242066101G>C uc002wao.1 - 10 2321 c.2229C>G c.(2227-2229)CTC>CTG p.L743L PASK_uc010zol.1_Silent_p.L557L|PASK_uc010zom.1_Silent_p.L708L|PASK_uc010fzl.1_Silent_p.L743L|PASK_uc010zon.1_Silent_p.L524L|PASK_uc002wap.2_Silent_p.L286L|PASK_uc002waq.2_Silent_p.L743L NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 743 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AGAGTTCCTTGAGGTTCCAGG 0.547 NaN 0 0 0 0.027356 0 27 41 PASK 23178 broad.mit.edu 37 2 242066280 242066280 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:242066280G>A uc002wao.1 - 10 2142 c.2050C>T c.(2050-2052)CCG>TCG p.P684S PASK_uc010zol.1_Missense_Mutation_p.P498S|PASK_uc010zom.1_Missense_Mutation_p.P649S|PASK_uc010fzl.1_Missense_Mutation_p.P684S|PASK_uc010zon.1_Missense_Mutation_p.P465S|PASK_uc002wap.2_Missense_Mutation_p.P227S|PASK_uc002waq.2_Missense_Mutation_p.P684S NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 684 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CACTCTGTCGGAACGAGTTCG 0.622 NaN 0 0 0 0.01441 0 64 82 HDLBP 3069 broad.mit.edu 37 2 242192385 242192385 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr2:242192385C>G uc002waz.2 - 11 1587 c.1359G>C c.(1357-1359)AAG>AAC p.K453N HDLBP_uc002wba.2_Missense_Mutation_p.K453N|HDLBP_uc002wbb.2_Missense_Mutation_p.K405N NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 453 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TGGCACCGCTCTTCCCAATGA 0.582 NaN 0 0 0 0.020292 0 13 74 RIN2 54453 broad.mit.edu 37 20 19941346 19941346 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr20:19941346C>G uc002wro.1 + 4 390 c.354C>G c.(352-354)ATC>ATG p.I118M RIN2_uc010gcu.1_Missense_Mutation_p.I118M|RIN2_uc010gcv.1_Translation_Start_Site NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 118 SH2. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 TCCACTAGATCTTCCTGGTTC 0.438 NaN 0 0 0 0.004672 0 3 7 EMILIN3 90187 broad.mit.edu 37 20 39990777 39990777 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr20:39990777C>T uc002xjy.1 - 4 1656 c.1432G>A c.(1432-1434)GAG>AAG p.E478K NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 478 Potential. proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) AGGCGCTCCTCGAGGCTCTGC 0.637 NaN 0 0 0 0.020292 0 14 62 NCOA3 8202 broad.mit.edu 37 20 46265061 46265061 + Nonsense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr20:46265061C>G uc002xtk.2 + 12 2136 c.1931C>G c.(1930-1932)TCA>TGA p.S644* NCOA3_uc010ght.1_Nonsense_Mutation_p.S654*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.S644*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.S644*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.S644*|NCOA3_uc010zyc.1_Nonsense_Mutation_p.S439* NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 644 Ser-rich. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CCCCTAGATTCAAGTTGTAAA 0.463 NaN 0 0 0 0.023175 0 39 63 CSE1L 1434 broad.mit.edu 37 20 47691370 47691370 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr20:47691370G>C uc002xty.2 + 11 1249 c.1115G>C c.(1114-1116)AGA>ACA p.R372T CSE1L_uc010zyg.1_Missense_Mutation_p.R155T|CSE1L_uc010ghx.2_Missense_Mutation_p.R316T|CSE1L_uc010ghy.2_Missense_Mutation_p.R21T|CSE1L_uc010zyh.1_Missense_Mutation_p.R21T NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 372 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TACATAAGGAGAGATTTGGAA 0.388 NaN 0 0 0 0.00499 0 18 33 LAMA5 3911 broad.mit.edu 37 20 60891982 60891982 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr20:60891982C>T uc002ycq.2 - 56 7676 c.7609G>A c.(7609-7611)GAT>AAT p.D2537N NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2537 Potential.|Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGCAGCATCCTCGGCAGCC 0.697 NaN 0 0 0 0.009096 0 4 14 MORC3 23515 broad.mit.edu 37 21 37710178 37710178 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr21:37710178C>G uc002yvi.2 + 4 470 c.394C>G c.(394-396)CAG>GAG p.Q132E NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 132 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 CCTTTTGTCTCAGACCTACTT 0.428 NaN 0 0 0 0.013114 0 41 87 PIGP 51227 broad.mit.edu 37 21 38444858 38444858 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr21:38444858C>T uc002yvw.1 - 1 246 c.30G>A c.(28-30)CTG>CTA p.L10L TTC3_uc002yvz.2_5'Flank|TTC3_uc011aee.1_5'Flank|PIGP_uc002yvy.1_Intron|PIGP_uc002yvx.1_Intron|TTC3_uc011aed.1_5'Flank|TTC3_uc010gne.1_5'Flank NM_153681 NP_710148 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, 10 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity 0 Myeloproliferative disorder(46;0.0412) GGAACACAATCAGCGCCAGCG 0.577 NaN 0 0 0 0.007835 0 34 133 COL18A1 80781 broad.mit.edu 37 21 46925183 46925183 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr21:46925183C>T uc011afs.1 + 35 4261 c.4240C>T c.(4240-4242)CAC>TAC p.H1414Y COL18A1_uc002zhg.2_Missense_Mutation_p.H999Y|COL18A1_uc002zhi.2_Missense_Mutation_p.H1179Y|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1417 Nonhelical region 10 (NC10). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCCTGGCCCTCACAGGCAGAG 0.697 NaN 0 0 0 0.014758 0 5 12 TXNRD2 10587 broad.mit.edu 37 22 19864662 19864662 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:19864662C>A uc011ahc.1 - 17 1574 c.1541G>T c.(1540-1542)GGC>GTC p.G514V TXNRD2_uc002zql.1_Missense_Mutation_p.G268V|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.G513V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.G164V NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 514 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) GGGGTCCAGGCCTGAGCGCTT 0.667 NaN 1 0 1.36491e-13 0.016723 1.49215e-13 12 6 ARVCF 421 broad.mit.edu 37 22 19959927 19959927 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:19959927C>G uc002zqz.2 - 17 2920 c.2649G>C c.(2647-2649)GAG>GAC p.E883D ARVCF_uc002zqy.2_Missense_Mutation_p.E399D NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 883 cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) TGCCAGTTTTCTCGCCCTCTG 0.647 NaN 0 0 0 0.004482 0 8 31 RTDR1 27156 broad.mit.edu 37 22 23482515 23482515 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:23482515C>T uc002zwt.2 - 2 251 c.93G>A c.(91-93)CTG>CTA p.L31L RTDR1_uc010gtv.1_Silent_p.L31L NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 31 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GCTCCTCCTTCAGCTTGGGCA 0.562 NaN 0 0 0 0.00308 0 7 22 TBC1D10A 83874 broad.mit.edu 37 22 30722669 30722669 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:30722669C>T uc011akt.1 - 1 226 c.202G>A c.(202-204)GAG>AAG p.E68K TBC1D10A_uc010gvu.2_Missense_Mutation_p.E68K|TBC1D10A_uc003ahk.3_Missense_Mutation_p.E68K NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 68 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CACGCGCCCTCGGCGCCCTGC 0.716 NaN 0 0 0 0.014758 0 4 20 CACNG2 10369 broad.mit.edu 37 22 36960929 36960929 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:36960929C>T uc003aps.1 - 4 723 c.441G>A c.(439-441)CTG>CTA p.L147L NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 147 Helical; (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 TGATGTTACTCAGACCTGCGG 0.557 NaN 0 0 0 0.01441 0 71 99 RPL3 6122 broad.mit.edu 37 22 39708981 39708981 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:39708981C>T uc003axi.2 - 10 1244 c.1176G>A c.(1174-1176)CTG>CTA p.L392L RPL3_uc003axh.2_Silent_p.L343L|RPL3_uc003axj.2_Silent_p.L240L|RPL3_uc010gxx.2_Silent_p.L300L|RPL3_uc003axg.2_Silent_p.L340L NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 392 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) GGTCTTTCTTCAGTGGTCCCT 0.498 NaN 0 0 0 0.00308 0 8 27 TNFRSF13C 115650 broad.mit.edu 37 22 42321519 42321519 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:42321519C>T uc003bbl.2 - 3 451 c.407G>A c.(406-408)GGA>GAA p.G136E WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.G137E NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 136 Cytoplasmic (Potential). integral to membrane receptor activity 0 ATCAGAGATTCCCGGAGACAG 0.637 NaN 0 0 0 0.021523 0 23 55 A4GALT 53947 broad.mit.edu 37 22 43089310 43089310 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:43089310G>A uc003bdb.2 - 3 909 c.648C>T c.(646-648)CTC>CTT p.L216L A4GALT_uc010gzd.2_Silent_p.L216L NM_017436 NP_059132 Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 216 Lumenal (Potential). glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity central_nervous_system(2) 2 ACGCGCCGTTGAGGACGTAGC 0.617 NaN 0 0 0 0.013537 0 11 32 BIK 638 broad.mit.edu 37 22 43520163 43520163 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:43520163C>T uc003bdk.2 + 2 195 c.135C>T c.(133-135)TTC>TTT p.F45F NM_001197 NP_001188 Q13323 BIK_HUMAN BCL2-interacting killer 45 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane 0 Ovarian(80;0.0694) TGGAGGACTTCGATTCTTTGG 0.567 NaN 0 0 0 0.017118 0 33 62 EFCAB6 64800 broad.mit.edu 37 22 43972201 43972201 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:43972201C>T uc003bdy.1 - 26 3611 c.3396G>A c.(3394-3396)CAG>CAA p.Q1132Q EFCAB6_uc003bdz.1_Silent_p.Q980Q|EFCAB6_uc010gzi.1_Silent_p.Q980Q|EFCAB6_uc010gzj.1_Silent_p.Q358Q NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AGCTAAAGTTCTGGAGAAAAT 0.313 NaN 0 0 0 0.016723 0 11 37 GTSE1 51512 broad.mit.edu 37 22 46725395 46725395 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr22:46725395G>C uc011aqy.1 + 11 2279 c.2067G>C c.(2065-2067)CTG>CTC p.L689L GTSE1_uc011aqz.1_Silent_p.L536L|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 670 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GCAGGCCTCTGATCGACCTCA 0.527 NaN 0 0 0 0.007835 0 43 80 ZFYVE20 64145 broad.mit.edu 37 3 15124021 15124021 + Silent SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:15124021G>T uc003bzm.1 - 9 1307 c.693C>A c.(691-693)ATC>ATA p.I231I ZFYVE20_uc010hek.1_Silent_p.I231I|ZFYVE20_uc011avn.1_Intron NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 231 FYVE-type.|Ser-rich.|Necessary for the correct targeting to endosomes. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 TCATGCTGCTGATGCTGCCTC 0.602 NaN 1 0 2.21704e-12 0.016522 2.41688e-12 20 20 OSBPL10 114884 broad.mit.edu 37 3 31710301 31710301 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:31710301C>T uc003cev.2 - 11 2310 c.1929G>A c.(1927-1929)GTG>GTA p.V643V OSBPL10_uc003ceu.1_Silent_p.V400V|OSBPL10_uc011axf.1_Silent_p.V579V NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 643 lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) GGTTGTGCTTCACTTCTGCGG 0.393 NaN 0 0 0 0.013114 0 44 36 ZNF167 55888 broad.mit.edu 37 3 44612209 44612209 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:44612209G>C uc010hin.2 + 6 1995 c.1607G>C c.(1606-1608)AGA>ACA p.R536T ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R536T|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 536 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) TGTTCCAATAGAAATCTCATT 0.438 NaN 0 0 0 0.025465 0 39 27 PTH1R 5745 broad.mit.edu 37 3 46939420 46939420 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:46939420C>T uc003cqm.2 + 6 592 c.389C>T c.(388-390)CCC>CTC p.P130L PTH1R_uc003cqn.2_Missense_Mutation_p.P130L NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 130 Extracellular (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 GTGGCTGTGCCCTGTCCGGAC 0.607 NaN Ollier_disease_/_Maffuci_syndrome 0 0 0 0.007413 0 20 15 P4HTM 54681 broad.mit.edu 37 3 49043565 49043565 + Silent SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:49043565C>G uc003cvg.2 + 8 1582 c.1233C>G c.(1231-1233)GTC>GTG p.V411V P4HTM_uc003cvh.2_Silent_p.V472V|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 411 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) ACCTGCGTGTCAAGCCCCAAC 0.612 NaN 0 0 0 0.009535 0 32 36 LAMB2 3913 broad.mit.edu 37 3 49161498 49161498 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:49161498G>A uc003cwe.2 - 24 3759 c.3460C>T c.(3460-3462)CAG>TAG p.Q1154* NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1154 Laminin EGF-like 13. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGGTGACACTGAGGTGTATCT 0.562 NaN 0 0 0 0.016723 0 13 11 NISCH 11188 broad.mit.edu 37 3 52526262 52526262 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:52526262C>T uc011beg.1 + 22 4351 c.4279C>T c.(4279-4281)CCG>TCG p.P1427S NISCH_uc003ded.3_Missense_Mutation_p.P1427S|NISCH_uc003dee.3_Missense_Mutation_p.P916S|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.P176S NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1427 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCAGACCTACCCGCAGGCCCT 0.652 NaN 0 0 0 0.01441 0 67 65 SLMAP 7871 broad.mit.edu 37 3 57827095 57827095 + Nonsense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:57827095C>G uc003dje.1 + 3 621 c.416C>G c.(415-417)TCA>TGA p.S139* SLMAP_uc003djc.1_Nonsense_Mutation_p.S139*|SLMAP_uc003djd.1_Nonsense_Mutation_p.S139*|SLMAP_uc003djf.1_Nonsense_Mutation_p.S139* NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 139 Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential). muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CGGCTCCGCTCAGAGTGAGTA 0.358 NaN 0 0 0 0.00308 0 6 35 ZDHHC23 254887 broad.mit.edu 37 3 113673211 113673211 + Silent SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:113673211C>A uc003eau.2 + 3 1125 c.826C>A c.(826-828)CGG>AGG p.R276R ZDHHC23_uc003eav.2_Silent_p.R270R NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 276 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 ATGGCACTGCCGGATATGTGG 0.517 NaN 1 0 1.12685e-05 0.004482 1.17862e-05 9 22 HCLS1 3059 broad.mit.edu 37 3 121354589 121354589 + Missense_Mutation SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:121354589T>C uc003eeh.3 - 9 809 c.684A>G c.(682-684)ATA>ATG p.I228M HCLS1_uc011bjj.1_Missense_Mutation_p.I191M|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 228 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) CACCGGCTTCTATGGGCGTCG 0.522 NaN 0 0 0 0.01441 0 46 49 PARP9 83666 broad.mit.edu 37 3 122247537 122247537 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:122247537C>T uc010hri.2 - 11 2384 c.2239G>A c.(2239-2241)GAG>AAG p.E747K PARP9_uc003eff.3_Missense_Mutation_p.E712K|PARP9_uc011bjs.1_Missense_Mutation_p.E712K|PARP9_uc003efg.2_Missense_Mutation_p.E292K|PARP9_uc003efi.2_Missense_Mutation_p.E712K|PARP9_uc003efh.2_Missense_Mutation_p.E747K NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 747 PARP catalytic. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) TTGGCCTTCTCTGCCAGGTTT 0.373 NaN 0 0 0 0.010771 0 42 68 HEG1 57493 broad.mit.edu 37 3 124738228 124738228 + Nonsense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:124738228G>C uc003ehs.3 - 5 1534 c.1466C>G c.(1465-1467)TCA>TGA p.S489* HEG1_uc011bke.1_Nonsense_Mutation_p.S489* NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 489 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane calcium ion binding ovary(2) 2 AGTAGAGTCTGAGAACTGGGT 0.463 NaN 0 0 0 0.021022 0 39 164 CCDC48 79825 broad.mit.edu 37 3 128753034 128753034 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:128753034C>T uc011bkt.1 + 5 1311 c.1311C>T c.(1309-1311)CTC>CTT p.L437L NM_024768 NP_079044 Q9HA90 CCD48_HUMAN coiled-coil domain containing 48 437 0 CGGAGAAGCTCATGACTTACT 0.622 NaN 0 0 0 0.01892 0 23 56 COPG 22820 broad.mit.edu 37 3 128982840 128982840 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:128982840G>C uc003els.2 + 13 1322 c.1222G>C c.(1222-1224)GAG>CAG p.E408Q COPG_uc010htb.2_Missense_Mutation_p.E314Q NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 408 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 GCTGCGGGAAGAGGTAAGAGT 0.547 NaN 0 0 0 0.008291 0 10 18 C3orf37 56941 broad.mit.edu 37 3 129023617 129023617 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:129023617G>A uc003elt.2 + 7 1102 c.1014G>A c.(1012-1014)CTG>CTA p.L338L C3orf37_uc003elu.2_Silent_p.L296L|C3orf37_uc003elv.2_Silent_p.L338L|C3orf37_uc003elw.2_Silent_p.L338L NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 338 ovary(1) 1 AGCAATGGCTGAAGCGGGAGA 0.562 NaN 0 0 0 0.006122 0 19 18 PPP2R3A 5523 broad.mit.edu 37 3 135721655 135721655 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:135721655C>T uc003eqv.1 + 2 1880 c.1315C>T c.(1315-1317)CAT>TAT p.H439Y PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 439 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 TGGACCTAGTCATGAGTTATT 0.348 NaN 0 0 0 0.021022 0 36 63 KIAA0226 9711 broad.mit.edu 37 3 197408132 197408132 + Nonsense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:197408132C>T uc003fyc.2 - 16 2481 c.2298G>A c.(2296-2298)TGG>TGA p.W766* KIAA0226_uc003fyd.3_Nonsense_Mutation_p.W721*|KIAA0226_uc003fye.1_Nonsense_Mutation_p.W498* NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 766 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TGCTGAAGTCCCACTTGCGCA 0.537 NaN 0 0 0 0.021553 0 5 134 FGFR3 2261 broad.mit.edu 37 4 1806119 1806119 + Missense_Mutation SNP G G A rs28931614 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:1806119G>A uc003gdr.3 + 9 1394 c.1138G>A c.(1138-1140)GGG>AGG p.G380R FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 380 Helical; (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G380R(15)|p.G380E(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTCAGCTACGGGGTGGGCTT 0.672 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.01441 0 156 222 WHSC1 7468 broad.mit.edu 37 4 1957529 1957529 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:1957529G>A uc003gdz.3 + 14 2804 c.2628G>A c.(2626-2628)AAG>AAA p.K876K WHSC1_uc003geb.3_Silent_p.K876K|WHSC1_uc003gec.3_Silent_p.K876K|WHSC1_uc003ged.3_Silent_p.K876K|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.K95K|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Silent_p.K224K NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 876 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGCTGGGAAGAAGCTGCACT 0.507 NaN T IGH@ MM 0 0 0 0.028581 0 17 34 ZBTB49 166793 broad.mit.edu 37 4 4317400 4317400 + Missense_Mutation SNP A A T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:4317400A>T uc003ghu.2 + 6 1589 c.1414A>T c.(1414-1416)ATT>TTT p.I472F ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Intron NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 472 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TCACATTATTATTCACTCAGG 0.393 NaN 0 0 0 0.016522 0 21 29 BST1 683 broad.mit.edu 37 4 15716979 15716979 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:15716979C>G uc003goh.3 + 5 801 c.606C>G c.(604-606)ATC>ATG p.I202M BST1_uc003goi.2_Missense_Mutation_p.I13M NM_004334 NP_004325 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 precursor 202 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1) 1 CCTATCCCATCAAAGGGTAAG 0.388 NaN 0 0 0 0.010729 0 10 22 STIM2 57620 broad.mit.edu 37 4 26959236 26959236 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:26959236C>T uc003gsh.3 + 3 762 c.546C>T c.(544-546)TTC>TTT p.F182F STIM2_uc003gsg.3_Silent_p.F182F|STIM2_uc010iex.2_Silent_p.F182F NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 95 EF-hand.|Extracellular (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) TTCTATAGTTCATCAGAGAAG 0.308 NaN 0 0 0 0.00499 0 18 70 GABRB1 2560 broad.mit.edu 37 4 47322172 47322172 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:47322172G>C uc003gxh.2 + 5 864 c.490G>C c.(490-492)GAT>CAT p.D164H GABRB1_uc011bze.1_Missense_Mutation_p.D94H NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 164 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATGTATGATGGATCTTCGAAG 0.423 NaN 0 0 0 0.028581 0 15 43 C4orf14 84273 broad.mit.edu 37 4 57829697 57829697 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:57829697C>G uc003hck.2 - 7 2091 c.2016G>C c.(2014-2016)AAG>AAC p.K672N NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 672 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) CCACACTTTTCTTGATGCGCT 0.458 NaN 0 0 0 0.01441 0 68 121 EPHA5 2044 broad.mit.edu 37 4 66230766 66230766 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:66230766G>A uc003hcy.2 - 12 2398 c.2205C>T c.(2203-2205)AAC>AAT p.N735N EPHA5_uc003hcx.2_Silent_p.N667N|EPHA5_uc003hcz.2_Silent_p.N713N|EPHA5_uc011cah.1_Silent_p.N736N|EPHA5_uc011cai.1_Silent_p.N714N|EPHA5_uc003hda.2_Silent_p.N736N NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 735 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AATGGATGATGTTAGGATGAT 0.363 NaN TSP Lung(17;0.13) 0 0 0 0.01441 0 49 69 TMPRSS11F 389208 broad.mit.edu 37 4 68930646 68930646 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:68930646G>C uc003hdt.1 - 8 821 c.772C>G c.(772-774)CAA>GAA p.Q258E LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 258 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GCAATCCATTGAGTTGGGTCT 0.338 NaN 0 0 0 0.028581 0 17 28 C4orf17 84103 broad.mit.edu 37 4 100463168 100463168 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:100463168C>G uc003huw.2 + 9 1305 c.982C>G c.(982-984)CAG>GAG p.Q328E C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 328 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) GCCTAACACTCAGGAGAGTGG 0.433 NaN 0 0 0 0.020292 0 14 50 SLC39A8 64116 broad.mit.edu 37 4 103228665 103228665 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:103228665C>A uc003hwb.1 - 3 1009 c.480G>T c.(478-480)AAG>AAT p.K160N SLC39A8_uc011ceo.1_Missense_Mutation_p.K160N|SLC39A8_uc003hwa.1_Missense_Mutation_p.K93N|SLC39A8_uc003hwc.2_Missense_Mutation_p.K160N NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), 160 Extracellular (Potential). integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) AGGTCAAAATCTTTGGGAAAT 0.388 NaN 1 0 2.05175e-36 0.01441 2.28169e-36 72 125 KIAA1109 84162 broad.mit.edu 37 4 123192861 123192861 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:123192861G>A uc003ieh.2 + 45 8227 c.8182G>A c.(8182-8184)GAA>AAA p.E2728K KIAA1109_uc003iel.1_Missense_Mutation_p.E663K|KIAA1109_uc003iek.2_Missense_Mutation_p.E1347K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2728 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AAAGTCTTCAGAAACATTTGG 0.338 NaN 0 0 0 0.008291 0 11 36 NR3C2 4306 broad.mit.edu 37 4 149357276 149357276 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:149357276G>C uc003ilj.3 - 2 1071 c.737C>G c.(736-738)TCC>TGC p.S246C NR3C2_uc003ilk.3_Missense_Mutation_p.S246C|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 246 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GTGCGACCTGGAGCCTCGATT 0.537 NaN 0 0 0 0.021523 0 24 45 FAM198B 51313 broad.mit.edu 37 4 159092463 159092463 + Missense_Mutation SNP C C G rs148186776 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:159092463C>G uc003ipp.3 - 2 517 c.65G>C c.(64-66)CGG>CCG p.R22P uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22P|FAM198B_uc003ipr.3_Missense_Mutation_p.R22P|FAM198B_uc003ips.2_Missense_Mutation_p.R22P|uc003ipt.1_RNA NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 22 Cytoplasmic (Potential). Golgi membrane|integral to membrane 0 CTTACGCACCCGCGGGACGCA 0.587 NaN 0 0 0 0.024245 0 14 54 RAPGEF2 9693 broad.mit.edu 37 4 160273906 160273906 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:160273906G>A uc003iqg.3 + 21 3762 c.3452G>A c.(3451-3453)CGA>CAA p.R1151Q NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1151 Ser-rich. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ATTTCTTCACGATCCAGTATT 0.433 NaN 0 0 0 0.024334 0 24 50 HELT 391723 broad.mit.edu 37 4 185941474 185941474 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:185941474G>C uc011ckq.1 + 4 532 c.532G>C c.(532-534)GAG>CAG p.E178Q HELT_uc011cko.1_Missense_Mutation_p.E93Q|HELT_uc003ixa.3_Missense_Mutation_p.E92Q|HELT_uc011ckp.1_Missense_Mutation_p.E36Q NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 178 Orange. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TGGCTACCACGAGTGCATGAA 0.577 NaN 0 0 0 0.027356 0 26 69 TRIML2 205860 broad.mit.edu 37 4 189026057 189026057 + Silent SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr4:189026057C>G uc003izl.2 - 2 105 c.69G>C c.(67-69)TCG>TCC p.S23S TRIML2_uc011cle.1_Silent_p.S73S|TRIML2_uc011clf.1_Silent_p.S73S NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 23 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GTTTCTCCCTCGATGTGTTCA 0.403 NaN 0 0 0 0.027356 0 27 88 AMACR 23600 broad.mit.edu 37 5 34008107 34008107 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:34008107G>C uc003jig.2 - 1 100 c.18C>G c.(16-18)ATC>ATG p.I6M AMACR_uc003jih.2_Missense_Mutation_p.I6M|AMACR_uc003jii.2_Missense_Mutation_p.I6M|AMACR_uc003jij.2_Missense_Mutation_p.I6M|AMACR_uc003jil.1_Missense_Mutation_p.I6M|AMACR_uc003jik.1_Missense_Mutation_p.I6M NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 6 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 CCACGACCGAGATGCCCTGCA 0.672 NaN 0 0 0 0.021553 0 3 12 WDR70 55100 broad.mit.edu 37 5 37605251 37605251 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:37605251C>T uc003jkv.2 + 10 1061 c.1003C>T c.(1003-1005)CCC>TCC p.P335S WDR70_uc010iva.1_Missense_Mutation_p.P335S NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 335 WD 4. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAAGTCATTCCCACTACGTG 0.423 NaN 0 0 0 0.00308 0 8 77 FBXO4 26272 broad.mit.edu 37 5 41929935 41929935 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:41929935G>A uc003jmq.2 + 3 618 c.562G>A c.(562-564)GAA>AAA p.E188K FBXO4_uc003jmp.2_Missense_Mutation_p.E188K|FBXO4_uc003jmr.2_Missense_Mutation_p.E188K NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 188 E -> Q (in Ref. 1; AAF04468). positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) AGGTTTGGAAGAATTGAATAC 0.418 NaN 0 0 0 0.01441 0 78 110 HMGCS1 3157 broad.mit.edu 37 5 43295898 43295898 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:43295898C>T uc003jnr.3 - 6 1068 c.861G>A c.(859-861)CAG>CAA p.Q287Q HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Silent_p.Q287Q NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 287 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 TATCTCTATTCTGGTCATTAA 0.358 NaN 0 0 0 0.01441 0 59 72 ANKRD34B 340120 broad.mit.edu 37 5 79855427 79855427 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:79855427G>A uc010jam.2 - 4 762 c.412C>T c.(412-414)CTT>TTT p.L138F ANKRD34B_uc003kgw.2_Missense_Mutation_p.L138F|ANKRD34B_uc010jan.2_Missense_Mutation_p.L138F NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 138 ANK 4. cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CAAGCACTAAGAAGAACTTTC 0.428 NaN 0 0 0 0.024245 0 16 174 FAM174A 345757 broad.mit.edu 37 5 99897787 99897787 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:99897787G>C uc003knj.1 + 2 584 c.464G>C c.(463-465)AGA>ACA p.R155T NM_198507 NP_940909 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 155 Cytoplasmic (Potential). integral to membrane 0 AAGACTAGGAGATATGGAGTT 0.269 NaN 0 0 0 0.010729 0 12 33 PRR16 51334 broad.mit.edu 37 5 120021694 120021694 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:120021694G>A uc003ksq.2 + 2 368 c.205G>A c.(205-207)GAT>AAT p.D69N PRR16_uc003ksp.2_Missense_Mutation_p.D46N|PRR16_uc003ksr.2_5'UTR NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 69 Potential. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) ACAGCTGGAGGATGAGATGAC 0.473 NaN 0 0 0 0.006214 0 10 46 SLC22A4 6583 broad.mit.edu 37 5 131679478 131679478 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:131679478G>C uc003kwq.2 + 10 1771 c.1606G>C c.(1606-1608)GAC>CAC p.D536H uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 536 Cytoplasmic (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) AAAAACAAGAGACTCAATGGA 0.338 NaN 0 0 0 0.006214 0 9 41 BRD8 10902 broad.mit.edu 37 5 137506551 137506551 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:137506551C>G uc003lcf.1 - 6 465 c.410G>C c.(409-411)AGA>ACA p.R137T BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Missense_Mutation_p.R137T|BRD8_uc003lci.2_Missense_Mutation_p.R137T|BRD8_uc003lch.2_5'UTR|BRD8_uc011cym.1_Missense_Mutation_p.R121T|BRD8_uc010jer.1_Missense_Mutation_p.R106T|BRD8_uc011cyn.1_Missense_Mutation_p.R96T|BRD8_uc010jes.1_Missense_Mutation_p.R4T NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 137 Potential. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTCATCCAGTCTGCTGTCCAT 0.403 NaN 0 0 0 0.01441 0 55 22 PCDHB2 56133 broad.mit.edu 37 5 140476448 140476448 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:140476448C>T uc003lil.2 + 1 2212 c.2074C>T c.(2074-2076)CTG>TTG p.L692L PCDHB2_uc003lim.1_Silent_p.L353L NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 692 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGTCTACCTGGTGGTGGC 0.697 NaN 0 0 0 0.024334 0 10 181 PCDHB3 56132 broad.mit.edu 37 5 140482301 140482301 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:140482301C>T uc003lio.2 + 1 2068 c.2068C>T c.(2068-2070)CTG>TTG p.L690L uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 690 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGTCTACCTGGTGGTGGC 0.682 NaN 0 0 0 0.007413 0 7 132 PCDHB9 56127 broad.mit.edu 37 5 140567183 140567183 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:140567183C>T uc003liw.1 + 1 291 c.291C>T c.(289-291)GGC>GGT p.G97G NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 97 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTGTGTGGCCCTAAAGAGC 0.458 NaN 0 0 0 0.015359 0 27 28 PCDHGA4 56111 broad.mit.edu 37 5 140736303 140736303 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:140736303G>A uc003ljq.1 + 1 1536 c.1536G>A c.(1534-1536)GGG>GGA p.G512G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.G512G NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 512 Extracellular (Potential).|Cadherin 5. 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) CCAATACAGGGATCCTATATG 0.527 NaN 0 0 0 0.013726 0 33 117 PCDHGC3 5098 broad.mit.edu 37 5 140856170 140856170 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:140856170G>A uc003lkv.1 + 1 602 c.487G>A c.(487-489)GAT>AAT p.D163N 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_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D163N|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 163 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACGATCCCGATGTGGGAAG 0.567 NaN 0 0 0 0.008871 0 18 55 SPINK9 643394 broad.mit.edu 37 5 147715197 147715197 + Silent SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:147715197C>G uc003lpe.1 + 1 76 c.21C>G c.(19-21)GTC>GTG p.V7V uc003lpb.1_Intron NM_001040433 NP_001035523 Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 7 extracellular region protein binding|serine-type endopeptidase inhibitor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCCATAGTCCTACTCTTGG 0.483 NaN 0 0 0 0.014323 0 22 47 CSF1R 1436 broad.mit.edu 37 5 149437110 149437110 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:149437110C>T uc003lrl.2 - 15 2373 c.2178G>A c.(2176-2178)ATG>ATA p.M726I CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.M726I NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 726 Protein kinase.|Cytoplasmic (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) AGACAGGCCTCATCTCCACAT 0.552 NaN 0 0 0 0.001984 0 7 22 NSD1 64324 broad.mit.edu 37 5 176721219 176721219 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:176721219G>C uc003mfr.3 + 23 6988 c.6850G>C c.(6850-6852)GAG>CAG p.E2284Q NSD1_uc003mft.3_Missense_Mutation_p.E2015Q|NSD1_uc011dfx.1_Missense_Mutation_p.E1932Q NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2284 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAGACCTCTTGAGAGAACTGA 0.537 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.01441 0 42 111 GRM6 2916 broad.mit.edu 37 5 178410024 178410024 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr5:178410024C>T uc003mjr.2 - 9 2502 c.2323G>A c.(2323-2325)GTG>ATG p.V775M GRM6_uc003mjq.2_Missense_Mutation_p.V178M NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 775 Cytoplasmic (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GTCTCGGGCACGCCACGGGCC 0.597 NaN 0 0 0 0.00499 0 17 47 HIVEP1 3096 broad.mit.edu 37 6 12164682 12164682 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:12164682G>A uc003nac.2 + 9 8324 c.8145G>A c.(8143-8145)GTG>GTA p.V2715V HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2715 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACAGGCTTGTGATAGCAACCT 0.448 NaN 0 0 0 0.008291 0 10 31 HIST1H2BL 8340 broad.mit.edu 37 6 27775562 27775562 + Nonsense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:27775562G>C uc003njl.2 - 1 148 c.123C>G c.(121-123)TAC>TAG p.Y41* HIST1H3H_uc003njm.2_5'Flank NM_003519 NP_003510 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 41 nucleosome assembly nucleosome|nucleus DNA binding 0 CCTTGTACACGTACACGGAGT 0.587 NaN 0 0 0 0.01441 0 61 130 ZKSCAN3 80317 broad.mit.edu 37 6 28327555 28327555 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:28327555G>A uc003nle.3 + 2 408 c.192G>A c.(190-192)CTG>CTA p.L64L ZKSCAN3_uc010jrc.2_Silent_p.L64L|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 64 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 GCGAGGCGCTGAGTCGGCTCC 0.657 NaN 0 0 0 0.008361 0 30 67 ZFP57 346171 broad.mit.edu 37 6 29641454 29641454 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:29641454C>A uc011dlw.1 - 4 585 c.434G>T c.(433-435)TGC>TTC p.C145F ZFP57_uc003nnl.3_Missense_Mutation_p.C125F NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 GGCCCCTCTGCATGCAAGGAA 0.552 NaN 1 0 1.56793e-16 0.01441 1.72874e-16 47 80 CDKN1A 1026 broad.mit.edu 37 6 36652060 36652060 + Missense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:36652060G>T uc003omm.3 + 2 304 c.182G>T c.(181-183)GGT>GTT p.G61V CDKN1A_uc011dtq.1_Missense_Mutation_p.G95V|CDKN1A_uc003oml.2_Missense_Mutation_p.G61V|CDKN1A_uc003omn.2_Missense_Mutation_p.G61V NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 61 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 CCACTGGAGGGTGACTTCGCC 0.672 NaN Multiple_Endocrine_Neoplasia_type_1 1 0 2.61681e-11 0.020292 2.82879e-11 14 29 CUL9 23113 broad.mit.edu 37 6 43155601 43155601 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:43155601G>A uc003ouk.2 + 7 1807 c.1732G>A c.(1732-1734)GAA>AAA p.E578K CUL9_uc003ouj.1_Missense_Mutation_p.E468K|CUL9_uc003oul.2_Missense_Mutation_p.E578K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Missense_Mutation_p.E36K NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 578 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GCTGTCTAATGAACCAAGCAG 0.522 NaN 0 0 0 0.010504 0 20 41 C6orf108 10591 broad.mit.edu 37 6 43194090 43194090 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:43194090G>A uc003ouo.2 - 2 257 c.240C>T c.(238-240)GAC>GAT p.D80D C6orf108_uc003oup.2_Silent_p.D80D NM_006443 NP_006434 O43598 RCL_HUMAN putative c-Myc-responsive isoform 1 80 cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth cytoplasm|nucleus deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531) GCCACTCCAGGTCCTGCTCAT 0.617 NaN 0 0 0 0.00308 0 7 31 TJAP1 93643 broad.mit.edu 37 6 43472671 43472671 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:43472671G>A uc003ovd.2 + 11 1128 c.752G>A c.(751-753)AGC>AAC p.S251N TJAP1_uc003ovf.2_Missense_Mutation_p.S241N|TJAP1_uc003ove.2_Missense_Mutation_p.S241N|TJAP1_uc003ovc.2_Missense_Mutation_p.S241N|TJAP1_uc010jyp.2_Missense_Mutation_p.S210N|TJAP1_uc011dvh.1_Missense_Mutation_p.S241N|TJAP1_uc003ovg.2_Missense_Mutation_p.S117N|TJAP1_uc011dvi.1_Missense_Mutation_p.S251N|TJAP1_uc011dvj.1_Missense_Mutation_p.S51N|TJAP1_uc003ovi.2_Missense_Mutation_p.S117N NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 251 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAGTCAGGCAGCGCCGGGCGC 0.642 NaN 0 0 0 0.01441 0 54 86 IMPG1 3617 broad.mit.edu 37 6 76720899 76720899 + Missense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:76720899G>T uc003pik.1 - 8 980 c.850C>A c.(850-852)CAT>AAT p.H284N NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 284 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCTAACACATGGATTTTTTTG 0.313 NaN 1 0 1.58986e-06 0.008291 1.68109e-06 11 21 GABRR2 2570 broad.mit.edu 37 6 89974215 89974215 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:89974215G>A uc003pnb.2 - 8 1085 c.1077C>T c.(1075-1077)TTC>TTT p.F359F GABRR2_uc011dzx.1_Silent_p.F235F NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 359 Helical; (Potential). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) AGAGGAACACGAACACAAAGC 0.592 NaN 0 0 0 0.012319 0 23 29 BVES 11149 broad.mit.edu 37 6 105581450 105581450 + Missense_Mutation SNP C C A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:105581450C>A uc003pqw.2 - 2 160 c.3G>T c.(1-3)ATG>ATT p.M1I BVES_uc003pqx.2_Missense_Mutation_p.M1I|BVES_uc003pqy.2_Missense_Mutation_p.M1I NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 1 Extracellular (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) CTGTATAATTCATTTTGAAAA 0.323 NaN 1 0 1.06801e-11 0.009535 1.16101e-11 32 55 THEMIS 387357 broad.mit.edu 37 6 128040891 128040891 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:128040891C>G uc003qbi.2 - 6 2155 c.1836G>C c.(1834-1836)CAG>CAC p.Q612H THEMIS_uc010kfa.2_Missense_Mutation_p.Q515H|THEMIS_uc011ebt.1_Missense_Mutation_p.Q651H|THEMIS_uc010kfb.2_Missense_Mutation_p.Q577H NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 612 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CCAAATCATTCTGACTACCAA 0.443 NaN 0 0 0 0.027894 0 42 27 STXBP5 134957 broad.mit.edu 37 6 147648368 147648368 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:147648368G>A uc003qlz.2 + 18 2197 c.2036G>A c.(2035-2037)CGG>CAG p.R679Q STXBP5_uc010khz.1_Missense_Mutation_p.R679Q|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.R350Q|STXBP5_uc003qma.2_Missense_Mutation_p.R26Q NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 679 WD 10. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GATCCTTATCGGAGAGAACCC 0.418 NaN 0 0 0 0.007291 0 28 57 ULBP3 79465 broad.mit.edu 37 6 150387242 150387242 + Nonsense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:150387242G>A uc003qns.3 - 2 145 c.145C>T c.(145-147)CAG>TAG p.Q49* ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Intron NM_024518 NP_078794 Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 precursor 49 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity 0 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) TCACACCACTGTTGCCCATGT 0.473 NaN 0 0 0 0.019004 0 34 63 C6orf97 80129 broad.mit.edu 37 6 151914325 151914325 + Missense_Mutation SNP C C A rs113968720 TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:151914325C>A uc003qol.2 + 8 1466 c.1377C>A c.(1375-1377)GAC>GAA p.D459E NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 459 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TGCGGCTGGACGTGGTTTTAG 0.453 NaN 1 0 8.53417e-09 0.013726 9.12355e-09 33 32 TFB1M 51106 broad.mit.edu 37 6 155579176 155579176 + Missense_Mutation SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr6:155579176T>C uc003qqj.3 - 7 899 c.835A>G c.(835-837)AGG>GGG p.R279G TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) TCTAACAGCCTGCCCGTGCTT 0.453 NaN 0 0 0 0.007291 0 29 94 NUPL2 11097 broad.mit.edu 37 7 23236339 23236339 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:23236339G>A uc003svu.2 + 5 822 c.563G>A c.(562-564)AGG>AAG p.R188K NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.R65K|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.R65K|NUPL2_uc011jyx.1_5'UTR NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 188 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 TGGAGGAACAGGGTAAATGAA 0.328 NaN 0 0 0 0.024334 0 25 40 OGDH 4967 broad.mit.edu 37 7 44739835 44739835 + Silent SNP A A G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:44739835A>G uc003tln.2 + 19 2635 c.2526A>G c.(2524-2526)CTA>CTG p.L842L OGDH_uc011kbx.1_Silent_p.L838L|OGDH_uc011kby.1_Silent_p.L692L|OGDH_uc003tlp.2_Silent_p.L853L|OGDH_uc011kbz.1_Silent_p.L637L NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 842 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TCCACGTGCTACGACGCCAGA 0.567 NaN 0 0 0 0.012213 0 33 39 ABCA13 154664 broad.mit.edu 37 7 48314904 48314904 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:48314904G>C uc003toq.2 + 17 5666 c.5641G>C c.(5641-5643)GAA>CAA p.E1881Q ABCA13_uc010kyr.2_Missense_Mutation_p.E1384Q NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1881 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTCCCGAATGGAAATAACTAG 0.403 NaN 0 0 0 0.017118 0 38 58 ABCA13 154664 broad.mit.edu 37 7 48315084 48315084 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:48315084G>C uc003toq.2 + 17 5846 c.5821G>C c.(5821-5823)GAA>CAA p.E1941Q ABCA13_uc010kyr.2_Missense_Mutation_p.E1444Q NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1941 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TAGCATCTCTGAACTCTGTCC 0.338 NaN 0 0 0 0.01441 0 47 88 AKAP9 10142 broad.mit.edu 37 7 91630326 91630326 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:91630326G>C uc003ulg.2 + 8 1320 c.1095G>C c.(1093-1095)CAG>CAC p.Q365H AKAP9_uc003ule.2_Missense_Mutation_p.Q377H|AKAP9_uc003ulf.2_Missense_Mutation_p.Q365H|AKAP9_uc003uli.2_5'UTR NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 377 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) tacaagaacagattgtgcaaa 0.02 NaN T BRAF papillary thyroid 0 0 0 0.004672 0 3 14 TSC22D4 81628 broad.mit.edu 37 7 100075057 100075057 + Missense_Mutation SNP T T A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:100075057T>A uc003uva.2 - 2 1360 c.605A>T c.(604-606)GAG>GTG p.E202V TSC22D4_uc003uvb.2_5'UTR|TSC22D4_uc011kjv.1_5'UTR|TSC22D4_uc010lgx.2_Missense_Mutation_p.E202V|TSC22D4_uc003uvc.3_Missense_Mutation_p.E202V NM_030935 NP_112197 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 202 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCCGCACTCTCACCGGTCTC 0.711 NaN 0 0 0 0.008291 0 11 13 SLC12A9 56996 broad.mit.edu 37 7 100458882 100458882 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:100458882C>G uc003uwp.2 + 10 1483 c.1341C>G c.(1339-1341)TTC>TTG p.F447L SLC12A9_uc003uwq.2_Missense_Mutation_p.F358L|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.F183L|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.F183L|SLC12A9_uc003uwv.2_5'UTR NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 447 Cytoplasmic (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCCCAACTTCCGGTGAGAGA 0.642 NaN 0 0 0 0.023175 0 35 110 SPDYE6 729597 broad.mit.edu 37 7 101989042 101989042 + Missense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:101989042G>T uc011kkp.1 - 6 1252 c.831C>A c.(829-831)AAC>AAA p.N277K SPDYE6_uc003uzb.2_Missense_Mutation_p.N133K NM_001146210 NP_001139682 P0CI01 SPDE6_HUMAN speedy homolog E6 277 Arg-rich. 0 TGCGAGAGCGGTTCTTCCTAT 0.537 NaN 1 0 2.00703e-41 0.01441 2.23838e-41 51 447 DOCK4 9732 broad.mit.edu 37 7 111422961 111422961 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:111422961C>T uc003vfx.2 - 34 3786 c.3517G>A c.(3517-3519)GAG>AAG p.E1173K DOCK4_uc011kml.1_Missense_Mutation_p.E54K|DOCK4_uc011kmm.1_Missense_Mutation_p.E80K|DOCK4_uc003vfw.2_Missense_Mutation_p.E623K|DOCK4_uc003vfy.2_Missense_Mutation_p.E1218K NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1173 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CCATCTACCTCTCCCATTTTC 0.383 NaN 0 0 0 0.014323 0 24 73 TFEC 22797 broad.mit.edu 37 7 115580778 115580778 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:115580778C>G uc003vhj.1 - 8 1055 c.871G>C c.(871-873)GAT>CAT p.D291H TFEC_uc003vhk.1_Missense_Mutation_p.D262H|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 291 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) AATGATAAATCTGTGAAGTAT 0.433 NaN 0 0 0 0.01441 0 55 106 POT1 25913 broad.mit.edu 37 7 124475365 124475365 + Silent SNP T T A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:124475365T>A uc003vlm.2 - 15 2074 c.1473A>T c.(1471-1473)CCA>CCT p.P491P POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Silent_p.P360P|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 491 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 GTATAAGAAATGGTGCTGAAA 0.269 NaN 0 0 0 0.013114 0 47 87 TAS2R39 259285 broad.mit.edu 37 7 142880972 142880972 + Missense_Mutation SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:142880972T>C uc011ksw.1 + 1 461 c.461T>C c.(460-462)ATT>ACT p.I154T NM_176881 NP_795362 P59534 T2R39_HUMAN taste receptor, type 2, member 39 154 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 Melanoma(164;0.059) AGGTGGAGAATTACTGGATTG 0.433 NaN 0 0 0 0.019004 0 34 60 ZNF786 136051 broad.mit.edu 37 7 148769089 148769089 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:148769089G>A uc003wfh.2 - 4 912 c.775C>T c.(775-777)CTG>TTG p.L259L ZNF786_uc011kuk.1_Silent_p.L222L|ZNF786_uc003wfi.2_Silent_p.L173L NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 259 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGGGCCGCCAGATGGCGCAGC 0.677 NaN 0 0 0 0.006214 0 10 19 SSPO 23145 broad.mit.edu 37 7 149508033 149508033 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:149508033C>T uc010lpk.2 + 67 9427 c.9427C>T c.(9427-9429)CCC>TCC p.P3143S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3143 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAGGACTGCCCCTGTGCCCA 0.617 NaN 0 0 0 0.016723 0 13 24 SSPO 23145 broad.mit.edu 37 7 149509070 149509070 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:149509070C>T uc010lpk.2 + 69 9616 c.9616C>T c.(9616-9618)CGG>TGG p.R3206W NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3206 TSP type-1 11. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGTGCCATCGGCACCGGTT 0.697 NaN 0 0 0 0.014323 0 23 28 MLL3 58508 broad.mit.edu 37 7 152027735 152027735 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:152027735C>T uc003wla.2 - 3 559 c.340G>A c.(340-342)GAG>AAG p.E114K NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 114 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCCGATTCCTCAGACACAGAT 0.433 NaN N medulloblastoma 0 0 0 0.006122 0 17 84 DPP6 1804 broad.mit.edu 37 7 154561137 154561137 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr7:154561137G>A uc003wlk.2 + 9 1023 c.894G>A c.(892-894)TTG>TTA p.L298L DPP6_uc003wli.2_Silent_p.L234L|DPP6_uc003wlm.2_Silent_p.L236L|DPP6_uc011kvq.1_Silent_p.L191L NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 298 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGGAGATTTTGAAGACACACA 0.507 NaN 0 0 0 0.021523 0 25 45 SPAG11B 10407 broad.mit.edu 37 8 7308697 7308697 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:7308697C>T uc003wrk.2 - 3 406 c.239G>A c.(238-240)CGA>CAA p.R80Q SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Missense_Mutation_p.R27Q|SPAG11B_uc003wrj.2_Intron|SPAG11B_uc003wrl.2_Intron NM_016512 NP_057596 Q08648 SG11B_HUMAN sperm associated antigen 11B isoform A 80 spermatogenesis extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) TGAGGGTCCTCGAGCCTCCCG 0.468 NaN 0 0 0 0.00499 0 17 29 INTS10 55174 broad.mit.edu 37 8 19690831 19690831 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:19690831G>C uc003wzj.2 + 12 1660 c.1529G>C c.(1528-1530)AGA>ACA p.R510T NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 510 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) GGGGAGTACAGAGTGAGTACT 0.577 NaN 0 0 0 0.001984 0 7 21 ADAM28 10863 broad.mit.edu 37 8 24178763 24178763 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:24178763C>T uc003xdy.2 + 8 764 c.681C>T c.(679-681)ATC>ATT p.I227I ADAM28_uc003xdx.2_Silent_p.I227I|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_Intron NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 227 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAGATGAGATCAGAAAGAGGG 0.318 NaN 0 0 0 0.028581 0 14 67 EPHX2 2053 broad.mit.edu 37 8 27398124 27398124 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:27398124G>A uc003xfu.2 + 15 1411 c.1330G>A c.(1330-1332)GAG>AAG p.E444K EPHX2_uc010luu.2_Missense_Mutation_p.E412K|EPHX2_uc010luv.2_Missense_Mutation_p.E378K|EPHX2_uc003xfv.2_Missense_Mutation_p.E391K|EPHX2_uc010luw.2_Missense_Mutation_p.E378K NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 444 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GATGGTCACTGAGGAGGAAAT 0.502 NaN 0 0 0 0.01892 0 24 34 MAK16 84549 broad.mit.edu 37 8 33346598 33346598 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:33346598G>A uc003xjj.2 + 5 373 c.333G>A c.(331-333)CAG>CAA p.Q111Q C8orf41_uc010lvu.1_Intron NM_032509 NP_115898 Q9BXY0 MAK16_HUMAN MAK16 homolog 111 nucleolus ovary(1) 1 AATGTAAGCAGAGATTCACCA 0.353 NaN 0 0 0 0.023175 0 40 60 RAB11FIP1 80223 broad.mit.edu 37 8 37729146 37729146 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:37729146C>G uc003xkm.1 - 4 3218 c.3174G>C c.(3172-3174)AAG>AAC p.K1058N RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.K387N|RAB11FIP1_uc003xko.1_Missense_Mutation_p.K387N|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 1058 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) AGCTTGAGCTCTTGCCAAGAT 0.557 NaN 0 0 0 0.01441 0 56 98 FGFR1 2260 broad.mit.edu 37 8 38271717 38271717 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:38271717C>T uc003xlp.2 - 17 3081 c.2139G>A c.(2137-2139)CTG>CTA p.L713L FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.L711L|FGFR1_uc011lbp.1_Silent_p.L624L|FGFR1_uc011lbq.1_Silent_p.L622L|FGFR1_uc010lwk.2_Silent_p.L703L NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 713 Cytoplasmic (Potential).|Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GACCCTCCTTCAGCAGCTTGA 0.607 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 0 0 0 0.010504 0 22 28 PREX2 80243 broad.mit.edu 37 8 69046488 69046488 + Nonsense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:69046488C>T uc003xxv.1 + 32 3988 c.3961C>T c.(3961-3963)CAG>TAG p.Q1321* NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1321 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TTTTCACTTTCAGTCACTTCT 0.438 NaN 0 0 0 0.012319 0 17 25 ZFHX4 79776 broad.mit.edu 37 8 77767490 77767490 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:77767490C>T uc003yav.2 + 10 8585 c.8198C>T c.(8197-8199)TCT>TTT p.S2733F ZFHX4_uc003yau.1_Missense_Mutation_p.S2778F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2733F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2733 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCAGAGTGTTCTGAGGATGTA 0.403 NaN HNSCC(33;0.089) 0 0 0 0.020292 0 13 18 FBXO43 286151 broad.mit.edu 37 8 101153669 101153669 + Silent SNP T T C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:101153669T>C uc003yjd.2 - 2 1526 c.813A>G c.(811-813)TTA>TTG p.L271L FBXO43_uc003yje.2_Silent_p.L237L|FBXO43_uc010mbp.1_Silent_p.L271L NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 271 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CATTAATGCATAAACTGCTAT 0.383 NaN 0 0 0 0.006122 0 19 38 EIF3E 3646 broad.mit.edu 37 8 109228656 109228656 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:109228656C>T uc003ymu.2 - 9 964 c.936G>A c.(934-936)CTG>CTA p.L312L EIF3E_uc003ymt.2_Silent_p.L263L|EIF3E_uc003ymv.2_Silent_p.L219L|EIF3E_uc010mci.1_Silent_p.L312L NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 312 PCI. L->D: Promotes nuclear accumulation. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) CACATTCCCTCAGCTTTTTCT 0.289 NaN 0 0 0 0.006214 0 9 47 EXT1 2131 broad.mit.edu 37 8 118816983 118816983 + Missense_Mutation SNP T T A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:118816983T>A uc003yok.1 - 10 2806 c.2033A>T c.(2032-2034)TAT>TTT p.Y678F NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 678 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TGTCTCCTTATACTGCTTCTT 0.478 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 0 0 0 0.008361 0 31 58 TIGD5 84948 broad.mit.edu 37 8 144681868 144681868 + Missense_Mutation SNP C C G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr8:144681868C>G uc003yyx.1 + 1 1648 c.1648C>G c.(1648-1650)CTG>GTG p.L550V EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 599 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AGAAACAGCTCTGCGGTGGCT 0.687 NaN 0 0 0 0.00308 0 7 11 JAK2 3717 broad.mit.edu 37 9 5089767 5089767 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:5089767G>A uc010mhm.2 + 19 2778 c.2665G>A c.(2665-2667)GAA>AAA p.E889K JAK2_uc003ziw.2_Missense_Mutation_p.E889K NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 889 Protein kinase 2. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GCATAGTACTGAAGAGCACCT 0.448 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 0 0 0 0.014323 0 21 12 TRPM3 80036 broad.mit.edu 37 9 73233873 73233873 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:73233873G>A uc004aid.2 - 16 2476 c.2232C>T c.(2230-2232)CAC>CAT p.H744H TRPM3_uc004ahu.2_Silent_p.H574H|TRPM3_uc004ahv.2_Silent_p.H546H|TRPM3_uc004ahw.2_Silent_p.H616H|TRPM3_uc004ahx.2_Silent_p.H603H|TRPM3_uc004ahy.2_Silent_p.H606H|TRPM3_uc004ahz.2_Silent_p.H593H|TRPM3_uc004aia.2_Silent_p.H591H|TRPM3_uc004aib.2_Silent_p.H581H|TRPM3_uc004aic.2_Silent_p.H744H NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 769 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TGAAGTCGCGGTGTTTGGCAG 0.612 NaN 0 0 0 0.006122 0 18 13 ECM2 1842 broad.mit.edu 37 9 95274343 95274343 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:95274343G>A uc004ash.2 - 5 1185 c.1120C>T c.(1120-1122)CTG>TTG p.L374L CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.L352L|ECM2_uc011lty.1_Silent_p.L374L|ECM2_uc004asg.2_Silent_p.L352L NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 374 LRR 1. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 TTTTTACTCAGATCAAGCCTT 0.393 NaN 0 0 0 0.025465 0 35 15 CTNNAL1 8727 broad.mit.edu 37 9 111741687 111741687 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:111741687G>C uc004bdo.1 - 7 1017 c.975C>G c.(973-975)ATC>ATG p.I325M CTNNAL1_uc010mts.1_Missense_Mutation_p.I61M|CTNNAL1_uc010mtt.1_Missense_Mutation_p.I325M|CTNNAL1_uc004bdp.1_Missense_Mutation_p.I325M NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 325 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) TACGCTCCAAGATGACTTCCA 0.443 NaN 0 0 0 0.027356 0 25 20 ENTPD2 954 broad.mit.edu 37 9 139945381 139945381 + Silent SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:139945381G>C uc004ckw.1 - 5 803 c.747C>G c.(745-747)CTC>CTG p.L249L ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.L249L NM_203468 NP_982293 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 249 Extracellular (Potential). integral to membrane ATP binding 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCAGCCTCTGGAGGACCTGGT 0.647 NaN 0 0 0 0.00308 0 8 14 ENTPD2 954 broad.mit.edu 37 9 139945964 139945964 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:139945964G>A uc004ckw.1 - 3 440 c.384C>T c.(382-384)CTC>CTT p.L128L ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.L128L NM_203468 NP_982293 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 128 Extracellular (Potential). integral to membrane ATP binding 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACACTCACTTGAGCAGGCGCA 0.637 NaN 0 0 0 0.020292 0 13 25 GRIN1 2902 broad.mit.edu 37 9 140058079 140058079 + Missense_Mutation SNP G G C TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:140058079G>C uc004clk.2 + 17 2732 c.2402G>C c.(2401-2403)CGC>CCC p.R801P GRIN1_uc004cli.1_Missense_Mutation_p.R476P|GRIN1_uc004clj.1_Missense_Mutation_p.R798P|GRIN1_uc004cll.2_Missense_Mutation_p.R801P|GRIN1_uc004clm.2_Missense_Mutation_p.R801P|GRIN1_uc004cln.2_Missense_Mutation_p.R819P|GRIN1_uc004clo.2_Missense_Mutation_p.R819P NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 801 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGTGACTCGCGCAGCAACGCC 0.587 NaN 0 0 0 0.024245 0 14 8 ARSF 416 broad.mit.edu 37 X 3002367 3002367 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chrX:3002367G>A uc004cre.1 + 6 711 c.490G>A c.(490-492)GGC>AGC p.G164S ARSF_uc004crf.1_Missense_Mutation_p.G164S NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 164 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTACTACTATGGCATGCCGTT 0.512 NaN 0 0 0 0.017118 0 37 8 CLCN4 1183 broad.mit.edu 37 X 10176604 10176604 + Missense_Mutation SNP G G T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chrX:10176604G>T uc004csy.3 + 9 1793 c.1363G>T c.(1363-1365)GTT>TTT p.V455F CLCN4_uc011mid.1_Missense_Mutation_p.V361F NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 455 Helical; (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CAAAATCGTCGTTACCATATT 0.527 NaN 1 0 2.09306e-48 0.01441 2.34109e-48 70 18 RBMX2 51634 broad.mit.edu 37 X 129537824 129537824 + Missense_Mutation SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chrX:129537824C>T uc004evt.2 + 3 234 c.170C>T c.(169-171)TCA>TTA p.S57L NM_016024 NP_057108 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 57 RRM. nucleotide binding|RNA binding breast(3)|ovary(1) 4 TGTGTGTTCTCACAGTAAGTG 0.343 NaN 0 0 0 0.01441 0 88 120 USP26 83844 broad.mit.edu 37 X 132161712 132161712 + Silent SNP C C T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chrX:132161712C>T uc010nrm.1 - 6 1007 c.537G>A c.(535-537)AAG>AAA p.K179K USP26_uc011mvf.1_Silent_p.K179K NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 179 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) TTCTTTTCCTCTTCTTGTGCT 0.393 NaN 0 0 0 0.014323 0 21 42 GDI1 2664 broad.mit.edu 37 X 153665607 153665607 + Missense_Mutation SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chrX:153665607G>A uc004fli.3 + 1 349 c.7G>A c.(7-9)GAG>AAG p.E3K GDI1_uc011mzo.1_Missense_Mutation_p.E3K NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 3 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GACCATGGACGAGGAATACGA 0.552 NaN 0 0 0 0.004672 0 3 1 TXNIP 10628 broad.mit.edu 37 1 145441053 145441054 + Splice_Site INS - - GT TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 - GT - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:145441053_145441054insGT uc001enn.3 + 7 1481 c.1140_splice c.e7+1 p.E380_splice NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Splice_Site_p.E325_splice NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTATACTGAGGTGAGGATTGT 0.416 NaN NaN NaN NaN NaN NaN 12 238 --- --- ARHGAP30 257106 broad.mit.edu 37 1 161021110 161021121 + In_Frame_Del DEL GGCCAGGGCCAA GGCCAGGGCCAA - TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr1:161021110_161021121delGGCCAGGGCCAA uc001fxl.2 - 10 1749_1760 c.1403_1414delTTGGCCCTGGCC c.(1402-1416)CTTGGCCCTGGCCCC>CCC p.LGPG468del ARHGAP30_uc001fxk.2_In_Frame_Del_p.LGPG468del|ARHGAP30_uc001fxm.2_In_Frame_Del_p.LGPG314del|ARHGAP30_uc009wtx.2_In_Frame_Del_p.LGPG141del|ARHGAP30_uc001fxn.1_In_Frame_Del_p.LGPG314del NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 468_471 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TCACCTGGGgggccagggccaaggccagggcc 0.434 NaN NaN NaN NaN NaN NaN 7 64 --- --- TOPBP1 11073 broad.mit.edu 37 3 133341981 133341982 + Frame_Shift_Del DEL TT TT - TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr3:133341981_133341982delTT uc003eps.2 - 19 3263_3264 c.3131_3132delAA c.(3130-3132)AAAfs p.K1044fs TOPBP1_uc003ept.1_Frame_Shift_Del_p.K48fs NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1044 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 GTGCTGACTCTTTATTATTGGT 0.287 NaN Other_conserved_DNA_damage_response_genes NaN NaN NaN NaN NaN 13 23 --- --- C9orf150 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs139315731 by1000genomes TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chr9:12775861_12775862insGGCGGCGGC uc003zkw.2 + 1 850_851 c.147_148insGGCGGCGGC c.(145-150)insGGCGGCGGC p.55_56insGGG NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 58_59 Gly-rich. 0 GBM - Glioblastoma multiforme(1;1.64e-13) gcggtggtggtggcggcggcgg 0.505 NaN NaN NaN NaN NaN NaN 8 5 --- --- KDM6A 7403 broad.mit.edu 37 X 44820575 44820575 + Frame_Shift_Del DEL T T - TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 T - T T Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 301d6ce3-4099-4c1d-8e50-c04b7ce91450 e0fccaf5-925a-41f9-b87c-cd5ee4aecb59 g.chrX:44820575delT uc004dge.3 + 3 647 c.272delT c.(271-273)GTGfs p.V91fs KDM6A_uc010nhk.2_Frame_Shift_Del_p.V91fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mlc.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 91 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(14)|p.0?(6) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GAAGGAAAAGTGGAGTCTGAT 0.289 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 21 12 --- ---