Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CPD 1362 broad.mit.edu 37 17 28750013 28750013 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:28750013A>G ENST00000225719.4 + 5 1705 c.1629A>G c.(1627-1629)atA>atG p.I543M CPD_ENST00000543464.2_Missense_Mutation_p.I296M NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 543 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TGATGGAGATATCTGATAATC 0.383000 15 42 0 0 1 0 0 CEP95 90799 broad.mit.edu 37 17 62523291 62523291 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:62523291T>C ENST00000556440.2 + 11 1725 c.1215T>C c.(1213-1215)acT>acC p.T405T CEP95_ENST00000553412.1_Silent_p.T241T|CEP95_ENST00000577476.1_3'UTR NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 405 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 AAGAAAATACTGGAAATGAGG 0.413000 6 30 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71792545 71792545 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:71792545C>T ENST00000439122.2 - 1 353 c.67G>A c.(67-69)Gag>Aag p.E23K HDAC8_ENST00000373589.4_Missense_Mutation_p.E23K|HDAC8_ENST00000373561.4_Missense_Mutation_p.E23K|HDAC8_ENST00000373573.3_Missense_Mutation_p.E23K|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373571.1_Missense_Mutation_p.E23K|HDAC8_ENST00000373556.3_Missense_Mutation_p.E23K|HDAC8_ENST00000373560.2_Missense_Mutation_p.E23K|HDAC8_ENST00000373583.1_Missense_Mutation_p.E23K|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373554.1_Missense_Mutation_p.E23K|HDAC8_ENST00000373559.4_Missense_Mutation_p.E23K NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 23 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion 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)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) CTGACATACTCGGGACTATAG 0.592000 68 42 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128467402 128467402 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:128467402C>T ENST00000322313.4 - 19 3495 c.3337G>A c.(3337-3339)Gag>Aag p.E1113K NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1113 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GCACGGCCCTCATGCCTCGGC 0.522000 73 130 0 0 1 0 0 FAM163B 642968 broad.mit.edu 37 9 136444273 136444273 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:136444273C>G ENST00000496132.1 - 3 616 c.372G>C c.(370-372)aaG>aaC p.K124N FAM163B_ENST00000356873.3_Missense_Mutation_p.K124N P0C2L3 F163B_HUMAN family with sequence similarity 163, member B 124 integral to membrane large_intestine(1) 1 GGCTCACGCTCTTGTAGAGCA 0.711000 4 28 0 0 1 0 0 RRS1 23212 broad.mit.edu 37 8 67341274 67341274 + Translation_Start_Site SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:67341274T>A ENST00000320270.2 + 0 12 NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CATCCCGGCATCTGCACGTGG 0.627000 OREG0018806 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 13 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453473 21453473 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:21453473C>T ENST00000307378.6 - 9 1439 c.719G>A c.(718-720)cGt>cAt p.R240H SLCO1A2_ENST00000458504.1_Missense_Mutation_p.R108H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.R108H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R240H|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R238H NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 240 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 ACCGACCCAACGAGTGTCAGT 0.383000 3 25 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464730 5464730 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:5464730C>T ENST00000296564.7 + 13 5505 c.5283C>T c.(5281-5283)gcC>gcT p.A1761A NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1761 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AGTTATCTGCCAGGGCCCGGA 0.547000 16 20 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74836792 74836792 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:74836792G>C ENST00000346246.5 + 2 746 c.515G>C c.(514-516)gGa>gCa p.G172A NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 TCCACAGCAGGACAGCCGAAC 0.512000 25 37 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124489817 124489817 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:124489817G>C ENST00000284288.2 + 4 1232 c.1165G>C c.(1165-1167)Gat>Cat p.D389H NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 389 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CTCGGCATGTGATGAACACCC 0.418000 34 47 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119181614 119181614 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:119181614C>T ENST00000264036.4 - 14 1660 c.e14-1 MCAM_ENST00000392814.1_3'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AGCTTTCTCTCTGCGCCACAA 0.632000 34 182 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101112154 101112154 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:101112154C>T ENST00000314742.8 - 6 1561 c.1339G>A c.(1339-1341)Gat>Aat p.D447N NM_001040616.2 NP_001035706 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 447 p.D447Y(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 AGCATGTCATCGTCTTGTTCT 0.448000 39 48 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42558025 42558025 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:42558025G>A ENST00000262895.3 - 9 1112 c.1113C>T c.(1111-1113)acC>acT p.T371T GRIK5_ENST00000301218.4_Silent_p.T371T|GRIK5_ENST00000593562.1_Silent_p.T371T NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 371 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GGGTGTAGTTGGTTCTCTGCC 0.662000 22 51 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852165 63852165 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:63852165G>C ENST00000279873.7 + 10 3353 c.2943G>C c.(2941-2943)gtG>gtC p.V981V ARID5B_ENST00000309334.5_Silent_p.V738V NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 981 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CTCACCATGTGAGACTGGAGA 0.537000 32 131 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140878605 140878605 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:140878605G>A ENST00000371372.1 + 13 1817 c.1672G>A c.(1672-1674)Gtc>Atc p.V558I CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V558I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V559I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V558I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V559I NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 558 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGTGGGGAGCGTCTTTGAAGT 0.592000 4 8 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216226285 216226285 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:216226285C>T ENST00000354785.4 - 46 7796 c.7427G>A c.(7426-7428)cGa>cAa p.R2476Q FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.R2239Q|FN1_ENST00000345488.5_Missense_Mutation_p.R2183Q|FN1_ENST00000357867.4_Missense_Mutation_p.R2175Q|FN1_ENST00000446046.1_Missense_Mutation_p.R2329Q|FN1_ENST00000443816.1_Missense_Mutation_p.R2264Q|FN1_ENST00000323926.6_Missense_Mutation_p.R2445Q|FN1_ENST00000432072.2_Missense_Mutation_p.R2266Q|FN1_ENST00000356005.4_Missense_Mutation_p.R2295Q|FN1_ENST00000359671.1_Missense_Mutation_p.R2385Q|FN1_ENST00000336916.4_Missense_Mutation_p.R2354Q|FN1_ENST00000346544.3_Missense_Mutation_p.R2210Q P02751 FINC_HUMAN fibronectin 1 2385 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATTTACTCTCGGGAATCTTC 0.408000 26 152 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470507 470507 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:470507C>A ENST00000217244.3 - 10 1015 c.640G>T c.(640-642)Gat>Tat p.D214Y CSNK2A1_ENST00000400217.2_Missense_Mutation_p.D78Y|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D214Y|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D214Y NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 214 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CTCCACATATCCAAACTATAA 0.323000 21 51 3.62473e-10 3.77119e-10 1 1 0 ATP8B3 148229 broad.mit.edu 37 19 1784889 1784889 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:1784889C>T ENST00000539485.1 - 28 3852 c.3619G>A c.(3619-3621)Gtg>Atg p.V1207M ATP8B3_ENST00000310127.6_Missense_Mutation_p.V1197M|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V1160M O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1197 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) TTTATGGACACACTCAGCAGG 0.637000 6 33 0 0 1 0 0 NFYA 4800 broad.mit.edu 37 6 41057404 41057404 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:41057404C>T ENST00000341376.6 + 5 597 c.396C>T c.(394-396)atC>atT p.I132I NFYA_ENST00000353205.5_Silent_p.I103I|OARD1_ENST00000480585.1_Intron NM_002505.4 NP_002496.1 P23511 NFYA_HUMAN nuclear transcription factor Y, alpha 132 Gln-rich. transcription from RNA polymerase II promoter CCAAT-binding factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 9 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCAGCAGATCATCATCCAGC 0.552000 54 75 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77743847 77743847 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:77743847C>T ENST00000407578.2 - 39 6063 c.5797G>A c.(5797-5799)Gat>Aat p.D1933N MYCBP2_ENST00000544440.2_Missense_Mutation_p.D1895N|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1895N NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1895 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GGAATGTCATCAGCTAAAAAA 0.398000 20 34 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119958115 119958115 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:119958115G>C ENST00000543831.1 + 2 322 c.73G>C c.(73-75)Gag>Cag p.E25Q HSD3B2_ENST00000369416.3_Missense_Mutation_p.E25Q|HSD3B2_ENST00000471656.1_3'UTR NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 25 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GTTGGTGGAAGAGAAGGAACT 0.522000 18 73 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112033995 112033995 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:112033995G>A ENST00000371959.3 - 7 1941 c.1942C>T c.(1942-1944)Cag>Tag p.Q648* AMOT_ENST00000371958.1_Nonsense_Mutation_p.Q416*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.Q416*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.Q648*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.Q239* NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 648 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q239*(1)|p.Q648*(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TTGGTGGGCTGACAGTTGCCC 0.512000 39 29 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75043585 75043585 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:75043585G>C ENST00000343932.4 + 3 950 c.887G>C c.(886-888)aGa>aCa p.R296T NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 296 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AAGGGGCCTAGAGCCAGCGGC 0.557000 40 61 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23588121 23588121 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:23588121C>T ENST00000206513.5 - 1 704 c.180G>A c.(178-180)gtG>gtA p.V60V NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 60 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) GCGCTGGCTTCACGGCAAAGA 0.632000 33 62 0 0 1 0 0 ALG1L 200810 broad.mit.edu 37 3 125652507 125652507 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:125652507G>A ENST00000340333.3 - 2 174 c.11C>T c.(10-12)tCg>tTg p.S4L NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 4 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 CATGAAGGCCGACCGCTCCAT 0.637000 13 46 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584822 30584822 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:30584822C>T ENST00000562532.2 + 3 1476 c.1302C>T c.(1300-1302)gtC>gtT p.V434V NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCATGTGTGTCTACTACTGTC 0.587000 25 103 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73066682 73066682 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:73066682C>G ENST00000263674.3 + 4 3908 c.3558C>G c.(3556-3558)ctC>ctG p.L1186L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1186 DH. actin cytoskeleton organization|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 Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CTGCCTTTCTCAAGTTCCTAG 0.557000 34 88 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52199147 52199147 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:52199147G>A ENST00000371471.2 - 2 644 c.219C>T c.(217-219)acC>acT p.T73T ZNF217_ENST00000302342.3_Silent_p.T73T O75362 ZN217_HUMAN zinc finger protein 217 73 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) AATGTGTGAAGGTCTGGCTGC 0.463000 42 96 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133531409 133531409 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:133531409A>G ENST00000409261.1 - 16 5481 c.5108T>C c.(5107-5109)gTa>gCa p.V1703A NCKAP5_ENST00000405974.3_Missense_Mutation_p.V384A|NCKAP5_ENST00000409213.1_Missense_Mutation_p.V384A|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V1703A|NCKAP5_ENST00000473859.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1703 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTCTGAAATACAGAATCTGC 0.343000 40 67 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23444283 23444283 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:23444283G>T ENST00000262713.2 - 5 1645 c.1270C>A c.(1270-1272)Cca>Aca p.P424T AJUBA_ENST00000397388.3_Missense_Mutation_p.P7T|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.P424T NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 424 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding AAACAGCCTGGATGATAGGAC 0.517000 29 103 1.06801e-11 1.12087e-11 1 1 0 STAC3 246329 broad.mit.edu 37 12 57638146 57638146 + Silent SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:57638146T>A ENST00000332782.2 - 10 1011 c.810A>T c.(808-810)ccA>ccT p.P270P STAC3_ENST00000554578.1_Silent_p.P231P|STAC3_ENST00000546246.2_Silent_p.P84P NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 270 SH3 1. intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 TCTTCTCTCCTGGCCTGGGAG 0.587000 OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 71 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57282256 57282256 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:57282256T>C ENST00000288266.3 + 10 887 c.740T>C c.(739-741)aTg>aCg p.M247T NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 247 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) ATAGAGACCATGCAACAGACA 0.408000 25 88 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116621198 116621198 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:116621198G>A ENST00000369248.4 + 17 2532 c.2197G>A c.(2197-2199)Gac>Aac p.D733N FAM160B1_ENST00000369250.3_Intron NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 733 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TACCAGTATTGACCACATCAC 0.368000 24 23 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105151459 105151459 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:105151459G>A ENST00000303694.5 + 3 1376 c.937G>A c.(937-939)Gaa>Aaa p.E313K CHST11_ENST00000549260.1_Missense_Mutation_p.E308K NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 313 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 AACTACTGATGAAATGACCAC 0.463000 12 30 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31682389 31682389 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:31682389C>T ENST00000319386.3 + 11 1954 c.961C>T c.(961-963)Cag>Tag p.Q321* CCDC129_ENST00000407970.3_Nonsense_Mutation_p.Q469*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.Q377*|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.Q495* Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 469 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CCAGGACTGTCAGCTAGAGTC 0.502000 11 107 0 0 1 0 0 FOXC1 2296 broad.mit.edu 37 6 1612341 1612341 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:1612341G>A ENST00000380874.2 + 1 1661 c.1661G>A c.(1660-1662)tGa>tAa p.*554* NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 0 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) AGCAAGTTTTGACACACCCTC 0.448000 18 86 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46678299 46678299 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:46678299C>T ENST00000274793.7 - 8 956 c.760G>A c.(760-762)Gat>Aat p.D254N PLA2G7_ENST00000541026.1_Missense_Mutation_p.D127N|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D209N|PLA2G7_ENST00000537365.1_Missense_Mutation_p.D254N NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 254 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TGTTCCATATCAAACTTTAAA 0.333000 43 37 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834468 125834468 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:125834468C>T ENST00000299308.3 + 2 531 c.523C>T c.(523-525)Cgg>Tgg p.R175W TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 175 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCCAGCTGTCGGCTGCAAGG 0.612000 35 49 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104032211 104032211 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:104032211C>A ENST00000374874.3 + 3 552 c.113C>A c.(112-114)aCt>aAt p.T38N LPPR1_ENST00000395056.2_Missense_Mutation_p.T38N NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 38 integral to membrane catalytic activity TTCGAATGCACTGACACTTTT 0.502000 18 70 5.03518e-11 5.26904e-11 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151896487 151896487 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:151896487C>T ENST00000355193.2 - 27 4368 c.4150G>A c.(4150-4152)Gat>Aat p.D1384N KMT2C_ENST00000262189.6_Missense_Mutation_p.D1384N lysine (K)-specific methyltransferase 2C GACAGATTATCTAAACTTATC 0.348000 16 13 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647266 20647266 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:20647266G>A ENST00000272233.4 + 1 432 c.40G>A c.(40-42)Ggc>Agc p.G14S NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 14 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GGTGGGCGACGGCGCGTGTGG 0.677000 28 72 0 0 1 0 0 FADS1 3992 broad.mit.edu 37 11 61580784 61580784 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:61580784C>T ENST00000350997.7 - 2 649 c.417G>A c.(415-417)aaG>aaA p.K139K FADS1_ENST00000542506.1_5'UTR|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_5'UTR NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 82 cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCATATACTTCTTCACAAGGC 0.532000 103 154 0 0 1 0 0 RETN 56729 broad.mit.edu 37 19 7734744 7734744 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:7734744G>A ENST00000221515.2 + 3 244 c.156G>A c.(154-156)caG>caA p.Q52Q RETN_ENST00000381324.2_Intron NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 52 hormone activity ovary(1) 1 TGGAGTGCCAGAGCGTCACCT 0.612000 28 41 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33482390 33482390 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:33482390C>T ENST00000268876.5 + 7 812 c.715C>T c.(715-717)Ctg>Ttg p.L239L UNC45B_ENST00000433649.1_Silent_p.L239L|UNC45B_ENST00000394570.2_Silent_p.L239L|UNC45B_ENST00000591048.1_Silent_p.L239L|UNC45B_ENST00000378449.1_Silent_p.L239L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 239 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GGAGATGTCTCTGGCTGTCTG 0.557000 40 72 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84075602 84075602 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:84075602C>T ENST00000299709.3 - 1 160 c.161G>A c.(160-162)gGa>gAa p.G54E NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 54 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 AGGGACCACTCCGCCCGCTTT 0.637000 18 174 0 0 1 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44420659 44420659 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:44420659G>A ENST00000372622.3 + 1 84 c.16G>A c.(16-18)Gac>Aac p.D6N NM_052951.2 NP_443183.1 Q9H147 TDIF1_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 1 6 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) AGCCACTGGCGACGCCGAGCA 0.741000 35 25 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5438071 5438071 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:5438071G>C ENST00000341928.2 - 6 908 c.568C>G c.(568-570)Cca>Gca p.P190A EPB41L3_ENST00000540638.2_Missense_Mutation_p.P190A|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P190A|EPB41L3_ENST00000544123.1_Missense_Mutation_p.P190A|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Missense_Mutation_p.P190A NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 190 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GGGTCTGGTGGATAAAATTTC 0.383000 15 49 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108202384 108202384 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:108202384G>T ENST00000369002.4 - 18 2083 c.1904C>A c.(1903-1905)aCa>aAa p.T635K NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 635 protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) CACAGGATGTGTTATTTTTGA 0.348000 28 46 8.88839e-20 9.49412e-20 1 1 0 RNMTL1 55178 broad.mit.edu 37 17 691281 691281 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:691281G>C ENST00000304478.4 + 3 742 c.636G>C c.(634-636)ttG>ttC p.L212F NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 212 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) CTTTATTATTGATTTGTGACA 0.463000 62 140 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107746973 107746973 + Silent SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:107746973A>C ENST00000388781.3 - 7 719 c.636T>G c.(634-636)ccT>ccG p.P212P LAMB4_ENST00000414450.2_Silent_p.P212P|LAMB4_ENST00000205386.4_Silent_p.P212P|LAMB4_ENST00000418464.1_Silent_p.P212P|LAMB4_ENST00000388780.3_Silent_p.P212P NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 212 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 AGGGGCTATAAGGGTTTTCAA 0.274000 11 7 0 0 1 0 0 GRB2 2885 broad.mit.edu 37 17 73316530 73316530 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:73316530G>C ENST00000578961.1 - 4 578 c.404C>G c.(403-405)cCa>cGa p.P135R GRB2_ENST00000316615.5_Silent_p.P150P|GRB2_ENST00000392563.1_Silent_p.P150P|GRB2_ENST00000392564.1_Silent_p.P191P|GRB2_ENST00000392562.1_Silent_p.P191P|GRB2_ENST00000316804.5_Silent_p.P191P|GRB2_ENST00000462266.1_5'UTR P62993 GRB2_HUMAN growth factor receptor-bound protein 2 0 SH2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 17 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) TCCACCAGTTGGGGTCTGAGT 0.537000 56 196 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31502227 31502227 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:31502227C>T ENST00000327237.2 - 13 1375 c.1336G>A c.(1336-1338)Gag>Aag p.E446K C16orf58_ENST00000567994.1_Missense_Mutation_p.E401K|C16orf58_ENST00000570164.1_Missense_Mutation_p.E444K Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 446 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 TGGTGCTTCTCGGTCTTCCAG 0.627000 15 75 0 0 1 0 0 SLC25A36 55186 broad.mit.edu 37 3 140675471 140675471 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:140675471G>A ENST00000446041.2 + 2 369 c.144G>A c.(142-144)ctG>ctA p.L48L SLC25A36_ENST00000453248.2_Silent_p.L48L|SLC25A36_ENST00000507429.1_Silent_p.L48L|SLC25A36_ENST00000324194.6_Silent_p.L48L|SLC25A36_ENST00000393015.4_3'UTR NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 48 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 AAGTTCAGCTGAACACCATGG 0.453000 22 133 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99661763 99661763 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:99661763G>A ENST00000373034.4 - 1 3508 c.1833C>T c.(1831-1833)gaC>gaT p.D611D PCDH19_ENST00000420881.2_Silent_p.D611D|PCDH19_ENST00000255531.7_Silent_p.D611D NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 611 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AGAAGCCGCGGTCGCCCTCGG 0.567000 8 58 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149699347 149699347 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:149699347G>T ENST00000367456.1 + 4 873 c.296G>T c.(295-297)gGa>gTa p.G99V TAB2_ENST00000538427.1_Missense_Mutation_p.G99V|TAB2_ENST00000286332.5_Missense_Mutation_p.G99V|TAB2_ENST00000536230.1_Missense_Mutation_p.G67V|TAB2_ENST00000392282.1_Missense_Mutation_p.G99V Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 99 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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 K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 AGGATGAATGGAAGTAGGACT 0.453000 7 67 0.000274275 0.000279311 1 1 0 C3orf36 80111 broad.mit.edu 37 3 133647173 133647173 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:133647173C>G ENST00000408895.2 - 1 1483 c.475G>C c.(475-477)Ggc>Cgc p.G159R NM_025041.2 NP_079317.2 Q3SXR2 CC036_HUMAN chromosome 3 open reading frame 36 159 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 CCCGCTCTGCCTTGAGACTGA 0.517000 16 83 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116734976 116734976 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:116734976A>T ENST00000298746.3 + 8 949 c.888A>T c.(886-888)acA>acT p.T296T NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 296 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) ACAAATGGACAATTGATGACA 0.433000 69 69 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198742 170198742 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:170198742G>A ENST00000231706.5 - 7 1644 c.1329C>T c.(1327-1329)ttC>ttT p.F443F CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCTCAGACAAGAACTTGACAA 0.512000 49 55 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224477270 224477270 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:224477270C>T ENST00000281701.6 - 13 1750 c.1491G>A c.(1489-1491)caG>caA p.Q497Q NVL_ENST00000361463.3_Silent_p.Q391Q|NVL_ENST00000340871.4_Silent_p.Q308Q|NVL_ENST00000469075.1_Silent_p.Q406Q|NVL_ENST00000482491.1_Silent_p.Q221Q|NVL_ENST00000391875.2_Silent_p.Q391Q NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 497 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) GATTTTTCTTCTGCTGTTCCT 0.473000 23 35 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2844876 2844876 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:2844876A>G ENST00000380445.3 + 17 1735 c.1663A>G c.(1663-1665)Atg>Gtg p.M555V VPS16_ENST00000380443.3_Missense_Mutation_p.M241V|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.M411V|PTPRA_ENST00000380393.3_5'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 555 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 TCTCCTAAAGATGAAGAGGAG 0.617000 26 86 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19648427 19648427 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:19648427C>T ENST00000457500.2 - 1 345 c.16G>A c.(16-18)Gag>Aag p.E6K ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E6K|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E6K|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E6K|ALDH3A1_ENST00000494157.2_Intron NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 6 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TTCACGGCCTCGCTGATCTTG 0.682000 18 38 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645249 70645249 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:70645249T>C ENST00000298596.6 + 3 1780 c.1697T>C c.(1696-1698)aTa>aCa p.I566T STOX1_ENST00000399169.4_Missense_Mutation_p.I566T|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.I456T NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 566 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 TCCATTTACATAAATGACCCT 0.418000 14 62 0 0 1 0 0 COPS2 9318 broad.mit.edu 37 15 49431772 49431772 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:49431772C>G ENST00000388901.5 - 4 398 c.325G>C c.(325-327)Gaa>Caa p.E109Q COPS2_ENST00000299259.6_Missense_Mutation_p.E109Q|COPS2_ENST00000542928.1_Missense_Mutation_p.E45Q NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 109 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) ATGGATTTTTCAGAATAATTT 0.313000 31 34 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58982235 58982235 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:58982235C>T ENST00000536459.2 + 4 1085 c.376C>T c.(376-378)Cgg>Tgg p.R126W ZNF324_ENST00000196482.3_Missense_Mutation_p.R126W O75467 Z324A_HUMAN zinc finger protein 324 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCAGAGACAACGGGGTGCCTC 0.602000 50 109 0 0 1 0 0 BTBD17 388419 broad.mit.edu 37 17 72353375 72353375 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:72353375C>T ENST00000375366.3 - 3 984 c.858G>A c.(856-858)ctG>ctA p.L286L NM_001080466.1 NP_001073935.1 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 286 extracellular region endometrium(1)|kidney(1)|lung(4) 6 AGGCCTGCAGCAGGAGGTCGG 0.711000 4 6 0 0 1 0 0 NXNL2 158046 broad.mit.edu 37 9 91150578 91150578 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:91150578C>T ENST00000375855.3 + 1 559 c.229C>T c.(229-231)Cag>Tag p.Q77* NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375854.3_Nonsense_Mutation_p.Q77* NM_145283.2 NP_660326.2 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 77 Thioredoxin. lung(3) 3 CGGCAGCTCCCAGGAGATGCT 0.706000 18 30 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513304 70513304 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:70513304C>A ENST00000503640.1 - 1 114 c.59G>T c.(58-60)gGt>gTt p.G20V UGT2A1_ENST00000286604.4_Missense_Mutation_p.G20V|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G20V|UGT2A1_ENST00000512704.1_Missense_Mutation_p.G20V NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 20 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AACATTCCCACCAAGAGTGGT 0.383000 7 12 0.00448238 0.00454542 1 1 0 SEPT14 346288 broad.mit.edu 37 7 55874908 55874908 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:55874908C>A ENST00000388975.3 - 8 977 c.861G>T c.(859-861)atG>atT p.M287I NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 287 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TACAAAGAAGCATATCTCGGA 0.338000 3 54 0.115264 0.115746 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201030503 201030503 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:201030503G>A ENST00000362061.3 - 25 3373 c.3147C>T c.(3145-3147)atC>atT p.I1049I CACNA1S_ENST00000367338.3_Silent_p.I1049I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1049 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAATGAGGATGATGTAGATGA 0.512000 32 33 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1559872 1559872 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:1559872G>T ENST00000262319.6 + 21 2728 c.2449G>T c.(2449-2451)Gca>Tca p.A817S NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 817 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CAGGACGCTGGCACTGAGGGC 0.642000 9 28 1.08611e-07 1.11869e-07 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65267689 65267689 + RNA SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:65267689G>C ENST00000534336.1 + 0 2457 NR_002819.2 GCTTTTGGAAGAGTTAGAAGA 0.333000 4 12 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207452091 207452091 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:207452091C>G ENST00000264377.3 + 19 2108 c.1780C>G c.(1780-1782)Caa>Gaa p.Q594E ADAM23_ENST00000374415.3_Missense_Mutation_p.Q594E|ADAM23_ENST00000374416.1_Missense_Mutation_p.Q594E NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 594 Cys-rich. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGCATGCAATCAAAATCAGGT 0.289000 10 47 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33638310 33638310 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:33638310G>A ENST00000380099.3 + 5 3034 c.3026G>A c.(3025-3027)aGa>aAa p.R1009K KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 1009 aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AAAGGCAGAAGAAGTTACAAA 0.323000 10 25 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89044479 89044479 + Missense_Mutation SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:89044479A>T ENST00000251038.5 + 9 1499 c.1274A>T c.(1273-1275)aAt>aTt p.N425I ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425I|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391I|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425I|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425I|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425I NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 425 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 GTAGAAAAAAATCAAGGTAAT 0.343000 9 44 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551654 102551654 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:102551654C>G ENST00000334701.7 - 5 1291 c.1010G>C c.(1009-1011)gGa>gCa p.G337A HSP90AA1_ENST00000441629.2_Missense_Mutation_p.G36A|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.G215A NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 215 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) AATGGGATATCCAATAAACTG 0.378000 4 32 0 0 1 0 0 FOXN4 121643 broad.mit.edu 37 12 109719382 109719382 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:109719382G>C ENST00000299162.5 - 9 1228 c.1124C>G c.(1123-1125)tCt>tGt p.S375C FOXN4_ENST00000355216.1_Missense_Mutation_p.S195C NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 375 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 TGGTGCTGGAGAGTCTGGAGC 0.682000 10 22 0 0 1 0 0 SSR3 6747 broad.mit.edu 37 3 156266665 156266665 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:156266665G>A ENST00000467789.1 - 3 447 c.388C>T c.(388-390)Cat>Tat p.H130Y SSR3_ENST00000478842.1_Intron|SSR3_ENST00000476217.1_Intron|SSR3_ENST00000265044.2_Intron|SSR3_ENST00000463503.1_Intron|SSR3_ENST00000496050.1_Intron Q9UNL2 SSRG_HUMAN signal sequence receptor, gamma (translocon-associated protein gamma) 120 cotranslational protein targeting to membrane integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex protein binding|signal sequence binding endometrium(1)|prostate(2) 3 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CCCCTTTTATGATGGCCATAC 0.338000 17 18 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984991 110984991 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:110984991C>G ENST00000524391.1 - 3 1519 c.487G>C c.(487-489)Gaa>Caa p.E163Q KCNV1_ENST00000297404.1_Missense_Mutation_p.E163Q Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 163 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TCTAAAGTTTCACTCAGCTCT 0.383000 54 76 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399581 8399581 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:8399581C>T ENST00000471889.1 + 8 2188 c.1803C>T c.(1801-1803)ctC>ctT p.L601L SLC45A1_ENST00000377479.2_Silent_p.L635L|SLC45A1_ENST00000289877.8_Silent_p.L601L Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 601 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGGAGTTCCTCAGCGTCCGCA 0.637000 40 85 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85407673 85407673 + Splice_Site SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:85407673G>A ENST00000258888.5 + 12 5273 c.5106G>A c.(5104-5106)gaG>gaA p.E1702E NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1702 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTATGTTTAGGATCATCCCAC 0.517000 41 66 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36301442 36301442 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:36301442G>A ENST00000373210.3 + 13 1817 c.1572G>A c.(1570-1572)gtG>gtA p.V524V NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TAGCGGAGGTGAAACGTGTTG 0.368000 8 22 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49079027 49079027 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:49079027C>T ENST00000376265.2 - 17 2336 c.2275G>A c.(2275-2277)Gac>Aac p.D759N CACNA1F_ENST00000323022.5_Missense_Mutation_p.D748N|CACNA1F_ENST00000376251.1_Missense_Mutation_p.D694N|CACNA1F_ENST00000480889.1_5'UTR NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 759 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GCCAGGTTGTCCACAGCAATG 0.562000 25 18 0 0 1 0 0 PSEN2 5664 broad.mit.edu 37 1 227071519 227071519 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:227071519G>A ENST00000366782.1 + 5 854 c.354G>A c.(352-354)gcG>gcA p.A118A PSEN2_ENST00000366783.3_Silent_p.A85A|PSEN2_ENST00000391872.2_Silent_p.A118A|PSEN2_ENST00000340188.4_Silent_p.A85A|PSEN2_ENST00000422240.2_Silent_p.A85A P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 85 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding p.A85A(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) AATACGGAGCGAAGCACGTGA 0.582000 34 131 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49443747 49443747 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:49443747G>C ENST00000301067.7 - 11 3623 c.3624C>G c.(3622-3624)atC>atG p.I1208M NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.I935I(1)|p.I1208I(1) TCAGATTAGAGATCTCGTTAA 0.607000 26 43 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452474 43452474 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:43452474C>T ENST00000282388.3 - 2 762 c.469G>A c.(469-471)Gag>Aag p.E157K THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 157 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E157Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CGGCACAGCTCGGTCTTGTAG 0.652000 12 45 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21422437 21422437 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:21422437C>A ENST00000313654.9 + 28 3656 c.3415C>A c.(3415-3417)Ccg>Acg p.P1139T LAMA3_ENST00000399516.3_Missense_Mutation_p.P1139T NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1139 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCAGCGCACCCGACGTTTCC 0.582000 56 85 6.07242e-22 6.51521e-22 1 1 0 MARK2 2011 broad.mit.edu 37 11 63666130 63666130 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:63666130G>A ENST00000402010.2 + 5 967 c.388G>A c.(388-390)Gag>Aag p.E130K MARK2_ENST00000350490.7_Missense_Mutation_p.E130K|MARK2_ENST00000513765.2_Missense_Mutation_p.E97K|MARK2_ENST00000508192.1_Missense_Mutation_p.E130K|MARK2_ENST00000502399.3_Missense_Mutation_p.E130K|MARK2_ENST00000413835.2_Missense_Mutation_p.E130K|MARK2_ENST00000377810.3_Missense_Mutation_p.E97K|MARK2_ENST00000315032.8_Missense_Mutation_p.E130K|MARK2_ENST00000377809.4_Missense_Mutation_p.E130K|MARK2_ENST00000425897.2_Missense_Mutation_p.E97K|MARK2_ENST00000509502.2_Missense_Mutation_p.E97K|MARK2_ENST00000408948.3_Missense_Mutation_p.E97K|MARK2_ENST00000361128.5_Missense_Mutation_p.E130K NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 130 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.E97*(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CCTTGTCATGGAGTACGCTAG 0.498000 47 121 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29745219 29745219 + Missense_Mutation SNP G G C rs144812422 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:29745219G>C ENST00000357586.2 - 11 1611 c.1425C>G c.(1423-1425)gaC>gaG p.D475E AP1B1_ENST00000317368.7_Missense_Mutation_p.D475E|AP1B1_ENST00000415447.1_Missense_Mutation_p.D475E|AP1B1_ENST00000432560.2_Missense_Mutation_p.D475E|AP1B1_ENST00000356015.2_Missense_Mutation_p.D475E|AP1B1_ENST00000405198.1_Missense_Mutation_p.D475E|AP1B1_ENST00000402502.1_Missense_Mutation_p.D475E NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 475 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 protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTGTGCTCTCGTCATGGAAGC 0.612000 46 110 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190593496 190593496 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:190593496G>A ENST00000520309.1 + 15 3230 c.3142G>A c.(3142-3144)Gct>Act p.A1048T ANKAR_ENST00000438402.2_Missense_Mutation_p.A1048T|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.A1048T|ANKAR_ENST00000431575.2_Missense_Mutation_p.A977T NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1048 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TAGTACGATTGCTGAAGGCAC 0.373000 55 28 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109790268 109790268 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:109790268G>A ENST00000399132.1 - 20 1589 c.1059C>T c.(1057-1059)ggC>ggT p.G353G COL25A1_ENST00000399127.1_Silent_p.G349G|COL25A1_ENST00000399126.1_Silent_p.G353G NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 353 Collagen-like 4. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AACCTGGTAAGCCTGGTTCTC 0.343000 6 33 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161457 25161457 + RNA SNP G G A rs1851732 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:25161457G>A ENST00000453498.1 + 0 981 TPTE2P6_ENST00000440905.1_RNA TTATTTATTCGATTCGTGGTA 0.378000 4 44 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947530 145947530 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:145947530A>C ENST00000292562.7 - 5 1790 c.1515T>G c.(1513-1515)atT>atG p.I505M ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTGATGCTGAATGAGGGTTG 0.537000 64 66 0 0 1 0 0 FFAR2 2867 broad.mit.edu 37 19 35940871 35940871 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:35940871G>A ENST00000599180.2 + 2 335 c.255G>A c.(253-255)acG>acA p.T85T FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.T85T O15552 FFAR2_HUMAN free fatty acid receptor 2 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCGCCCTCACGAGTTTTGGCT 0.622000 13 22 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37324164 37324164 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:37324164C>G ENST00000231498.3 - 20 2340 c.2137G>C c.(2137-2139)Gaa>Caa p.E713Q NUP155_ENST00000513532.1_Missense_Mutation_p.E713Q|NUP155_ENST00000381843.2_Missense_Mutation_p.E654Q NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 713 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCTTTAGTTCTTGTAGCACT 0.358000 54 59 0 0 1 0 0 PIGB 9488 broad.mit.edu 37 15 55611498 55611498 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:55611498C>T ENST00000164305.5 + 1 341 c.50C>T c.(49-51)gCc>gTc p.A17V PIGB_ENST00000569909.1_3'UTR|PIGB_ENST00000539642.1_5'UTR NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 17 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) GGCGGAGATGCCAGCCTCACT 0.592000 3 20 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78915520 78915520 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:78915520C>T ENST00000453514.1 + 2 742 c.49C>T c.(49-51)Caa>Taa p.Q17* PAPD4_ENST00000423041.2_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000296783.3_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.Q17* NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 17 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) TCCAAATCATCAACAACATAA 0.393000 20 28 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78073333 78073333 + Nonsense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:78073333C>G ENST00000397545.4 + 20 3215 c.3188C>G c.(3187-3189)tCa>tGa p.S1063* NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1063 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CAGAACCTTTCAGAGATCGTG 0.552000 34 35 0 0 1 0 0 MTX3 345778 broad.mit.edu 37 5 79279590 79279590 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:79279590G>A ENST00000512560.1 - 8 792 c.673C>T c.(673-675)Cag>Tag p.Q225* MTX3_ENST00000512528.1_Nonsense_Mutation_p.Q286*|MTX3_ENST00000509852.1_3'UTR NM_001167741.1 NP_001161213.1 Q5HYI7 MTX3_HUMAN metaxin 3 286 protein targeting to mitochondrion mitochondrial outer membrane endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1) 7 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) GGAGGAAGCTGAGGGCTTTGG 0.468000 34 50 0 0 1 0 0 H2AFX 3014 broad.mit.edu 37 11 118965872 118965872 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:118965872C>T ENST00000530167.1 - 1 305 c.233G>A c.(232-234)cGa>cAa p.R78Q NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 78 R -> L (in Ref. 2; CAG33360). DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) GGGGATGATTCGCGTCTTCTT 0.682000 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 225 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11332547 11332547 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:11332547G>A ENST00000294618.7 - 28 3541 c.3530C>T c.(3529-3531)cCa>cTa p.P1177L DOCK6_ENST00000319867.7_Missense_Mutation_p.P516L NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1177 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 ATGCAGCCGTGGCAAGGTATC 0.587000 92 204 0 0 1 0 0 DYNC1LI1 51143 broad.mit.edu 37 3 32578521 32578521 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:32578521G>C ENST00000273130.4 - 6 917 c.814C>G c.(814-816)Cgg>Ggg p.R272G DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.R156G NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 272 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 CAAAACTTCCGGATATGTGAC 0.264000 23 46 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222869 27222869 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:27222869G>A ENST00000230582.3 + 11 1450 c.1435G>A c.(1435-1437)Gag>Aag p.E479K PRSS16_ENST00000421826.2_Missense_Mutation_p.E222K|PRSS16_ENST00000377456.2_3'UTR NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 479 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CATGGCACCTGAGAGGCCCTC 0.507000 126 145 0 0 1 0 0 FBXO2 26232 broad.mit.edu 37 1 11708769 11708769 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:11708769G>A ENST00000354287.4 - 6 1214 c.873C>T c.(871-873)agC>agT p.S291S NM_012168.5 NP_036300.2 Q9UK22 FBX2_HUMAN F-box protein 2 291 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CTACCCACACGCTGCTGTTGG 0.657000 40 69 0 0 1 0 0 GHITM 27069 broad.mit.edu 37 10 85903844 85903844 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:85903844G>A ENST00000372134.3 + 4 516 c.323G>A c.(322-324)gGa>gAa p.G108E NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 108 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 AATGAGATTGGAGCTATTGAA 0.398000 55 40 0 0 1 0 0 RPRML 388394 broad.mit.edu 37 17 45056167 45056167 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:45056167C>T ENST00000322329.3 - 1 447 c.207G>A c.(205-207)caG>caA p.Q69Q RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron|LRRC37A17P_ENST00000570478.1_RNA NM_203400.4 NP_981945.1 Q8N4K4 RPRML_HUMAN reprimo-like 69 integral to membrane lung(1) 1 GCACGGCGATCTGCGCCACCC 0.687000 12 33 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34022588 34022588 + Missense_Mutation SNP C C G rs115683257 byFrequency TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:34022588C>G ENST00000382499.2 - 23 3059 c.3060G>C c.(3058-3060)atG>atC p.M1020I SYNJ1_ENST00000433931.2_Missense_Mutation_p.M1020I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.M981I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.M976I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.M981I NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 981 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TCTCTAAACTCATTTCTTCTT 0.353000 39 80 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109581 145109581 + RNA SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:145109581G>A ENST00000453618.1 + 0 570 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CCTTCCCTAAGACGTTGGCTT 0.423000 35 350 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109795716 109795716 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:109795716C>T ENST00000271332.3 + 1 3076 c.3015C>T c.(3013-3015)agC>agT p.S1005S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1005 Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTCTGGTGAGCCGGGCTACAG 0.567000 15 67 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577108 7577108 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:7577108C>A ENST00000420246.2 - 8 962 c.830G>T c.(829-831)tGt>tTt p.C277F TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000269305.4_Missense_Mutation_p.C277F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 277 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTCCCAGGACAGGCACAAAC 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 23 4.96729e-08 5.13097e-08 1 1 0 TOMM34 10953 broad.mit.edu 37 20 43580587 43580587 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:43580587G>A ENST00000372813.3 - 4 589 c.437C>T c.(436-438)tCa>tTa p.S146L PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 146 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) CAAGGGGATTGAGGGCAGCTT 0.527000 40 172 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10897350 10897350 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:10897350C>T ENST00000314646.5 + 7 1124 c.960C>T c.(958-960)gaC>gaT p.D320D DNM2_ENST00000408974.4_Silent_p.D320D|DNM2_ENST00000585892.1_Silent_p.D320D|DNM2_ENST00000359692.6_Silent_p.D320D|DNM2_ENST00000355667.6_Silent_p.D320D|DNM2_ENST00000389253.4_Silent_p.D320D P50570 DYN2_HUMAN dynamin 2 320 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TTCGGCCCGACGACCCCACCC 0.637000 """F, N, Splice, Mis, O""" ETP ALL 21 27 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734781 140734781 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:140734781C>G ENST00000571252.1 + 1 14 c.14C>G c.(13-15)cCt>cGt p.P5R PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGCGCCTCCTGCTCGCCCA 0.602000 22 28 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139741424 139741424 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:139741424T>A ENST00000230993.6 + 4 644 c.609T>A c.(607-609)aaT>aaA p.N203K SLC4A9_ENST00000507527.1_Missense_Mutation_p.N203K|SLC4A9_ENST00000506545.1_Missense_Mutation_p.N179K|SLC4A9_ENST00000432095.2_Missense_Mutation_p.N179K|SLC4A9_ENST00000506757.2_Missense_Mutation_p.N179K NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 203 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCTGACAATGAGGAAGCCC 0.502000 61 49 0 0 1 0 0 RNF175 285533 broad.mit.edu 37 4 154669807 154669807 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:154669807C>G ENST00000274068.4 - 3 383 c.7G>C c.(7-9)Gat>Cat p.D3H RNF175_ENST00000347063.4_Missense_Mutation_p.R79P|RNF175_ENST00000506505.1_5'UTR Q8N4F7 RN175_HUMAN ring finger protein 175 0 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) ATTGTAGGATCGGCCATGCCT 0.532000 4 16 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8386045 8386045 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:8386045G>A ENST00000471889.1 + 4 1043 c.658G>A c.(658-660)Gac>Aac p.D220N SLC45A1_ENST00000377479.2_Missense_Mutation_p.D254N|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D220N Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 220 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CTACATGATGGACGTGTGCAG 0.662000 65 167 0 0 1 0 0 HOXB9 3219 broad.mit.edu 37 17 46703546 46703546 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:46703546G>A ENST00000311177.5 - 1 293 c.86C>T c.(85-87)cCt>cTt p.P29L HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.P29L NM_024017.4 NP_076922.1 P17482 HXB9_HUMAN homeobox B9 29 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1) 12 CTGGCCAGAAGGAAACTTGGC 0.602000 6 24 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84211366 84211366 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:84211366G>C ENST00000378553.5 + 12 2221 c.2097G>C c.(2095-2097)gaG>gaC p.E699D DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 699 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 CACCCCCAGAGACGTGTGTCG 0.592000 57 257 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111913199 111913199 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:111913199C>T ENST00000368761.5 - 2 569 c.91G>A c.(91-93)Gaa>Aaa p.E31K TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.E31K|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.E40K NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 40 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GGTTCTGATTCCTCTTCCGGG 0.463000 12 66 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187206844 187206844 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:187206844G>C ENST00000264692.4 + 12 1534 c.1201G>C c.(1201-1203)Gaa>Caa p.E401Q F11_ENST00000403665.2_Missense_Mutation_p.E453Q P03951 FA11_HUMAN coagulation factor XI 453 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AAATCAATCTGAAATAAAAGA 0.348000 10 44 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37744784 37744784 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:37744784C>A ENST00000400485.1 + 16 2697 c.2621C>A c.(2620-2622)aCa>aAa p.T874K MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 874 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 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GATGTTTCAACATCAAGTAAC 0.358000 13 47 1.5739e-10 1.64223e-10 1 1 0 LILRA2 11027 broad.mit.edu 37 19 55087422 55087422 + Silent SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:55087422G>T ENST00000251377.3 + 7 1234 c.1101G>T c.(1099-1101)ctG>ctT p.L367L LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.L367L|LILRA2_ENST00000391737.1_Silent_p.L355L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L367L|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CACTGCATCTGAGATCAGAGC 0.587000 19 122 1.15919e-05 1.18718e-05 1 1 0 GPAM 57678 broad.mit.edu 37 10 113928632 113928632 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:113928632G>C ENST00000348367.4 - 10 1070 c.873C>G c.(871-873)ctC>ctG p.L291L GPAM_ENST00000369425.1_Silent_p.L291L|GPAM_ENST00000423155.1_Silent_p.L291L Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 291 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) AAGCTCTATAGAGAACATCTT 0.408000 31 30 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187575 152187575 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:152187575G>A ENST00000368801.2 - 3 6605 c.6530C>T c.(6529-6531)tCt>tTt p.S2177F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2177 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAGATCCAGACCCTTGTCG 0.637000 36 295 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117089803 117089803 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:117089803G>C ENST00000320934.3 - 11 2031 c.1401C>G c.(1399-1401)ctC>ctG p.L467L PCSK7_ENST00000540028.1_Silent_p.L108L NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 467 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) TCCAGGCGTTGAGGAGGCCGA 0.602000 T IGH@ MLCLS 25 17 0 0 1 0 0 STARD5 80765 broad.mit.edu 37 15 81605709 81605709 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:81605709T>C ENST00000302824.6 - 6 555 c.530A>G c.(529-531)cAt>cGt p.H177R NM_181900.2 NP_871629.1 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer (START) domain containing 5 177 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding large_intestine(3)|ovary(1)|skin(1)|stomach(1) 6 GAGGTCGGTATGGAAGAATGT 0.562000 58 86 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36489566 36489566 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:36489566C>G ENST00000229812.7 - 5 620 c.335G>C c.(334-336)gGa>gCa p.G112A NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 112 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATACACATGTCCCGTATCTTT 0.358000 31 102 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204304271 204304271 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:204304271C>G ENST00000319170.5 - 14 3941 c.3642G>C c.(3640-3642)caG>caC p.Q1214H ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.Q1266H NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 1214 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AACCAGCCTTCTGTTGATCAG 0.562000 6 33 0 0 1 0 0 RNASEK 440400 broad.mit.edu 37 17 6915930 6915930 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:6915930G>C ENST00000593646.1 - 3 519 c.520C>G c.(520-522)Cgc>Ggc p.R174G RP11-589P10.7_ENST00000572547.1_RNA|RNASEK_ENST00000548577.1_Silent_p.A15A|RNASEK_ENST00000402093.1_5'UTR GCCCCCCTGCGAGGGCATCCT 0.692000 6 10 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88911234 88911234 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:88911234C>T ENST00000263321.5 + 1 615 c.113C>T c.(112-114)cCg>cTg p.P38L TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 38 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TGCTGTCCACCGTGGAGCGGG 0.547000 48 50 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162337159 162337159 + Nonsense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:162337159G>T ENST00000493151.1 + 2 2905 c.538G>T c.(538-540)Gag>Tag p.E180* NOS1AP_ENST00000530878.1_Nonsense_Mutation_p.E470*|NOS1AP_ENST00000361897.5_Nonsense_Mutation_p.E475*|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000454693.1_3'UTR NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 475 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CGAGAGCGAGGAGCGCGACTC 0.657000 7 97 0.00198382 0.00201455 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85456690 85456690 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:85456690C>T ENST00000316356.4 - 4 943 c.379G>A c.(379-381)Gca>Aca p.A127T SYTL2_ENST00000527523.1_Missense_Mutation_p.A79T|SYTL2_ENST00000524452.1_Missense_Mutation_p.A127T|SYTL2_ENST00000528231.1_Missense_Mutation_p.A127T|SYTL2_ENST00000389960.4_Missense_Mutation_p.A127T Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 127 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTCGGGCTTGCTGGTGCTGCA 0.532000 78 192 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74892219 74892219 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:74892219C>G ENST00000241436.4 + 13 1873 c.1701C>G c.(1699-1701)ttC>ttG p.F567L POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.F369L|POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Missense_Mutation_p.F369L|POLK_ENST00000380481.3_Missense_Mutation_p.F477L NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 567 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AGAAGAGTTTCTTTGATAAAA 0.373000 DNA polymerases (catalytic subunits) 13 11 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128804637 128804637 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:128804637T>C ENST00000270861.5 + 4 540 c.266T>C c.(265-267)tTa>tCa p.L89S PLK4_ENST00000514379.1_Missense_Mutation_p.L48S|PLK4_ENST00000515069.1_Missense_Mutation_p.L89S|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000513090.1_Missense_Mutation_p.L57S|PLK4_ENST00000507249.1_Missense_Mutation_p.L89S NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 89 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TATCTGGTATTAGAAATGTGC 0.308000 18 27 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39313505 39313505 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:39313505C>G ENST00000287152.7 - 21 2386 c.2292G>C c.(2290-2292)caG>caC p.Q764H KIF6_ENST00000373216.3_Missense_Mutation_p.Q747H|KIF6_ENST00000373215.3_Missense_Mutation_p.Q747H|KIF6_ENST00000541946.1_Missense_Mutation_p.Q215H|KIF6_ENST00000538893.1_Missense_Mutation_p.Q708H|KIF6_ENST00000229913.5_Missense_Mutation_p.Q215H|KIF6_ENST00000394362.1_Missense_Mutation_p.Q198H|KIF6_ENST00000373213.4_Missense_Mutation_p.Q603H NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 764 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGGTGCTGCTCTGTTTCTGGC 0.557000 27 37 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5352201 5352201 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:5352201C>A ENST00000225296.3 - 11 1943 c.1743G>T c.(1741-1743)gaG>gaT p.E581D DHX33_ENST00000433302.3_Missense_Mutation_p.E357D NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 581 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding p.E581D(1) breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGACAAAATTCTCTTTGCACC 0.458000 15 28 8.28177e-16 8.78111e-16 1 1 0 ZNF536 9745 broad.mit.edu 37 19 31040309 31040309 + Silent SNP G G A rs139373364 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:31040309G>A ENST00000355537.3 + 4 3930 c.3783G>A c.(3781-3783)ccG>ccA p.P1261P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGGACAAGCCGATGAACATGC 0.597000 9 27 0 0 1 0 0 CYP20A1 57404 broad.mit.edu 37 2 204154576 204154576 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:204154576G>A ENST00000356079.4 + 10 1183 c.1060G>A c.(1060-1062)Gac>Aac p.D354N CYP20A1_ENST00000429815.2_Missense_Mutation_p.D362N|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 354 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 AGGAAAAATTGACCGATTTAT 0.333000 42 23 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132211337 132211337 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:132211337C>T ENST00000260818.6 + 33 3951 c.3703C>T c.(3703-3705)Cag>Tag p.Q1235* NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1235 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AGCACTTTATCAGTATTGCCC 0.403000 147 176 0 0 1 0 0 HAPLN2 60484 broad.mit.edu 37 1 156593740 156593740 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:156593740G>C ENST00000255039.1 + 4 634 c.227G>C c.(226-228)gGg>gCg p.G76A NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 76 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTGGAGCCTGGGGAGCTCCGG 0.682000 20 9 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38910244 38910244 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:38910244G>A ENST00000312150.4 - 3 597 c.537C>T c.(535-537)caC>caT p.H179H NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 179 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CTACACTCTGGTGAAGAGCCA 0.408000 13 71 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40512774 40512774 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:40512774T>C ENST00000287598.6 + 23 3162 c.2967T>C c.(2965-2967)gaT>gaC p.D989D PAK6_ENST00000453867.1_Intron|BUB1B_ENST00000412359.3_Silent_p.D1003D|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron NM_001211.5 NP_001202 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 989 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GGCTAAAAGATGGTGAATTGT 0.358000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 16 58 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31737803 31737803 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:31737803G>A ENST00000375686.3 - 8 1412 c.1175C>T c.(1174-1176)cCt>cTt p.P392L VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.P392L|VWA7_ENST00000375688.4_Missense_Mutation_p.P392L NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 392 extracellular region GCACATCTCAGGCTCGTCTCC 0.622000 32 80 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46766860 46766860 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:46766860G>A ENST00000230588.4 + 5 213 c.204G>A c.(202-204)ctG>ctA p.L68L NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 68 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GAAATGGCCTGAGAGACCCAA 0.428000 37 112 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184607795 184607795 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:184607795C>T ENST00000334690.6 + 18 1989 c.1787C>T c.(1786-1788)gCc>gTc p.A596V TRAPPC11_ENST00000512476.1_Missense_Mutation_p.A202V|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.A596V NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 596 AAGTTTCATGCCCCAAGTTTT 0.413000 75 151 0 0 1 0 0 TRNAU1AP 54952 broad.mit.edu 37 1 28898397 28898397 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:28898397G>C ENST00000373830.3 + 8 738 c.712G>C c.(712-714)Gat>Cat p.D238H NM_017846.4 NP_060316.1 Q9NX07 TSAP1_HUMAN tRNA selenocysteine 1 associated protein 1 238 selenocysteine incorporation cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 8 AGAAGTTGGAGATGATGCATT 0.473000 40 88 0 0 1 0 0 IL24 11009 broad.mit.edu 37 1 207072706 207072706 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:207072706A>G ENST00000367093.3 + 3 363 c.89A>G c.(88-90)cAg>cGg p.Q30R IL24_ENST00000391929.3_Missense_Mutation_p.Q30R|IL24_ENST00000294984.2_Missense_Mutation_p.Q29R|IL24_ENST00000491169.1_Intron NM_001185157.1|NM_001185158.1 NP_001172086.1|NP_001172087.1 Q13007 IL24_HUMAN interleukin 24 29 apoptosis extracellular space cytokine activity endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) TCTCAAATGCAGATGGTTGTG 0.587000 38 29 0 0 1 0 0 ABHD12 26090 broad.mit.edu 37 20 25297683 25297683 + Splice_Site SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:25297683C>A ENST00000339157.5 - 5 846 c.e5+1 ABHD12_ENST00000376542.3_Splice_Site NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 CCTGCACTCACCTTGTAAAGC 0.547000 31 55 2.40579e-17 2.56215e-17 1 1 0 SV2B 9899 broad.mit.edu 37 15 91810843 91810843 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:91810843T>C ENST00000394232.1 + 8 1648 c.1178T>C c.(1177-1179)cTg>cCg p.L393P SV2B_ENST00000330276.4_Missense_Mutation_p.L393P|SV2B_ENST00000545111.2_Missense_Mutation_p.L242P NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 393 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) ACACTGATTCTGGCCGTGGTT 0.443000 4 28 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134026030 134026030 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:134026030G>A ENST00000359428.5 + 16 2299 c.2155G>A c.(2155-2157)Gag>Aag p.E719K NUP214_ENST00000411637.2_Missense_Mutation_p.E709K|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.E720K|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 719 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GGAGTTGGAAGAGTTAAAAGC 0.438000 T """DEK, SET, ABL1""" """AML, T-ALL""" 15 79 0 0 1 0 0 GMFB 2764 broad.mit.edu 37 14 54948149 54948149 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:54948149C>T ENST00000358056.3 - 4 446 c.178G>A c.(178-180)Gaa>Aaa p.E60K GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000554908.1_3'UTR NM_004124.2 NP_004115.1 P60983 GMFB_HUMAN glia maturation factor, beta 60 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1) 8 TCAGGTAGTTCATCTTTAAGT 0.378000 6 42 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376899 138376899 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:138376899C>T ENST00000356818.2 + 4 1092 c.543C>T c.(541-543)gcC>gcT p.A181A PPP1R26_ENST00000401470.3_Silent_p.A181A|PPP1R26_ENST00000605286.1_Silent_p.A181A|PPP1R26_ENST00000605660.1_Silent_p.A181A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.A181A NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 181 nucleolus protein binding ACGGCAGTGCCCCGACTGCCC 0.706000 13 48 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56538546 56538546 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:56538546T>A ENST00000390649.3 + 7 947 c.947T>A c.(946-948)gTc>gAc p.V316D NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 316 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCTCCTACGTCTTCTTCCTC 0.567000 8 14 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46628332 46628332 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:46628332C>T ENST00000470495.1 - 2 2107 c.660G>A c.(658-660)gaG>gaA p.E220E HOXB3_ENST00000498678.1_Silent_p.E220E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000460160.1_Silent_p.E88E|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Silent_p.E147E|HOXB3_ENST00000485909.2_Silent_p.E88E|HOXB3_ENST00000311626.4_Silent_p.E220E|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Silent_p.E147E|HOXB3_ENST00000476342.1_Silent_p.E220E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Silent_p.E86E P14651 HXB3_HUMAN homeobox B3 220 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GGTTGGCCATCTCTACACGGC 0.607000 53 229 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32086844 32086844 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:32086844T>G ENST00000375201.4 - 10 1077 c.1032A>C c.(1030-1032)aaA>aaC p.K344N ATF6B_ENST00000375203.3_Missense_Mutation_p.K347N Q99941 ATF6B_HUMAN activating transcription factor 6 beta 347 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 GCAGATACTCTTTCTTCTTTC 0.607000 24 34 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109940905 109940905 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:109940905T>A ENST00000342494.3 + 14 1955 c.1360T>A c.(1360-1362)Tct>Act p.S454T UBE3B_ENST00000434735.2_Missense_Mutation_p.S454T|UBE3B_ENST00000280774.5_Missense_Mutation_p.S454T|UBE3B_ENST00000535900.1_3'UTR NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 454 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 ACGGGTCGACTCTGCAGAAGT 0.512000 19 87 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35478696 35478696 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:35478696C>G ENST00000229771.6 - 5 520 c.441G>C c.(439-441)ctG>ctC p.L147L TULP1_ENST00000322263.4_Silent_p.L94L NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 147 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 TCTTCTCTCTCAGGGGCTTCT 0.592000 41 104 0 0 1 0 0 FAM168B 130074 broad.mit.edu 37 2 131810476 131810476 + Nonstop_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:131810476T>C ENST00000409185.1 - 6 695 c.588A>G c.(586-588)tgA>tgG p.*196W FAM168B_ENST00000389915.3_Nonstop_Mutation_p.*196W NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 0 endometrium(3)|lung(2) 5 TTGCAGGTGATCACCACTGAG 0.557000 3 8 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11287304 11287304 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:11287304G>A ENST00000432929.2 - 7 2094 c.1734C>T c.(1732-1734)caC>caT p.H578H KANK2_ENST00000589894.1_Silent_p.H570H|KANK2_ENST00000589359.1_Silent_p.H578H|KANK2_ENST00000355150.5_Silent_p.H570H|KANK2_ENST00000586659.1_Silent_p.H570H NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 570 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CAGTGGGTATGTGCTGAGATT 0.632000 70 244 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206320303 206320303 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:206320303G>A ENST00000361052.3 + 4 564 c.446G>A c.(445-447)gGa>gAa p.G149E CTSE_ENST00000360218.2_Missense_Mutation_p.G149E|CTSE_ENST00000432969.2_Missense_Mutation_p.G74E|CTSE_ENST00000358184.2_Missense_Mutation_p.G149E|CTSE_ENST00000468617.1_3'UTR P14091 CATE_HUMAN cathepsin E 149 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) GGGATCATTGGAGCCGACCAA 0.493000 30 35 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760793 62760793 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:62760793C>G ENST00000336232.2 - 11 1680 c.1545G>C c.(1543-1545)aaG>aaC p.K515N SLC22A8_ENST00000535878.1_Missense_Mutation_p.K392N|SLC22A8_ENST00000430500.2_Missense_Mutation_p.K515N|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.K424N NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 515 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GCTTTGGCTTCTTTGCCCGCA 0.632000 10 28 0 0 1 0 0 TMEM72 643236 broad.mit.edu 37 10 45430144 45430144 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:45430144G>C ENST00000544540.1 + 4 520 c.36G>C c.(34-36)ctG>ctC p.L12L TMEM72-AS1_ENST00000450287.2_RNA A0PK05 TMM72_HUMAN transmembrane protein 72 130 integral to membrane breast(2)|kidney(1)|large_intestine(2)|lung(10) 15 ACTTCCTTCTGAGCAAGCGGA 0.602000 16 148 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49393605 49393605 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:49393605G>A ENST00000374201.3 - 18 2652 c.2350C>T c.(2350-2352)Cgt>Tgt p.R784C FRMPD2_ENST00000407470.4_Missense_Mutation_p.R752C|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R759C NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 784 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding p.R784C(1) NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CCAAAACCACGATGTGGGTCA 0.502000 19 111 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1855420 1855420 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:1855420G>A ENST00000399161.2 - 19 3514 c.2767C>T c.(2767-2769)Cat>Tat p.H923Y MYT1L_ENST00000428368.2_Missense_Mutation_p.H921Y NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 923 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TACCTCCGATGAGAAGCATAA 0.433000 49 110 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123434347 123434347 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:123434347C>T ENST00000542678.1 - 4 3673 c.835G>A c.(835-837)Gag>Aag p.E279K ABCB9_ENST00000392439.3_Missense_Mutation_p.E279K|ABCB9_ENST00000442833.2_Missense_Mutation_p.E279K|ABCB9_ENST00000280560.8_Missense_Mutation_p.E279K|ABCB9_ENST00000346530.5_Missense_Mutation_p.E279K|ABCB9_ENST00000344275.7_Missense_Mutation_p.E279K|ABCB9_ENST00000442028.2_Missense_Mutation_p.E279K|ABCB9_ENST00000540285.1_Missense_Mutation_p.E279K Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 279 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GTGCGGTTCTCATCAAAGAAG 0.572000 23 74 0 0 1 0 0 SRSF2 6427 broad.mit.edu 37 17 74732409 74732409 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:74732409C>T ENST00000392485.2 - 2 672 c.500G>A c.(499-501)cGa>cAa p.R167Q SRSF2_ENST00000359995.5_Missense_Mutation_p.R167Q|SRSF2_ENST00000508921.3_Missense_Mutation_p.R155Q|MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 167 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 CTTGGACCTTCGTGCGGATCT 0.622000 Mis """MDS, CLL""" 20 92 0 0 1 0 0 DCAF10 79269 broad.mit.edu 37 9 37861326 37861326 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:37861326G>A ENST00000242323.7 + 6 1464 c.1390G>A c.(1390-1392)Gac>Aac p.D464N DCAF10_ENST00000377724.3_Missense_Mutation_p.D501N|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_3'UTR Q5QP82 DCA10_HUMAN DDB1 and CUL4 associated factor 10 501 CUL4 RING ubiquitin ligase complex central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 12 GTTGGGATTTGACAAACAGTG 0.488000 36 127 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39755585 39755585 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:39755585C>A ENST00000442448.1 - 11 1400 c.1129G>T c.(1129-1131)Ggg>Tgg p.G377W ERG_ENST00000398910.1_Missense_Mutation_p.G378W|ERG_ENST00000288319.7_Missense_Mutation_p.G394W|ERG_ENST00000398907.1_Missense_Mutation_p.G371W|ERG_ENST00000398919.2_Missense_Mutation_p.G401W|ERG_ENST00000398897.1_Missense_Mutation_p.G278W|ERG_ENST00000398905.1_Missense_Mutation_p.G370W|ERG_ENST00000417133.2_Missense_Mutation_p.G401W|ERG_ENST00000453032.2_Missense_Mutation_p.G302W|ERG_ENST00000398911.1_Missense_Mutation_p.G377W NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 401 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TGGGCGATCCCGTGGAAGTCG 0.582000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 56 98 1.2582e-26 1.356e-26 1 1 0 ZNF385D 79750 broad.mit.edu 37 3 21466996 21466996 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:21466996C>G ENST00000281523.2 - 6 1358 c.840G>C c.(838-840)acG>acC p.T280T NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 280 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GTTTAAGTTGCGTTTCCGAGT 0.413000 9 67 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78649289 78649289 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:78649289C>T ENST00000436010.2 - 28 5795 c.4798G>A c.(4798-4800)Gga>Aga p.G1600R ROBO1_ENST00000464233.1_Missense_Mutation_p.G1639R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1594R|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1539R|ROBO1_ENST00000466906.1_5'UTR Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1639 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTATCTTCTCCTCTTTCATAT 0.363000 3 17 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61099151 61099151 + Missense_Mutation SNP G G A rs35597036 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:61099151G>A ENST00000301764.7 - 2 471 c.74C>T c.(73-75)tCg>tTg p.S25L DDB1_ENST00000450997.2_Missense_Mutation_p.S25L NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 25 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GTCTTCGGCCGAAGTAAAGTG 0.468000 Nucleotide excision repair (NER) 19 70 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49379181 49379181 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49379181C>T ENST00000200453.5 + 3 2245 c.1976C>T c.(1975-1977)tCg>tTg p.S659L NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 659 apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CCTTCCCGCTCGTCTGCTGCT 0.567000 82 169 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54003547 54003547 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:54003547A>G ENST00000396328.1 - 8 1082 c.843T>C c.(841-843)taT>taC p.Y281Y WDR72_ENST00000557913.1_Silent_p.Y280Y|WDR72_ENST00000559418.1_Silent_p.Y281Y|WDR72_ENST00000360509.5_Silent_p.Y281Y NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 281 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TCAGCAGCTGATAGATGTAAC 0.448000 34 58 0 0 1 0 0 CDK15 65061 broad.mit.edu 37 2 202744799 202744799 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:202744799A>C ENST00000450471.2 + 12 1193 c.1107A>C c.(1105-1107)aaA>aaC p.K369N CDK15_ENST00000434439.1_Missense_Mutation_p.K369N|CDK15_ENST00000410091.3_Missense_Mutation_p.K318N|CDK15_ENST00000374598.4_Missense_Mutation_p.K369N|CDK15_ENST00000260967.2_Missense_Mutation_p.K318N NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 369 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) AGATGCTAAAAGGCTTTCCCA 0.542000 16 53 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369129 56369129 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:56369129G>A ENST00000301295.6 + 3 792 c.370G>A c.(370-372)Gag>Aag p.E124K NLRP4_ENST00000346986.5_Missense_Mutation_p.E124K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E49K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 124 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCTATACTTTGAGGAGGAAGT 0.473000 34 69 0 0 1 0 0 FAM98A 25940 broad.mit.edu 37 2 33813494 33813494 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:33813494G>A ENST00000403368.1 - 4 499 c.430C>T c.(430-432)Caa>Taa p.Q144* FAM98A_ENST00000238823.8_Nonsense_Mutation_p.Q144*|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 144 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) TTCAACTCTTGAAAGACCTCA 0.423000 35 87 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3786760 3786760 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:3786760A>G ENST00000262367.5 - 27 5260 c.4451T>C c.(4450-4452)tTc>tCc p.F1484S CREBBP_ENST00000382070.3_Missense_Mutation_p.F1446S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1484 Cys/His-rich.|Interaction with TRERF1. 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 NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGGCAATGGAAGATGTAATC 0.507000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 58 60 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211513262 211513262 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:211513262G>A ENST00000233072.5 + 27 3598 c.3402G>A c.(3400-3402)ttG>ttA p.L1134L CPS1_ENST00000430249.2_Silent_p.L1140L|CPS1_ENST00000451903.2_Silent_p.L683L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1134 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTATGTTTTGAGGTAACACT 0.348000 9 73 0 0 1 0 0 ARG2 384 broad.mit.edu 37 14 68086727 68086727 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:68086727C>T ENST00000261783.3 + 1 213 c.33C>T c.(31-33)ctC>ctT p.L11L ARG2_ENST00000556491.1_3'UTR NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 11 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding p.L11L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) CGCGTCTCCTCCAGACGCGAG 0.617000 3 17 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109793958 109793958 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:109793958C>G ENST00000271332.3 + 1 1318 c.1257C>G c.(1255-1257)ctC>ctG p.L419L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 419 Cadherin 3. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCCAGTACTCCGAGTCACAG 0.547000 62 85 0 0 1 0 0 VWA9 81556 broad.mit.edu 37 15 65871971 65871971 + Silent SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:65871971A>C ENST00000395644.4 - 12 1667 c.1332T>G c.(1330-1332)gcT>gcG p.A444A VWA9_ENST00000420799.2_Silent_p.A387A|VWA9_ENST00000431261.2_Silent_p.A365A|VWA9_ENST00000442903.3_Silent_p.A408A|VWA9_ENST00000567744.1_Silent_p.A480A|VWA9_ENST00000313182.2_Silent_p.A444A|VWA9_ENST00000569491.1_Silent_p.A394A von Willebrand factor A domain containing 9 CAAAGGCTAGAGCGGCCTTTC 0.507000 15 53 0 0 1 0 0 KATNB1 10300 broad.mit.edu 37 16 57787344 57787344 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:57787344G>A ENST00000379661.3 + 12 1482 c.1090G>A c.(1090-1092)Gag>Aag p.E364K NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 364 Interaction with PAFAH1B1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CCCCAGCAGCGAGGATGACCG 0.662000 10 77 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19321641 19321641 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:19321641G>A ENST00000261537.6 + 1 361 c.97G>A c.(97-99)Gag>Aag p.E33K MIB1_ENST00000578646.1_Intron NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 33 MIB/HERC2 1. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GGACGGCGGCGAGGGCCATGT 0.667000 14 22 0 0 1 0 0 EHD4 30844 broad.mit.edu 37 15 42202032 42202032 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:42202032C>T ENST00000220325.4 - 5 1037 c.954G>A c.(952-954)aaG>aaA p.K318K NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 318 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GCATCTCCTTCTTCAGGTAGC 0.438000 17 54 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128074826 128074826 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:128074826G>C ENST00000470056.1 + 7 1697 c.1537G>C c.(1537-1539)Gag>Cag p.E513Q GAPVD1_ENST00000265956.4_Missense_Mutation_p.E513Q|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E513Q|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E513Q|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E513Q|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E513Q|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E513Q|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E513Q Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 513 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GCAACCAGAAGAGGTGTTGGT 0.433000 35 55 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35059694 35059694 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:35059694G>A ENST00000358901.6 - 14 2695 c.1800C>T c.(1798-1800)gtC>gtT p.V600V NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 600 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCTGGTTGATGACTCGGTCAG 0.512000 111 102 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27809286 27809286 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:27809286G>A ENST00000261716.3 + 8 1154 c.635G>A c.(634-636)gGa>gAa p.G212E TAOK1_ENST00000536202.1_Missense_Mutation_p.G212E NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 212 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TGGTCTCTTGGAATAACATGT 0.318000 36 70 0 0 1 0 0 CCDC115 84317 broad.mit.edu 37 2 131098587 131098587 + Silent SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:131098587A>C ENST00000259229.2 - 4 547 c.324T>G c.(322-324)acT>acG p.T108T CCDC115_ENST00000409127.1_Silent_p.T103T|CCDC115_ENST00000437688.2_Silent_p.T103T NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 108 endosome|lysosome central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) CTGGGGTCTTAGTGGGGCCCT 0.552000 5 17 0 0 1 0 0 C2orf70 339778 broad.mit.edu 37 2 26799014 26799014 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:26799014C>T ENST00000409392.1 + 3 383 c.281C>T c.(280-282)tCg>tTg p.S94L C2orf70_ENST00000329615.3_Missense_Mutation_p.R107C A6NJV1 CB070_HUMAN chromosome 2 open reading frame 70 0 breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 13 GGACAGCCATCGCTCCACAGA 0.637000 81 113 0 0 1 0 0 RCN2 5955 broad.mit.edu 37 15 77241555 77241555 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:77241555G>A ENST00000394885.3 + 7 1169 c.946G>A c.(946-948)Gag>Aag p.E316K RCN2_ENST00000394883.3_Missense_Mutation_p.E215K|RCN2_ENST00000320963.5_Missense_Mutation_p.E334K NM_002902.2 NP_002893.1 Q14257 RCN2_HUMAN reticulocalbin 2, EF-hand calcium binding domain 316 endoplasmic reticulum lumen calcium ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(1) 7 CTATCATGATGAGCTTTAATC 0.388000 13 65 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7348315 7348315 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:7348315C>G ENST00000486284.1 + 4 1283 c.1009C>G c.(1009-1011)Cag>Gag p.Q337E GRM7_ENST00000357716.4_Missense_Mutation_p.Q337E|GRM7_ENST00000389336.4_Missense_Mutation_p.Q337E|GRM7_ENST00000402647.2_Missense_Mutation_p.Q337E|GRM7_ENST00000403881.1_Missense_Mutation_p.Q337E NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 337 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CATCACCATTCAGCCCAAGCG 0.507000 9 78 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 79 0 0 1 0 0 GUSBP1 728411 broad.mit.edu 37 5 21459830 21459830 + RNA SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:21459830C>T ENST00000607545.1 + 0 73 NR_027026.1 AGCTTGCGGTCACCATGGGCT 0.632000 OREG0016459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 96 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33259398 33259398 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:33259398G>C ENST00000314144.5 - 11 1450 c.1335C>G c.(1333-1335)ctC>ctG p.L445L CCT6B_ENST00000436961.3_Silent_p.L400L|CCT6B_ENST00000421975.3_Silent_p.L408L NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 445 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) TGGGAATAATGAGTAAGGCAT 0.383000 20 82 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91450061 91450061 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:91450061G>A ENST00000360468.3 + 6 945 c.927G>A c.(925-927)atG>atA p.M309I MAN2A2_ENST00000559717.1_Missense_Mutation_p.M309I NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 309 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TCACCAGCATGCTGATTCAGA 0.597000 24 69 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86305369 86305369 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:86305369C>T ENST00000263857.6 - 10 1503 c.1125G>A c.(1123-1125)ttG>ttA p.L375L POLR1A_ENST00000409681.1_Silent_p.L375L O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 375 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAAGTGTACTCAAAAAGGATC 0.423000 22 41 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66449393 66449393 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:66449393C>T ENST00000383703.3 - 11 1908 c.e11+1 LRIG1_ENST00000273261.3_Splice_Site|LRIG1_ENST00000496559.2_Splice_Site Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GAGATACTCACAGGTGCTCCA 0.498000 9 25 0 0 1 0 0 ASB1 51665 broad.mit.edu 37 2 239353166 239353166 + Silent SNP C C T rs144070003 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:239353166C>T ENST00000264607.4 + 4 925 c.678C>T c.(676-678)gtC>gtT p.V226V ASB1_ENST00000409297.1_Silent_p.V125V NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 226 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) ATGGTCCTGTCAACACACAGG 0.597000 6 99 0 0 1 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091387 19091387 + RNA SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:19091387G>C ENST00000365494.1 + 0 59 ttctctgaacgtgtagagcac 0.507000 22 475 0 0 1 0 0 LMBR1L 55716 broad.mit.edu 37 12 49494208 49494208 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:49494208G>A ENST00000267102.8 - 15 1545 c.1203C>T c.(1201-1203)gtC>gtT p.V401V LMBR1L_ENST00000547382.1_Silent_p.V381V|LMBR1L_ENST00000395141.4_Silent_p.V396V NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 401 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTGAGCTTAGGACCAGGAGAC 0.498000 49 105 0 0 1 0 0 C12orf56 115749 broad.mit.edu 37 12 64784273 64784273 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:64784273G>T ENST00000543942.2 - 1 699 c.73C>A c.(73-75)Ctg>Atg p.L25M C12orf56_ENST00000333722.5_Missense_Mutation_p.L25M|RPS11P6_ENST00000535684.1_RNA NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 25 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) TCGGGCGGCAGATGCCGCCGC 0.682000 29 46 9.65021e-13 1.01574e-12 1 1 0 RASIP1 54922 broad.mit.edu 37 19 49238513 49238513 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49238513G>A ENST00000222145.4 - 4 1323 c.1119C>T c.(1117-1119)ctC>ctT p.L373L RASIP1_ENST00000594232.1_5'UTR NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 373 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GGGCCTGGATGAGGCACTGAG 0.667000 19 59 0 0 1 0 0 THAP11 57215 broad.mit.edu 37 16 67877394 67877394 + Nonsense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:67877394G>T ENST00000303596.1 + 1 1182 c.937G>T c.(937-939)Gga>Tga p.G313* CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CAAGAAGCACGGAATGTGAAC 0.612000 31 39 6.53348e-20 6.98908e-20 1 1 0 DPP10 57628 broad.mit.edu 37 2 116572442 116572442 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:116572442G>A ENST00000410059.1 + 20 2254 c.1774G>A c.(1774-1776)Gat>Aat p.D592N DPP10_ENST00000310323.8_Missense_Mutation_p.D585N|DPP10_ENST00000409163.1_Missense_Mutation_p.D542N|DPP10_ENST00000393147.2_Missense_Mutation_p.D596N NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 592 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CATTGACATGGATAATGTCAT 0.413000 20 73 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62993932 62993932 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:62993932C>T ENST00000251157.5 - 31 3859 c.3826G>A c.(3826-3828)Gat>Aat p.D1276N DOCK7_ENST00000340370.5_Missense_Mutation_p.D1245N NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1276 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CTTTCATAATCATCAGTGGCT 0.408000 14 22 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69737226 69737226 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:69737226C>T ENST00000260363.4 + 19 2594 c.2477C>T c.(2476-2478)tCt>tTt p.S826F KIF23_ENST00000558585.1_Missense_Mutation_p.S539F|KIF23_ENST00000559279.1_Missense_Mutation_p.S722F|KIF23_ENST00000352331.4_Missense_Mutation_p.S722F|KIF23_ENST00000537891.1_Missense_Mutation_p.S539F|KIF23_ENST00000395392.2_Missense_Mutation_p.S819F NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 826 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 AAGCCCGCCTCTAACATGCAA 0.478000 56 78 0 0 1 0 0 PPP2R3C 55012 broad.mit.edu 37 14 35557192 35557192 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:35557192G>A ENST00000261475.5 - 12 1491 c.1138C>T c.(1138-1140)Cat>Tat p.H380Y NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 380 centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) TCTTGTCCATGGATTTTCATT 0.308000 13 24 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169759031 169759031 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:169759031G>A ENST00000375363.3 + 2 387 c.295G>A c.(295-297)Gaa>Aaa p.E99K G6PC2_ENST00000429379.2_Missense_Mutation_p.E99K|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Intron NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 99 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 TCCATGCCTTGAACAGTTCCC 0.393000 14 63 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228157990 228157990 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:228157990A>T ENST00000396578.3 + 38 3456 c.3294A>T c.(3292-3294)ggA>ggT p.G1098G AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1098 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCCTGCTGGACCTGAGGGAG 0.527000 3 29 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47858172 47858172 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:47858172G>A ENST00000359568.5 + 41 9302 c.9195G>A c.(9193-9195)gaG>gaA p.E3065E PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 3065 Interaction with NEK2. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGACCCAGGAGAAGCTGGAGC 0.527000 8 61 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179480041 179480041 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:179480041C>T ENST00000589042.1 - 259 48855 c.48631G>A c.(48631-48633)Gaa>Aaa p.E16211K TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E14570K|TTN_ENST00000342175.6_Missense_Mutation_p.E7338K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7146K|TTN_ENST00000342992.6_Missense_Mutation_p.E13643K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7271K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14570 Fibronectin type-III 17. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACTTTGTTTCTGCAACAGGT 0.373000 23 36 0 0 1 0 0 VWC2 375567 broad.mit.edu 37 7 49815164 49815164 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:49815164C>G ENST00000340652.4 + 2 689 c.133C>G c.(133-135)Cag>Gag p.Q45E NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GCAGCCGGGCCAGGAGAAGCG 0.716000 9 6 0 0 1 0 0 MIR9-3 407051 broad.mit.edu 37 15 89911325 89911325 + RNA SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:89911325G>A ENST00000385084.1 + 0 78 NR_029692.1 ACCGAAAGTAGAAATGATTCT 0.627000 13 18 0 0 1 0 0 MIPEP 4285 broad.mit.edu 37 13 24449002 24449002 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:24449002G>A ENST00000382172.3 - 5 684 c.586C>T c.(586-588)Cat>Tat p.H196Y NM_005932.3 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase 196 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) TTGTCTAGATGGATTCCACTA 0.323000 27 109 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12897026 12897026 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:12897026C>T ENST00000338034.4 - 23 2470 c.2231G>A c.(2230-2232)gGa>gAa p.G744E ELAC2_ENST00000426905.3_Missense_Mutation_p.G704E|ELAC2_ENST00000395962.2_Missense_Mutation_p.G725E NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 744 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 AAAGGCAACTCCCACTTTCTC 0.577000 15 113 0 0 1 0 0 DEF6 50619 broad.mit.edu 37 6 35288972 35288972 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:35288972C>T ENST00000316637.5 + 11 1686 c.1681C>T c.(1681-1683)Ccg>Tcg p.P561S DEF6_ENST00000542066.1_Missense_Mutation_p.P306S NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 561 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 AGATAAGCGTCCGGTCACCAG 0.627000 189 298 0 0 1 0 0 COG1 9382 broad.mit.edu 37 17 71192710 71192710 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:71192710T>A ENST00000299886.4 + 2 460 c.380T>A c.(379-381)aTt>aAt p.I127N RP11-143K11.5_ENST00000580671.1_RNA NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 127 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) CTCTTAGAAATTCCGGAGAAG 0.557000 65 118 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17696270 17696270 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:17696270C>G ENST00000353383.1 + 3 477 c.8C>G c.(7-9)tCt>tGt p.S3C RAI1_ENST00000261641.6_Missense_Mutation_p.S3C NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 3 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GTCATGCAGTCTTTTCGAGAA 0.552000 21 33 0 0 1 0 0 TRAM1 23471 broad.mit.edu 37 8 71510491 71510491 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:71510491C>T ENST00000521425.1 - 3 966 c.e3-1 TRAM1_ENST00000262213.2_Splice_Site|TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site Q15629 TRAM1_HUMAN translocation associated membrane protein 1 cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) GCTTGTTCTTCTGAAGACCAA 0.333000 13 35 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671488 39671488 + Nonsense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:39671488C>G ENST00000328656.4 + 4 608 c.305C>G c.(304-306)tCa>tGa p.S102* KCNJ15_ENST00000398932.1_Nonsense_Mutation_p.S102*|KCNJ15_ENST00000398934.1_Nonsense_Mutation_p.S102*|KCNJ15_ENST00000398930.1_Nonsense_Mutation_p.S102*|KCNJ15_ENST00000398938.2_Nonsense_Mutation_p.S102* NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3 NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 GAGCCCATTTCAAATCATACC 0.493000 52 69 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33916209 33916209 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:33916209C>T ENST00000389232.4 + 20 2629 c.2559C>T c.(2557-2559)ccC>ccT p.P853P RYR3_ENST00000415757.3_Silent_p.P853P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 853 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCCATGCCCCGTAGACACCA 0.438000 76 129 0 0 1 0 0 KCNK7 10089 broad.mit.edu 37 11 65363055 65363055 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:65363055C>A ENST00000394216.2 - 1 412 c.189G>T c.(187-189)ctG>ctT p.L63L KCNK7_ENST00000340313.4_Silent_p.L63L|KCNK7_ENST00000342202.4_Silent_p.L63L|KCNK7_ENST00000394217.2_Silent_p.L63L NM_005714.1|NM_033455.1 NP_005705.1|NP_258416.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 63 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 GCAGCTCTTCCAGAGCTCCGG 0.687000 8 7 0.000157383 0.000160727 1 1 0 SLC29A2 3177 broad.mit.edu 37 11 66134033 66134033 + Missense_Mutation SNP C C T rs141666252 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:66134033C>T ENST00000357440.2 - 8 964 c.736G>A c.(736-738)Gag>Aag p.E246K SLC29A2_ENST00000546034.1_Missense_Mutation_p.E246K|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E246K NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 246 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 ATCCCGTTCTCATCTGGGGTG 0.577000 25 66 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49198014 49198014 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:49198014C>G ENST00000262013.7 - 1 212 c.4G>C c.(4-6)Gag>Cag p.E2Q SPAG9_ENST00000357122.4_Missense_Mutation_p.E2Q|SPAG9_ENST00000505279.1_Missense_Mutation_p.E2Q NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 2 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TCCTCCAGCTCCATGGTGGCA 0.746000 5 8 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94461703 94461703 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:94461703G>C ENST00000370225.3 - 49 6864 c.6778C>G c.(6778-6780)Ctg>Gtg p.L2260V ABCA4_ENST00000536513.1_Missense_Mutation_p.L530V|ABCA4_ENST00000535881.1_Missense_Mutation_p.L379V NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2260 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CGAGGGTGCAGAGGGAGGTCA 0.517000 22 64 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3869809 3869809 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:3869809C>T ENST00000316562.4 + 1 68 c.62C>T c.(61-63)tCt>tTt p.S21F PANK2_ENST00000497424.1_Intron NM_153638.2 NP_705902.2 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 21 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCACTCTCTTCTGGGCTACAC 0.677000 19 14 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117864827 117864827 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:117864827C>A ENST00000297338.2 - 10 1569 c.1282G>T c.(1282-1284)Gag>Tag p.E428* NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 428 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TGCTGGTCCTCTCTAGGAACC 0.413000 18 126 6.33239e-15 6.6847e-15 1 1 0 PSD3 23362 broad.mit.edu 37 8 18729886 18729886 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:18729886C>T ENST00000440756.2 - 3 590 c.488G>A c.(487-489)aGt>aAt p.S163N PSD3_ENST00000523619.1_Missense_Mutation_p.S98N|PSD3_ENST00000327040.8_Missense_Mutation_p.S163N Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 163 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) AACTGAAAAACTAGAAACAGC 0.443000 9 31 0 0 1 0 0 ATG14 22863 broad.mit.edu 37 14 55852662 55852662 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:55852662C>A ENST00000247178.5 - 5 597 c.562G>T c.(562-564)Gag>Tag p.E188* NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 188 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 GCCAGACGCTCATAATGACTT 0.423000 7 39 0.000442599 0.00045009 1 1 0 EFHC1 114327 broad.mit.edu 37 6 52344529 52344529 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:52344529C>T ENST00000371068.5 + 9 1687 c.1584C>T c.(1582-1584)ctC>ctT p.L528L EFHC1_ENST00000433625.2_Silent_p.L437L|EFHC1_ENST00000538167.1_Silent_p.L509L NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 528 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) CAGAAGCACTCGCGTCAATTC 0.478000 39 59 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24538094 24538094 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:24538094C>T ENST00000355123.4 - 3 475 c.e3-1 ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site|ITSN2_ENST00000407704.1_Splice_Site NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGGCCCTCCTGAAACATAA 0.358000 14 43 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155158295 155158295 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:155158295G>C ENST00000357232.4 - 25 6143 c.6144C>G c.(6142-6144)atC>atG p.I2048M NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATACGGGACTGATAGTAAATA 0.383000 14 17 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791720 51791720 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:51791720C>T ENST00000251076.5 - 18 3988 c.3701G>A c.(3700-3702)aGa>aAa p.R1234K DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1234 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GTCTATAGATCTAAGAAGAAC 0.428000 30 53 0 0 1 0 0 CWF19L2 143884 broad.mit.edu 37 11 107205622 107205622 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:107205622T>A ENST00000282251.5 - 16 2451 c.2424A>T c.(2422-2424)aaA>aaT p.K808N NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 808 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTCTGATATCTTTTGAAGAGA 0.338000 12 77 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58131977 58131977 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:58131977G>C ENST00000396161.5 + 3 800 c.490G>C c.(490-492)Gag>Cag p.E164Q NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 164 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CAGGAGCACTGAGAGTGGGGA 0.488000 22 35 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86223790 86223790 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:86223790C>G ENST00000314673.3 - 25 2731 c.2555G>C c.(2554-2556)aGa>aCa p.R852T SNX14_ENST00000346348.3_Missense_Mutation_p.R799T|SNX14_ENST00000513865.1_Missense_Mutation_p.R571T|SNX14_ENST00000505648.1_Missense_Mutation_p.R800T|SNX14_ENST00000369627.2_Missense_Mutation_p.R843T|SNX14_ENST00000508980.1_5'UTR NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 852 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ATACAAACCTCTGAGAAGTGT 0.318000 34 36 0 0 1 0 0 TRAV3 28690 broad.mit.edu 37 14 22192435 22192435 + RNA SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:22192435C>T ENST00000390425.2 + 0 386 TGAAATACATCACAGGGGATA 0.458000 24 44 0 0 1 0 0 IGLV9-49 28773 broad.mit.edu 37 22 22697785 22697785 + RNA SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:22697785C>G ENST00000427632.2 + 0 110 TGTGCTGACTCAGCCACCTTC 0.587000 OREG0026357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 58 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7974989 7974989 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:7974989C>T ENST00000545011.1 + 3 373 c.308C>T c.(307-309)aCg>aTg p.T103M MAP2K7_ENST00000397983.3_Missense_Mutation_p.T119M|MAP2K7_ENST00000397979.3_Missense_Mutation_p.T103M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T103M O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 103 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) ATGAAGCAGACGGGCTACCTG 0.647000 7 18 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43927050 43927050 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:43927050C>T ENST00000537548.1 - 8 1430 c.1186G>A c.(1186-1188)Gag>Aag p.E396K MATN4_ENST00000372751.4_Missense_Mutation_p.E247K|MATN4_ENST00000360607.6_Missense_Mutation_p.E355K|MATN4_ENST00000342716.4_Missense_Mutation_p.E396K|MATN4_ENST00000372754.1_Missense_Mutation_p.E437K|MATN4_ENST00000353917.5_Missense_Mutation_p.E314K|MATN4_ENST00000372756.1_Missense_Mutation_p.E396K O95460 MATN4_HUMAN matrilin 4 437 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AGAGGGAACTCGGTGCGCACG 0.657000 93 64 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28897267 28897267 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:28897267C>T ENST00000375664.4 + 8 1546 c.937C>T c.(937-939)Cag>Tag p.Q313* WAC_ENST00000428935.1_Nonsense_Mutation_p.Q313*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q210*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q358*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q255* Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TCCCTTACTTCAGGACCCAAA 0.458000 6 37 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104337528 104337528 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:104337528A>C ENST00000358755.4 + 4 1511 c.1194A>C c.(1192-1194)caA>caC p.Q398H FZD6_ENST00000540287.1_Missense_Mutation_p.Q93H|FZD6_ENST00000523739.1_Missense_Mutation_p.Q366H|FZD6_ENST00000522566.1_Missense_Mutation_p.Q398H NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 398 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ATGTTCGACAAGTCATACAAC 0.408000 68 194 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94134384 94134384 + Silent SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:94134384G>T ENST00000243673.2 - 1 201 c.30C>A c.(28-30)ctC>ctA p.L10L GPR83_ENST00000539203.2_Silent_p.L10L NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 10 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCAAGGGGAGGAGACAGAGCA 0.711000 18 46 2.94398e-08 3.05412e-08 1 1 0 TRAV3 28690 broad.mit.edu 37 14 22192379 22192379 + RNA SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:22192379C>G ENST00000390425.2 + 0 330 AAACCCTTATCTTTTTTGGTA 0.478000 24 44 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113532536 113532536 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:113532536G>C ENST00000487903.1 + 29 3421 c.3333G>C c.(3331-3333)aaG>aaC p.K1111N ATP11A_ENST00000375645.3_Missense_Mutation_p.K1111N|ATP11A_ENST00000375630.2_Intron|ATP11A_ENST00000283558.8_Missense_Mutation_p.K1111N P98196 AT11A_HUMAN ATPase, class VI, type 11A 1111 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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_lung(25;0.134)|all_epithelial(44;0.141) CTAAGACTAAGAGCCAGTGCC 0.527000 30 66 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15355563 15355563 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:15355563C>T ENST00000263377.2 - 12 2390 c.2169G>A c.(2167-2169)ccG>ccA p.P723P NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 723 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding p.P723P(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TTTTTGACTTCGGAGCCATCT 0.567000 T C15orf55 lethal midline carcinoma of young people 34 172 0 0 1 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309762 1309762 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:1309762C>G ENST00000338370.3 - 2 516 c.116G>C c.(115-117)aGc>aCc p.S39T AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S39T|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S39T|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S39T Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 39 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGGCGATGTGCTGTAAAGGGG 0.706000 7 9 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159091596 159091596 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:159091596A>G ENST00000592057.1 - 2 1334 c.932T>C c.(931-933)gTt>gCt p.V311A FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Intron Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 0 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GCTGCAAATAACGAAGCATGT 0.468000 23 39 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15942889 15942889 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:15942889G>A ENST00000268712.3 - 44 7070 c.6813C>T c.(6811-6813)ctC>ctT p.L2271L NCOR1_ENST00000395857.3_Silent_p.L855L|NCOR1_ENST00000395851.1_Silent_p.L2168L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2271 ID2 (By similarity).|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGCTTCCCATGAGAGCCTTCC 0.473000 11 31 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42840425 42840425 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:42840425G>A ENST00000398585.3 - 12 1383 c.1323C>T c.(1321-1323)ctC>ctT p.L441L TMPRSS2_ENST00000332149.5_Silent_p.L404L|TMPRSS2_ENST00000458356.1_Silent_p.L404L NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 404 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GTGTCTCAATGAGAAGCACCT 0.542000 T """ERG, ETV1, ETV4, ETV5""" prostate 29 45 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28916515 28916515 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:28916515G>A ENST00000257192.4 + 9 1416 c.1204G>A c.(1204-1206)Gat>Aat p.D402N NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 402 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGGATCAAATGATAAAGTGGG 0.383000 12 43 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58855765 58855765 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:58855765G>C ENST00000414170.3 + 9 1518 c.1231G>C c.(1231-1233)Ggc>Cgc p.G411R LIPC_ENST00000356113.6_Missense_Mutation_p.G411R|LIPC_ENST00000299022.5_Missense_Mutation_p.G411R|LIPC_ENST00000433326.2_Missense_Mutation_p.G350R P11150 LIPC_HUMAN lipase, hepatic 411 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TGTGGATATCGGCGAGCTGAT 0.468000 31 139 0 0 1 0 0 KIAA1279 26128 broad.mit.edu 37 10 70748916 70748916 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:70748916G>A ENST00000361983.4 + 1 430 c.328G>A c.(328-330)Gag>Aag p.E110K NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 110 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 CGACACGGAGGAGCTGTCGGC 0.682000 31 35 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392001 117392001 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:117392001C>T ENST00000321322.6 - 6 1238 c.1237G>A c.(1237-1239)Gag>Aag p.E413K DSCAML1_ENST00000527706.1_Missense_Mutation_p.E143K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 353 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCACCAGCTCCGTGTTGCGA 0.627000 100 81 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120947870 120947870 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:120947870C>G ENST00000288532.6 - 4 671 c.631G>C c.(631-633)Gat>Cat p.D211H COQ5_ENST00000445328.2_Missense_Mutation_p.D137H NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 211 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGTAAATATCAAACTTGTCA 0.448000 38 59 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451298 155451298 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:155451298C>T ENST00000461783.3 + 6 2214 c.941C>T c.(940-942)tCa>tTa p.S314L TIAM2_ENST00000529824.2_Missense_Mutation_p.S314L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.S314L|TIAM2_ENST00000456144.1_Missense_Mutation_p.S314L|TIAM2_ENST00000318981.5_Missense_Mutation_p.S314L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 314 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTCTCCCCCTCAGGTATCCGC 0.557000 21 30 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47933517 47933517 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:47933517G>A ENST00000236877.6 - 10 2990 c.2595C>T c.(2593-2595)ttC>ttT p.F865F SLC8A2_ENST00000542837.1_Silent_p.F621F|SLC8A2_ENST00000539381.1_Silent_p.F328F NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 865 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCACGAAGGCGAAGACGGTGA 0.726000 7 23 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50733855 50733855 + Missense_Mutation SNP C C T rs144368009 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:50733855C>T ENST00000300589.2 + 2 635 c.530C>T c.(529-531)cCg>cTg p.P177L NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 177 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) ATCTTCACACCGTCCCAGAGG 0.542000 4 71 0 0 1 0 0 MANSC1 54682 broad.mit.edu 37 12 12483694 12483694 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:12483694A>G ENST00000535902.1 - 4 1126 c.563T>C c.(562-564)aTg>aCg p.M188T MANSC1_ENST00000545735.1_Missense_Mutation_p.M107T|MANSC1_ENST00000396349.3_Missense_Mutation_p.M154T Q9H8J5 MANS1_HUMAN MANSC domain containing 1 188 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TGCTTCATCCATCTTAAATAG 0.418000 21 38 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91347544 91347544 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:91347544C>T ENST00000358859.2 - 1 1409 c.976G>A c.(976-978)Gaa>Aaa p.E326K CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 tccacatattcagcctcttcg 0.547000 10 23 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56749506 56749506 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:56749506G>A ENST00000314128.4 - 4 390 c.367C>T c.(367-369)Cag>Tag p.Q123* STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q119*|STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q119* P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 123 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGGGCCCTCTGAGCCTGGATC 0.453000 44 74 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72300935 72300935 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:72300935C>A ENST00000263563.6 + 16 2254 c.1986C>A c.(1984-1986)ctC>ctA p.L662L NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TCAGCTGCCTCAGCGGCCAGG 0.607000 62 67 1.80625e-27 1.95249e-27 1 1 0 A2M 2 broad.mit.edu 37 12 9242527 9242527 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:9242527C>G ENST00000318602.7 - 21 2996 c.2689G>C c.(2689-2691)Gac>Cac p.D897H NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 897 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) ATGACTGTGTCTTTCCTTCCG 0.378000 16 42 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8585829 8585829 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:8585829G>A ENST00000377464.1 - 1 169 c.15C>T c.(13-15)ttC>ttT p.F5F RERE_ENST00000337907.3_Intron|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Intron Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 0 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TGCAGGGGCTGAATGGATCAT 0.463000 8 20 0 0 1 0 0 MRPS24 64951 broad.mit.edu 37 7 43908565 43908565 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:43908565T>C ENST00000317534.5 - 3 278 c.217A>G c.(217-219)Aca>Gca p.T73A MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_3'UTR NM_032014.2 NP_114403.1 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 73 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 CGCTCACCTGTGTGCAGCGAC 0.557000 52 71 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134026095 134026095 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:134026095G>A ENST00000359428.5 + 16 2364 c.2220G>A c.(2218-2220)ctG>ctA p.L740L NUP214_ENST00000411637.2_Silent_p.L730L|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Silent_p.L741L|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 740 11 X 5 AA approximate repeats.|Leucine-zipper 1. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGAAGATGCTGCGAACAGAAT 0.408000 T """DEK, SET, ABL1""" """AML, T-ALL""" 28 100 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61754499 61754499 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:61754499G>A ENST00000423902.2 + 21 5217 c.4738G>A c.(4738-4740)Gaa>Aaa p.E1580K CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1580 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTCAGACTTGGAAAGTGATTC 0.468000 5 17 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20023021 20023021 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:20023021C>T ENST00000377340.2 - 9 1626 c.1595G>A c.(1594-1596)cGc>cAc p.R532H CRNKL1_ENST00000377327.4_Missense_Mutation_p.R520H|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R371H NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 532 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 ATAAATGTAGCGCTTCCAGTG 0.448000 48 75 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133174626 133174626 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:133174626C>T ENST00000329321.3 + 1 480 c.11C>T c.(10-12)cCc>cTc p.P4L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 4 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGGCTTCACCCAGCCTCCCG 0.517000 28 51 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9288501 9288501 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:9288501C>T ENST00000378501.2 + 1 55 c.40C>T c.(40-42)Ccc>Tcc p.P14S PLCB4_ENST00000334005.3_Missense_Mutation_p.P14S|PLCB4_ENST00000414679.2_Missense_Mutation_p.P14S|PLCB4_ENST00000378493.1_Missense_Mutation_p.P14S|PLCB4_ENST00000378473.3_Missense_Mutation_p.P14S|PLCB4_ENST00000278655.4_Missense_Mutation_p.P14S|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 14 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GAAGGAAGTTCCCTCCTTTTT 0.299000 12 28 0 0 1 0 0 PNMA1 9240 broad.mit.edu 37 14 74179620 74179620 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:74179620C>T ENST00000316836.3 - 1 1508 c.723G>A c.(721-723)gaG>gaA p.E241E NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 241 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) ccctagagctctcaacgctcc 0.517000 33 99 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218758162 218758162 + Splice_Site SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:218758162C>A ENST00000171887.4 - 8 794 c.342G>T c.(340-342)aaG>aaT p.K114N TNS1_ENST00000419504.1_Splice_Site_p.K114N|TNS1_ENST00000430930.1_Splice_Site_p.K114N|TNS1_ENST00000310858.6_Splice_Site_p.K145N NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 114 Phosphatase tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) caGCTCTGACCTTGTTGTGTA 0.537000 3 59 1 1 1 1 0 PFKFB2 5208 broad.mit.edu 37 1 207241622 207241622 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:207241622G>A ENST00000367080.3 + 10 1079 c.955G>A c.(955-957)Gag>Aag p.E319K PFKFB2_ENST00000411990.2_Missense_Mutation_p.E221K|PFKFB2_ENST00000545806.1_Missense_Mutation_p.E286K|PFKFB2_ENST00000541914.1_Missense_Mutation_p.E133K|PFKFB2_ENST00000367079.2_Missense_Mutation_p.E319K NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 319 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) GGTGCCCTATGAGCAGTGGAA 0.473000 17 12 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114226131 114226131 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:114226131G>A ENST00000307546.9 + 21 4016 c.3941G>A c.(3940-3942)cGa>cAa p.R1314Q MAGI3_ENST00000369615.1_3'UTR NM_001142782.1 NP_001136254.1 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1339 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) GGTAAGAGTCGAAGAATAGCA 0.453000 31 69 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46607930 46607930 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:46607930G>C ENST00000239174.6 - 1 429 c.337C>G c.(337-339)Ccc>Gcc p.P113A HOXB1_ENST00000577092.1_Missense_Mutation_p.P113A NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 113 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TAGCTCGAGGGATGAAAATAG 0.642000 25 146 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108608587 108608587 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:108608587C>T ENST00000264047.2 + 3 480 c.204C>T c.(202-204)atC>atT p.I68I SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Silent_p.I68I NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 68 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.I68I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GAGGGTATATCAATGGCACAG 0.458000 34 75 0 0 1 0 0 CBR3-AS1 100506428 broad.mit.edu 37 21 37504755 37504755 + RNA SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:37504755C>T ENST00000413862.1 - 0 871 CBR3-AS1_ENST00000453159.1_RNA NR_038892.1 AACATGCCAGCGGCCCAGAGC 0.478000 4 10 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7887376 7887376 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:7887376C>T ENST00000377532.3 + 17 2611 c.2387C>T c.(2386-2388)gCc>gTc p.A796V RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Missense_Mutation_p.A788V P56645 PER3_HUMAN period circadian clock 3 788 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCCCACCTGCCGCCATGGTG 0.701000 46 85 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40705282 40705282 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:40705282C>G ENST00000372771.4 + 8 4935 c.4908C>G c.(4906-4908)atC>atG p.I1636M NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1636 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GTGCACCCATCCAGAACACTG 0.468000 37 57 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17809073 17809073 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:17809073C>T ENST00000378814.5 - 18 2088 c.2089G>A c.(2089-2091)Gag>Aag p.E697K KIF13A_ENST00000378816.5_Missense_Mutation_p.E697K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E697K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E697K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E697K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 697 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTCATTTCCTCAGCCAGGAAG 0.488000 23 35 0 0 1 0 0 MRPS17 51373 broad.mit.edu 37 7 56022758 56022758 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:56022758C>T ENST00000285298.4 + 3 409 c.280C>T c.(280-282)Cca>Tca p.P94S MRPS17_ENST00000426595.1_Missense_Mutation_p.P189S NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 94 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGTCATAGATCCAGTGACAGG 0.458000 29 90 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119583320 119583320 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:119583320C>T ENST00000267260.4 + 9 1294 c.906C>T c.(904-906)gcC>gcT p.A302A NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 302 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCAGCTCAGCCAGGTCTCGGG 0.622000 3 17 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62554200 62554200 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:62554200C>T ENST00000294168.3 + 11 1502 c.1301C>T c.(1300-1302)tCg>tTg p.S434L TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 434 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 CCTTCTCTTTCGGTGACCCTG 0.692000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 45 0 0 1 0 0 PRRG1 5638 broad.mit.edu 37 X 37312442 37312442 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:37312442A>T ENST00000542554.1 + 5 497 c.225A>T c.(223-225)ggA>ggT p.G75G PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Silent_p.G75G|PRRG1_ENST00000449135.2_Silent_p.G75G|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Silent_p.G75G NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 75 extracellular region|integral to plasma membrane calcium ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 GTAACCGAGGAAGTGACTGGT 0.373000 27 9 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1377693 1377693 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:1377693C>T ENST00000389851.4 + 13 2448 c.2001C>T c.(1999-2001)acC>acT p.T667T UVSSA_ENST00000511563.1_Silent_p.T218T|UVSSA_ENST00000507531.1_Silent_p.T667T|UVSSA_ENST00000512728.1_Silent_p.T218T|UVSSA_ENST00000511216.1_Silent_p.T667T NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 667 AGGCTGATACCGCCCGCGCTC 0.642000 14 67 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69202805 69202805 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:69202805C>T ENST00000314423.7 + 17 2203 c.2026C>T c.(2026-2028)Cca>Tca p.P676S CIRH1A_ENST00000352319.4_Missense_Mutation_p.P561S Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 676 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) TGCTCAGCTCCCACCACCCAT 0.443000 4 141 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76903243 76903243 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:76903243T>A ENST00000409709.3 + 31 4344 c.4072T>A c.(4072-4074)Tcc>Acc p.S1358T MYO7A_ENST00000409619.2_Missense_Mutation_p.S1347T|MYO7A_ENST00000458637.2_Missense_Mutation_p.S1358T NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1358 FERM 1. 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 NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCACAGCCCCTCCGAGGACAA 0.622000 OREG0021258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 107 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609239 84609239 + Missense_Mutation SNP C C T rs115598379 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:84609239C>T ENST00000344803.2 + 4 3901 c.3854C>T c.(3853-3855)aCg>aTg p.T1285M NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TGTCAAGTTACGAATTTCCCA 0.562000 13 22 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112087755 112087755 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:112087755G>A ENST00000419234.4 - 11 1596 c.1403C>T c.(1402-1404)tCt>tTt p.S468F BRAP_ENST00000327551.6_Missense_Mutation_p.S438F|BRAP_ENST00000539060.1_Missense_Mutation_p.S289F NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 468 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 TCTTTCCACAGACTGCTTTTC 0.338000 3 38 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28326981 28326981 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:28326981C>T ENST00000354638.3 - 2 195 c.40G>A c.(40-42)Gcg>Acg p.A14T OCA2_ENST00000353809.5_Missense_Mutation_p.A14T|OCA2_ENST00000382996.2_Missense_Mutation_p.A14T NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 14 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ACCGCCGGCGCGCCGGGGTAC 0.657000 Oculocutaneous Albinism 12 30 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62499341 62499341 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:62499341C>T ENST00000225792.5 - 7 1176 c.775G>A c.(775-777)Gaa>Aaa p.E259K DDX5_ENST00000450599.2_Missense_Mutation_p.E180K|DDX5_ENST00000578804.1_Missense_Mutation_p.E259K NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 259 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) ATTTGGGGTTCAAAGCCCATA 0.363000 T ETV4 prostate 20 92 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430773 37430773 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:37430773G>A ENST00000374660.1 + 7 879 c.780G>A c.(778-780)acG>acA p.T260T ANKRD30A_ENST00000602533.1_Silent_p.T260T|ANKRD30A_ENST00000361713.1_Silent_p.T260T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 316 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CACCTGACACGGCTGAAAGCT 0.493000 3 71 0 0 1 0 0 FADS1 3992 broad.mit.edu 37 11 61570834 61570834 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:61570834C>T ENST00000350997.7 - 9 1481 c.e9+1 FADS1_ENST00000536991.1_Splice_Site|FADS1_ENST00000542506.1_Splice_Site|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000460649.1_Splice_Site|FADS1_ENST00000433932.1_Splice_Site NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTGTCCCTTACCTGGGTGGAA 0.458000 78 196 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17440802 17440802 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:17440802G>C ENST00000159087.4 - 11 1453 c.1295C>G c.(1294-1296)gCc>gGc p.A432G NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 432 Leu-rich. chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CTTCTCATAGGCGCTCTCCAG 0.627000 30 122 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70531255 70531255 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:70531255C>T ENST00000323786.5 - 11 1371 c.1350G>A c.(1348-1350)ctG>ctA p.L450L NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 446 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TGCTGGATGTCAGCTGGCCCT 0.512000 91 114 0 0 1 0 0 TRMT6 51605 broad.mit.edu 37 20 5924896 5924896 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:5924896T>A ENST00000203001.2 - 4 500 c.370A>T c.(370-372)Ata>Tta p.I124L TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 124 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 TGCTGAACTATTTCCTATAAG 0.308000 12 17 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125280125 125280125 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:125280125G>C ENST00000298282.9 + 8 893 c.622G>C c.(622-624)Gga>Cga p.G208R PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 208 nucleus sequence-specific DNA binding transcription factor activity p.G208R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) TTCCATGTCCGGAGTCTCCAA 0.572000 108 217 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51499316 51499316 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:51499316C>T ENST00000600767.1 - 7 1271 c.782G>A c.(781-783)tGa>tAa p.*261* KLK8_ENST00000291726.7_Silent_p.*261*|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000347619.4_Silent_p.*120*|KLK8_ENST00000391806.2_Silent_p.*306*|KLK8_ENST00000320838.5_3'UTR O60259 KLK8_HUMAN kallikrein-related peptidase 8 0 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) ATCCTAGAATCAGCCCTTGCT 0.537000 100 245 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114158209 114158209 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:114158209G>C ENST00000357077.4 + 6 603 c.550G>C c.(550-552)Gag>Cag p.E184Q ANK2_ENST00000394537.3_Missense_Mutation_p.E184Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E163Q|ANK2_ENST00000264366.6_Missense_Mutation_p.E184Q NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 184 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CATCCTCTTGGAGAATGACAC 0.498000 44 176 0 0 1 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98660185 98660185 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:98660185G>C ENST00000288985.7 + 3 864 c.559G>C c.(559-561)Gaa>Caa p.E187Q ERCC6L2_ENST00000466840.1_3'UTR NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 187 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding TGAGGATATTGAAAATAACAT 0.333000 20 65 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180397147 180397147 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:180397147C>T ENST00000273654.4 - 7 893 c.274G>A c.(274-276)Gag>Aag p.E92K CCDC39_ENST00000442201.2_Missense_Mutation_p.E8K Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 8 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CAGTGCAGCTCAGCCAGGAAT 0.557000 140 194 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 4 68 0 0 1 0 0 MTX3 345778 broad.mit.edu 37 5 79279583 79279583 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:79279583G>A ENST00000512560.1 - 8 799 c.680C>T c.(679-681)cCt>cTt p.P227L MTX3_ENST00000512528.1_Missense_Mutation_p.P288L|MTX3_ENST00000509852.1_3'UTR NM_001167741.1 NP_001161213.1 Q5HYI7 MTX3_HUMAN metaxin 3 288 protein targeting to mitochondrion mitochondrial outer membrane endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1) 7 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) TTTCCGAGGAGGAAGCTGAGG 0.468000 32 51 0 0 1 0 0 TEDDM1 127670 broad.mit.edu 37 1 182368982 182368982 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:182368982C>T ENST00000367565.1 - 1 769 c.639G>A c.(637-639)ctG>ctA p.L213L NM_172000.3 NP_741997.3 Q5T9Z0 TEDM1_HUMAN transmembrane epididymal protein 1 213 integral to membrane haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2) 7 AGATTCCCAACAGGAATGAGG 0.488000 18 25 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124438234 124438234 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:124438234G>A ENST00000291478.5 + 27 3950 c.3787G>A c.(3787-3789)Gaa>Aaa p.E1263K KALRN_ENST00000360013.3_Missense_Mutation_p.E2960K|KALRN_ENST00000428018.2_Missense_Mutation_p.E1231K NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATGCTTCATAGAACGTCGCAA 0.562000 25 105 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47577018 47577018 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:47577018G>C ENST00000359314.5 + 16 2248 c.1792G>C c.(1792-1794)Gaa>Caa p.E598Q CD2AP_ENST00000486693.1_3'UTR NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 598 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) GTGCATTGTAGAAGCACTGAA 0.353000 3 150 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189089 50189089 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:50189089C>T ENST00000335999.6 - 8 2755 c.2554G>A c.(2554-2556)Gac>Aac p.D852N NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 848 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CTACCACAGTCTGCCCAGGGA 0.647000 32 146 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64067652 64067652 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:64067652G>C ENST00000443617.2 - 2 258 c.171C>G c.(169-171)ctC>ctG p.L57L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 57 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GTGGTCCTTTGAGGCATAAAA 0.443000 17 41 0 0 1 0 0 AP4S1 11154 broad.mit.edu 37 14 31535513 31535513 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:31535513G>A ENST00000216366.4 + 2 319 c.111G>A c.(109-111)aaG>aaA p.K37K AP4S1_ENST00000542754.2_Silent_p.K37K|AP4S1_ENST00000313566.6_Silent_p.K37K|AP4S1_ENST00000334725.4_Silent_p.K37K|AP4S1_ENST00000554345.1_Silent_p.K37K|AP4S1_ENST00000554609.1_Silent_p.K37K NM_007077.4 NP_009008.2 Q9Y587 AP4S1_HUMAN adaptor-related protein complex 4, sigma 1 subunit 37 coated pit|Golgi apparatus protein transporter activity lung(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221) GBM - Glioblastoma multiforme(265;0.00553) AAGTCATAAAGAGCTGTCTCT 0.393000 20 72 0 0 1 0 0 SNX8 29886 broad.mit.edu 37 7 2311494 2311494 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:2311494G>A ENST00000222990.3 - 4 573 c.531C>T c.(529-531)ttC>ttT p.F177F NM_013321.2 NP_037453.1 Q9Y5X2 SNX8_HUMAN sorting nexin 8 177 PX. cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CCGAGCCGCTGAAGGACAGGA 0.637000 5 10 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21479343 21479343 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:21479343G>A ENST00000313654.9 + 47 6169 c.5928G>A c.(5926-5928)atG>atA p.M1976I LAMA3_ENST00000587184.1_Intron|LAMA3_ENST00000269217.6_Missense_Mutation_p.M367I|LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1976 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCAGCGCATGATGAGGGAAC 0.493000 16 59 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412206 126412206 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:126412206C>A ENST00000394329.3 + 17 14242 c.14229C>A c.(14227-14229)ttC>ttA p.F4743L FAT4_ENST00000335110.5_Missense_Mutation_p.F2984L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4743 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGGCATTTTCAACTATGCCA 0.498000 13 69 3.27435e-08 3.3871e-08 1 1 0 RBM15B 29890 broad.mit.edu 37 3 51429743 51429743 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:51429743G>A ENST00000323686.4 + 1 1013 c.913G>A c.(913-915)Gac>Aac p.D305N NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 305 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCGGGCCCTGGACTACTACGG 0.731000 18 30 0 0 1 0 0 LINC00933 100506874 broad.mit.edu 37 15 85121450 85121450 + RNA SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:85121450T>C ENST00000557887.1 + 0 650 NR_038273.1|NR_038274.1 TTTGACCCCGTGATTCTACTC 0.403000 4 14 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924151 188924151 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:188924151G>C ENST00000326866.4 + 4 598 c.190G>C c.(190-192)Gga>Cga p.G64R ZFP42_ENST00000509524.1_Missense_Mutation_p.G64R NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 64 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TCAGGCTCTCGGAGGGGATGA 0.507000 6 47 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90647877 90647877 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:90647877C>T ENST00000257749.4 - 8 2736 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K BACH2_ENST00000343122.3_Missense_Mutation_p.E677K|BACH2_ENST00000537989.1_Missense_Mutation_p.E677K NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 677 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TTGCGGATTTCACATTCTAAA 0.458000 24 116 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19256466 19256466 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:19256466C>T ENST00000527884.1 - 5 823 c.591G>A c.(589-591)ggG>ggA p.G197G RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.G197G NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 197 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TATTCTCCTCCCCGATGCTCT 0.428000 15 86 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183432930 183432930 + Splice_Site SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:183432930A>T ENST00000305135.5 + 2 176 c.e2-1 NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATTGCTTCACAGTGAAGAACT 0.358000 40 39 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152640037 152640037 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:152640037C>T ENST00000367255.5 - 85 16951 c.16350G>A c.(16348-16350)gcG>gcA p.A5450A SYNE1_ENST00000423061.1_Silent_p.A5379A|SYNE1_ENST00000265368.4_Silent_p.A5450A|SYNE1_ENST00000448038.1_Silent_p.A5379A|SYNE1_ENST00000341594.5_Silent_p.A5123A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5450 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATCTGTCTTCGCTTTCAGCT 0.378000 HNSCC(10;0.0054) 7 38 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27010765 27010765 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:27010765C>T ENST00000314616.6 + 17 2443 c.2160C>T c.(2158-2160)ttC>ttT p.F720F SUPT6H_ENST00000347486.4_Silent_p.F720F NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 720 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TACAGCAGTTCCTCTATGTGC 0.473000 19 38 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713796 138713796 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:138713796G>A ENST00000389532.4 - 11 2775 c.2711C>T c.(2710-2712)gCa>gTa p.A904V CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A626V|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A915V NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 904 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GCGCTGCCTTGCCGACAGCGC 0.632000 41 76 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154962840 154962840 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:154962840G>C ENST00000292180.3 + 5 1712 c.1390G>C c.(1390-1392)Gag>Cag p.E464Q FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000368428.1_Missense_Mutation_p.E5Q|FLAD1_ENST00000315144.10_Missense_Mutation_p.E367Q|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.E367Q NM_025207.4 NP_079483.3 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 464 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTTGGAAGCTGAGGGCAGCAT 0.602000 28 108 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94772582 94772582 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:94772582C>T ENST00000283357.5 + 7 911 c.865C>T c.(865-867)Cgc>Tgc p.R289C NM_152548.2 NP_689761 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 289 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) GGGGGATTATCGCCACGAAAT 0.398000 13 39 0 0 1 0 0 C11orf16 56673 broad.mit.edu 37 11 8947368 8947368 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:8947368G>C ENST00000326053.5 - 5 952 c.846C>G c.(844-846)ctC>ctG p.L282L C11orf16_ENST00000525780.1_Silent_p.L282L NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 282 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GGCAGCCACAGAGGCAGCCCT 0.592000 88 78 0 0 1 0 0 TIFA 92610 broad.mit.edu 37 4 113199085 113199085 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:113199085T>C ENST00000361717.3 - 2 769 c.488A>G c.(487-489)tAt>tGt p.Y163C TIFA_ENST00000500655.2_Missense_Mutation_p.Y163C NM_052864.2 NP_443096.1 Q96CG3 TIFA_HUMAN TRAF-interacting protein with forkhead-associated domain protein binding breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1) 6 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00172) ATAAGTGCCATACTCCGGTAT 0.428000 9 28 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48422313 48422313 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:48422313C>T ENST00000264313.6 + 7 1950 c.1532C>T c.(1531-1533)tCa>tTa p.S511L SLAIN2_ENST00000512093.1_Missense_Mutation_p.S344L NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 511 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 AGCACAGTCTCAGCAAATCCT 0.522000 57 103 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137018501 137018501 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:137018501G>C ENST00000359015.4 - 5 1191 c.831C>G c.(829-831)ctC>ctG p.L277L NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 277 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TGATGTCATTGAGTATAGATT 0.358000 15 100 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 6 162 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169374324 169374324 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:169374324C>G ENST00000511577.1 - 8 1194 c.947G>C c.(946-948)cGa>cCa p.R316P DDX60L_ENST00000505890.1_Missense_Mutation_p.R316P|DDX60L_ENST00000260184.7_Missense_Mutation_p.R316P Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 316 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TGTGATGACTCGAGAACAAGC 0.408000 35 39 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364665 10364665 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:10364665C>T ENST00000377093.4 + 21 3575 c.3422C>T c.(3421-3423)tCa>tTa p.S1141L KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S1141L|KIF1B_ENST00000263934.6_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGACAGTTCTCAGCACCCAAT 0.473000 21 36 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 99998633 99998633 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:99998633G>C ENST00000289371.6 + 13 2275 c.2073G>C c.(2071-2073)gaG>gaC p.E691D NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTGATAGAGAGAATGTACGGA 0.353000 8 53 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55826641 55826641 + Nonsense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:55826641G>C ENST00000373965.2 - 19 2511 c.2117C>G c.(2116-2118)tCa>tGa p.S706* PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S662*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.S699*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S699*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.S310*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S677*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.S699*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.S704*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.S706*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.S699*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.S677*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S628*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.S699* NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 699 Cadherin 6. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGTGGCAGTTGAGGTCTTAAA 0.368000 HNSCC(58;0.16) 6 89 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206869295 206869295 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:206869295C>T ENST00000403263.1 - 11 3285 c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 0 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 GCCATTAGTTCAGCAGAAGGC 0.597000 9 11 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057835 27057835 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:27057835C>T ENST00000324856.7 + 3 1914 c.1543C>T c.(1543-1545)Cag>Tag p.Q515* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q515*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q132* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 515 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCAGTCCTCTCAGCCTCCATA 0.632000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 240 408 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33459811 33459811 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:33459811G>A ENST00000265112.3 + 11 1406 c.1095G>A c.(1093-1095)agG>agA p.R365R TARS_ENST00000414361.2_Silent_p.R244R|TARS_ENST00000455217.2_Silent_p.R398R|TARS_ENST00000502553.1_Silent_p.R365R|TARS_ENST00000541634.1_Silent_p.R261R NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 365 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) GCGAATATAGGAAAAGAGGAT 0.423000 69 57 0 0 1 0 0 POLR1D 51082 broad.mit.edu 37 13 28197305 28197305 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:28197305G>A ENST00000302979.3 + 3 1342 c.320G>A c.(319-321)tGc>tAc p.C107Y POLR1D_ENST00000399697.3_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.C107Y|POLR1D_ENST00000465887.1_Intron NM_015972.3 NP_057056.1 Q9Y2S0 RPAC2_HUMAN polymerase (RNA) I polypeptide D, 16kDa 107 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity endometrium(1)|large_intestine(1)|lung(4)|stomach(2) 8 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213) ATGAATGTCTGCCAACATGTG 0.423000 37 95 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32832645 32832645 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:32832645C>T ENST00000421745.2 + 72 14328 c.14194C>T c.(14194-14196)Cga>Tga p.R4732* NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4732 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGGAAACATTCGACAAGCAAC 0.378000 31 52 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38445697 38445697 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:38445697C>T ENST00000209728.4 + 2 496 c.25C>T c.(25-27)Cag>Tag p.Q9* NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 9 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 ATCCCAGGCACAGGCTACAAT 0.408000 29 46 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113928680 113928680 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:113928680G>A ENST00000348367.4 - 10 1022 c.825C>T c.(823-825)ttC>ttT p.F275F GPAM_ENST00000369425.1_Silent_p.F275F|GPAM_ENST00000423155.1_Silent_p.F275F Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 275 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity p.F275F(1) breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TTCGTCGTATGAAGAAGCCCC 0.373000 27 34 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79813139 79813139 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:79813139G>A ENST00000331483.4 - 4 725 c.503C>T c.(502-504)tCt>tTt p.S168F P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.S124F NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 168 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CTGCTTGGCAGAGTCCGACTC 0.552000 35 117 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15995169 15995169 + Nonstop_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:15995169C>G ENST00000395848.1 - 19 2814 c.2745G>C c.(2743-2745)taG>taC p.*915Y NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000268712.3_Intron NM_001190438.1 NP_001177367.1 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 0 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ATAGCTCTATCTACCTACCTT 0.428000 22 58 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160474178 160474178 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:160474178C>T ENST00000498165.1 + 1 183 c.82C>T c.(82-84)Ctg>Ttg p.L28L PPM1L_ENST00000497343.1_Silent_p.L28L NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 28 protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GACGCTTTTCCTGCTGTGCAT 0.522000 15 89 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19861683 19861683 + Missense_Mutation SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:19861683A>T ENST00000225737.6 - 4 678 c.521T>A c.(520-522)cTa>cAa p.L174Q AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Missense_Mutation_p.L174Q NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 174 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CACTGTGTTTAGACTGTGTGC 0.413000 26 57 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75799843 75799843 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:75799843C>T ENST00000322507.8 - 63 9233 c.8924G>A c.(8923-8925)gGa>gAa p.G2975E COL12A1_ENST00000416123.2_Missense_Mutation_p.G2899E|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1811E|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2971E NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2975 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCCAGGGGGTCCCTGCATCCC 0.617000 65 115 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62376050 62376050 + Silent SNP G G A rs138198368 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:62376050G>A ENST00000394773.2 - 9 1381 c.1074C>T c.(1072-1074)ttC>ttT p.F358F EML3_ENST00000494176.2_Silent_p.F330F|EML3_ENST00000278845.4_Silent_p.F359F|EML3_ENST00000531557.1_Silent_p.F141F|EML3_ENST00000529309.1_Silent_p.F358F NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 358 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CACCCCGCTCGAAGGCCCCCA 0.597000 51 348 0 0 1 0 0 ATP6V1E2 90423 broad.mit.edu 37 2 46739578 46739578 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:46739578G>C ENST00000306448.4 - 2 1386 c.273C>G c.(271-273)atC>atG p.I91M ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.I91M NM_080653.3 NP_542384.1 Q96A05 VATE2_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 91 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) GCAAATCTGAGATGAGGTCAT 0.527000 29 70 0 0 1 0 0 RABEPK 10244 broad.mit.edu 37 9 127990287 127990287 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:127990287G>A ENST00000373538.3 + 6 935 c.625G>A c.(625-627)Gga>Aga p.G209R RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.G209R|RABEPK_ENST00000259460.8_Missense_Mutation_p.G158R NM_005833.3 NP_005824.2 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 209 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 CTTCATCCACGGAGGCTTGGC 0.488000 7 50 0 0 1 0 0 GGA1 26088 broad.mit.edu 37 22 38014472 38014472 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:38014472G>C ENST00000343632.4 + 4 608 c.222G>C c.(220-222)atG>atC p.M74I GGA1_ENST00000406772.1_Start_Codon_SNP_p.M1I|GGA1_ENST00000405147.3_Missense_Mutation_p.M74I|GGA1_ENST00000381756.5_Missense_Mutation_p.M91I|GGA1_ENST00000325180.8_Missense_Mutation_p.M74I|GGA1_ENST00000337437.4_Intron NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 74 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) AAACATGCATGAAGAGCTGCG 0.637000 18 70 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135439041 135439041 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:135439041G>T ENST00000443774.1 - 4 451 c.402C>A c.(400-402)caC>caA p.H134Q FRG2B_ENST00000425520.1_Missense_Mutation_p.H133Q Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 133 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTTCACTGTTGTGCACAGGAG 0.532000 38 59 1.90571e-15 2.01764e-15 1 1 0 SLC45A1 50651 broad.mit.edu 37 1 8390858 8390858 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:8390858G>A ENST00000471889.1 + 5 1690 c.1305G>A c.(1303-1305)ctG>ctA p.L435L SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.L469L|SLC45A1_ENST00000289877.8_Silent_p.L435L Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 435 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGGACATTCTGAGGGTGGGCT 0.662000 28 83 0 0 1 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156723650 156723650 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:156723650G>A ENST00000264424.8 + 10 1414 c.1332G>A c.(1330-1332)atG>atA p.M444I GUCY1B3_ENST00000503520.1_Missense_Mutation_p.M411I|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.M419I|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.M466I|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.M376I|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.M424I|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.M376I NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 444 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AAGGAGCCATGAAGATCGTCA 0.453000 3 25 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968139 69968139 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:69968139G>A ENST00000299293.2 + 10 1441 c.931G>A c.(931-933)Ggg>Agg p.G311R FRS2_ENST00000550389.1_Missense_Mutation_p.G311R|FRS2_ENST00000549921.1_Missense_Mutation_p.G311R|FRS2_ENST00000397997.2_Missense_Mutation_p.G311R NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 311 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAATATAAATGGGCTATCTAT 0.458000 28 48 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8018935 8018935 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:8018935C>G ENST00000380149.1 - 3 922 c.892G>C c.(892-894)Gaa>Caa p.E298Q ALOXE3_ENST00000318227.3_Missense_Mutation_p.E274Q|ALOXE3_ENST00000448843.2_Missense_Mutation_p.E142Q Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 142 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CGGTAGCATTCTTGTCGGGCC 0.478000 31 58 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38869153 38869153 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:38869153C>G ENST00000274276.3 + 2 409 c.7C>G c.(7-9)Cta>Gta p.L3V OSMR_ENST00000502536.1_Missense_Mutation_p.L3V NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 3 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) ACTGATGGCTCTATTTGCAGT 0.338000 67 57 0 0 1 0 0 CSNK1A1P1 161635 broad.mit.edu 37 15 37109476 37109476 + RNA SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:37109476G>C ENST00000430593.3 - 0 746 NR_027320.1 TAGTCATATTGATGGATCAGG 0.473000 26 47 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155099224 155099224 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:155099224G>C ENST00000392825.3 + 6 1059 c.492G>C c.(490-492)ttG>ttC p.L164F GALNT13_ENST00000409237.1_Missense_Mutation_p.L164F NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 164 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TTCTCAAGTTGACATTAGAGA 0.338000 11 25 0 0 1 0 0 HOXB9 3219 broad.mit.edu 37 17 46703547 46703547 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:46703547G>A ENST00000311177.5 - 1 292 c.85C>T c.(85-87)Cct>Tct p.P29S HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.P29S NM_024017.4 NP_076922.1 P17482 HXB9_HUMAN homeobox B9 29 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1) 12 TGGCCAGAAGGAAACTTGGCT 0.602000 6 25 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192256914 192256914 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:192256914G>C ENST00000392318.3 + 19 2310 c.2063G>C c.(2062-2064)cGa>cCa p.R688P MYO1B_ENST00000339514.4_Missense_Mutation_p.R688P|MYO1B_ENST00000304164.4_Missense_Mutation_p.R688P|MYO1B_ENST00000392316.1_Missense_Mutation_p.R688P|MYO1B_ENST00000439065.2_5'UTR NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 688 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) ATATTCATCCGAAACCCAAGA 0.303000 12 49 0 0 1 0 0 HAPLN2 60484 broad.mit.edu 37 1 156594201 156594201 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:156594201G>A ENST00000255039.1 + 5 905 c.498G>A c.(496-498)gcG>gcA p.A166A HAPLN2_ENST00000494218.1_3'UTR NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 166 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACTACGAGGCGAAGCAGGCGT 0.672000 13 27 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102029158 102029158 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:102029158C>T ENST00000251127.6 - 6 618 c.537G>A c.(535-537)tgG>tgA p.W179* NALCN_ENST00000376196.3_Nonsense_Mutation_p.W179*|NALCN_ENST00000376200.5_Nonsense_Mutation_p.W179*|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 179 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGGAAACACTCCATATTTGTT 0.308000 19 105 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76529105 76529105 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:76529105T>C ENST00000429927.2 - 6 1394 c.691A>G c.(691-693)Aaa>Gaa p.K231E CDKL2_ENST00000307465.4_Missense_Mutation_p.K231E NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 231 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ACAGGATTTTTATTAAAAAGC 0.388000 10 49 0 0 1 0 0 STK38L 23012 broad.mit.edu 37 12 27470859 27470859 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:27470859A>G ENST00000389032.3 + 11 1155 c.986A>G c.(985-987)cAa>cGa p.Q329R STK38L_ENST00000539577.1_Missense_Mutation_p.Q236R NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 329 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) GAAACACCTCAAGAAACGTAC 0.383000 11 21 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43195690 43195690 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:43195690G>A ENST00000322765.5 - 6 1196 c.1083C>T c.(1081-1083)atC>atT p.I361I PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 361 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) TGGGCCCCCCGATCTGGGAGT 0.592000 28 85 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26862193 26862193 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:26862193C>T ENST00000226247.2 + 7 1633 c.1604C>T c.(1603-1605)tCa>tTa p.S535L FOXN1_ENST00000579795.1_Missense_Mutation_p.S535L NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 535 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) ATCAATCCCTCACTCACTGAC 0.597000 16 37 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112225592 112225592 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:112225592C>T ENST00000374541.2 - 2 227 c.123G>A c.(121-123)caG>caA p.Q41Q PTPN3_ENST00000262539.3_5'UTR NM_001145368.1|NM_002829.3 NP_001138840.1|NP_002820.3 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 41 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CTTTAAAGGTCTGTACCACGC 0.358000 25 43 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36422160 36422160 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:36422160G>A ENST00000273183.3 + 1 325 c.25G>A c.(25-27)Gag>Aag p.E9K STAC_ENST00000457375.2_Missense_Mutation_p.E9K NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 9 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CAGCCCCCGCGAGGACGGCGT 0.721000 3 22 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226040 158226040 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:158226040T>C ENST00000289429.5 + 3 1105 c.572T>C c.(571-573)cTt>cCt p.L191P NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 191 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TTGGGTCTTCTTGATGCAGGA 0.468000 37 116 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40594208 40594208 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:40594208G>A ENST00000260402.3 - 7 781 c.532C>T c.(532-534)Cgc>Tgc p.R178C PLCB2_ENST00000543785.2_Missense_Mutation_p.R178C|PLCB2_ENST00000456256.2_Missense_Mutation_p.R178C|PLCB2_ENST00000557821.1_Missense_Mutation_p.R178C NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 178 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) ACCCGCTTGCGGTCAGCAGGA 0.582000 3 61 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76503684 76503684 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:76503684G>A ENST00000389840.5 - 28 4552 c.4428C>T c.(4426-4428)tcC>tcT p.S1476S DNAH17_ENST00000585328.1_Silent_p.S1477S dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTCCGCCGTGGACAGCTTCT 0.592000 10 55 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54920519 54920519 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:54920519C>T ENST00000293373.6 + 21 2443 c.2364C>T c.(2362-2364)ctC>ctT p.L788L NCKAP1L_ENST00000545638.2_Silent_p.L738L NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 788 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TCACCACACTCTACACAAACT 0.512000 15 20 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4189070 4189070 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:4189070G>A ENST00000404826.2 + 30 4739 c.4600G>A c.(4600-4602)Gag>Aag p.E1534K SDK1_ENST00000389531.3_Missense_Mutation_p.E1534K NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1534 Fibronectin type-III 9. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CATCAGCCATGAGGCGACAGC 0.667000 8 10 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844550 123844550 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:123844550C>G ENST00000369005.1 + 4 2875 c.2535C>G c.(2533-2535)ctC>ctG p.L845L TACC2_ENST00000515603.1_Silent_p.L845L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L845L|TACC2_ENST00000453444.2_Silent_p.L845L|TACC2_ENST00000334433.3_Silent_p.L845L|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 845 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TTGACGTGCTCAAGGAGCAGG 0.527000 103 66 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25465209 25465209 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:25465209C>A ENST00000376351.3 + 1 1219 c.860C>A c.(859-861)tCt>tAt p.S287Y NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 287 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 ACTCTTTCCTCTGCCATCTAC 0.612000 28 22 1.56738e-10 1.63779e-10 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47886526 47886526 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:47886526C>T ENST00000289672.2 - 32 5154 c.5104G>A c.(5104-5106)Gaa>Aaa p.E1702K NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1702 GPS. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GAGAAACGTTCAGATTTCCAC 0.408000 31 79 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183086502 183086502 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:183086502C>G ENST00000258341.4 + 9 1869 c.1612C>G c.(1612-1614)Ctc>Gtc p.L538V NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 538 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAAGCATCTCTCGAGTGGTC 0.488000 24 15 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 38 0 0 1 0 0 SNTB2 6645 broad.mit.edu 37 16 69279609 69279609 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:69279609G>A ENST00000336278.4 + 2 723 c.685G>A c.(685-687)Gag>Aag p.E229K SNTB2_ENST00000528525.1_3'UTR NM_006750.3 NP_006741.1 Q13425 SNTB2_HUMAN syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 229 PH 1. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) TAGTGGCAGTGAGGACTCTGG 0.493000 189 214 0 0 1 0 0 PRDX1 5052 broad.mit.edu 37 1 45977057 45977057 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:45977057C>T ENST00000262746.1 - 6 883 c.544G>A c.(544-546)Gat>Aat p.D182N PRDX1_ENST00000372079.1_Missense_Mutation_p.D80N|PRDX1_ENST00000319248.8_Missense_Mutation_p.D182N NM_002574.3|NM_181696.2 NP_002565.1|NP_859047.1 Q06830 PRDX1_HUMAN peroxiredoxin 1 182 cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) TTGATGGTATCACTGCCAGGT 0.493000 157 279 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42877371 42877371 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:42877371G>A ENST00000025301.2 + 8 4664 c.4489G>A c.(4489-4491)Gaa>Aaa p.E1497K NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1497 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGGATATGAAGAAGATAATGA 0.398000 42 40 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116066832 116066832 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:116066832C>T ENST00000410059.1 + 2 558 c.78C>T c.(76-78)agC>agT p.S26S DPP10_ENST00000310323.8_Silent_p.S19S|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Silent_p.S30S NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 26 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GAAGTAACAGCCCTCCACAGA 0.403000 19 24 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 6 127 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047045 42047045 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:42047045G>T ENST00000372584.1 - 3 4438 c.3424C>A c.(3424-3426)Cca>Aca p.P1142T HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1142T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1142T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1142T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1142 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGGAGACTGGTGGGGGCAGG 0.602000 59 129 1.05635e-38 1.1505e-38 1 1 0 C6orf89 221477 broad.mit.edu 37 6 36887410 36887410 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:36887410C>T ENST00000480824.2 + 8 1176 c.882C>T c.(880-882)ctC>ctT p.L294L C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000359359.2_Silent_p.L188L|C6orf89_ENST00000355190.3_Silent_p.L301L|C6orf89_ENST00000510325.2_Silent_p.L188L Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 294 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 TGTTGCAGCTCATCCCTCCCT 0.532000 72 79 0 0 1 0 0 TNFSF15 9966 broad.mit.edu 37 9 117568272 117568272 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:117568272C>T ENST00000374045.4 - 1 134 c.21G>A c.(19-21)ctG>ctA p.L7L NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 7 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 CCCCAAAGCTCAGTCCCAGAT 0.622000 43 87 0 0 1 0 0 NUTM2G 441457 broad.mit.edu 37 9 99691320 99691320 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:99691320G>C ENST00000354649.3 + 1 729 c.14G>C c.(13-15)gGa>gCa p.G5A NUTM2G_ENST00000372322.3_Missense_Mutation_p.G5A|HIATL2_ENST00000506067.1_Intron NM_001045477.2 NP_001038942.1 NUT family member 2G GCTTCAAATGGAGGTGAGCCT 0.537000 91 106 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9435902 9435902 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:9435902G>A ENST00000379719.3 + 5 722 c.580G>A c.(580-582)Gat>Aat p.D194N NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 194 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGACCAGTCTGATCAGTCTGT 0.398000 66 68 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65890162 65890162 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:65890162C>G ENST00000321892.4 + 9 2863 c.2802C>G c.(2800-2802)atC>atG p.I934M BPTF_ENST00000306378.6_Missense_Mutation_p.I808M|BPTF_ENST00000335221.5_Missense_Mutation_p.I934M|BPTF_ENST00000424123.3_Missense_Mutation_p.I795M Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 934 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAATTGGATCAAGGCAGTTC 0.393000 48 69 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151674198 151674198 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:151674198G>A ENST00000402676.2 + 4 4912 c.4672G>A c.(4672-4674)Gtt>Att p.V1558I AKAP12_ENST00000253332.1_Missense_Mutation_p.V1558I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V1460I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V1453I NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1558 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CCAGACAGCCGTTGACCAGTT 0.448000 28 91 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92922835 92922835 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:92922835C>A ENST00000532405.1 + 12 1364 c.1138C>A c.(1138-1140)Cct>Act p.P380T SLC24A4_ENST00000531433.1_Missense_Mutation_p.P361T|SLC24A4_ENST00000393265.2_Missense_Mutation_p.P316T|SLC24A4_ENST00000351924.5_Missense_Mutation_p.P344T|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000298877.1_Missense_Mutation_p.P363T Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 380 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CGGGAATGTTCCTGTGGAAAA 0.597000 OREG0022876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 51 6.33695e-27 6.83973e-27 1 1 0 ABHD17C 58489 broad.mit.edu 37 15 80988240 80988240 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:80988240C>T ENST00000258884.4 + 1 597 c.470C>T c.(469-471)tCc>tTc p.S157F ABHD17C_ENST00000560609.1_Intron|ABHD17C_ENST00000558464.1_Missense_Mutation_p.S157F NM_021214.1 NP_067037.1 abhydrolase domain containing 17C GGCCTCGGCTCCCGCATCAAC 0.637000 4 16 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093837 43093837 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:43093837C>T ENST00000244336.5 - 3 576 c.475G>A c.(475-477)Gac>Aac p.D159N LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 159 Ig-like C2-type 1. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GCATCCTTGTCCTCCACGGGG 0.552000 86 214 0 0 1 0 0 TNNC2 7125 broad.mit.edu 37 20 44453014 44453014 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:44453014C>T ENST00000372557.1 - 5 393 c.186G>A c.(184-186)ttG>ttA p.L62L TNNC2_ENST00000372555.3_Silent_p.L77L P02585 TNNC2_HUMAN troponin C type 2 (fast) 77 EF-hand 2. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) CCATCATGACCAAGAACTCCT 0.662000 31 168 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64030227 64030227 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:64030227C>T ENST00000540288.1 + 19 2405 c.2302C>T c.(2302-2304)Cag>Tag p.Q768* PLCB3_ENST00000325234.5_Nonsense_Mutation_p.Q701*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.Q768* NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 768 C2. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CCGGACCTCTCAGGGGAACTC 0.637000 165 227 0 0 1 0 0 PPAT 5471 broad.mit.edu 37 4 57266984 57266984 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:57266984G>C ENST00000264220.2 - 8 1117 c.980C>G c.(979-981)tCt>tGt p.S327C NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 327 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) AGGCGTAGCAGATTCTGGAAC 0.458000 36 121 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130119513 130119513 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:130119513G>T ENST00000373387.4 + 21 2303 c.1951G>T c.(1951-1953)Gac>Tac p.D651Y GARNL3_ENST00000314904.5_Missense_Mutation_p.D651Y|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D629Y NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 651 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CTGTCTGTCTGACTCTCCCAT 0.522000 12 101 3.27435e-08 3.3871e-08 1 1 0 DDX26B 203522 broad.mit.edu 37 X 134709105 134709105 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:134709105C>T ENST00000370752.4 + 13 2061 c.1727C>T c.(1726-1728)cCc>cTc p.P576L DDX26B_ENST00000481908.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 576 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) CCAGACCAACCCAAAAGACTG 0.403000 59 29 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45353208 45353208 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:45353208C>G ENST00000303230.4 - 5 1428 c.1371G>C c.(1369-1371)ctG>ctC p.L457L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 457 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.L457L(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTACCTCTCTCAGAGGATCAT 0.343000 7 71 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32166323 32166323 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:32166323C>T ENST00000375023.3 - 26 4769 c.4631G>A c.(4630-4632)gGc>gAc p.G1544D NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1544 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGAGGGTGGGCCTGTTTCTTC 0.572000 15 43 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572357 53572357 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:53572357C>T ENST00000601421.1 - 3 2198 c.1322G>A c.(1321-1323)gGa>gAa p.G441E ZNF160_ENST00000599056.1_Missense_Mutation_p.G477E|ZNF160_ENST00000429604.1_Missense_Mutation_p.G477E|ZNF160_ENST00000418871.1_Missense_Mutation_p.G477E Q9HCG1 ZN160_HUMAN zinc finger protein 160 477 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AGGTTTTGTTCCAGTATGGAT 0.398000 36 84 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45198028 45198028 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:45198028C>T ENST00000352766.7 + 9 913 c.913C>T c.(913-915)Cac>Tac p.H305Y PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.H182Y|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.H51Y|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.H305Y|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.H51Y|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.H51Y|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.H173Y breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CGAGCTGGACCACCAGCGGCT 0.597000 11 72 0 0 1 0 0 ATF1 466 broad.mit.edu 37 12 51207891 51207891 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:51207891C>T ENST00000262053.3 + 5 449 c.427C>T c.(427-429)Cag>Tag p.Q143* ATF1_ENST00000539132.1_Nonsense_Mutation_p.Q8* NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 143 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 AGGCAGTACTCAGCAAGGTAC 0.468000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 14 63 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74678291 74678291 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:74678291A>C ENST00000361070.4 - 6 1145 c.1048T>G c.(1048-1050)Ttg>Gtg p.L350V RFWD3_ENST00000571750.1_Missense_Mutation_p.L350V NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 350 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTAGTGTCCAAAGCTCTCAGG 0.453000 36 227 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17552410 17552410 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:17552410G>A ENST00000375471.4 + 5 605 c.513G>A c.(511-513)ctG>ctA p.L171L NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 171 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) ACAGCTGGCTGATGTCGCTGG 0.612000 111 223 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133899037 133899037 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:133899037G>C ENST00000220616.4 + 9 1460 c.1420G>C c.(1420-1422)Ggg>Cgg p.G474R TG_ENST00000377869.1_Missense_Mutation_p.G474R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 474 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTTTTTGGAGGGAAATTTTT 0.473000 32 41 0 0 1 0 0 SMAP2 64744 broad.mit.edu 37 1 40875495 40875495 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:40875495C>G ENST00000539317.1 + 4 343 c.150C>G c.(148-150)atC>atG p.I50M NM_001198980.1 NP_001185909.1 Q8WU79 SMAP2_HUMAN small ArfGAP2 130 Arf-GAP. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) GTCTGGACATCAATGCCTTTA 0.373000 16 23 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452478 43452478 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:43452478C>G ENST00000282388.3 - 2 758 c.465G>C c.(463-465)aaG>aaC p.K155N THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 155 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K155N(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) ACAGCTCGGTCTTGTAGCGCG 0.657000 11 47 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83764184 83764184 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:83764184G>A ENST00000265362.4 - 2 510 c.196C>T c.(196-198)Cgg>Tgg p.R66W SEMA3A_ENST00000436949.1_Missense_Mutation_p.R66W NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AGCCTACTCCGTTCCTCATCC 0.388000 3 72 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42876628 42876628 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:42876628C>T ENST00000025301.2 + 8 3921 c.3746C>T c.(3745-3747)tCa>tTa p.S1249L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1249 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TTAAACCCCTCAGACGAAAAT 0.363000 28 32 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73727372 73727372 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:73727372G>A ENST00000200181.3 + 10 1325 c.1138G>A c.(1138-1140)Ggc>Agc p.G380S ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.G380S|ITGB4_ENST00000449880.2_Missense_Mutation_p.G380S|ITGB4_ENST00000579662.1_Missense_Mutation_p.G380S|ITGB4_ENST00000339591.3_Missense_Mutation_p.G380S NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 380 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCCCCCGAGGCCTTCGGAC 0.637000 15 97 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134238561 134238561 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:134238561A>G ENST00000535456.2 + 10 1101 c.913A>G c.(913-915)Att>Gtt p.I305V GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.I305V|GLB1L2_ENST00000389881.3_Missense_Mutation_p.I305V NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 305 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CGTGTCTGCCATTGTGGACGC 0.532000 12 72 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565289 18565289 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:18565289G>A ENST00000545289.1 - 5 1780 c.1530C>T c.(1528-1530)ctC>ctT p.L510L ZNF286B_ENST00000285274.5_3'UTR NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GATGTCTGATGAGAGATGAAC 0.358000 16 46 0 0 1 0 0 TRIM16 10626 broad.mit.edu 37 17 15532492 15532492 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:15532492C>T ENST00000455584.2 - 6 1175 c.1132G>A c.(1132-1134)Gac>Aac p.D378N TRIM16_ENST00000579219.1_Silent_p.L74L|TRIM16_ENST00000578237.1_Missense_Mutation_p.D378N|TRIM16_ENST00000416464.2_Missense_Mutation_p.D248N|TRIM16_ENST00000336708.7_Missense_Mutation_p.D378N|TRIM16_ENST00000577886.1_Missense_Mutation_p.D162N GTGTCCGGGTCAAACGTGATG 0.567000 43 75 0 0 1 0 0 HCST 10870 broad.mit.edu 37 19 36393522 36393522 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:36393522C>T ENST00000246551.4 + 1 141 c.27C>T c.(25-27)ttC>ttT p.F9F HCST_ENST00000437550.2_Silent_p.F9F Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer 9 regulation of immune response integral to membrane|plasma membrane lung(4) 4 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACATCCTCTTCCTGCTTTTGC 0.582000 174 213 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61733234 61733234 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:61733234C>T ENST00000325324.6 + 2 297 c.128C>T c.(127-129)tCa>tTa p.S43L IPO11_ENST00000409296.3_Missense_Mutation_p.S83L|KIF2A_ENST00000509663.2_Intron NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 43 Importin N-terminal. cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) GGTTTCTATTCAGTGTTGCTG 0.378000 19 25 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79385578 79385578 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:79385578C>T ENST00000393878.1 - 3 461 c.207G>A c.(205-207)caG>caA p.Q69Q REG3A_ENST00000305165.2_Silent_p.Q69Q|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.Q69Q NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 69 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 AGGGCCGCTTCTGGCAGGCCA 0.572000 32 76 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 10 120892117 120892117 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:120892117T>C ENST00000361432.2 + 8 919 c.893T>C c.(892-894)aTa>aCa p.I298T FAM45A_ENST00000544016.1_Missense_Mutation_p.I147T|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_3'UTR NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A 298 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) AGCCACGTTATACAGGTAACT 0.522000 113 54 0 0 1 0 0 FAM47E-STBD1 100631383 broad.mit.edu 37 4 77230498 77230498 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:77230498C>T ENST00000237642.6 + 2 1166 c.422C>T c.(421-423)tCa>tTa p.S141L FAM47E-STBD1_ENST00000539752.1_5'UTR|FAM47E_ENST00000515604.1_3'UTR NM_003943.4 NP_003934.1 TCTGAAGTTTCAAGAAATGAA 0.428000 7 32 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100485992 100485992 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:100485992A>C ENST00000388793.4 + 19 2760 c.2540A>C c.(2539-2541)aAa>aCa p.K847T SRRT_ENST00000432932.1_Missense_Mutation_p.K843T|SRRT_ENST00000457580.2_Missense_Mutation_p.K844T|SRRT_ENST00000347433.4_Missense_Mutation_p.K848T NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 848 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TATCCTGGGAAACCTCGCAAC 0.612000 11 13 0 0 1 0 0 JAM3 83700 broad.mit.edu 37 11 134010623 134010623 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:134010623G>A ENST00000299106.4 + 3 373 c.214G>A c.(214-216)Gat>Aat p.D72N JAM3_ENST00000441717.3_Missense_Mutation_p.D72N|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.D117N Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 72 Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) GAAAATTCAAGATGAACAAAC 0.438000 6 58 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453315 21453315 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:21453315C>T ENST00000307378.6 - 9 1597 c.877G>A c.(877-879)Gag>Aag p.E293K SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291K NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 293 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCTTGACCTCTTCTTTTTGT 0.299000 3 15 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 17 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51381756 51381756 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:51381756T>C ENST00000325321.3 + 5 952 c.727T>C c.(727-729)Tac>Cac p.Y243H KLK2_ENST00000391810.2_Missense_Mutation_p.Y141H|KLK2_ENST00000358049.4_3'UTR P20151 KLK2_HUMAN kallikrein-related peptidase 2 243 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GCCTGCTGTGTACACCAAGGT 0.537000 T ETV4 prostate 124 266 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60070049 60070049 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:60070049A>G ENST00000355131.3 + 6 571 c.348A>G c.(346-348)ggA>ggG p.G116G MS4A4A_ENST00000337908.4_Silent_p.G135G|MS4A4A_ENST00000395016.3_Silent_p.G116G|MS4A4A_ENST00000532114.1_Intron NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 135 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 GTAGTCTAGGAATGAATATCA 0.393000 14 69 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119182861 119182861 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:119182861C>T ENST00000392814.1 - 4 1620 c.891G>A c.(889-891)gtG>gtA p.V297V MCAM_ENST00000264036.4_Silent_p.V348V P43121 MUC18_HUMAN melanoma cell adhesion molecule 348 Ig-like C2-type 1. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTGCGGGACTCACTCGGACGT 0.627000 15 93 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92433810 92433810 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:92433810C>A ENST00000370389.2 + 4 1143 c.219C>A c.(217-219)atC>atA p.I73I BRDT_ENST00000399546.2_Silent_p.I146I|BRDT_ENST00000394530.3_Silent_p.I100I|BRDT_ENST00000402388.1_Silent_p.I146I|BRDT_ENST00000362005.3_Silent_p.I146I NM_001242810.1 NP_001229739 Q58F21 BRDT_HUMAN bromodomain, testis-specific 146 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AGGAAAGAATCAAGAAAGGTA 0.398000 12 15 7.93312e-07 8.15946e-07 1 1 0 LYST 1130 broad.mit.edu 37 1 235972637 235972637 + Missense_Mutation SNP G G A rs115019462 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:235972637G>A ENST00000389794.3 - 5 1655 c.1481C>T c.(1480-1482)tCg>tTg p.S494L LYST_ENST00000389793.2_Missense_Mutation_p.S494L|LYST_ENST00000536965.1_Missense_Mutation_p.S494L Q99698 LYST_HUMAN lysosomal trafficking regulator 494 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGTACACATCGAATGATGAAG 0.398000 26 47 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50615999 50615999 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:50615999G>C ENST00000341247.4 - 4 584 c.435C>G c.(433-435)atC>atG p.I145M LIMA1_ENST00000394943.3_Missense_Mutation_p.I145M|LIMA1_ENST00000552823.1_De_novo_Start_InFrame|LIMA1_ENST00000552783.1_De_novo_Start_InFrame|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_De_novo_Start_InFrame NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 145 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 CACCGTCCTTGATGTGGGGAT 0.453000 11 53 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38418241 38418241 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:38418241G>C ENST00000322350.5 + 12 1914 c.1568G>C c.(1567-1569)aGa>aCa p.R523T EGFLAM_ENST00000336740.6_Missense_Mutation_p.R289T|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R523T|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 523 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGTTGGTTAGAGCAACAGGG 0.512000 26 172 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49658061 49658061 + Nonsense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49658061G>C ENST00000252825.4 - 1 620 c.434C>G c.(433-435)tCa>tGa p.S145* HRC_ENST00000595625.1_Nonsense_Mutation_p.S145* NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 145 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GTGCTCAGCTGAGTCTTCCGT 0.582000 44 110 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11332548 11332548 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:11332548G>T ENST00000294618.7 - 28 3540 c.3529C>A c.(3529-3531)Cca>Aca p.P1177T DOCK6_ENST00000319867.7_Missense_Mutation_p.P516T NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1177 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TGCAGCCGTGGCAAGGTATCC 0.587000 91 200 5.80972e-51 6.33708e-51 1 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6107652 6107652 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:6107652G>A ENST00000409021.3 - 3 621 c.172C>T c.(172-174)Cgc>Tgc p.R58C JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R58C|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R58C|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Intron NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 58 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCTGCTCGCGCTCCAGCTTC 0.672000 26 45 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55066985 55066985 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:55066985G>A ENST00000371316.3 + 9 1010 c.928G>A c.(928-930)Gag>Aag p.E310K ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.E310K NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 310 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CCAGGAGGCTGAGACCCACCG 0.642000 40 99 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50616215 50616215 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:50616215C>T ENST00000341247.4 - 4 368 c.219G>A c.(217-219)aaG>aaA p.K73K LIMA1_ENST00000394943.3_Silent_p.K73K|LIMA1_ENST00000552783.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 73 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 CCCACTTCTTCTTTAACACAG 0.498000 58 89 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28151397 28151397 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:28151397C>A ENST00000305242.5 - 18 2857 c.2765G>T c.(2764-2766)gGa>gTa p.G922V ARMC4_ENST00000545014.1_Missense_Mutation_p.G447V|ARMC4_ENST00000537576.1_Missense_Mutation_p.G614V NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 922 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 AGGAACAACTCCATGATCTGT 0.343000 62 61 1.91123e-38 2.07842e-38 1 1 0 WNK1 65125 broad.mit.edu 37 12 862795 862795 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:862795G>T ENST00000537687.1 + 1 707 c.64G>T c.(64-66)Gct>Tct p.A22S WNK1_ENST00000315939.6_Missense_Mutation_p.A22S|WNK1_ENST00000447667.2_Missense_Mutation_p.A22S|WNK1_ENST00000535572.1_Missense_Mutation_p.A22S|WNK1_ENST00000530271.2_Missense_Mutation_p.A22S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 22 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTCGCCGCCGGCTCCTGCCCC 0.682000 20 37 1.10923e-09 1.15239e-09 1 1 0 NBEAL1 65065 broad.mit.edu 37 2 204078256 204078256 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:204078256C>G ENST00000449802.1 + 54 8196 c.7863C>G c.(7861-7863)atC>atG p.I2621M NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2621 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ATCTCAGCATCAACCCATTAG 0.328000 14 97 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136804268 136804268 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:136804268A>G ENST00000371851.1 - 2 603 c.278T>C c.(277-279)cTg>cCg p.L93P VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.L93P|VAV2_ENST00000406606.3_Missense_Mutation_p.L93P P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 93 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GGGGTCAAACAGCTCGCTGTT 0.502000 40 57 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113955352 113955352 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:113955352A>G ENST00000441564.3 + 14 2568 c.2399A>G c.(2398-2400)gAg>gGg p.E800G PSD4_ENST00000245796.6_Missense_Mutation_p.E829G Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGGAGGGGGAGAGCTTGGTG 0.622000 3 107 0 0 1 0 0 SLC28A3 64078 broad.mit.edu 37 9 86917263 86917263 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:86917263G>A ENST00000376238.4 - 5 425 c.376C>T c.(376-378)Cac>Tac p.H126Y SLC28A3_ENST00000537648.1_Missense_Mutation_p.H57Y NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 126 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 AGGGCTCTGTGAAAGTTCAGC 0.483000 7 20 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24479187 24479187 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:24479187G>A ENST00000398319.2 + 20 3140 c.2755G>A c.(2755-2757)Gta>Ata p.V919I CABIN1_ENST00000405822.2_Missense_Mutation_p.V869I|CABIN1_ENST00000263119.5_Missense_Mutation_p.V919I NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 919 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACAGGTGCGAGTACTCCAGAA 0.582000 3 68 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83740266 83740266 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:83740266G>C ENST00000432794.1 - 28 3826 c.3663C>G c.(3661-3663)ctC>ctG p.L1221L SEC31A_ENST00000505984.1_Silent_p.L1154L|SEC31A_ENST00000513858.1_Silent_p.L1055L|SEC31A_ENST00000509142.1_Silent_p.L1094L|SEC31A_ENST00000326950.5_Silent_p.L1169L|SEC31A_ENST00000355196.2_Silent_p.L1208L|SEC31A_ENST00000500777.2_Silent_p.L1055L|SEC31A_ENST00000264405.5_Silent_p.L957L|SEC31A_ENST00000395310.2_Silent_p.L1208L|SEC31A_ENST00000311785.7_Silent_p.L1094L|SEC31A_ENST00000348405.4_Silent_p.L1169L|SEC31A_ENST00000505472.1_Silent_p.L1239L|SEC31A_ENST00000448323.1_Silent_p.L1208L|SEC31A_ENST00000508502.1_Silent_p.L1193L|SEC31A_ENST00000443462.2_Silent_p.L1188L O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1208 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GAACAACTTTGAGAACTGGCA 0.418000 17 30 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21136222 21136222 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:21136222T>C ENST00000269228.5 - 8 1865 c.1311A>G c.(1309-1311)atA>atG p.I437M NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I187M NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 437 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCAGTATCTGTATGTCAAGCG 0.498000 35 71 0 0 1 0 0 HGSNAT 138050 broad.mit.edu 37 8 43053085 43053085 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:43053085C>G ENST00000458501.2 + 17 1800 c.1800C>G c.(1798-1800)ttC>ttG p.F600L HGSNAT_ENST00000297798.7_Missense_Mutation_p.F304L|HGSNAT_ENST00000379644.4_Missense_Mutation_p.F572L|HGSNAT_ENST00000521576.1_Missense_Mutation_p.F289L Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 600 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GAACCCCATTCTTTTATCCAG 0.547000 6 35 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72091005 72091005 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:72091005G>C ENST00000265381.4 - 3 1477 c.1255C>G c.(1255-1257)Ctt>Gtt p.L419V RP11-470P21.2_ENST00000429567.2_RNA NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 419 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle p.L419V(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CTGGGGTGAAGAGATGTGCTT 0.498000 16 55 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40590434 40590434 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:40590434G>T ENST00000342449.3 - 30 3613 c.3535C>A c.(3535-3537)Ctt>Att p.L1179I BRWD1_ENST00000380800.3_Missense_Mutation_p.L1179I|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000333229.2_Missense_Mutation_p.L1179I NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1179 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AACTTACCAAGATTCAAAAGT 0.284000 6 27 5.18039e-06 5.31303e-06 1 1 0 KIF3B 9371 broad.mit.edu 37 20 30897794 30897794 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:30897794C>T ENST00000375712.3 + 2 381 c.214C>T c.(214-216)Ctg>Ttg p.L72L NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 72 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCAGTTTGAACTGTACGATGA 0.498000 8 81 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49825019 49825019 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:49825019G>A ENST00000451037.2 - 4 1379 c.439C>T c.(439-441)Ctc>Ttc p.L147F CA10_ENST00000442502.2_Missense_Mutation_p.L147F|CA10_ENST00000340813.6_Missense_Mutation_p.L153F|CA10_ENST00000285273.4_Missense_Mutation_p.L147F|CA10_ENST00000570565.1_Missense_Mutation_p.L72F|CA10_ENST00000571918.1_5'UTR NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 147 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGTCCATTGAGGAGGTGCTCC 0.507000 38 183 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27737165 27737165 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:27737165C>T ENST00000354914.3 - 8 1757 c.1272G>A c.(1270-1272)aaG>aaA p.K424K SCARA5_ENST00000380385.2_Silent_p.K199K NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 424 SRCR. cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CTCCGTCCTTCTTGTCCCAGC 0.642000 32 118 0 0 1 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124340 142124340 + RNA SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:142124340C>T ENST00000390376.2 - 0 137 ATCCATGGTTCATATCCTGGG 0.507000 90 61 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5719793 5719793 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:5719793G>A ENST00000360614.3 - 1 508 c.351C>T c.(349-351)atC>atT p.I117I LONP1_ENST00000540670.2_Intron|LONP1_ENST00000590729.1_Silent_p.I3I|LONP1_ENST00000593119.1_Silent_p.I53I|LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000585374.1_Silent_p.I3I NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 117 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACACATCGGGGATCGTCATGG 0.697000 42 77 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49949438 49949438 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:49949438C>T ENST00000417270.1 - 4 851 c.158G>A c.(157-159)gGc>gAc p.G53D MON1A_ENST00000455683.2_Intron|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.G142D Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 45 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACCCTCCTGGCCCGCACCTGC 0.607000 21 74 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32849566 32849566 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:32849566C>T ENST00000341071.7 - 4 284 c.273G>A c.(271-273)atG>atA p.M91I BSDC1_ENST00000413080.1_Missense_Mutation_p.M74I|BSDC1_ENST00000446293.2_Missense_Mutation_p.M91I|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000449308.1_Missense_Mutation_p.M74I|BSDC1_ENST00000455895.2_Missense_Mutation_p.M74I Q9NW68 BSDC1_HUMAN BSD domain containing 1 74 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCCTTTCTTCATCTTCTCTG 0.547000 27 95 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50326727 50326727 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:50326727C>T ENST00000436390.1 - 11 1341 c.844G>A c.(844-846)Gaa>Aaa p.E282K IFRD2_ENST00000429673.2_Missense_Mutation_p.E346K|IFRD2_ENST00000336089.4_Missense_Mutation_p.E448K|IFRD2_ENST00000417626.2_Missense_Mutation_p.E282K Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 346 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCAATGGTTTCACCGGCAGCG 0.607000 4 10 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69561321 69561321 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:69561321G>A ENST00000261858.2 + 5 1820 c.1592G>A c.(1591-1593)gGa>gAa p.G531E GLCE_ENST00000559420.2_Missense_Mutation_p.G467E NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 531 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 GAAAAACTCGGAAAAGAAGCA 0.428000 19 44 0 0 1 0 0 TLCD1 116238 broad.mit.edu 37 17 27051729 27051729 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:27051729G>C ENST00000292090.3 - 4 653 c.543C>G c.(541-543)ctC>ctG p.L181L TLCD1_ENST00000394933.3_Silent_p.L134L NM_138463.3 NP_612472.1 Q96CP7 TLCD1_HUMAN TLC domain containing 1 181 TLC. integral to membrane breast(2)|endometrium(1)|kidney(2)|lung(2) 7 Lung NSC(42;0.00431) CCAGGCGGAAGAGAAAGTACA 0.512000 23 94 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47746353 47746353 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:47746353G>A ENST00000359568.5 + 2 224 c.117G>A c.(115-117)gcG>gcA p.A39A PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 39 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AAAAGACGGCGAAGAGGAAGG 0.507000 28 53 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49473902 49473902 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49473902G>T ENST00000323798.3 - 14 1906 c.1710C>A c.(1708-1710)ttC>ttA p.F570L GYS1_ENST00000544287.1_Missense_Mutation_p.F203L|GYS1_ENST00000263276.6_Missense_Mutation_p.F506L|GYS1_ENST00000541188.1_Missense_Mutation_p.F490L NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 570 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AACTGTAGAGGAAGGAGGTGA 0.592000 OREG0025611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 58 2.35188e-11 2.46469e-11 1 1 0 PTRH2 51651 broad.mit.edu 37 17 57775139 57775139 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:57775139C>T ENST00000470557.2 - 1 3647 c.201G>A c.(199-201)atG>atA p.M67I PTRH2_ENST00000537860.1_Missense_Mutation_p.M67I|PTRH2_ENST00000393038.2_Missense_Mutation_p.M67I|PTRH2_ENST00000409433.2_Missense_Mutation_p.M68I Q9Y3E5 PTH2_HUMAN peptidyl-tRNA hydrolase 2 67 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity large_intestine(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CCACAAGAATCATCTTGTACT 0.468000 36 93 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66605248 66605248 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:66605248C>G ENST00000261233.4 + 5 880 c.459C>G c.(457-459)atC>atG p.I153M IRAK3_ENST00000457197.2_Missense_Mutation_p.I92M NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 153 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) AATCTTCCATCAGCTTTCAAA 0.343000 10 14 0 0 1 0 0 NCSTN 23385 broad.mit.edu 37 1 160328025 160328025 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:160328025C>T ENST00000368063.1 + 18 2314 c.2034C>T c.(2032-2034)ttC>ttT p.F678F NCSTN_ENST00000392212.4_Silent_p.F678F|NCSTN_ENST00000294785.5_Silent_p.F698F|NCSTN_ENST00000535857.1_Silent_p.F560F|NCSTN_ENST00000368065.4_Silent_p.F440F Q92542 NICA_HUMAN nicastrin 698 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGTCCTTTTCATTGCTCCCC 0.557000 51 601 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32418957 32418957 + Splice_Site SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:32418957G>C ENST00000282587.5 + 8 438 c.e8-1 SLC30A6_ENST00000406369.1_Splice_Site|SLC30A6_ENST00000538303.1_Splice_Site|SLC30A6_ENST00000379343.2_Splice_Site|SLC30A6_ENST00000435660.1_Splice_Site|SLC30A6_ENST00000357055.3_Splice_Site NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTTCTTTTTAGGGGAAGATTA 0.363000 31 75 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118948319 118948319 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:118948319C>T ENST00000300793.6 + 10 1573 c.1531C>T c.(1531-1533)Cat>Tat p.H511Y VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 512 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CCATGCACATCATGAGTGGTA 0.517000 8 14 0 0 1 0 0 LRRC14B 389257 broad.mit.edu 37 5 195402 195402 + Silent SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:195402T>G ENST00000328278.3 + 2 1507 c.1479T>G c.(1477-1479)gcT>gcG p.A493A NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 493 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 AGCTTGGTGCTTTCTTGCTGC 0.483000 14 123 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43450624 43450624 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:43450624C>T ENST00000282041.5 - 36 6167 c.6133G>A c.(6133-6135)Gag>Aag p.E2045K EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2045 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AGAATGAACTCTGGCATTTTG 0.488000 16 39 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80767365 80767365 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:80767365C>G ENST00000533983.1 + 6 729 c.390C>G c.(388-390)ctC>ctG p.L130L ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Silent_p.L130L|ARNT2_ENST00000303329.4_Silent_p.L141L Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 141 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TGAAGCATCTCATCCTTGAAG 0.453000 6 382 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124345611 124345611 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:124345611A>G ENST00000409039.3 + 38 6473 c.6448A>G c.(6448-6450)Ata>Gta p.I2150V NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2150 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CGTGAGTGTCATAGAACTCTA 0.483000 27 32 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790762 194790762 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:194790762G>A ENST00000310380.6 - 4 972 c.864C>T c.(862-864)ttC>ttT p.F288F XXYLT1_ENST00000355729.4_Silent_p.F85F|XXYLT1_ENST00000429994.1_Silent_p.F142F|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Silent_p.F82F|XXYLT1_ENST00000437101.1_Silent_p.F85F NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 288 integral to membrane transferase activity, transferring glycosyl groups CCCCGCTGTTGAAGCCCGGCA 0.677000 28 131 0 0 1 0 0 GSTO1 9446 broad.mit.edu 37 10 106022765 106022765 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:106022765G>A ENST00000539281.1 + 4 667 c.311G>A c.(310-312)aGa>aAa p.R104K GSTO1_ENST00000369713.5_Missense_Mutation_p.R132K|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Intron NM_001191003.1 NP_001177932.1 P78417 GSTO1_HUMAN glutathione S-transferase omega 1 132 xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity large_intestine(1)|lung(1)|stomach(1) 3 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) AGCTTTATTAGAAGCCAAAAT 0.368000 11 13 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10818004 10818004 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:10818004G>A ENST00000250237.5 + 4 488 c.478G>A c.(478-480)Gac>Aac p.D160N QTRT1_ENST00000585885.1_3'UTR NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 160 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GCAGCTGGACGACGTGGTTAG 0.572000 39 215 0 0 1 0 0 FAM122A 116224 broad.mit.edu 37 9 71395443 71395443 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:71395443C>T ENST00000394264.3 + 1 480 c.363C>T c.(361-363)ttC>ttT p.F121F PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron NM_138333.3 NP_612206.3 Q96E09 F122A_HUMAN family with sequence similarity 122A 121 endometrium(1)|lung(2) 3 AGGAAAGTTTCAGCCTGAGTG 0.557000 108 173 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 139981500 139981500 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:139981500T>A ENST00000371589.4 + 1 122 c.49T>A c.(49-51)Tcg>Acg p.S17T NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 17 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TTCCTCTCAGTCGGACTTCCT 0.692000 8 5 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 875769 875769 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:875769G>C ENST00000314167.4 - 15 1697 c.1587C>G c.(1585-1587)ttC>ttG p.F529L GAK_ENST00000511163.1_Missense_Mutation_p.F450L NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 529 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CCGCGGTGCTGAAGAGACGGC 0.642000 12 8 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7247274 7247274 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:7247274G>A ENST00000379938.2 + 12 5128 c.4591G>A c.(4591-4593)Gac>Aac p.D1531N RREB1_ENST00000349384.6_Missense_Mutation_p.D1476N|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Missense_Mutation_p.D1476N NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1476 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGGCCCCTCCGACGGGGAGAG 0.672000 3 25 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 875739 875739 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:875739G>A ENST00000314167.4 - 15 1727 c.1617C>T c.(1615-1617)ttC>ttT p.F539F GAK_ENST00000511163.1_Silent_p.F460F NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 539 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GCTTCATGCTGAACATGTACA 0.652000 14 10 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885744 29885744 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:29885744T>C ENST00000310624.6 + 4 2148 c.2115T>C c.(2113-2115)ccT>ccC p.P705P NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 711 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CAAAGTCCCCTGAGAAGGCCA 0.562000 3 163 0 0 1 0 0 LRRC57 255252 broad.mit.edu 37 15 42840409 42840409 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:42840409G>A ENST00000323443.2 - 2 485 c.118C>T c.(118-120)Ctc>Ttc p.L40F LRRC57_ENST00000563454.1_Missense_Mutation_p.L40F|LRRC57_ENST00000397130.3_Missense_Mutation_p.L40F Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 40 breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) ATGGTCCTGAGATTGCTCGTC 0.552000 34 137 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72775115 72775115 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:72775115C>T ENST00000299687.5 + 8 5438 c.5438C>T c.(5437-5439)tCc>tTc p.S1813F NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S1813C(1) central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGCATTGTTTCCAAGTCGTAC 0.557000 53 88 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63995992 63995992 + Translation_Start_Site SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:63995992C>A ENST00000315289.2 - 0 30 RTKN2_ENST00000395265.1_Missense_Mutation_p.K173N|RTKN2_ENST00000373789.3_Missense_Mutation_p.K173N Q8IZC4 RTKN2_HUMAN rhotekin 2 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) ACACTTCCACCTTTATCTGAA 0.328000 8 24 0.335167 0.3361 1 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 38 0 0 1 0 0 NRIP2 83714 broad.mit.edu 37 12 2944040 2944040 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:2944040G>A ENST00000337508.4 - 1 150 c.110C>T c.(109-111)cCc>cTc p.P37L NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 37 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCTCGGTGGGGGCGTCACCGA 0.632000 44 94 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135369290 135369290 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:135369290G>A ENST00000368517.3 - 10 743 c.605C>T c.(604-606)gCc>gTc p.A202V SYCE1_ENST00000432597.2_Missense_Mutation_p.A202V|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.A238V NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 238 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTACACTGTGGCTGCAGCCTC 0.632000 52 32 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97618083 97618083 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:97618083C>T ENST00000182096.4 + 11 2167 c.2103C>T c.(2101-2103)atC>atT p.I701I NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 ATAATATAATCATGTCGATAC 0.363000 41 43 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154506049 154506049 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:154506049C>T ENST00000409663.3 + 12 1172 c.1120C>T c.(1120-1122)Cta>Tta p.L374L KIAA0922_ENST00000440693.1_Silent_p.L375L|KIAA0922_ENST00000409959.3_Silent_p.L375L NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 374 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CACTCCAACACTAAAAGCATG 0.393000 25 43 0 0 1 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392709 22392709 + RNA SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:22392709A>T ENST00000390440.2 + 0 307 TGACGAGCAAAATGCAACAGA 0.433000 22 112 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62783397 62783397 + RNA SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:62783397G>C ENST00000582986.1 - 0 2175 NR_024386.1 GAACCTATGCGGAGACTCCAA 0.493000 5 43 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14941941 14941941 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:14941941C>G ENST00000285046.5 + 8 3296 c.3186C>G c.(3184-3186)gcC>gcG p.A1062A FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.A821A NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1062 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CGGACTCCGCCGAGTACGACA 0.577000 8 39 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39846247 39846247 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:39846247G>A ENST00000538976.1 + 13 1610 c.1428G>A c.(1426-1428)aaG>aaA p.K476K DAAM2_ENST00000398904.2_Silent_p.K476K|DAAM2_ENST00000274867.4_Silent_p.K476K NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 476 actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CATTGGAGAAGGAAGAGATGA 0.587000 10 13 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2159835 2159835 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:2159835C>G ENST00000302401.3 + 2 545 c.25C>G c.(25-27)Cgc>Ggc p.R9G SMARCA2_ENST00000382194.1_Intron|SMARCA2_ENST00000382185.1_5'UTR|SMARCA2_ENST00000349721.2_Intron|SMARCA2_ENST00000357248.2_Intron|SMARCA2_ENST00000382186.1_Intron|SMARCA2_ENST00000324954.5_5'UTR|SMARCA2_ENST00000382203.1_Intron P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ACTAGCAGCTCGCTGCTTTGC 0.388000 22 16 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917593 99917593 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:99917593G>A ENST00000332397.6 + 10 1814 c.1630G>A c.(1630-1632)Gat>Aat p.D544N SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167N NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 544 p.D544N(1) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GTGGGCGCGAGATCGCGCCCA 0.582000 27 18 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155533181 155533181 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:155533181G>A ENST00000404648.3 - 3 535 c.296C>T c.(295-297)tCa>tTa p.S99L FGG_ENST00000336098.3_Missense_Mutation_p.S99L|FGG_ENST00000405164.1_Missense_Mutation_p.S99L|FGG_ENST00000407946.1_Missense_Mutation_p.S99L NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 99 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TGGTTTTGATGATTCATCAGG 0.308000 4 21 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660819 46660819 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:46660819G>C ENST00000544460.1 + 1 5208 c.4954G>C c.(4954-4956)Gac>Cac p.D1652H TDRD6_ENST00000316081.6_Missense_Mutation_p.D1652H NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1652 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AGAGGGAAATGACTATTTCTA 0.378000 17 69 0 0 1 0 0 PAK1IP1 55003 broad.mit.edu 37 6 10697685 10697685 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:10697685G>A ENST00000379568.3 + 2 504 c.213G>A c.(211-213)aaG>aaA p.K71K NM_017906.2 NP_060376.2 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 71 negative regulation of signal transduction nucleolus|plasma membrane kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) ACATGAAAAAGAAGATTGAGC 0.393000 7 106 0 0 1 0 0 SLC25A11 8402 broad.mit.edu 37 17 4841188 4841188 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:4841188C>T ENST00000225665.7 - 8 1133 c.793G>A c.(793-795)Gtg>Atg p.V265M SLC25A11_ENST00000544061.2_Missense_Mutation_p.V214M NM_001165417.1|NM_003562.4 NP_001158889.1|NP_003553.2 Q02978 M2OM_HUMAN solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 265 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 TTGAACAGCACGTCCTAGACA 0.627000 28 69 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33400506 33400506 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:33400506G>A ENST00000418600.2 + 5 533 c.432G>A c.(430-432)acG>acA p.T144T SYNGAP1_ENST00000428982.2_Silent_p.T85T|SYNGAP1_ENST00000293748.5_Silent_p.T144T|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 144 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TCAAACGAACGAAGTCACAAC 0.582000 24 61 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128482710 128482710 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:128482710G>C ENST00000322313.4 - 9 1089 c.931C>G c.(931-933)Ctc>Gtc p.L311V NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 311 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AGTTTACAGAGATGATCACGT 0.383000 9 13 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14665990 14665990 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:14665990C>T ENST00000282096.4 + 1 722 c.369C>T c.(367-369)ttC>ttT p.F123F PDE3B_ENST00000455098.2_Silent_p.F123F|PDE3B_ENST00000534317.1_3'UTR NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 123 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 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCCCCCTCTTCAGCATCGCCT 0.716000 33 32 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67314065 67314065 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:67314065C>T ENST00000360461.5 + 1 2653 c.118C>T c.(118-120)Cag>Tag p.Q40* PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.Q40*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.Q40*|PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.Q40* NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 40 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) ACCTGCTTCCCAGATGCACGT 0.592000 55 50 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688717 109688717 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:109688717C>A ENST00000277225.5 + 3 2813 c.2524C>A c.(2524-2526)Ctt>Att p.L842I ZNF462_ENST00000457913.1_Missense_Mutation_p.L842I Q96JM2 ZN462_HUMAN zinc finger protein 462 842 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CTCTGGAAGGCTTTACTATTG 0.423000 71 109 1.39921e-30 1.51476e-30 1 1 0 NGLY1 55768 broad.mit.edu 37 3 25770771 25770771 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:25770771C>G ENST00000428257.1 - 10 1517 c.1410G>C c.(1408-1410)aaG>aaC p.K470N NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.K488N|NGLY1_ENST00000417874.2_Missense_Mutation_p.K446N|NGLY1_ENST00000396649.3_Missense_Mutation_p.K488N|NGLY1_ENST00000467224.1_5'UTR NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 488 PAW. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 GTTTAGAAATCTTCTCATTTT 0.313000 11 13 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40575088 40575088 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:40575088C>G ENST00000357037.5 - 1 447 c.28G>C c.(28-30)Gag>Cag p.E10Q NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 10 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) AGCGGCCGCTCGACAATATAG 0.726000 3 8 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64010869 64010869 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:64010869T>C ENST00000443617.2 - 21 3969 c.3882A>G c.(3880-3882)tcA>tcG p.S1294S NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1294 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GGTACACTTCTGATAAGTGTT 0.358000 3 8 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103279421 103279421 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:103279421C>A ENST00000376052.3 + 7 860 c.844C>A c.(844-846)Cgg>Agg p.R282R TPP2_ENST00000376065.4_Silent_p.R282R P29144 TPP2_HUMAN tripeptidyl peptidase II 282 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAACCTGAACGGAATGGGGT 0.463000 31 92 5.8336e-16 6.19444e-16 1 1 0 C15orf52 388115 broad.mit.edu 37 15 40627522 40627522 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:40627522C>T ENST00000397536.2 - 7 847 c.812G>A c.(811-813)gGa>gAa p.G271E C15orf52_ENST00000559313.1_Missense_Mutation_p.G481E Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 481 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GAGCCCTGCTCCTCTCTGTGG 0.657000 23 108 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156105709 156105709 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:156105709G>A ENST00000368300.4 + 6 1166 c.954G>A c.(952-954)gcG>gcA p.A318A LMNA_ENST00000448611.2_Silent_p.A206A|LMNA_ENST00000392353.3_Silent_p.A237A|LMNA_ENST00000368297.1_Silent_p.A237A|LMNA_ENST00000368301.2_Silent_p.A318A|LMNA_ENST00000347559.2_Silent_p.A318A|LMNA_ENST00000368299.3_Silent_p.A318A|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Silent_p.A219A|LMNA_ENST00000361308.4_Silent_p.A318A NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 318 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) CCAAGGAGGCGAAGCTTCGAG 0.657000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 19 41 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56497803 56497803 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:56497803T>A ENST00000370754.5 - 27 3554 c.3555A>T c.(3553-3555)caA>caT p.Q1185H DST_ENST00000518935.1_Missense_Mutation_p.Q681H|DST_ENST00000312431.6_Missense_Mutation_p.Q1007H|DST_ENST00000446842.2_Missense_Mutation_p.Q681H|DST_ENST00000370788.2_Missense_Mutation_p.Q1007H|DST_ENST00000370769.4_Missense_Mutation_p.Q1007H|DST_ENST00000244364.6_Missense_Mutation_p.Q681H|DST_ENST00000361203.3_Missense_Mutation_p.Q1007H|DST_ENST00000370765.6_Missense_Mutation_p.Q681H|DST_ENST00000421834.2_Missense_Mutation_p.Q1007H Q03001 DYST_HUMAN dystonin 1007 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TACTTAGAACTTGCTGATGTT 0.373000 31 43 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3499318 3499318 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:3499318C>T ENST00000315677.3 - 13 3394 c.2799G>A c.(2797-2799)ctG>ctA p.L933L DLGAP1_ENST00000584874.1_Silent_p.L933L|DLGAP1_ENST00000534970.1_Silent_p.L617L|DLGAP1_ENST00000400150.3_Silent_p.L649L|DLGAP1_ENST00000400147.2_Silent_p.L631L|DLGAP1_ENST00000400155.1_Silent_p.L639L|DLGAP1_ENST00000539435.1_Silent_p.L641L|DLGAP1_ENST00000581699.1_Silent_p.L639L|DLGAP1_ENST00000400149.3_Silent_p.L623L NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 933 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GCGAGCTCTCCAGCGAGCGCT 0.697000 3 9 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137798473 137798473 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:137798473A>G ENST00000242375.3 + 8 935 c.893A>G c.(892-894)gAc>gGc p.D298G AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.D257G NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 298 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 GAAATGAAGGACATTGAAGCC 0.388000 13 23 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40711471 40711471 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:40711471A>T ENST00000454349.2 + 20 5074 c.4863A>T c.(4861-4863)tcA>tcT p.S1621S TNRC6B_ENST00000301923.9_Silent_p.S817S|TNRC6B_ENST00000402203.1_Silent_p.S817S|TNRC6B_ENST00000335727.9_Silent_p.S1511S NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1621 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CACCCCGATCAGTCAGGGGGT 0.582000 39 147 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121878735 121878735 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:121878735G>A ENST00000377069.4 - 20 3693 c.3287C>T c.(3286-3288)tCg>tTg p.S1096L KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S533L|KDM2B_ENST00000377071.4_Missense_Mutation_p.S1165L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1165 F-box. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus 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|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GCAAAGGGCCGAGACCGCGAT 0.637000 28 87 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61623247 61623247 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:61623247G>A ENST00000583023.1 + 14 2980 c.2969G>A c.(2968-2970)gGg>gAg p.G990E KCNH6_ENST00000456941.2_Missense_Mutation_p.G901E|KCNH6_ENST00000581784.1_Missense_Mutation_p.G901E|KCNH6_ENST00000314672.5_Missense_Mutation_p.G954E NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 990 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GGATTTGCAGGGAGTTGGGGC 0.567000 17 52 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98408463 98408463 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:98408463C>G ENST00000339364.5 - 7 1257 c.1138G>C c.(1138-1140)Gag>Cag p.E380Q PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E202Q|PIK3AP1_ENST00000468783.1_5'UTR NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 380 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CCGTGTTTCTCAGCGATGGTG 0.572000 25 23 0 0 1 0 0 RUVBL1 8607 broad.mit.edu 37 3 127842556 127842556 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:127842556C>G ENST00000322623.5 - 1 111 c.12G>C c.(10-12)gaG>gaC p.E4D RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Missense_Mutation_p.E4D NM_003707.2 NP_003698.1 Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 4 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) TCTTCACCTCCTCAATCTTCA 0.612000 17 62 0 0 1 0 0 CCDC71 64925 broad.mit.edu 37 3 49201299 49201299 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:49201299T>A ENST00000321895.6 - 2 449 c.343A>T c.(343-345)Aca>Tca p.T115S NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 115 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGAAGCAGTGTGGCCCGACCT 0.602000 43 64 0 0 1 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113660357 113660357 + RNA SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:113660357G>A ENST00000393544.2 + 0 405 CCTGGCAGAGGTGAAGGACTC 0.562000 8 3 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153069709 153069709 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:153069709G>A ENST00000164640.4 - 8 1600 c.1409C>T c.(1408-1410)gCc>gTc p.A470V PDZD4_ENST00000393758.2_Missense_Mutation_p.A395V|PDZD4_ENST00000544474.1_Missense_Mutation_p.A361V NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 470 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTGTTGTAGGCGCTGGTGCT 0.672000 23 11 0 0 1 0 0 LIAS 11019 broad.mit.edu 37 4 39471649 39471649 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:39471649G>A ENST00000261434.3 + 8 866 c.748G>A c.(748-750)Gat>Aat p.D250N LIAS_ENST00000381846.1_Missense_Mutation_p.D207N|LIAS_ENST00000513731.1_Missense_Mutation_p.D120N|LIAS_ENST00000340169.2_Missense_Mutation_p.D250N NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 250 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) TAAGGTTCGTGATCCTCGGGC 0.413000 9 49 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40716813 40716813 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:40716813G>A ENST00000393818.2 + 4 1590 c.1134G>A c.(1132-1134)ctG>ctA p.L378L COASY_ENST00000449624.1_Silent_p.L83L|COASY_ENST00000590958.1_Silent_p.L407L|COASY_ENST00000420359.1_Silent_p.L378L|COASY_ENST00000421097.2_Silent_p.L378L NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 378 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CTCAGCGACTGAAGGGCCTGG 0.587000 39 73 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45860556 45860556 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:45860556G>A ENST00000391945.4 - 15 1528 c.1451C>T c.(1450-1452)aCg>aTg p.T484M ERCC2_ENST00000391944.3_Missense_Mutation_p.T406M NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 484 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCGTGCCAGCGTCATGGTGAA 0.652000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 27 50 0 0 1 0 0 MFSD10 10227 broad.mit.edu 37 4 2935298 2935298 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:2935298G>A ENST00000329687.4 - 2 798 c.264C>T c.(262-264)ttC>ttT p.F88F MFSD10_ENST00000514800.1_Silent_p.F88F|MFSD10_ENST00000355443.4_Silent_p.F88F|MFSD10_ENST00000507555.1_Silent_p.F88F|MFSD10_ENST00000508221.1_Silent_p.F88F NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 88 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCATACCTCCGAACAGGACAC 0.632000 15 50 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63908715 63908715 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:63908715C>T ENST00000443617.2 - 75 13942 c.13855G>A c.(13855-13857)Gag>Aag p.E4619K NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4619 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCCACCTCCTCCAGGTCCTCT 0.542000 25 51 0 0 1 0 0 PSAP 5660 broad.mit.edu 37 10 73581638 73581638 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:73581638T>C ENST00000394936.3 - 8 1051 c.904A>G c.(904-906)Att>Gtt p.I302V PSAP_ENST00000394934.1_Missense_Mutation_p.I304V P07602 SAP_HUMAN prosaposin 302 glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 GGTACCTTAATGGGCTCCACC 0.527000 26 58 0 0 1 0 0 PCTP 58488 broad.mit.edu 37 17 53844767 53844767 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:53844767C>T ENST00000576183.1 + 2 256 c.213C>T c.(211-213)atC>atT p.I71I PCTP_ENST00000573500.1_Silent_p.I71I|PCTP_ENST00000268896.5_Silent_p.I71I|PCTP_ENST00000325214.6_5'UTR Q9UKL6 PPCT_HUMAN phosphatidylcholine transfer protein 71 START. cytosol phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(1;0.00207) TGGCAGACATCTATATGGACT 0.378000 21 36 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99160214 99160214 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:99160214C>T ENST00000370992.4 - 2 328 c.217G>A c.(217-219)Gaa>Aaa p.E73K RRP12_ENST00000315563.6_Missense_Mutation_p.E73K|RRP12_ENST00000414986.1_Missense_Mutation_p.E73K NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 73 integral to membrane|nuclear membrane|nucleolus protein binding p.E73K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCCGGGGCTTCGCTTTTGCCC 0.562000 50 49 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2900817 2900817 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:2900817G>T ENST00000380698.4 - 2 118 c.29C>A c.(28-30)aCt>aAt p.T10N NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 10 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TATGGCAAAAGTACCACTTGC 0.458000 128 234 8.06247e-56 8.80763e-56 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46254142 46254142 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:46254142G>A ENST00000372004.3 + 5 490 c.274G>A c.(274-276)Gat>Aat p.D92N NCOA3_ENST00000371998.3_Missense_Mutation_p.D92N|NCOA3_ENST00000371997.3_Missense_Mutation_p.D92N|NCOA3_ENST00000341724.6_Missense_Mutation_p.D92N NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 92 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 breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TATTTCCAATGATGATGATGT 0.368000 54 39 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729276 196729276 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:196729276G>C ENST00000312428.6 - 41 7203 c.7103C>G c.(7102-7104)tCt>tGt p.S2368C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2368 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATACCCCTTAGAGATTTCAAC 0.448000 9 70 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71949115 71949115 + Silent SNP C C T rs34634942 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:71949115C>T ENST00000541756.1 + 27 3786 c.2856C>T c.(2854-2856)agC>agT p.S952S INPPL1_ENST00000298229.2_Silent_p.S1194S|INPPL1_ENST00000538751.1_Silent_p.S952S O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1194 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGCGGGCCAGCGGGCTGGGCG 0.652000 OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 53 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7175803 7175803 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:7175803G>A ENST00000406697.1 + 14 1867 c.1239G>A c.(1237-1239)gtG>gtA p.V413V C1S_ENST00000402681.3_Silent_p.V246V|C1S_ENST00000360817.5_Silent_p.V413V|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Silent_p.V413V P09871 C1S_HUMAN complement component 1, s subcomponent 413 Sushi 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGAATGAGGTGCTGGGCCCGG 0.552000 44 106 0 0 1 0 0 NHLRC3 387921 broad.mit.edu 37 13 39621833 39621833 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:39621833T>C ENST00000379600.3 + 7 1136 c.814T>C c.(814-816)Ttg>Ctg p.L272L NHLRC3_ENST00000470258.1_Silent_p.L75L|NHLRC3_ENST00000379599.2_Silent_p.L205L NM_001012754.3 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 272 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) TGGGAAGTACTTGATTGTGGC 0.423000 23 16 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127528008 127528008 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:127528008G>T ENST00000354725.3 + 13 1591 c.1397G>T c.(1396-1398)cGg>cTg p.R466L NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 466 TNase-like 3. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 ATCAGATACCGGCAGGATGAT 0.488000 3 65 0.014758 0.0149027 1 1 0 FBN2 2201 broad.mit.edu 37 5 127622542 127622542 + Splice_Site SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:127622542C>G ENST00000508053.1 - 61 7855 c.e61-1 FBN2_ENST00000262464.4_Splice_Site P35556 FBN2_HUMAN fibrillin 2 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCATCCAGATCTAGAACaaaa 0.378000 12 23 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64972254 64972254 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:64972254C>G ENST00000527323.1 + 10 1506 c.1266C>G c.(1264-1266)gcC>gcG p.A422A CAPN1_ENST00000533129.1_Silent_p.A422A|CAPN1_ENST00000533820.1_Silent_p.A422A|CAPN1_ENST00000524773.1_Silent_p.A422A|CAPN1_ENST00000279247.6_Silent_p.A422A P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 422 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) TCGTGCTCGCCCTTATGCAGA 0.637000 OREG0021073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 84 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16902787 16902787 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:16902787C>A ENST00000430580.2 - 19 2981 c.2094G>T c.(2092-2094)caG>caT p.Q698H NBPF1_ENST00000287968.8_Missense_Mutation_p.Q63H|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q156H NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 698 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGACAAGGTGCTGTGCCAGTC 0.562000 40 1198 5.45727e-16 5.80338e-16 1 1 0 TMEM63B 55362 broad.mit.edu 37 6 44119725 44119725 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:44119725G>A ENST00000259746.9 + 19 1999 c.1816G>A c.(1816-1818)Gag>Aag p.E606K TMEM63B_ENST00000323267.6_Missense_Mutation_p.E606K Q5T3F8 TM63B_HUMAN transmembrane protein 63B 606 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CTCGGCCGCCGAGAGGCGCAA 0.677000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 15 0 0 1 0 0 KDELC2 143888 broad.mit.edu 37 11 108357021 108357021 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:108357021G>A ENST00000434945.2 - 2 681 c.379C>T c.(379-381)Ccc>Tcc p.P127S KDELC2_ENST00000375648.1_Missense_Mutation_p.P127S|KDELC2_ENST00000323468.5_Missense_Mutation_p.P183S Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 183 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) AACCTTTTGGGGACTTCTTTT 0.423000 67 76 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510978 56510978 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:56510978C>T ENST00000302957.3 - 1 309 c.310G>A c.(310-312)Gat>Aat p.D104N NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ATGCGCTTATCTTCTGAGACA 0.458000 57 77 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21792872 21792872 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:21792872C>G ENST00000206660.6 + 14 1858 c.1858C>G c.(1858-1860)Ctg>Gtg p.L620V RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L582V|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.L620V|RPGRIP1_ENST00000307974.4_Silent_p.L28L Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 620 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GGATATTTCTCTGCTGCATCA 0.493000 17 85 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576243 158576243 + Missense_Mutation SNP C C G rs140704584 byFrequency TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:158576243C>G ENST00000361284.1 + 1 15 c.15C>G c.(13-15)aaC>aaG p.N5K NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGCAGACCAACGTAACCTCCT 0.468000 6 66 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124330151 124330151 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:124330151G>A ENST00000409039.3 + 30 5036 c.5011G>A c.(5011-5013)Gac>Aac p.D1671N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1671 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTGCAGAGTCGACTGGATGCT 0.532000 25 32 0 0 1 0 0 EPN3 55040 broad.mit.edu 37 17 48614133 48614133 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:48614133G>A ENST00000268933.3 + 2 795 c.216G>A c.(214-216)cgG>cgA p.R72R EPN3_ENST00000537145.1_Silent_p.R127R|EPN3_ENST00000541226.1_Silent_p.R16R NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 72 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) AGAACTGGCGGCACGTGTACA 0.597000 31 131 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 284199 284199 + Nonstop_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:284199G>C ENST00000538872.1 + 14 3667 c.3549G>C c.(3547-3549)taG>taC p.*1183Y RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_Intron|IQSEC3_ENST00000326261.4_Nonstop_Mutation_p.*1183Y Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 0 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCCTGGTGTAGACTCTGCCCC 0.692000 16 15 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216062088 216062088 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:216062088C>T ENST00000366943.2 - 41 8289 c.7903G>A c.(7903-7905)Gat>Aat p.D2635N USH2A_ENST00000307340.3_Missense_Mutation_p.D2635N|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2635 Fibronectin type-III 13. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.D2635N(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTGGAGTATCAGAGAACAGC 0.498000 HNSCC(13;0.011) 15 21 0 0 1 0 0 MIEF2 125170 broad.mit.edu 37 17 18167285 18167285 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:18167285C>T ENST00000323019.4 + 4 783 c.572C>T c.(571-573)gCg>gTg p.A191V MIEF2_ENST00000395706.2_Missense_Mutation_p.A202V|MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395704.4_Silent_p.C166C NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 mitochondrial elongation factor 2 191 GCGGGGGCTGCGGACCATGTG 0.701000 8 17 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43816763 43816763 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:43816763G>T ENST00000382031.1 + 5 3837 c.3806G>T c.(3805-3807)gGa>gTa p.G1269V MAP1A_ENST00000300231.5_Missense_Mutation_p.G1031V|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1031V P78559 MAP1A_HUMAN microtubule-associated protein 1A 1031 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACTCCTGGGGAGACACTAAG 0.562000 41 50 4.67007e-22 5.01806e-22 1 1 0 SPTBN1 6711 broad.mit.edu 37 2 54848571 54848571 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:54848571A>T ENST00000333896.5 + 7 1144 c.759A>T c.(757-759)atA>atT p.I253I SPTBN1_ENST00000356805.4_Silent_p.I266I NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 266 Actin-binding.|CH 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGAAGTCCATAATCACTTATG 0.463000 33 72 0 0 1 0 0 RFXAP 5994 broad.mit.edu 37 13 37394043 37394043 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:37394043G>A ENST00000255476.2 + 1 683 c.549G>A c.(547-549)ctG>ctA p.L183L NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 183 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) ACCAGGCCCTGAACTGCGGTG 0.557000 18 18 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113363413 113363413 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:113363413T>C ENST00000297405.5 - 40 6560 c.6316A>G c.(6316-6318)Att>Gtt p.I2106V CSMD3_ENST00000455883.2_Missense_Mutation_p.I2002V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2036V|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2066V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2106 Sushi 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCTAAACAAATTGGGATTGGA 0.303000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 85 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108338853 108338853 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:108338853G>A ENST00000344440.6 - 26 3527 c.3528C>T c.(3526-3528)ctC>ctT p.L1176L SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Silent_p.L711L NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1 NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 0 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATTTACCTATGAGCTGGGATT 0.498000 20 18 0 0 1 0 0 RAMP1 10267 broad.mit.edu 37 2 238820246 238820246 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:238820246G>T ENST00000254661.4 + 3 400 c.268G>T c.(268-270)Gac>Tac p.D90Y RAMP1_ENST00000409726.1_Missense_Mutation_p.D68Y|RAMP1_ENST00000403885.1_Missense_Mutation_p.D68Y|RAMP1_ENST00000404910.2_Missense_Mutation_p.D68Y NM_005855.2 NP_005846.1 O60894 RAMP1_HUMAN receptor (G protein-coupled) activity modifying protein 1 90 intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity kidney(1)|large_intestine(1)|lung(2) 4 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) TGCAGAGGTGGACAGGTTCTT 0.642000 38 55 4.01765e-15 4.2474e-15 1 1 0 OR6A2 8590 broad.mit.edu 37 11 6816047 6816047 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:6816047C>T ENST00000332601.3 - 1 1081 c.893G>A c.(892-894)cGc>cAc p.R298H NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCTTGATTGCGCAGGCAGTA 0.488000 30 73 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150911821 150911821 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:150911821C>T ENST00000329903.4 + 6 879 c.846C>T c.(844-846)atC>atT p.I282I NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 282 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCTACATCTTGGTCATCA 0.507000 90 48 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55524222 55524222 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:55524222T>G ENST00000288135.5 + 1 138 c.41T>G c.(40-42)cTg>cGg p.L14R NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 14 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCTGCGTTCTGCTCCTACTG 0.667000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 24 31 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12653512 12653512 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:12653512A>C ENST00000251849.4 - 3 696 c.257T>G c.(256-258)cTc>cGc p.L86R RAF1_ENST00000442415.2_Missense_Mutation_p.L86R|RAF1_ENST00000542177.1_Intron NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 86 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) CCTCACCTTGAGTGCTTTCAT 0.488000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 47 172 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121615184 121615184 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:121615184C>T ENST00000328963.5 + 10 1067 c.613C>T c.(613-615)Cag>Tag p.Q205* P2RX7_ENST00000541446.1_Nonsense_Mutation_p.Q86*|P2RX7_ENST00000535250.1_Nonsense_Mutation_p.Q285*|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000546057.1_Nonsense_Mutation_p.Q375* A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 375 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAGTGCTGTCAGCCCTGTGT 0.532000 13 58 0 0 1 0 0 MRPL16 54948 broad.mit.edu 37 11 59578113 59578113 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:59578113G>A ENST00000300151.4 - 1 232 c.19C>T c.(19-21)Cgc>Tgc p.R7C NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 7 rRNA binding central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11 GCACTAGCGCGAGCCAGCAGC 0.652000 45 80 0 0 1 0 0 KDM4E 390245 broad.mit.edu 37 11 94759441 94759441 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:94759441G>C ENST00000450979.2 + 1 1020 c.720G>C c.(718-720)cgG>cgC p.R240R NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 240 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 CCTTCCTGCGGCACAAAGTGG 0.562000 17 20 0 0 1 0 0 SKOR2 652991 broad.mit.edu 37 18 44775013 44775013 + Missense_Mutation SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:44775013A>T ENST00000425639.1 - 1 541 c.542T>A c.(541-543)tTc>tAc p.F181Y SKOR2_ENST00000400404.1_Missense_Mutation_p.F181Y NM_001278063.1 NP_001264992.1 Q2VWA4 SKOR2_HUMAN SKI family transcriptional corepressor 2 181 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|SMAD binding|transcription corepressor activity|transcription repressor activity endometrium(1) 1 GTTGGGCGAGAAGTACATGTT 0.597000 4 10 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111794169 111794169 + Splice_Site SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:111794169C>G ENST00000452346.2 + 15 1788 c.1785C>G c.(1783-1785)acC>acG p.T595T TMPRSS7_ENST00000419127.1_Splice_Site_p.T469T Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 595 LDL-receptor class A 3. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CCACCAAAGCCTGCAGCAGGA 0.532000 32 131 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409311 28409311 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:28409311G>C ENST00000337532.5 - 11 975 c.699C>G c.(697-699)atC>atG p.I233M MPP7_ENST00000375719.3_Missense_Mutation_p.I233M|MPP7_ENST00000375732.1_Missense_Mutation_p.I233M|MPP7_ENST00000540098.1_Missense_Mutation_p.I233M|MPP7_ENST00000445954.2_Missense_Mutation_p.I108M NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 233 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGAGGGCTTTGATAAACATCT 0.338000 31 36 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480283 102480283 + Splice_Site SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:102480283G>C ENST00000324219.4 + 17 1941 c.1867G>C c.(1867-1869)Gta>Cta p.V623L MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000350878.4_Splice_Site_p.V518L|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000425019.1_Intron O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 558 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTCTTGTAAGGTACAGTGGTC 0.458000 49 212 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225751218 225751218 + Silent SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:225751218T>A ENST00000409592.3 - 5 542 c.429A>T c.(427-429)tcA>tcT p.S143S DOCK10_ENST00000258390.7_Silent_p.S149S Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 149 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 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) CAAAGGAATGTGAAGGAAGCT 0.333000 10 5 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779539 97779539 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:97779539C>G ENST00000420699.2 + 1 307 c.63C>G c.(61-63)ttC>ttG p.F21L ANKRD36_ENST00000461153.2_Missense_Mutation_p.F21L NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 21 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CGGATGGCTTCGCATTTCCCC 0.512000 54 90 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118494605 118494605 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:118494605G>A ENST00000349139.5 + 17 1857 c.1810G>A c.(1810-1812)Gca>Aca p.A604T NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) ATAGGATGGAGCACTCATAGC 0.383000 3 96 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25044606 25044606 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:25044606C>G ENST00000216336.2 - 2 104 c.68G>C c.(67-69)gGa>gCa p.G23A NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 23 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CTCCCGGCCTCCGATGATCTC 0.567000 108 128 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113304838 113304838 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:113304838G>A ENST00000297405.5 - 55 8960 c.8716C>T c.(8716-8718)Ctt>Ttt p.L2906F CSMD3_ENST00000455883.2_Missense_Mutation_p.L2737F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2836F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2866F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2906 Sushi 19. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCTTGCATAAGATACCCAATA 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 156 0 0 1 0 0 SDHAF1 644096 broad.mit.edu 37 19 36486268 36486268 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:36486268G>C ENST00000378887.2 + 1 179 c.92G>C c.(91-93)cGa>cCa p.R31P NM_001042631.2 NP_001036096 A6NFY7 SDHF1_HUMAN succinate dehydrogenase complex assembly factor 1 31 iron-sulfur cluster assembly|mitochondrial respiratory chain complex II assembly mitochondrial matrix GCCGAGGCGCGAGTGCGGGCA 0.736000 3 3 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2432685 2432685 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:2432685C>G ENST00000452833.1 - 18 2693 c.2685G>C c.(2683-2685)gcG>gcC p.A895A TRPM5_ENST00000533060.1_Silent_p.A893A|TRPM5_ENST00000528453.1_Silent_p.A893A|TRPM5_ENST00000155858.6_Silent_p.A893A Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 893 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGTGCAGCAGCGCCTGGGTGG 0.632000 44 30 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79943007 79943007 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:79943007C>G ENST00000438737.2 - 6 1193 c.753G>C c.(751-753)ttG>ttC p.L251F RBM26_ENST00000267229.7_Missense_Mutation_p.L251F|RBM26_ENST00000438724.1_Missense_Mutation_p.L251F Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 251 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TAGTGCTGCTCAAAGTAGGTA 0.398000 3 131 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80672819 80672819 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:80672819G>A ENST00000458043.2 + 25 2780 c.2774G>A c.(2773-2775)cGa>cAa p.R925Q OTOGL_ENST00000547103.1_Missense_Mutation_p.R925Q NM_173591.3 NP_775862.3 otogelin-like p.R925L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTTTGTCGACGAGGAATGTTC 0.358000 35 181 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130840372 130840372 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:130840372C>T ENST00000509018.1 - 11 1406 c.1201G>A c.(1201-1203)Gag>Aag p.E401K RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E401K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E401K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E401K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E401K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E451K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E401K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E116K NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 401 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TCCCGATGCTCATGTACCATA 0.383000 41 45 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 33264982 33264982 + Missense_Mutation SNP C C T rs77543787 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:33264982C>T ENST00000358763.2 - 5 834 c.592G>A c.(592-594)Gtc>Atc p.V198I SYN3_ENST00000332840.5_Missense_Mutation_p.V198I NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 198 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AAGTTGTAGACGGAGTAGAGA 0.632000 19 40 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167277882 167277882 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:167277882A>G ENST00000308378.3 - 5 926 c.621T>C c.(619-621)ctT>ctC p.L207L WDR49_ENST00000476376.1_Silent_p.L32L|WDR49_ENST00000453925.2_Silent_p.L260L|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 207 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TGCCAGTCAAAAGCCGAGTCT 0.453000 25 150 0 0 1 0 0 EOGT 285203 broad.mit.edu 37 3 69027546 69027546 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:69027546T>C ENST00000383701.3 - 17 2117 c.1375A>G c.(1375-1377)Agg>Ggg p.R459G EOGT_ENST00000295571.5_Missense_Mutation_p.R375G|EOGT_ENST00000540764.1_Missense_Mutation_p.R358G|EOGT_ENST00000540955.1_Missense_Mutation_p.R183G NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase CCTCTCAGCCTGGCCAAGTCT 0.428000 24 100 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123658448 123658448 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:123658448A>G ENST00000369043.3 - 7 936 c.850T>C c.(850-852)Ttc>Ctc p.F284L ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.F277L|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.F188L|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_Intron NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 284 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) GACGACTTGAACTCTGGGTCC 0.438000 44 27 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 51 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530727 80530727 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:80530727C>T ENST00000295057.3 - 2 874 c.218G>A c.(217-219)cGc>cAc p.R73H CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R73H|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 73 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCTGTTGTAGCGCAGGGACAA 0.662000 HNSCC(69;0.2) 48 114 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17026494 17026494 + RNA SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:17026494C>G ENST00000492551.1 - 0 1191 NR_026567.1 CGTAGCCCGTCGTGGCCGTCG 0.726000 4 20 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209108167 209108167 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:209108167G>A ENST00000415913.1 - 6 1063 c.682C>T c.(682-684)Cag>Tag p.Q228* IDH1_ENST00000446179.1_Nonsense_Mutation_p.Q228*|IDH1_ENST00000345146.2_Nonsense_Mutation_p.Q228* NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 228 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TATATCTCCTGAAAGATGTCT 0.353000 Mis gliobastoma 25 39 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97844896 97844896 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:97844896G>A ENST00000375315.2 + 15 2359 c.2359G>A c.(2359-2361)Gag>Aag p.E787K C9orf3_ENST00000297979.5_Missense_Mutation_p.E688K|C9orf3_ENST00000433691.2_Missense_Mutation_p.E128K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E149K NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 787 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GATGGTGAGTGAGGACGCCAG 0.597000 32 51 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224564 3224564 + Silent SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:3224564G>T ENST00000602557.1 - 21 3663 c.3108C>A c.(3106-3108)atC>atA p.I1036I CSMD1_ENST00000537824.1_Silent_p.I1035I|CSMD1_ENST00000602723.1_Silent_p.I1036I|CSMD1_ENST00000400186.3_Silent_p.I1036I|CSMD1_ENST00000542608.1_Silent_p.I1035I|CSMD1_ENST00000539096.1_Silent_p.I1035I|CSMD1_ENST00000520002.1_Silent_p.I1036I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1036 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGAAAATGTGATATTGAAGC 0.453000 3 17 1 1 1 1 0 ZEB2 9839 broad.mit.edu 37 2 145154073 145154073 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:145154073G>C ENST00000558170.2 - 9 4157 c.2973C>G c.(2971-2973)atC>atG p.I991M ZEB2_ENST00000539609.3_Missense_Mutation_p.I967M|ZEB2_ENST00000409487.3_Missense_Mutation_p.I991M|ZEB2_ENST00000303660.4_Missense_Mutation_p.I991M NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 991 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTGTCTTCTTGATCTTTTTGC 0.443000 56 91 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95547204 95547204 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:95547204C>T ENST00000297591.5 - 5 422 c.347G>A c.(346-348)tGg>tAg p.W116* KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.W116*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.W116* NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 116 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ACAGTTATACCAGCCTCTTAG 0.448000 41 158 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224420909 224420909 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:224420909C>G ENST00000281701.6 - 21 2708 c.2449G>C c.(2449-2451)Gaa>Caa p.E817Q NVL_ENST00000361463.3_3'UTR|NVL_ENST00000340871.4_Missense_Mutation_p.E628Q|NVL_ENST00000469075.1_Missense_Mutation_p.E726Q|NVL_ENST00000482491.1_Missense_Mutation_p.E541Q|NVL_ENST00000391875.2_Missense_Mutation_p.E711Q NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 817 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity p.E817K(1) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) GTACCTTTTTCATTTCCACTC 0.383000 18 57 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47894824 47894824 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:47894824C>T ENST00000426837.2 - 20 6802 c.6715G>A c.(6715-6717)Gag>Aag p.E2239K MAP4_ENST00000360240.6_Missense_Mutation_p.E1094K|MAP4_ENST00000383737.4_Missense_Mutation_p.E753K|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.E829K|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000395734.3_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 1094 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) AGAGGAGCCTCGCTGCCACCG 0.652000 5 8 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109398640 109398640 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:109398640A>G ENST00000283195.6 + 27 8943 c.8817A>G c.(8815-8817)aaA>aaG p.K2939K NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2939 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AGAGAGCCAAACTTTATAGAT 0.363000 17 28 0 0 1 0 0 AKAP5 9495 broad.mit.edu 37 14 64936344 64936344 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:64936344T>G ENST00000394718.4 + 2 1610 c.1232T>G c.(1231-1233)cTg>cGg p.L411R ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.L411R|ZBTB25_ENST00000555220.1_Intron NM_004857.3 NP_004848.3 P24588 AKAP5_HUMAN A kinase (PRKA) anchor protein 5 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1) 13 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) ATAGAACAGCTGGTTAATGAA 0.348000 19 84 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79295384 79295384 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:79295384C>T ENST00000264895.6 + 25 3570 c.3130C>T c.(3130-3132)Cat>Tat p.H1044Y FRAS1_ENST00000325942.6_Missense_Mutation_p.H1044Y NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1043 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTTTGCAGATCATGCAAAGCA 0.507000 28 111 0 0 1 0 0 PILRB 29990 broad.mit.edu 37 7 99954465 99954465 + Translation_Start_Site SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:99954465C>A ENST00000610247.1 + 0 2372 PILRB_ENST00000452089.1_De_novo_Start_OutOfFrame|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Nonsense_Mutation_p.S81*|PILRB_ENST00000444073.1_De_novo_Start_OutOfFrame Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGAGGCTGTCGTGGCAGTCC 0.587000 8 4 3.07112e-06 3.15424e-06 1 1 0 PDZRN3 23024 broad.mit.edu 37 3 73432821 73432821 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:73432821C>T ENST00000263666.4 - 10 3010 c.2896G>A c.(2896-2898)Gag>Aag p.E966K PDZRN3_ENST00000462146.2_Missense_Mutation_p.E623K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E623K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E688K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E683K NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 966 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ATCTTCATCTCGCTCACCGCG 0.667000 27 138 0 0 1 0 0 CNRIP1 25927 broad.mit.edu 37 2 68544244 68544244 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:68544244C>T ENST00000409862.1 - 3 556 c.375G>A c.(373-375)atG>atA p.M125I CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000263655.3_Intron|CNRIP1_ENST00000481714.1_Intron Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 0 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 CTGTGGTTTCCATTTTCCATG 0.463000 42 113 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86122380 86122380 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:86122380G>A ENST00000394518.2 + 7 1176 c.1081G>A c.(1081-1083)Gag>Aag p.E361K RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.E361K NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 361 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AAGCATAGTTGAGGAGGAGAA 0.493000 11 52 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99823966 99823966 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:99823966G>A ENST00000254759.3 - 5 603 c.579C>T c.(577-579)gtC>gtT p.V193V COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 193 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TCTTATCCAGGACTGGATCAA 0.443000 32 134 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63948074 63948074 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:63948074G>A ENST00000443617.2 - 50 10038 c.9951C>T c.(9949-9951)ctC>ctT p.L3317L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3317 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CAATTCCTCGGAGAAAGCTGG 0.443000 11 8 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131415421 131415421 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:131415421C>G ENST00000512055.1 - 9 2598 c.472G>C c.(472-474)Gag>Cag p.E158Q CPNE4_ENST00000511604.1_Missense_Mutation_p.E158Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.E176Q|CPNE4_ENST00000502818.1_Missense_Mutation_p.E176Q|CPNE4_ENST00000429747.1_Missense_Mutation_p.E158Q Q96A23 CPNE4_HUMAN copine IV 158 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AATGCAAGCTCAACATAGTCG 0.408000 60 51 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110830952 110830952 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:110830952T>C ENST00000485303.1 + 2 511 c.236T>C c.(235-237)tTa>tCa p.L79S PVRL3_ENST00000493615.1_Missense_Mutation_p.L56S|PVRL3_ENST00000319792.3_Missense_Mutation_p.L79S|PVRL3_ENST00000488016.1_3'UTR NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 79 Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TTAAAGTGTTTAATTGAAGTA 0.388000 9 43 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119183625 119183625 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:119183625C>G ENST00000392814.1 - 1 1170 c.441G>C c.(439-441)tcG>tcC p.S147S MCAM_ENST00000264036.4_Silent_p.S198S P43121 MUC18_HUMAN melanoma cell adhesion molecule 198 Ig-like V-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) ACAAACCACTCGACTCCACAG 0.562000 18 94 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141033813 141033813 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:141033813G>A ENST00000239440.4 - 33 4404 c.4339C>T c.(4339-4341)Caa>Taa p.Q1447* ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q1278*|ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q1096*|ARAP3_ENST00000512390.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1447 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 AGAAAGGGTTGATCCAATGAC 0.602000 36 44 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47350217 47350217 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:47350217A>G ENST00000342922.4 + 32 4981 c.4624A>G c.(4624-4626)Att>Gtt p.I1542V MADD_ENST00000311027.5_Missense_Mutation_p.I1601V|MADD_ENST00000349238.3_Missense_Mutation_p.I1562V|MADD_ENST00000407859.3_Missense_Mutation_p.I1519V|MADD_ENST00000395336.3_Silent_p.K1577K|MADD_ENST00000402799.1_Missense_Mutation_p.I1499V|MADD_ENST00000402192.2_Missense_Mutation_p.I1541V|MADD_ENST00000406482.1_Silent_p.K1475K|MADD_ENST00000395344.3_Missense_Mutation_p.I1495V NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1601 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) AGTTCCTGAAATTAAAGAAGT 0.577000 13 43 0 0 1 0 0 SYDE2 84144 broad.mit.edu 37 1 85624533 85624533 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:85624533T>A ENST00000341460.5 - 7 3534 c.3485A>T c.(3484-3486)gAt>gTt p.D1162V NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 1162 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) GTTTTTTCGATCCACTGTAGA 0.363000 5 9 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64643839 64643839 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:64643839G>A ENST00000371079.1 + 9 2490 c.2115G>A c.(2113-2115)gtG>gtA p.V705V ROR1_ENST00000545203.1_Silent_p.V156V NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 705 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TTGAGATGGTGAGAAAACGGC 0.458000 23 58 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64084988 64084988 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:64084988C>T ENST00000295902.6 - 8 2859 c.2274G>A c.(2272-2274)caG>caA p.Q758Q PRICKLE2_ENST00000564377.1_Silent_p.Q814Q|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 758 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CAAAGGCATTCTGCAAAGCCA 0.587000 10 41 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 122991412 122991412 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:122991412T>C ENST00000331738.7 - 9 1239 c.1094A>G c.(1093-1095)aAt>aGt p.N365S RSRC2_ENST00000354654.2_Missense_Mutation_p.N317S|RSRC2_ENST00000392442.2_5'UTR NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 365 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) AAATTTGACATTTTGGTCCTT 0.343000 34 51 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21205466 21205466 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:21205466G>T ENST00000342679.4 + 6 660 c.411G>T c.(409-411)tgG>tgT p.W137C MAP2K3_ENST00000316920.6_Missense_Mutation_p.W108C|MAP2K3_ENST00000361818.5_Missense_Mutation_p.W108C NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 137 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GAGACGTGTGGATCTGCATGG 0.597000 15 77 1.96292e-10 2.04518e-10 1 1 0 PCDH8 5100 broad.mit.edu 37 13 53418738 53418738 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:53418738C>A ENST00000377942.3 - 3 3373 c.3170G>T c.(3169-3171)gGc>gTc p.G1057V PCDH8_ENST00000338862.4_Missense_Mutation_p.G960V NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 1057 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGGTACCTGCCAGGAGGGGA 0.547000 38 39 3.09479e-21 3.31551e-21 1 1 0 FREM1 158326 broad.mit.edu 37 9 14740152 14740152 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:14740152C>G ENST00000380881.4 - 37 7153 c.6338G>C c.(6337-6339)tGg>tCg p.W2113S FREM1_ENST00000380880.3_Missense_Mutation_p.W2112S|FREM1_ENST00000422223.2_Missense_Mutation_p.W2112S|FREM1_ENST00000380894.1_Missense_Mutation_p.W648S Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2112 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTTGCCTATCCAAAAGGACTT 0.498000 31 170 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31632937 31632937 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:31632937C>A ENST00000389082.5 - 3 754 c.490G>T c.(490-492)Gaa>Taa p.E164* DENND5B_ENST00000536562.1_Nonsense_Mutation_p.E199*|DENND5B_ENST00000354285.4_Nonsense_Mutation_p.E186*|DENND5B_ENST00000306833.6_Nonsense_Mutation_p.E199*|DENND5B_ENST00000545147.1_Intron NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 164 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GTATCTCCTTCATCAAGACTA 0.423000 40 79 1.76056e-25 1.89457e-25 1 1 0 ZYX 7791 broad.mit.edu 37 7 143079495 143079495 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:143079495G>A ENST00000322764.5 + 3 708 c.363G>A c.(361-363)ccG>ccA p.P121P ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000449423.2_Silent_p.P65P NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 121 Pro-rich. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) CGCCTCCTCCGGAGGAGGAGG 0.697000 14 17 0 0 1 0 0 FAM120AOS 158293 broad.mit.edu 37 9 96212868 96212868 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:96212868C>A ENST00000375412.5 - 2 1459 c.577G>T c.(577-579)Gga>Tga p.G193* FAM120AOS_ENST00000423591.1_Nonsense_Mutation_p.G11*|FAM120AOS_ENST00000479094.1_5'UTR NM_198841.2 NP_942138.2 Q5T036 F120S_HUMAN family with sequence similarity 120A opposite strand 193 kidney(1)|large_intestine(1)|lung(3)|skin(1) 6 CATCCTGCTCCTCTACAGAGG 0.493000 8 27 0.000274275 0.000279311 1 1 0 STX8 9482 broad.mit.edu 37 17 9153949 9153949 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:9153949C>T ENST00000306357.4 - 8 1084 c.657G>A c.(655-657)gtG>gtA p.V219V STX8_ENST00000574431.1_Silent_p.V108V NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 GCAGTAAAATCACCATGATCA 0.463000 7 14 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10138051 10138051 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:10138051C>G ENST00000287647.3 + 42 4173 c.4080C>G c.(4078-4080)ctC>ctG p.L1360L FANCD2_ENST00000383807.1_Silent_p.L1360L|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000419585.1_Silent_p.L1360L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1360 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGCCTCTGCTCAAAAAGACCC 0.423000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 48 58 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133721430 133721430 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:133721430C>T ENST00000409261.1 - 8 815 c.442G>A c.(442-444)Gag>Aag p.E148K NCKAP5_ENST00000405974.3_Missense_Mutation_p.E148K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E148K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E148K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 148 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTCTCTTCCTCTGACAGCTTT 0.403000 14 83 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48229178 48229178 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:48229178C>T ENST00000263277.3 + 4 863 c.612C>T c.(610-612)atC>atT p.I204I CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Silent_p.I68I NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 204 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CAGAGGCCATCGGCGCGTTGC 0.637000 19 32 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724323 49724323 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:49724323G>T ENST00000551245.1 + 13 1806 c.1695G>T c.(1693-1695)gaG>gaT p.E565D TROAP_ENST00000257909.3_Missense_Mutation_p.E565D|TROAP_ENST00000547923.1_Missense_Mutation_p.E273D Q12815 TROAP_HUMAN trophinin associated protein 565 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 GTGAGCCTGAGATACCGGAGT 0.592000 15 56 4.14922e-12 4.36091e-12 1 1 0 SF3B3 23450 broad.mit.edu 37 16 70602260 70602260 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:70602260C>A ENST00000302516.5 + 22 3238 c.3027C>A c.(3025-3027)ttC>ttA p.F1009L NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 1009 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) AAGAAAGTTTCATCTGGGTTC 0.433000 40 51 1.96642e-18 2.09732e-18 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129687428 129687428 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:129687428G>C ENST00000421865.2 + 33 4831 c.4782G>C c.(4780-4782)atG>atC p.M1594I NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1594 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGATGGTCATGAGCATCAACC 0.488000 28 82 0 0 1 0 0 THOP1 7064 broad.mit.edu 37 19 2808407 2808407 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:2808407G>C ENST00000307741.6 + 9 1623 c.1420G>C c.(1420-1422)Gag>Cag p.E474Q THOP1_ENST00000586677.1_Missense_Mutation_p.E353Q|THOP1_ENST00000591149.1_3'UTR NM_003249.3 NP_003240.1 P52888 THOP1_HUMAN thimet oligopeptidase 1 474 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 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) CTACTTCCATGAGTTTGGCCA 0.692000 7 39 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384936 133384936 + Nonsense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:133384936G>C ENST00000204726.3 - 5 1277 c.719C>G c.(718-720)tCa>tGa p.S240* GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.S240*|GOLGA3_ENST00000537452.1_Nonsense_Mutation_p.S240*|GOLGA3_ENST00000450791.2_Nonsense_Mutation_p.S240*|GOLGA3_ENST00000545875.1_Nonsense_Mutation_p.S240* NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 240 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GATTTTGCTTGATTTGGAAGT 0.532000 89 126 0 0 1 0 0 MICU2 221154 broad.mit.edu 37 13 22178097 22178097 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:22178097C>G ENST00000382374.4 - 1 256 c.191G>C c.(190-192)aGt>aCt p.S64T NM_152726.2 NP_689939.1 mitochondrial calcium uptake 2 GACTGTAAAACTGCCATCCCG 0.672000 18 98 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11832850 11832850 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:11832850T>G ENST00000341191.6 - 4 1652 c.1499A>C c.(1498-1500)gAg>gCg p.E500A ZNF823_ENST00000545749.1_Missense_Mutation_p.E318A NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 TGTTTTACACTCATAAGGTTT 0.378000 HNSCC(68;0.2) 22 28 0 0 1 0 0 PPIB 5479 broad.mit.edu 37 15 64455081 64455081 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:64455081C>T ENST00000300026.3 - 1 323 c.105G>A c.(103-105)gaG>gaA p.E35E PPIB_ENST00000558492.1_5'UTR NM_000942.4 NP_000933.1 P23284 PPIB_HUMAN peptidylprolyl isomerase B (cyclophilin B) 35 protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding kidney(2)|large_intestine(2)|lung(6) 10 L-Proline(DB00172) CCTTCTTCTTCTCATCGGCCG 0.667000 8 23 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091492 74091492 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:74091492C>G ENST00000443185.2 - 4 2895 c.2578G>C c.(2578-2580)Gcc>Ccc p.A860P ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 860 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) ATGCTAGCGGCTTTTGTGACC 0.617000 22 140 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974630 29974630 + RNA SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:29974630G>T ENST00000376797.3 - 0 1346 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GGGCCGCGGGGAGCCCAGCTT 0.697000 11 18 0.00010058 0.000102863 1 1 0 ARFIP1 27236 broad.mit.edu 37 4 153831239 153831239 + Silent SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:153831239G>T ENST00000451320.2 + 9 1154 c.990G>T c.(988-990)ctG>ctT p.L330L ARFIP1_ENST00000405727.2_Silent_p.L298L|ARFIP1_ENST00000356064.3_Silent_p.L298L|ARFIP1_ENST00000353617.2_Silent_p.L330L|ARFIP1_ENST00000429148.2_Silent_p.L150L P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 330 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) ACAATCAGCTGGTCCTTTTCC 0.403000 68 104 1.4051e-37 1.52572e-37 1 1 0 SCRN3 79634 broad.mit.edu 37 2 175263091 175263091 + Nonsense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:175263091C>G ENST00000272732.6 + 2 162 c.80C>G c.(79-81)tCa>tGa p.S27* SCRN3_ENST00000409673.3_Intron NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 27 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) GGAAAAAATTCAGATAGACTC 0.343000 18 96 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3290311 3290311 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:3290311C>T ENST00000541430.2 + 11 1189 c.1153C>T c.(1153-1155)Cgg>Tgg p.R385W CELF5_ENST00000292672.2_Silent_p.F423F NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 0 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TCCTACCCTTCGGCAATATCA 0.577000 25 93 0 0 1 0 0 XAF1 54739 broad.mit.edu 37 17 6659401 6659401 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:6659401G>A ENST00000361842.3 + 1 243 c.4G>A c.(4-6)Gaa>Aaa p.E2K XAF1_ENST00000438512.1_Missense_Mutation_p.E2K|XAF1_ENST00000441631.1_Missense_Mutation_p.E2K|XAF1_ENST00000576459.1_3'UTR|XAF1_ENST00000346752.4_Missense_Mutation_p.E2K NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 2 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 GCAGAACATGGAAGGAGACTT 0.537000 86 43 0 0 1 0 0 BHLHE22 27319 broad.mit.edu 37 8 65494338 65494338 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:65494338G>A ENST00000321870.1 + 1 1525 c.991G>A c.(991-993)Gct>Act p.A331T RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 331 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 AGCGGCAGCAGCTGCTGCCCT 0.741000 4 5 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57015563 57015563 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:57015563G>A ENST00000370706.4 + 11 2899 c.2655G>A c.(2653-2655)atG>atA p.M885I RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.M885I|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 885 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGCGAACCATGACTCATATAG 0.363000 29 78 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130878029 130878029 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:130878029G>C ENST00000357462.5 - 1 153 c.60C>G c.(58-60)ctC>ctG p.L20L POTEF_ENST00000361163.4_Silent_p.L20L|POTEF_ENST00000360967.5_Silent_p.L20L|POTEF_ENST00000409914.2_Silent_p.L20L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 20 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TCTTGCTCCTGAGACCAAATG 0.557000 23 146 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69561007 69561007 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:69561007G>C ENST00000261858.2 + 5 1506 c.1278G>C c.(1276-1278)gtG>gtC p.V426V GLCE_ENST00000559420.2_Silent_p.V362V|GLCE_ENST00000559500.1_3'UTR NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 426 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 CAATTATGGTGACCCGTAAGT 0.488000 29 48 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150023160 150023160 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:150023160G>A ENST00000543571.1 - 2 650 c.103C>T c.(103-105)Cgg>Tgg p.R35W LATS1_ENST00000392273.3_Missense_Mutation_p.R35W|LATS1_ENST00000253339.5_Missense_Mutation_p.R35W NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 35 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGGGATTCCCGAATTTCTTGT 0.423000 16 79 0 0 1 0 0 RRAGC 64121 broad.mit.edu 37 1 39325198 39325200 + In_Frame_Del DEL CCG CCG - rs113599946 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:39325198_39325200delCCG ENST00000373001.3 - 1 295_297 c.119_121delCGG c.(118-123)gcgggc>ggc p.A40del NM_022157.2 NP_071440.1 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 40 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) acccctccgcccgccgccgccgc 0.714 2 4 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)cagdel p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 8 273 --- --- --- --- FOSL2 2355 broad.mit.edu 37 2 28635076 28635076 + Frame_Shift_Del DEL C C - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:28635076delC ENST00000264716.4 + 4 1605 c.742delC c.(742-744)cccfs p.P248fs FOSL2_ENST00000379619.1_Frame_Shift_Del_p.P240fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.P209fs NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 248 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) TGTCATCAAGCCCATCAGCAT 0.652 22 65 --- --- --- --- CHPF 79586 broad.mit.edu 37 2 220406623 220406638 + Frame_Shift_Del DEL GGTGTCAGGCACCAGG GGTGTCAGGCACCAGG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:220406623_220406638delGGTGTCAGGCACCAGG ENST00000243776.6 - 2 836_851 c.588_603delCCTGGTGCCTGACACC c.(586-603)ttcctggtgcctgacaccfs p.FLVPDT196fs CHPF_ENST00000535926.1_Frame_Shift_Del_p.FLVPDT34fs|CHPF_ENST00000373891.2_Frame_Shift_Del_p.FLVPDT196fs NM_024536.5 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 196 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding p.P199P(1) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CGGTGTAGGTGGTGTCAGGCACCAGGAAGAACCAGT 0.681 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 2 4 --- --- --- --- RP11-379F4.4 0 broad.mit.edu 37 3 158481390 158481390 + RNA DEL G G - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:158481390delG ENST00000468242.1 + 0 431 RP11-379F4.4_ENST00000465477.1_RNA CAGTGGCCCTGGCAGCAAATC 0.443 2 4 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccgtcgccc>ccc p.28_30PSP>P PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000378555.3_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 6 2 --- --- --- --- SYNPO2L 79933 broad.mit.edu 37 10 75406489 75406493 + Frame_Shift_Del DEL GCCCC GCCCC - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:75406489_75406493delGCCCC ENST00000394810.2 - 4 3066_3070 c.2917_2921delGGGGC c.(2917-2922)ggggcafs p.GA973fs SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.GA749fs NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 973 cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CTGGTGCCCTGCCCCAGGCCTCCAC 0.595 35 169 --- --- --- --- ARHGAP20 57569 broad.mit.edu 37 11 110582896 110582897 + Frame_Shift_Ins INS - - A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:110582896_110582897insA ENST00000260283.4 - 2 342_343 c.58_59insT c.(58-60)tccfs p.S20fs ARHGAP20_ENST00000533353.1_Intron|ARHGAP20_ENST00000527598.1_Intron|ARHGAP20_ENST00000528829.1_Intron NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 20 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TCCTGTCAGGGAAGAGGAGCGC 0.658 19 34 --- --- --- --- KLRD1 3824 broad.mit.edu 37 12 10464092 10464100 + In_Frame_Del DEL TGGGTTGGG TGGGTTGGG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:10464092_10464100delTGGGTTGGG ENST00000381908.3 + 4 453_461 c.193_201delTGGGTTGGG c.(193-201)tgggttgggdel p.WVG65del KLRD1_ENST00000336164.4_In_Frame_Del_p.WVG65del|KLRD1_ENST00000543420.1_In_Frame_Del_p.WVG65del|KLRD1_ENST00000350274.5_In_Frame_Del_p.WVG34del|KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000381907.4_In_Frame_Del_p.WVG65del|KLRD1_ENST00000543777.1_In_Frame_Del_p.WVG44del Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, member 1 65 cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10 CCAAGAAAAATGGGTTGGGTACCGGTGCA 0.402 15 101 --- --- --- --- CAND1 55832 broad.mit.edu 37 12 67696105 67696119 + In_Frame_Del DEL AGTGATGATGAATAC AGTGATGATGAATAC - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:67696105_67696119delAGTGATGATGAATAC ENST00000545606.1 + 8 1440_1454 c.1003_1017delAGTGATGATGAATAC c.(1003-1017)agtgatgatgaatacdel p.SDDEY335del NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 335 Asp-rich. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ACCCTTAGGGAGTGATGATGAATACAGTGATGATG 0.358 10 179 --- --- --- --- SLC9A7P1 121456 broad.mit.edu 37 12 98850758 98850758 + RNA DEL C C - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:98850758delC ENST00000554295.1 - 0 165 NR_033801.1 TCGACCGCCGCCCCAGAGGAG 0.687 2 4 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48937042 48937043 + Frame_Shift_Ins INS - - A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:48937042_48937043insA ENST00000267163.4 + 8 948_949 c.810_811insA c.(811-813)acafs p.T271fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 271 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.L267fs*3(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAGAAAATGATACAAGAATTAT 0.342 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 40 49 --- --- --- --- IPO5 3843 broad.mit.edu 37 13 98652878 98652880 + In_Frame_Del DEL ATT ATT - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:98652878_98652880delATT ENST00000261574.5 + 13 1321_1323 c.1141_1143delATT c.(1141-1143)attdel p.I381del IPO5_ENST00000490680.1_In_Frame_Del_p.I363del|IPO5_ENST00000539640.1_In_Frame_Del_p.I238del NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 363 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 CAAGGAACACATTATGCAAATGC 0.414 36 97 --- --- --- --- NIN 51199 broad.mit.edu 37 14 51237206 51237208 + In_Frame_Del DEL AGG AGG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:51237206_51237208delAGG ENST00000245441.5 - 12 1522_1524 c.1332_1334delCCT c.(1330-1335)atcctg>atg p.444_445IL>M NIN_ENST00000382043.4_In_Frame_Del_p.444_445IL>M|NIN_ENST00000324330.9_In_Frame_Del_p.444_445IL>M|NIN_ENST00000530997.2_In_Frame_Del_p.444_445IL>M|NIN_ENST00000382041.3_In_Frame_Del_p.444_445IL>M|NIN_ENST00000453196.1_In_Frame_Del_p.444_445IL>M|NIN_ENST00000389868.3_In_Frame_Del_p.444_445IL>M NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 444 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TGCCTGCTGCAGGATCTGCTCTC 0.448 T PDGFRB MPD 14 55 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994974 29994988 + Splice_Site DEL ACCGCCTCCCTGGTG ACCGCCTCCCTGGTG - rs61737875 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:29994974_29994988delACCGCCTCCCTGGTG ENST00000308893.4 + 13 2454_2465 c.1411_1422delACCGCCTCCCTGGTG c.(1411-1422)accgcctccctgdel p.TASL471del TAOK2_ENST00000543033.1_Splice_Site_p.TASL471del|TAOK2_ENST00000416441.2_Splice_Site_p.TASL298del|TAOK2_ENST00000279394.3_Splice_Site_p.TASL471del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 471 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CACCATCCGAACCGCCTCCCTGGTGAGTGTAGCCA 0.577 44 396 --- --- --- --- FOXC2 2303 broad.mit.edu 37 16 86601790 86601790 + Frame_Shift_Del DEL G G - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:86601790delG ENST00000320354.4 + 1 934 c.849delG c.(847-849)ccgfs p.P283fs NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 283 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 CGTCGCCGCCGGGCGGAGAGC 0.786 Late-onset Hereditary Lymphedema 2 4 --- --- --- --- ENGASE 64772 broad.mit.edu 37 17 77082023 77082040 + In_Frame_Del DEL CGCTGCCAGCCTGCTGGC CGCTGCCAGCCTGCTGGC - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:77082023_77082040delCGCTGCCAGCCTGCTGGC ENST00000579016.1 + 14 1824_1841 c.1824_1841delCGCTGCCAGCCTGCTGGC c.(1822-1842)gacgctgccagcctgctggcc>gac p.AASLLA609del NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 609 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 AGGTGGTGGACGCTGCCAGCCTGCTGGCCCCTCTGCCC 0.706 42 73 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47800628 47800639 + In_Frame_Del DEL GTCGCAGCAGAA GTCGCAGCAGAA - rs115570375 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:47800628_47800639delGTCGCAGCAGAA ENST00000591416.1 - 11 1494_1505 c.1063_1074delTTCTGCTGCGAC c.(1063-1074)ttctgctgcgacdel p.FCCD355del MBD1_ENST00000398493.1_Intron|MBD1_ENST00000382948.5_In_Frame_Del_p.FCCD355del|MBD1_ENST00000590208.1_In_Frame_Del_p.FCCD355del|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000436910.1_In_Frame_Del_p.FCCD332del|MBD1_ENST00000424334.2_In_Frame_Del_p.FCCD406del|MBD1_ENST00000588937.1_In_Frame_Del_p.FCCD332del|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000457839.2_In_Frame_Del_p.FCCD380del|MBD1_ENST00000585595.1_In_Frame_Del_p.FCCD380del|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000339998.6_In_Frame_Del_p.FCCD355del|MBD1_ENST00000269471.5_In_Frame_Del_p.FCCD332del|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000353909.3_In_Frame_Del_p.FCCD306del|MBD1_ENST00000269468.5_In_Frame_Del_p.FCCD355del|MBD1_ENST00000585672.1_In_Frame_Del_p.FCCD305del|MBD1_ENST00000591535.1_In_Frame_Del_p.FCCD332del Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 355 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 ATTTGGGCTTGTCGCAGCAGAAGTCGCAGCGG 0.651 10 124 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578865 154578865 + RNA DEL G G - rs150846040 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:154578865delG ENST00000412436.1 - 0 98 RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA TTTTCTCTCTGTTTTTTTTTT 0.418 2 4 --- --- --- ---