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 KIF20B 9585 broad.mit.edu 37 10 91528104 91528104 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr10:91528104C>T ENST00000416354.1 + 30 5209 c.5137C>T c.(5137-5139)Cct>Tct p.P1713S KIF20B_ENST00000371728.3_Missense_Mutation_p.P1683S|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.P1643S Q96Q89 KI20B_HUMAN kinesin family member 20B 1683 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TTTGAAATTTCCTATTTCAGA 0.299000 21 61 0 0 0.000375601 0 0 RFX7 64864 broad.mit.edu 37 15 56390309 56390309 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:56390309G>A ENST00000423270.1 - 8 1076 c.1077C>T c.(1075-1077)atC>atT p.I359I RFX7_ENST00000317318.6_Silent_p.I359I|RFX7_ENST00000422057.1_Silent_p.I262I|RFX7_ENST00000559447.2_Silent_p.I262I NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 262 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTGCCACAACGATACCAATAG 0.403000 9 30 0 0 0.000673444 0 0 ZFP42 132625 broad.mit.edu 37 4 188924786 188924786 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:188924786C>T ENST00000326866.4 + 4 1233 c.825C>T c.(823-825)ttC>ttT p.F275F ZFP42_ENST00000509524.1_Silent_p.F275F NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 275 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) AGAAACGTTTCGTGTGTCCCT 0.488000 32 33 0 0 0.000339439 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963798 73963798 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chrX:73963798C>T ENST00000373468.1 - 3 1245 c.594G>A c.(592-594)caG>caA p.Q198Q KIAA2022_ENST00000055682.5_Silent_p.Q198Q Q5QGS0 K2022_HUMAN KIAA2022 198 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTGAGAGCAGCTGCTCTCCAT 0.458000 12 14 0 0 0.000978159 0 0 SMAD4 4089 broad.mit.edu 37 18 48575077 48575077 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr18:48575077C>T ENST00000342988.3 + 3 809 c.271C>T c.(271-273)Cct>Tct p.P91S SMAD4_ENST00000398417.2_Missense_Mutation_p.P91S|SMAD4_ENST00000452201.2_Missense_Mutation_p.P91S|SMAD4_ENST00000588745.1_Missense_Mutation_p.P91S|RP11-729L2.2_ENST00000590722.2_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 91 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GAAAGGATTTCCTCATGTGAT 0.358000 13 17 0 0 0.00185496 0 0 OR14J1 442191 broad.mit.edu 37 6 29275146 29275146 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr6:29275146C>T ENST00000377160.2 + 1 744 c.680C>T c.(679-681)cCa>cTa p.P227L NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 CTGAGAATCCCATCAGCTGAG 0.493000 58 36 0 0 0.000781405 0 0 MKI67 4288 broad.mit.edu 37 10 129906068 129906068 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr10:129906068G>A ENST00000368654.3 - 13 4411 c.4036C>T c.(4036-4038)Ctg>Ttg p.L1346L MKI67_ENST00000368653.3_Silent_p.L986L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1346 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AAGCCAGTCAGGTCTTCCAGA 0.522000 25 86 0 0 0.000586117 0 0 NCAN 1463 broad.mit.edu 37 19 19338872 19338872 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr19:19338872G>A ENST00000252575.5 + 8 2486 c.2443G>A c.(2443-2445)Gag>Aag p.E815K NCAN_ENST00000538881.1_Missense_Mutation_p.E266K NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 815 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCCAAATTTGGAGCCTTGGGT 0.567000 14 15 0 0 0.000219431 0 0 NSA2 10412 broad.mit.edu 37 5 74066456 74066456 + Splice_Site SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:74066456G>A ENST00000296802.5 + 4 712 c.342_splice c.e4-1 p.G115_splice NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 115 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 ATATTTTTAGGGAAAATGGGA 0.328000 13 46 0 0 0.000566183 0 0 NRXN1 9378 broad.mit.edu 37 2 50699451 50699451 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:50699451C>T ENST00000404971.1 - 17 4688 c.3349G>A c.(3349-3351)Gag>Aag p.E1117K NRXN1_ENST00000401710.1_Missense_Mutation_p.E86K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1069K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1077K|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1069K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1077K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1077K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1077 EGF-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CATCCTCTCTCGATCTGTCCG 0.433000 5 18 0 0 0.00116845 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41742066 41742066 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr22:41742066G>A ENST00000352645.4 + 14 1776 c.1519G>A c.(1519-1521)Gag>Aag p.E507K ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E507K NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 523 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTACCATCAGGAGGAGATCGA 0.607000 30 69 0 0 0.000491102 0 0 NXF1 10482 broad.mit.edu 37 11 62566040 62566040 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:62566040G>A ENST00000532297.1 - 12 1653 c.1024C>T c.(1024-1026)Cgc>Tgc p.R342C NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.R342C Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 342 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AATCGTTCGCGAATGGCGCTG 0.493000 25 41 0 0 0.00178596 0 0 HSPA1A 3303 broad.mit.edu 37 6 31785399 31785399 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr6:31785399C>T ENST00000375651.5 + 1 2109 c.1866C>T c.(1864-1866)ttC>ttT p.F622F HSPA1A_ENST00000458062.2_Silent_p.F531F NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 622 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 CTGGGGGCTTCGGGGCTCAGG 0.587000 191 162 0 0 0.000781405 0 0 FLNA 2316 broad.mit.edu 37 X 153594957 153594957 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chrX:153594957G>A ENST00000422373.1 - 7 1286 c.1038C>T c.(1036-1038)taC>taT p.Y346Y FLNA_ENST00000360319.4_Silent_p.Y346Y|FLNA_ENST00000344736.4_Silent_p.Y346Y|FLNA_ENST00000369850.3_Silent_p.Y346Y NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 346 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTCGGGGACGTACCAGACGG 0.622000 15 20 0 0 0.000422831 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37151058 37151058 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:37151058G>A ENST00000421307.1 - 12 991 c.569C>T c.(568-570)tCt>tTt p.S190F LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.S190F NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 190 DVL3-binding.|Ser-rich. Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TGCAGTAGGAGAGGCCTAAGA 0.433000 25 52 0 0 0.00106085 0 0 SRP19 6728 broad.mit.edu 37 5 112200167 112200167 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:112200167C>T ENST00000505459.1 + 3 286 c.131C>T c.(130-132)cCt>cTt p.P44L SRP19_ENST00000282999.3_Missense_Mutation_p.P44L|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000515463.1_Silent_p.L19L|SRP19_ENST00000512790.1_3'UTR NM_001204193.1|NM_003135.2 NP_001191122.1|NP_003126.1 P09132 SRP19_HUMAN signal recognition particle 19kDa 44 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) GTTGAAAATCCTACAGCTACA 0.338000 15 42 0 0 0.000308642 0 0 UBR2 23304 broad.mit.edu 37 6 42656026 42656026 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr6:42656026C>T ENST00000372901.1 + 45 5184 c.4926C>T c.(4924-4926)tcC>tcT p.S1642S UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Silent_p.S1642S Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1642 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TGCTGTGCTCCCAGAGTTACT 0.552000 62 48 0 0 0.000781405 0 0 FAM53C 51307 broad.mit.edu 37 5 137677062 137677062 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:137677062C>T ENST00000239906.5 + 2 466 c.38C>T c.(37-39)aCt>aTt p.T13I FAM53C_ENST00000513056.1_Missense_Mutation_p.T13I|FAM53C_ENST00000507506.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.T13I NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 13 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAGAAGCAGACTCTGGATGAG 0.488000 24 32 0 0 0.000586117 0 0 CD163L1 283316 broad.mit.edu 37 12 7585069 7585069 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr12:7585069G>A ENST00000313599.3 - 4 766 c.709C>T c.(709-711)Cgt>Tgt p.R237C CD163L1_ENST00000396630.1_Missense_Mutation_p.R237C|CD163L1_ENST00000416109.2_Missense_Mutation_p.R247C Q9NR16 C163B_HUMAN CD163 molecule-like 1 237 SRCR 2. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCCCATCCACGATGTCTGCAA 0.433000 17 36 0 0 0.000958276 0 0 TBRG4 9238 broad.mit.edu 37 7 45148639 45148639 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:45148639G>A ENST00000258770.3 - 2 319 c.198C>T c.(196-198)ccC>ccT p.P66P TBRG4_ENST00000395655.4_Silent_p.P66P|TBRG4_ENST00000494076.1_Silent_p.P66P|TBRG4_ENST00000361278.3_Silent_p.P66P|TBRG4_ENST00000471142.1_5'UTR NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 66 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 TCTCTATGTAGGGAGTAGATG 0.557000 18 50 0 0 0.00074312 0 0 SERPINI2 5276 broad.mit.edu 37 3 167159920 167159920 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:167159920C>T ENST00000476257.1 - 10 1493 c.1195G>A c.(1195-1197)Gga>Aga p.G399R SERPINI2_ENST00000264677.4_Missense_Mutation_p.G399R|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G399R|SERPINI2_ENST00000471111.1_Missense_Mutation_p.G399R O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 399 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 AAATCTCTTCCTTTTATCTCC 0.328000 6 21 0 0 0.000157383 0 0 SP140 11262 broad.mit.edu 37 2 231108475 231108475 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:231108475G>A ENST00000392045.3 + 5 634 c.520G>A c.(520-522)Gat>Aat p.D174N SP140_ENST00000350136.5_Missense_Mutation_p.D154N|SP140_ENST00000343805.6_Missense_Mutation_p.D174N|SP140_ENST00000417495.3_Missense_Mutation_p.D174N|SP140_ENST00000486687.2_Missense_Mutation_p.D174N|SP140_ENST00000420434.3_Missense_Mutation_p.D174N NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 174 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGAAATGGATGATATAGCAGT 0.473000 29 51 0 0 0.000814825 0 0 CHIA 27159 broad.mit.edu 37 1 111854906 111854906 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:111854906C>T ENST00000369740.1 + 4 253 c.150C>T c.(148-150)ctC>ctT p.L50L CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000343320.6_Silent_p.L50L|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_Intron NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 50 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) ACCCCTGCCTCTGTACCCACC 0.562000 11 36 0 0 0.000422831 0 0 MYNN 55892 broad.mit.edu 37 3 169497049 169497049 + Missense_Mutation SNP G G T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:169497049G>T ENST00000349841.5 + 3 1423 c.760G>T c.(760-762)Gtt>Ttt p.V254F RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.V254F|MYNN_ENST00000544106.1_Missense_Mutation_p.V254F|MYNN_ENST00000356716.4_Missense_Mutation_p.V254F NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TGTGCACACTGTTACAGTGAA 0.403000 8 26 6.5536e-12 6.13258e-11 0.000157383 1 0 PERP 64065 broad.mit.edu 37 6 138417518 138417518 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr6:138417518C>T ENST00000421351.3 - 2 498 c.328G>A c.(328-330)Gtg>Atg p.V110M NM_022121.4 NP_071404.2 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector 110 apoptosis|cell adhesion desmosome|Golgi apparatus|integral to membrane|nucleus breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1) 5 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) CCTCCAATCACTCTCAGGAAG 0.498000 8 19 0 0 0.000673444 0 0 TLL2 7093 broad.mit.edu 37 10 98170121 98170121 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr10:98170121C>T ENST00000357947.3 - 9 1384 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 387 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTACCTTTTCCCCTGGGGTG 0.522000 13 34 0 0 0.000308642 0 0 RFX7 64864 broad.mit.edu 37 15 56388259 56388259 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:56388259G>A ENST00000423270.1 - 9 1666 c.1667C>T c.(1666-1668)tCt>tTt p.S556F RFX7_ENST00000317318.6_Missense_Mutation_p.S556F|RFX7_ENST00000422057.1_Missense_Mutation_p.S459F|RFX7_ENST00000559447.2_Missense_Mutation_p.S459F NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 459 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AGCCTCATCAGAGTTCTCTTG 0.507000 5 13 0 0 0.000602214 0 0 FOS 2353 broad.mit.edu 37 14 75747272 75747272 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr14:75747272G>A ENST00000303562.4 + 3 612 c.403G>A c.(403-405)Gaa>Aaa p.E135K FOS_ENST00000555686.1_Missense_Mutation_p.E21K|FOS_ENST00000555242.1_Missense_Mutation_p.E135K|FOS_ENST00000555347.1_5'UTR|FOS_ENST00000535987.1_Intron NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 135 SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry). cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) GTTATCTCCAGAAGAAGAAGA 0.483000 6 9 0 0 0.00116845 0 0 FAM13A 10144 broad.mit.edu 37 4 89670943 89670943 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:89670943G>A ENST00000264344.5 - 16 2265 c.2058C>T c.(2056-2058)ttC>ttT p.F686F FAM13A_ENST00000395002.2_Silent_p.F360F|FAM13A_ENST00000508369.1_Silent_p.F360F|FAM13A_ENST00000511976.1_Silent_p.F272F|FAM13A_ENST00000513837.1_Silent_p.F332F|FAM13A_ENST00000503556.1_Silent_p.F346F NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 686 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TCTCTTCTTCGAATCTATCTT 0.473000 10 16 0 0 0.000442599 0 0 CHI3L1 1116 broad.mit.edu 37 1 203149641 203149641 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:203149641G>A ENST00000255409.3 - 8 976 c.851C>T c.(850-852)cCa>cTa p.P284L NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 284 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 GAACCGGCCTGGAATTCCCGG 0.592000 18 29 0 0 0.00121646 0 0 PROL1 58503 broad.mit.edu 37 4 71275679 71275679 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:71275679C>T ENST00000399575.2 + 3 808 c.634C>T c.(634-636)Cct>Tct p.P212S NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 212 Thr-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CGCCAACCGTCCTCACACAGT 0.453000 21 48 0 0 0.00152264 0 0 SALL3 27164 broad.mit.edu 37 18 76754643 76754643 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr18:76754643C>T ENST00000536229.3 + 1 2962 c.2253C>T c.(2251-2253)ggC>ggT p.G751G SALL3_ENST00000575389.2_Silent_p.G884G|SALL3_ENST00000537592.2_Silent_p.G884G Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 884 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGGCCGTGGGCGACCTGGAGA 0.701000 7 18 0 0 8.12818e-05 0 0 UBR2 23304 broad.mit.edu 37 6 42656027 42656027 + Nonsense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr6:42656027C>T ENST00000372901.1 + 45 5185 c.4927C>T c.(4927-4929)Cag>Tag p.Q1643* UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Nonsense_Mutation_p.Q1643* Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1643 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GCTGTGCTCCCAGAGTTACTG 0.552000 61 48 0 0 0.000781405 0 0 ADH6 130 broad.mit.edu 37 4 100137326 100137326 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:100137326G>A ENST00000394897.1 - 2 194 c.112C>T c.(112-114)Cgc>Tgc p.R38C ADH6_ENST00000237653.7_Missense_Mutation_p.R38C|ADH6_ENST00000394899.2_Missense_Mutation_p.R38C|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 38 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) ACCTTTATGCGAACTTCCTTT 0.393000 17 30 0 0 0.000566183 0 0 CHI3L1 1116 broad.mit.edu 37 1 203149767 203149767 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:203149767C>T ENST00000255409.3 - 8 850 c.725G>A c.(724-726)gGg>gAg p.G242E NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 242 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 CAACATGTACCCCACAGCATA 0.567000 4 14 0 0 0.00116845 0 0 BEGAIN 57596 broad.mit.edu 37 14 101012897 101012897 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr14:101012897C>T ENST00000443071.2 - 2 262 c.117G>A c.(115-117)ctG>ctA p.L39L BEGAIN_ENST00000355173.2_Silent_p.L39L|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000556751.1_5'UTR NM_001159531.1 NP_001153003.1 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 39 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCTCGATCTCCAGGTAGTGGC 0.697000 9 22 0 0 0.000978159 0 0 AMZ1 155185 broad.mit.edu 37 7 2740214 2740214 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:2740214C>T ENST00000312371.4 + 2 497 c.129C>T c.(127-129)ttC>ttT p.F43F AMZ1_ENST00000407112.1_Silent_p.F43F NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 43 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) AGCGGCTCTTCCTGGCCGAGG 0.672000 36 130 0 0 0.000509022 0 0 OR4D1 26689 broad.mit.edu 37 17 56232787 56232787 + Silent SNP G G A rs17222013 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:56232787G>A ENST00000268912.5 + 1 294 c.273G>A c.(271-273)acG>acA p.T91T NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 AGACCAAGACGATCTCCTACC 0.498000 50 59 0 0 0.000781405 0 0 KIAA0247 9766 broad.mit.edu 37 14 70171364 70171364 + Silent SNP A A T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr14:70171364A>T ENST00000342745.4 + 4 676 c.363A>T c.(361-363)atA>atT p.I121I NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 121 integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) CGCTGTCTATAGTGGCTTCTA 0.493000 9 25 0 0 0.000978159 0 0 SMU1 55234 broad.mit.edu 37 9 33062073 33062073 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr9:33062073G>A ENST00000397149.3 - 5 654 c.604C>T c.(604-606)Cct>Tct p.P202S SMU1_ENST00000536631.1_Missense_Mutation_p.P41S NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 202 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) AGTTGTGTAGGAAACTTTTCT 0.473000 12 14 0 0 0.000219431 0 0 COL11A1 1301 broad.mit.edu 37 1 103449711 103449711 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:103449711C>T ENST00000358392.2 - 31 2892 c.2575G>A c.(2575-2577)Gga>Aga p.G859R COL11A1_ENST00000370096.3_Missense_Mutation_p.G847R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G731R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G808R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 847 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTTGTCTTCCTGGATATCCT 0.269000 8 21 0 0 0.000673444 0 0 PTPRT 11122 broad.mit.edu 37 20 40827983 40827983 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr20:40827983C>T ENST00000373198.3 - 17 2689 c.2454G>A c.(2452-2454)agG>agA p.R818R PTPRT_ENST00000373201.1_Silent_p.R786R|PTPRT_ENST00000356100.2_Silent_p.R805R|PTPRT_ENST00000373190.1_Silent_p.R796R|PTPRT_ENST00000373184.1_Silent_p.R786R|PTPRT_ENST00000373187.1_Silent_p.R796R|PTPRT_ENST00000373193.3_Silent_p.R799R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 796 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCCCATCTCCCTCTGGGCTC 0.557000 94 78 0 0 0.000781405 0 0 ABCC8 6833 broad.mit.edu 37 11 17417462 17417462 + Missense_Mutation SNP G G A rs137852673 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:17417462G>A ENST00000302539.4 - 34 4263 c.4138C>T c.(4138-4140)Cgc>Tgc p.R1380C ABCC8_ENST00000389817.3_Missense_Mutation_p.R1379C NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1379 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTGCCGGTGCGGCCGCAGATC 0.607000 22 78 0 0 0.000720815 0 0 RGP1 9827 broad.mit.edu 37 9 35749242 35749242 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr9:35749242C>T ENST00000456972.2 + 1 40 c.40C>T c.(40-42)Ccg>Tcg p.P14S GBA2_ENST00000545786.1_Intron Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 0 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCGGGCGCTTCCGGCCGGAAG 0.781000 7 1 0 0 0.000274275 0 0 ZNF521 25925 broad.mit.edu 37 18 22806369 22806369 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr18:22806369G>A ENST00000361524.3 - 4 1661 c.1513C>T c.(1513-1515)Cct>Tct p.P505S ZNF521_ENST00000584787.1_Missense_Mutation_p.P285S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P505S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 505 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTAGCTGCAGGGTTTGCAAAT 0.443000 T PAX5 ALL 10 40 0 0 0.000673444 0 0 OR2A2 442361 broad.mit.edu 37 7 143807482 143807482 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:143807482G>A ENST00000408979.2 + 1 876 c.807G>A c.(805-807)caG>caA p.Q269Q NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GAGAGGAGCAGGAGAAAATGC 0.517000 55 89 0 0 0.000781405 0 0 OR1G1 8390 broad.mit.edu 37 17 3030350 3030350 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:3030350G>A ENST00000328890.2 - 1 525 c.496C>T c.(496-498)Ctg>Ttg p.L166L NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CAGAAGGACAGGCTGTTCATC 0.522000 21 51 0 0 0.00188189 0 0 TFE3 7030 broad.mit.edu 37 X 48887843 48887843 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chrX:48887843G>A ENST00000315869.7 - 10 1813 c.1554C>T c.(1552-1554)caC>caT p.H518H TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 518 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CCAGCCCCAGGTGGAAGGGGT 0.677000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 16 20 0 0 0.00074312 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 37 0 0 0.00024832 0 0 CBS 875 broad.mit.edu 37 21 44485500 44485500 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr21:44485500G>A ENST00000398165.3 - 7 922 c.663C>T c.(661-663)gaC>gaT p.D221D CBS_ENST00000398168.1_Silent_p.D221D|CBS_ENST00000352178.5_Silent_p.D221D|CBS_ENST00000544202.1_Silent_p.D133D|CBS_ENST00000398158.1_Silent_p.D221D|CBS_ENST00000359624.3_Silent_p.D221D NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 221 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) GCCTCACCTGGTCTAGGATGT 0.622000 48 135 0 0 0.000781405 0 0 GABBR2 9568 broad.mit.edu 37 9 101133789 101133789 + Nonsense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr9:101133789C>T ENST00000259455.2 - 12 2186 c.1727G>A c.(1726-1728)tGg>tAg p.W576* NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 576 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GTGGACTCTCCAGGTCTTTGC 0.473000 8 8 0 0 0.000673444 0 0 PPP1CB 5500 broad.mit.edu 37 2 28999833 28999833 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:28999833C>T ENST00000395366.2 + 2 441 c.169C>T c.(169-171)Ccg>Tcg p.P57S PPP1CB_ENST00000358506.2_Missense_Mutation_p.P57S|PPP1CB_ENST00000296122.6_Missense_Mutation_p.P57S NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 57 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) ATTGGAAGCACCGCTGAAAAT 0.383000 21 52 0 0 0.00188189 0 0 OR5D14 219436 broad.mit.edu 37 11 55563175 55563175 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:55563175C>T ENST00000335605.1 + 1 144 c.144C>T c.(142-144)atC>atT p.I48I NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TTGGGATGATCATAATAATCA 0.383000 17 44 0 0 0.00121646 0 0 EBF1 1879 broad.mit.edu 37 5 158158157 158158157 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:158158157C>T ENST00000313708.6 - 11 1327 c.1045G>A c.(1045-1047)Gaa>Aaa p.E349K EBF1_ENST00000517373.1_Missense_Mutation_p.E341K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.E318K NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 349 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGGTGGGTTCGTTGAGCGCT 0.448000 T HMGA2 lipoma 10 10 0 0 0.000673444 0 0 NSA2 10412 broad.mit.edu 37 5 74066457 74066457 + Splice_Site SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:74066457G>A ENST00000296802.5 + 4 713 c.342_splice c.e4-1 p.G115_splice NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 115 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 TATTTTTAGGGAAAATGGGAA 0.328000 12 47 0 0 0.000422831 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647356 121647356 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:121647356G>A ENST00000489711.1 + 15 1683 c.1295G>A c.(1294-1296)gGa>gAa p.G432E SLC15A2_ENST00000295605.2_Missense_Mutation_p.G401E|SLC15A2_ENST00000465060.1_3'UTR NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 432 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ACAGTGGTGGGAAATGAAAAC 0.443000 18 56 0 0 0.000958276 0 0 SLC26A1 10861 broad.mit.edu 37 4 985298 985298 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:985298G>A ENST00000361661.2 - 3 571 c.194C>T c.(193-195)cCg>cTg p.P65L SLC26A1_ENST00000398520.2_Missense_Mutation_p.P65L|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.P65L|IDUA_ENST00000453894.1_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 65 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTACTCCCGCGGGCGGTACTG 0.692000 7 20 0 0 0.000157383 0 0 KCNV2 169522 broad.mit.edu 37 9 2718332 2718332 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr9:2718332G>A ENST00000382082.3 + 1 831 c.593G>A c.(592-594)tGc>tAc p.C198Y NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 198 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) ACGCCACGCTGCTGCCGCATC 0.692000 5 3 0 0 0.000602214 0 0 DNAH11 8701 broad.mit.edu 37 7 21818633 21818633 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:21818633C>T ENST00000328843.6 + 58 9446 c.9415C>T c.(9415-9417)Cat>Tat p.H3139Y DNAH11_ENST00000409508.3_Missense_Mutation_p.H3132Y Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3139 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACTGAGAAATCATGATGCCGA 0.488000 Kartagener syndrome 8 11 0 0 0.000274275 0 0 MYH4 4622 broad.mit.edu 37 17 10358038 10358038 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:10358038G>A ENST00000255381.2 - 22 2635 c.2525C>T c.(2524-2526)cCc>cTc p.P842L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 842 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTGAGGAGGGGCTTGATCTT 0.448000 16 49 0 0 0.00121646 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747191 26747191 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr22:26747191C>T ENST00000529632.2 + 12 2777 c.2581C>T c.(2581-2583)Cgc>Tgc p.R861C SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R861C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R861C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R634C|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R58C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R634C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R861C NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 861 Sushi 4. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGGACGTCTCGCCTGCCCCA 0.532000 14 38 0 0 0.000308642 0 0 SLK 9748 broad.mit.edu 37 10 105778643 105778643 + Nonsense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr10:105778643C>T ENST00000369755.3 + 15 3654 c.3109C>T c.(3109-3111)Cag>Tag p.Q1037* SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1006*|SLK_ENST00000474260.1_3'UTR NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 1037 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCAAAGACATCAGCTACTTAA 0.363000 37 57 0 0 0.00128727 0 0 NDRG4 65009 broad.mit.edu 37 16 58543093 58543093 + Splice_Site SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr16:58543093G>A ENST00000394282.4 + 14 1376 c.969_splice c.e14+1 p.Q323_splice NDRG4_ENST00000570248.1_Splice_Site_p.Q271_splice|NDRG4_ENST00000258187.5_Splice_Site_p.Q303_splice|NDRG4_ENST00000566192.1_Splice_Site_p.Q271_splice|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000568640.1_Splice_Site_p.Q289_splice|NDRG4_ENST00000563799.1_Splice_Site_p.Q289_splice|NDRG4_ENST00000356752.4_Splice_Site_p.Q301_splice|NDRG4_ENST00000569923.1_Splice_Site_p.Q216_splice|NDRG4_ENST00000394279.2_Splice_Site_p.Q303_splice NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 271 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 AGGTCACACAGGTGAGACTTT 0.597000 19 36 0 0 0.00074312 0 0 UBASH3A 53347 broad.mit.edu 37 21 43864730 43864730 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr21:43864730G>A ENST00000319294.6 + 14 1856 c.1825G>A c.(1825-1827)Gat>Aat p.D609N UBASH3A_ENST00000291535.6_Missense_Mutation_p.D571N|UBASH3A_ENST00000398367.1_Intron NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 609 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GGAATGTGGGGATTTTGCCCA 0.567000 28 65 0 0 0.00106085 0 0 OR4C16 219428 broad.mit.edu 37 11 55339967 55339967 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:55339967G>A ENST00000314634.3 + 1 364 c.364G>A c.(364-366)Gtg>Atg p.V122M NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TGACCGCTATGTGGACATCTG 0.507000 38 88 0 0 0.00111076 0 0 PTH1R 5745 broad.mit.edu 37 3 46944049 46944049 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:46944049C>T ENST00000313049.5 + 12 1448 c.1245C>T c.(1243-1245)ccC>ccT p.P415P PTH1R_ENST00000430002.2_Silent_p.P415P|PTH1R_ENST00000418619.1_Silent_p.P415P|PTH1R_ENST00000449590.1_Silent_p.P415P Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 415 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 TGCTCATGCCCCTCTTTGGCG 0.577000 3 6 0 0 6.4e-05 0 0 XIRP2 129446 broad.mit.edu 37 2 168103476 168103476 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:168103476G>A ENST00000409195.1 + 9 5663 c.5574G>A c.(5572-5574)acG>acA p.T1858T XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T1636T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1858T NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1683 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAACAGTGACGAAAACAGAAG 0.383000 12 29 0 0 0.00185496 0 0 CNTN6 27255 broad.mit.edu 37 3 1262438 1262438 + Missense_Mutation SNP A A T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:1262438A>T ENST00000446702.2 + 3 750 c.123A>T c.(121-123)ttA>ttT p.L41F CNTN6_ENST00000350110.2_Missense_Mutation_p.L41F|CNTN6_ENST00000539053.1_5'UTR Q9UQ52 CNTN6_HUMAN contactin 6 41 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTTTGGATTTATCAAAATCTG 0.388000 23 54 0 0 0.000295444 0 0 TRPM3 80036 broad.mit.edu 37 9 73151678 73151678 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr9:73151678C>T ENST00000377110.2 - 25 4558 c.4315G>A c.(4315-4317)Gcc>Acc p.A1439T TRPM3_ENST00000358082.3_Missense_Mutation_p.A1301T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1298T|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1466T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1443T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1288T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1301T|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1298T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1311T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1298T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1311T NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1464 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTTGAAGGGGCTGTGGAAGGT 0.507000 17 17 0 0 0.00074312 0 0 DOCK11 139818 broad.mit.edu 37 X 117727237 117727237 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chrX:117727237C>T ENST00000276204.6 + 20 2274 c.2200C>T c.(2200-2202)Cat>Tat p.H734Y DOCK11_ENST00000276202.7_Missense_Mutation_p.H734Y Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 734 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CACTTTTTATCATGTAAGTTG 0.333000 28 18 0 0 0.000339439 0 0 SIM2 6493 broad.mit.edu 37 21 38114028 38114028 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr21:38114028G>A ENST00000290399.6 + 8 1474 c.861G>A c.(859-861)aaG>aaA p.K287K SIM2_ENST00000430056.3_Silent_p.K287K NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 287 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TGTTGGTGAAGGGCCAGGTCA 0.647000 5 19 0 0 8.12818e-05 0 0 RNF17 56163 broad.mit.edu 37 13 25363493 25363493 + Missense_Mutation SNP G G C TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr13:25363493G>C ENST00000255324.5 + 8 843 c.791G>C c.(790-792)cGg>cCg p.R264P RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.R265P|RNF17_ENST00000381921.1_Missense_Mutation_p.R264P NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 264 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TAGATTATCCGGACTTTGCAG 0.338000 50 102 0 0 0.000781405 0 0 AGTRAP 57085 broad.mit.edu 37 1 11807497 11807497 + Splice_Site SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:11807497G>A ENST00000314340.5 + 3 117 c.62_splice c.e3-1 p.W21_splice AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_Splice_Site_p.G54_splice|AGTRAP_ENST00000400895.2_Splice_Site_p.G54_splice|AGTRAP_ENST00000376627.2_Splice_Site_p.G66_splice|AGTRAP_ENST00000376629.4_Splice_Site_p.W21_splice|AGTRAP_ENST00000376637.3_Splice_Site_p.G10_splice NM_020350.4 NP_065083.3 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 21 cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) endometrium(1)|lung(3)|prostate(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCTACAGGGGCTGCATTG 0.627000 30 66 0 0 0.000953801 0 0 NT5C3B 115024 broad.mit.edu 37 17 39992141 39992141 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:39992141G>A ENST00000269534.8 - 2 158 c.57C>T c.(55-57)gcC>gcT p.A19A NT5C3B_ENST00000435506.2_Silent_p.A27A|NT5C3B_ENST00000521789.1_Intron NM_052935.4 NP_443167.4 5'-nucleotidase, cytosolic IIIB CCTTGCGGAGGGCGCCCACGA 0.711000 4 11 0 0 0.000602214 0 0 ALCAM 214 broad.mit.edu 37 3 105266008 105266008 + Nonsense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:105266008C>T ENST00000306107.5 + 10 1620 c.1120C>T c.(1120-1122)Cga>Tga p.R374* ALCAM_ENST00000472644.2_Nonsense_Mutation_p.R374*|ALCAM_ENST00000389927.4_Nonsense_Mutation_p.R96*|ALCAM_ENST00000486979.2_Nonsense_Mutation_p.R323* NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 374 Ig-like C2-type 2. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 CATCAGGCTTCGATCTAGCCC 0.353000 23 56 0 0 0.000586117 0 0 TTN 7273 broad.mit.edu 37 2 179489312 179489312 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:179489312C>T ENST00000589042.1 - 242 44919 c.44695G>A c.(44695-44697)Gaa>Aaa p.E14899K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12331K|TTN_ENST00000342175.6_Missense_Mutation_p.E6026K|TTN_ENST00000460472.2_Missense_Mutation_p.E5834K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5959K|TTN_ENST00000591111.1_Missense_Mutation_p.E13258K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13258 Fibronectin type-III 7. 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) GCAACAATTTCATACTTCTTG 0.408000 14 32 0 0 0.000308642 0 0 SLC9A3 6550 broad.mit.edu 37 5 475069 475069 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:475069G>A ENST00000264938.3 - 16 2439 c.2430C>T c.(2428-2430)tcC>tcT p.S810S CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.S801S NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 810 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGGAGTCCACGGACTTGCTGC 0.711000 4 19 0 0 0.000602214 0 0 OR9A4 130075 broad.mit.edu 37 7 141618751 141618751 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:141618751C>T ENST00000548136.1 + 1 135 c.76C>T c.(76-78)Ctt>Ttt p.L26F MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ACATCATATCCTTTTTGCTAT 0.393000 28 151 0 0 0.00178596 0 0 MFSD8 256471 broad.mit.edu 37 4 128870972 128870972 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:128870972G>A ENST00000296468.3 - 4 312 c.185C>T c.(184-186)cCa>cTa p.P62L MFSD8_ENST00000513559.1_Missense_Mutation_p.P17L|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Missense_Mutation_p.P17L NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 62 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TTGGAGATATGGCCATATGGA 0.308000 26 94 0 0 0.00128727 0 0 LCE1B 353132 broad.mit.edu 37 1 152784962 152784962 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:152784962C>T ENST00000360090.3 + 1 516 c.40C>T c.(40-42)Ccc>Tcc p.P14S NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 14 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAGCCccctcccaagtgcat 0.597000 29 32 0 0 0.000409698 0 0 PRPF40A 55660 broad.mit.edu 37 2 153572514 153572514 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:153572514C>T ENST00000410080.1 - 2 752 c.211G>A c.(211-213)Gga>Aga p.G71R PRPF40A_ENST00000486100.1_5'UTR NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 98 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 CTTACTTGTCCCATTGGTGGC 0.433000 26 84 0 0 0.001512 0 0 ITGA11 22801 broad.mit.edu 37 15 68624236 68624236 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:68624236G>A ENST00000423218.2 - 14 1826 c.1731C>T c.(1729-1731)ttC>ttT p.F577F ITGA11_ENST00000315757.7_Silent_p.F577F Q9UKX5 ITA11_HUMAN integrin, alpha 11 577 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GGAAGCCGTGGAAGATGTAGA 0.597000 4 12 0 0 0.00024832 0 0 ITGA6 3655 broad.mit.edu 37 2 173349959 173349959 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:173349959G>A ENST00000375221.2 + 14 2141 c.1938G>A c.(1936-1938)ctG>ctA p.L646L ITGA6_ENST00000343713.4_Silent_p.L602L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Silent_p.L607L|ITGA6_ENST00000409532.1_Silent_p.L488L|ITGA6_ENST00000409080.1_Silent_p.L607L|ITGA6_ENST00000264106.6_Silent_p.L646L P23229 ITA6_HUMAN integrin, alpha 6 646 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TTCCAATTCTGAATTCAGATG 0.408000 16 43 0 0 0.000958276 0 0 CSMD2 114784 broad.mit.edu 37 1 34254227 34254227 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:34254227G>A ENST00000373381.4 - 12 1813 c.1637C>T c.(1636-1638)tCc>tTc p.S546F CSMD2_ENST00000338325.1_Missense_Mutation_p.S154F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 506 Sushi 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAATCCCAGGGAACTGCCACT 0.517000 13 38 0 0 0.00185496 0 0 AZGP1 563 broad.mit.edu 37 7 99564802 99564802 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:99564802G>A ENST00000292401.4 - 4 857 c.721C>T c.(721-723)Cgg>Tgg p.R241W AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR NM_001185.3 NP_001176.1 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 241 Ig-like C1-type. antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCGCCGGCCCGAGTCCAGTGC 0.582000 8 15 0 0 0.000157383 0 0 CCDC158 339965 broad.mit.edu 37 4 77252515 77252515 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:77252515G>A ENST00000388914.3 - 20 3064 c.2912C>T c.(2911-2913)tCa>tTa p.S971L NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 971 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 AGTTTCACTTGATTTGCTTCC 0.368000 28 74 0 0 0.000339439 0 0 CACNA1E 777 broad.mit.edu 37 1 181701872 181701872 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:181701872C>T ENST00000526775.1 + 19 2758 c.2593C>T c.(2593-2595)Ctg>Ttg p.L865L CACNA1E_ENST00000367570.1_Silent_p.L884L|CACNA1E_ENST00000357570.5_Silent_p.L835L|CACNA1E_ENST00000360108.3_Silent_p.L865L|CACNA1E_ENST00000367567.4_Silent_p.L491L|CACNA1E_ENST00000358338.5_Silent_p.L816L|CACNA1E_ENST00000367573.2_Silent_p.L884L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 884 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCCACCATGGCTGGCCAGGCC 0.672000 22 32 0 0 0.000586117 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999112 27999112 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chrX:27999112C>T ENST00000441525.1 - 1 454 c.340G>A c.(340-342)Gaa>Aaa p.E114K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 114 Glu-rich. p.E114K(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GGCTGTtcttcctcctcccct 0.517000 11 10 0 0 0.000673444 0 0 LHFPL5 222662 broad.mit.edu 37 6 35782490 35782490 + Missense_Mutation SNP T T A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr6:35782490T>A ENST00000360215.1 + 2 957 c.580T>A c.(580-582)Ttc>Atc p.F194I LHFPL5_ENST00000373853.1_Missense_Mutation_p.F194I|LHFPL5_ENST00000496656.1_3'UTR NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 194 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 CATCCTCTCCTTCCTGGCCTT 0.612000 13 11 0 0 0.00185496 0 0 IGF1R 3480 broad.mit.edu 37 15 99500325 99500325 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:99500325C>T ENST00000268035.6 + 21 4369 c.3758C>T c.(3757-3759)cCc>cTc p.P1253L IGF1R_ENST00000558762.1_Missense_Mutation_p.P1252L|RP11-654A16.3_ENST00000559468.1_RNA NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1253 Protein kinase. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CAGTATAACCCCAAGATGAGG 0.572000 19 35 0 0 0.00188189 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439877 150439877 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:150439877C>T ENST00000358647.3 + 3 1017 c.650C>T c.(649-651)tCc>tTc p.S217F GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGAGAGGGCTCCTTCCACAGC 0.592000 23 43 0 0 0.000295444 0 0 NID2 22795 broad.mit.edu 37 14 52481052 52481052 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr14:52481052C>T ENST00000216286.5 - 16 3372 c.3373G>A c.(3373-3375)Ggc>Agc p.G1125S NID2_ENST00000541773.1_Missense_Mutation_p.G1024S NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1125 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AGCCTGGTGCCATTGAGGGGT 0.592000 OREG0022678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 56 0 0 0.00121646 0 0 C1orf87 127795 broad.mit.edu 37 1 60538226 60538226 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:60538226G>A ENST00000371201.3 - 2 197 c.90C>T c.(88-90)ctC>ctT p.L30L C1orf87_ENST00000450089.2_Silent_p.L30L NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 30 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GCTTCTCCACGAGGTATTGAA 0.368000 16 34 0 0 0.000422831 0 0 PCF11 51585 broad.mit.edu 37 11 82880148 82880148 + Nonsense_Mutation SNP C C G TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:82880148C>G ENST00000298281.4 + 8 3223 c.2771C>G c.(2770-2772)tCa>tGa p.S924* NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 924 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CATGGTCCATCAGGGGCTGCG 0.527000 34 17 0 0 0.000692331 0 0 BCL7A 605 broad.mit.edu 37 12 122473294 122473294 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr12:122473294C>T ENST00000538010.1 + 3 2902 c.232C>T c.(232-234)Ccg>Tcg p.P78S BCL7A_ENST00000261822.4_Missense_Mutation_p.P78S NM_020993.3 NP_066273.1 Q4VC05 BCL7A_HUMAN B-cell CLL/lymphoma 7A 78 negative regulation of transcription, DNA-dependent haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) GGTGACCACTCCGGAGAACAG 0.557000 T MYC BNHL 6 12 0 0 0.000157383 0 0 CACNA1E 777 broad.mit.edu 37 1 181701873 181701873 + Missense_Mutation SNP T T C TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:181701873T>C ENST00000526775.1 + 19 2759 c.2594T>C c.(2593-2595)cTg>cCg p.L865P CACNA1E_ENST00000367570.1_Missense_Mutation_p.L884P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L835P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L865P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L491P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L816P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L884P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 884 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCACCATGGCTGGCCAGGCCC 0.672000 22 31 0 0 0.000720815 0 0 PRSS1 5644 broad.mit.edu 37 7 142457353 142457353 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:142457353C>T ENST00000486171.1 + 1 35 c.18C>T c.(16-18)atC>atT p.I6I PRSS1_ENST00000311737.7_Silent_p.I6I P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 6 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CACTCCTGATCCTTACCTTTG 0.562000 24 47 0 0 0.00127121 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059079 79059079 + Silent SNP C C G TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:79059079C>G ENST00000388820.4 - 19 3384 c.3174G>C c.(3172-3174)gtG>gtC p.V1058V NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1058 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CGTCCACAAACACGGGCCCCG 0.612000 14 22 0 0 0.000422831 0 0 VSIG10 54621 broad.mit.edu 37 12 118519988 118519988 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr12:118519988G>A ENST00000359236.5 - 3 884 c.608C>T c.(607-609)gCc>gTc p.A203V NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 203 Ig-like C2-type 2. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 CTGATTCAAGGCTAAACAGGT 0.517000 12 24 0 0 0.00136819 0 0 HID1 283987 broad.mit.edu 37 17 72958362 72958362 + Missense_Mutation SNP G G A rs142613998 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:72958362G>A ENST00000425042.2 - 5 655 c.578C>T c.(577-579)tCc>tTc p.S193F NM_030630.2 NP_085133.1 HID1 domain containing AGGCTGGGGGGAGTGAGCGAA 0.657000 12 22 0 0 0.000308642 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120766 38120766 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr22:38120766C>T ENST00000406386.3 + 7 2458 c.2203C>T c.(2203-2205)Cgc>Tgc p.R735C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 735 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.R735C(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGCCTCCTCTCGCAACAGAAC 0.572000 10 27 0 0 0.000673444 0 0 UNC13C 440279 broad.mit.edu 37 15 54707217 54707217 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:54707217G>A ENST00000545554.1 + 18 4885 c.4885G>A c.(4885-4887)Gaa>Aaa p.E1629K UNC13C_ENST00000260323.11_Missense_Mutation_p.E1629K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1627K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1629 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATAAGTGCCGAAATTATGTG 0.308000 16 36 0 0 0.00121646 0 0 GUCY2C 2984 broad.mit.edu 37 12 14839150 14839150 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr12:14839150G>A ENST00000261170.3 - 3 476 c.340C>T c.(340-342)Cgg>Tgg p.R114W RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 114 R -> Q (in dbSNP:rs56275235). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CAGCCCATCCGTTGTGCATTC 0.438000 5 10 0 0 8.12818e-05 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12844381 12844381 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:12844381C>T ENST00000379672.5 + 8 891 c.591C>T c.(589-591)ctC>ctT p.L197L ARHGAP44_ENST00000340825.3_Silent_p.L197L|ARHGAP44_ENST00000262444.9_Silent_p.L197L NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 197 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 AGGACCAGCTCTCAGCTGATA 0.413000 11 45 0 0 0.00136819 0 0 STON1 11037 broad.mit.edu 37 2 48818852 48818852 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:48818852C>T ENST00000309835.3 + 2 2001 c.1991C>T c.(1990-1992)cCc>cTc p.P664L STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P664L|STON1_ENST00000404752.1_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P664L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P664L|STON1_ENST00000406226.1_Missense_Mutation_p.P664L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAAGAAATTCCCTCTGATTGG 0.438000 20 65 0 0 0.000586117 0 0 NMNAT2 23057 broad.mit.edu 37 1 183253915 183253915 + Missense_Mutation SNP C C A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:183253915C>A ENST00000287713.6 - 6 793 c.459G>T c.(457-459)ttG>ttT p.L153F NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.L148F NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 153 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 CCACCTTCCCCAAGATCTTGG 0.577000 5 69 0.000602214 0.00560132 0.000602214 1 0 HERC2P3 283755 broad.mit.edu 37 15 20643991 20643991 + RNA SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:20643991C>T ENST00000428453.1 - 0 3468 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGGCGACCATCGATGCCTCCA 0.577000 4 29 0 0 0.000602214 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 23 44 0 0 0.000878237 0 0 DNAH6 1768 broad.mit.edu 37 2 84780075 84780075 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:84780075G>A ENST00000389394.3 + 10 1656 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K DNAH6_ENST00000237449.6_Missense_Mutation_p.E507K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E507K NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 507 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 AGAAGAAGATGAATCTCTCAT 0.378000 11 38 0 0 0.000673444 0 0 ENAM 10117 broad.mit.edu 37 4 71509542 71509542 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:71509542C>T ENST00000396073.3 + 9 2680 c.2399C>T c.(2398-2400)cCa>cTa p.P800L ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 800 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CCAGCTAGGCCACCAGACCAG 0.463000 9 31 0 0 0.000673444 0 0 TP63 8626 broad.mit.edu 37 3 189526123 189526123 + Silent SNP G G A rs151335217 byFrequency TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr3:189526123G>A ENST00000264731.3 + 4 476 c.387G>A c.(385-387)tcG>tcA p.S129S TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Silent_p.S35S|TP63_ENST00000440651.2_Silent_p.S129S|TP63_ENST00000354600.5_Silent_p.S35S|TP63_ENST00000392460.3_Silent_p.S129S|TP63_ENST00000456148.1_Silent_p.S35S|TP63_ENST00000392463.2_Silent_p.S35S|TP63_ENST00000418709.2_Silent_p.S129S|TP63_ENST00000392461.3_Silent_p.S35S|TP63_ENST00000320472.5_Silent_p.S129S|TP63_ENST00000382063.4_Intron NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 129 S -> L. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACGGCTCCTCGTCCACCAGTC 0.592000 HNSCC(45;0.13) 17 21 0 0 0.000422831 0 0 DNAH10 196385 broad.mit.edu 37 12 124284935 124284935 + Splice_Site SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr12:124284935G>A ENST00000409039.3 + 14 2133 c.2108_splice c.e14+1 p.R703_splice NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 703 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) AAATTCCTTAGGTAAAAAAAT 0.368000 8 23 0 0 0.000274275 0 0 MGAM 8972 broad.mit.edu 37 7 141759379 141759379 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:141759379G>A ENST00000475668.2 + 32 3981 c.3927G>A c.(3925-3927)ggG>ggA p.G1309G MGAM_ENST00000549489.2_Silent_p.G1309G O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1309 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGGCTGATGGGATGCGGGTCA 0.507000 33 47 0 0 0.000491102 0 0 NBEAL1 65065 broad.mit.edu 37 2 204062079 204062079 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:204062079C>T ENST00000449802.1 + 47 7339 c.7006C>T c.(7006-7008)Cgt>Tgt p.R2336C NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2336 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 AAATCAGTATCGTTCTTTTAT 0.363000 117 251 0 0 0.000781405 0 0 CDAN1 146059 broad.mit.edu 37 15 43018511 43018511 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:43018511G>A ENST00000356231.3 - 24 3224 c.3201C>T c.(3199-3201)cgC>cgT p.R1067R NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 1067 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) AGCTCACCTGGCGGCACCGCA 0.642000 3 2 0 0 6.4e-05 0 0 SSH3 54961 broad.mit.edu 37 11 67077377 67077377 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:67077377C>T ENST00000308127.4 + 12 1525 c.1347C>T c.(1345-1347)atC>atT p.I449I SSH3_ENST00000376757.5_Silent_p.I449I|SSH3_ENST00000308298.7_Intron NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 449 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TCCGGCCCATCGCCCGCCCCA 0.672000 11 100 0 0 0.00185496 0 0 ORAI2 80228 broad.mit.edu 37 7 102079431 102079431 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:102079431G>A ENST00000356387.2 + 3 263 c.28G>A c.(28-30)Gac>Aac p.D10N ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000403646.3_Missense_Mutation_p.D10N|ORAI2_ENST00000478730.1_Missense_Mutation_p.D10N|ORAI2_ENST00000473939.1_Missense_Mutation_p.D10N NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 10 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CGTGCCTATCGACCCCTCTGC 0.602000 23 61 0 0 0.00127121 0 0 LPO 4025 broad.mit.edu 37 17 56326478 56326478 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:56326478C>T ENST00000262290.4 + 5 699 c.383C>T c.(382-384)cCc>cTc p.P128L LPO_ENST00000543544.1_Missense_Mutation_p.P69L|LPO_ENST00000421678.2_Missense_Mutation_p.P45L|LPO_ENST00000582328.1_Missense_Mutation_p.P45L NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 128 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GCTCCTGCTCCCGTGGTGAGA 0.597000 14 65 0 0 0.000308642 0 0 PGAP1 80055 broad.mit.edu 37 2 197784798 197784798 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:197784798G>A ENST00000354764.3 - 2 338 c.224C>T c.(223-225)gCt>gTt p.A75V PGAP1_ENST00000409475.1_Missense_Mutation_p.A75V|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.A33V NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 75 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 GTGTTCTTCAGCATAGGATCC 0.368000 29 67 0 0 0.00058488 0 0 DNAH7 56171 broad.mit.edu 37 2 196834754 196834754 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:196834754G>A ENST00000312428.6 - 17 2223 c.2123C>T c.(2122-2124)tCa>tTa p.S708L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 708 Stem (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 ATCTCCAAATGAATAAAATTC 0.328000 16 48 0 0 0.000566183 0 0 MYH4 4622 broad.mit.edu 37 17 10352058 10352058 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:10352058C>T ENST00000255381.2 - 32 4518 c.4408G>A c.(4408-4410)Gaa>Aaa p.E1470K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1470 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCCTCAAGTTCAGCCTGAGTT 0.453000 12 35 0 0 0.000308642 0 0 TMEM63C 57156 broad.mit.edu 37 14 77706863 77706863 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr14:77706863G>A ENST00000298351.4 + 13 1120 c.976G>A c.(976-978)Gac>Aac p.D326N NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 326 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GCAGCTAACGGACGAGTTCAA 0.632000 4 5 0 0 0.00024832 0 0 TMEM201 199953 broad.mit.edu 37 1 9657001 9657001 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:9657001C>T ENST00000340305.5 + 3 328 c.319C>T c.(319-321)Cct>Tct p.P107S TMEM201_ENST00000340381.6_Missense_Mutation_p.P107S|TMEM201_ENST00000377376.4_Missense_Mutation_p.P107S NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 107 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) CCTGCGCGACCCTTCGCAGCC 0.647000 9 23 0 0 0.000274275 0 0 KLF3 51274 broad.mit.edu 37 4 38690508 38690508 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr4:38690508G>A ENST00000261438.5 + 3 665 c.360G>A c.(358-360)ccG>ccA p.P120P KLF3_ENST00000514033.1_Silent_p.P120P NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 120 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 TCGGCGTGCCGCTGTCCATGC 0.647000 10 36 0 0 0.000442599 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206902126 206902126 + Silent SNP C C T rs140239057 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:206902126C>T ENST00000367103.3 + 2 544 c.351C>T c.(349-351)atC>atT p.I117I MAPKAPK2_ENST00000294981.4_Silent_p.I117I NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 117 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|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|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GCCCGCACATCGTACGGATCG 0.592000 23 25 0 0 0.000586117 0 0 CHD5 26038 broad.mit.edu 37 1 6194871 6194871 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:6194871G>A ENST00000262450.3 - 19 3018 c.2919C>T c.(2917-2919)tcC>tcT p.S973S CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 973 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGCCCCCCTTGGAGTTCAGTG 0.567000 38 68 0 0 0.000680045 0 0 HINT2 84681 broad.mit.edu 37 9 35813656 35813656 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr9:35813656G>A ENST00000259667.5 - 2 248 c.207C>T c.(205-207)ctC>ctT p.L69L HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 69 HIT. apoptosis|steroid biosynthetic process mitochondrion hydrolase activity p.L69L(1) NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GGTCCTCATAGAGAATGTCAG 0.562000 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 11 0 0 0.000422831 0 0 KCND3 3752 broad.mit.edu 37 1 112319687 112319687 + Missense_Mutation SNP A A G TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:112319687A>G ENST00000369697.1 - 5 1739 c.1670T>C c.(1669-1671)aTc>aCc p.I557T KCND3_ENST00000315987.2_Missense_Mutation_p.I576T|KCND3_ENST00000302127.4_Missense_Mutation_p.I557T Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 576 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTGGATGTGGATCGTGCTGAG 0.567000 8 15 0 0 0.000274275 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454688 114454688 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:114454688C>T ENST00000369563.3 + 4 1920 c.1474C>T c.(1474-1476)Ctt>Ttt p.L492F DCLRE1B_ENST00000466480.1_Intron NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 492 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) GGGCACCCCTCTTCTAGCTAC 0.522000 Other identified genes with known or suspected DNA repair function 30 65 0 0 0.000339439 0 0 MAP7D1 55700 broad.mit.edu 37 1 36645654 36645654 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:36645654C>T ENST00000316156.4 + 15 2840 c.2387C>T c.(2386-2388)tCc>tTc p.S796F MAP7D1_ENST00000373150.4_Missense_Mutation_p.S801F|MAP7D1_ENST00000373151.2_Missense_Mutation_p.S834F|MAP7D1_ENST00000373148.4_Missense_Mutation_p.S370F Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 834 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GTGGTGCAGTCCCCGCAGGTC 0.587000 4 9 0 0 0.000602214 0 0 OR4K5 79317 broad.mit.edu 37 14 20389662 20389662 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr14:20389662G>A ENST00000315915.4 + 1 922 c.897G>A c.(895-897)agG>agA p.R299R NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCCGTAAGGAAAATTGTGA 0.383000 23 135 0 0 0.00047179 0 0 TFE3 7030 broad.mit.edu 37 X 48887842 48887842 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chrX:48887842G>A ENST00000315869.7 - 10 1814 c.1555C>T c.(1555-1557)Ctg>Ttg p.L519L TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 519 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TCCAGCCCCAGGTGGAAGGGG 0.677000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 16 20 0 0 0.00074312 0 0 DAP3 7818 broad.mit.edu 37 1 155691323 155691323 + Nonsense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:155691323C>T ENST00000368336.5 + 4 308 c.184C>T c.(184-186)Cag>Tag p.Q62* DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000421487.2_Intron|DAP3_ENST00000343043.3_Nonsense_Mutation_p.Q62*|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Nonsense_Mutation_p.Q21*|MSTO1_ENST00000452804.2_Intron NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 62 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GCATGGGGATCAGCACGAGGG 0.463000 8 72 0 0 0.000157383 0 0 USP6 9098 broad.mit.edu 37 17 5076250 5076250 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:5076250G>A ENST00000574788.1 + 38 6428 c.4198G>A c.(4198-4200)Gaa>Aaa p.E1400K USP6_ENST00000250066.6_Missense_Mutation_p.E1400K|USP6_ENST00000304328.5_Missense_Mutation_p.E1083K|USP6_ENST00000332776.4_3'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1400 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTCTGATTACGAAAAGTACTC 0.463000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 13 21 0 0 0.000219431 0 0 MTFMT 123263 broad.mit.edu 37 15 65297207 65297207 + Silent SNP T T C TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr15:65297207T>C ENST00000220058.4 - 8 973 c.960A>G c.(958-960)ctA>ctG p.L320L NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 320 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) AATAAACCAATAGTATTTGTG 0.294000 18 40 0 0 0.00152264 0 0 FAM179A 165186 broad.mit.edu 37 2 29240666 29240666 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:29240666C>T ENST00000379558.4 + 10 1555 c.1204C>T c.(1204-1206)Ccc>Tcc p.P402S FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 402 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGGCCTCCTTCCCCTCCGGGG 0.602000 5 6 0 0 8.12818e-05 0 0 IRF9 10379 broad.mit.edu 37 14 24620532 24620532 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr14:24620532C>T ENST00000558468.1 + 1 106 c.106C>T c.(106-108)Cgt>Tgt p.R36C RNF31_ENST00000324103.6_Missense_Mutation_p.R561C|RNF31_ENST00000382687.3_Missense_Mutation_p.R410C|RNF31_ENST00000559275.1_Missense_Mutation_p.R410C CTGGCTGGATCGTCATGGCAA 0.597000 11 14 0 0 0.00185496 0 0 INSR 3643 broad.mit.edu 37 19 7125493 7125493 + Missense_Mutation SNP C C T rs121913148 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr19:7125493C>T ENST00000341500.5 - 16 3062 c.3023G>A c.(3022-3024)cGa>cAa p.R1008Q INSR_ENST00000302850.5_Missense_Mutation_p.R1020Q NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1020 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATCTTCTCTCGAGACACCTC 0.572000 71 67 0 0 0.000781405 0 0 TMEM201 199953 broad.mit.edu 37 1 9657000 9657000 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:9657000C>T ENST00000340305.5 + 3 327 c.318C>T c.(316-318)gaC>gaT p.D106D TMEM201_ENST00000340381.6_Silent_p.D106D|TMEM201_ENST00000377376.4_Silent_p.D106D NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 106 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GCCTGCGCGACCCTTCGCAGC 0.647000 9 25 0 0 0.000274275 0 0 LUM 4060 broad.mit.edu 37 12 91502039 91502039 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr12:91502039C>T ENST00000266718.4 - 2 1172 c.718G>A c.(718-720)Gaa>Aaa p.E240K LUM_ENST00000548071.1_5'UTR NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 240 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent p.E240K(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TCAGCCAGTTCGTTGTGAGAT 0.388000 17 27 0 0 0.000566183 0 0 INTS1 26173 broad.mit.edu 37 7 1526267 1526267 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:1526267G>A ENST00000389470.4 - 23 3398 c.3399C>T c.(3397-3399)gcC>gcT p.A1133A INTS1_ENST00000404767.3_Silent_p.A990A Q8N201 INT1_HUMAN integrator complex subunit 1 990 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCACCTTCATGGCCAGCACGC 0.632000 5 16 0 0 8.12818e-05 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877725 39877725 + Missense_Mutation SNP A A C TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr1:39877725A>C ENST00000530275.1 + 1 1575 c.1380A>C c.(1378-1380)gaA>gaC p.E460D MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 460 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATTCACTGGAAAAGCTGGACC 0.468000 21 46 0 0 0.00188189 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521370 125521370 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:125521370G>A ENST00000431078.1 + 15 2717 c.2353G>A c.(2353-2355)Ggt>Agt p.G785S NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 785 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GCGTTGCTATGGTGACCGTGA 0.458000 5 22 0 0 8.12818e-05 0 0 DCAKD 79877 broad.mit.edu 37 17 43111675 43111675 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr17:43111675G>A ENST00000452796.2 - 2 451 c.196C>T c.(196-198)Cgc>Tgc p.R66C DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.R66C|DCAKD_ENST00000342350.5_Missense_Mutation_p.R66C|DCAKD_ENST00000310604.4_Missense_Mutation_p.R66C Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 66 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) AGGACCTTGCGATTTATGTCG 0.597000 10 23 0 0 0.000442599 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41277926 41277926 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr22:41277926C>T ENST00000357137.4 + 3 418 c.334C>T c.(334-336)Ccc>Tcc p.P112S XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P89S|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P112S|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P112S NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 112 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 CAACGATATTCCCTATACTTT 0.468000 13 42 0 0 0.00185496 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515662 140515662 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:140515662G>A ENST00000231134.5 + 1 863 c.646G>A c.(646-648)Gac>Aac p.D216N NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 216 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACTGCACTGGACGGTGGGGC 0.547000 21 30 0 0 0.00121646 0 0 FOLR1 2348 broad.mit.edu 37 11 71907152 71907152 + Silent SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:71907152G>A ENST00000393679.1 + 5 1141 c.705G>A c.(703-705)ggG>ggA p.G235G RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.G235G|FOLR1_ENST00000312293.4_Silent_p.G235G|FOLR1_ENST00000393676.3_Silent_p.G235G P15328 FOLR1_HUMAN folate receptor 1 (adult) 235 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 CCATGAGTGGGGCTGGGCCCT 0.612000 63 36 0 0 0.000781405 0 0 CCDC108 255101 broad.mit.edu 37 2 219896318 219896318 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr2:219896318C>T ENST00000341552.5 - 7 791 c.708G>A c.(706-708)cgG>cgA p.R236R CCDC108_ENST00000453220.1_Silent_p.R236R|CCDC108_ENST00000441968.1_Silent_p.R236R|CCDC108_ENST00000410037.1_Silent_p.R171R|CCDC108_ENST00000409865.3_Silent_p.R225R NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 236 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGGGTGGCCCGTAGGCCGA 0.612000 17 55 0 0 0.00074312 0 0 ZNF615 284370 broad.mit.edu 37 19 52496598 52496598 + Silent SNP T T C TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr19:52496598T>C ENST00000602063.1 - 6 2080 c.1731A>G c.(1729-1731)ttA>ttG p.L577L ZNF615_ENST00000594083.1_Silent_p.L588L|ZNF615_ENST00000598071.1_Silent_p.L588L|ZNF615_ENST00000391795.3_Silent_p.L582L|ZNF615_ENST00000376716.5_Silent_p.L577L Q8N8J6 ZN615_HUMAN zinc finger protein 615 577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TTTTCCCAGTTAAGCCTTTGC 0.448000 20 47 0 0 0.000375601 0 0 LPHN1 22859 broad.mit.edu 37 19 14263412 14263412 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr19:14263412C>T ENST00000340736.6 - 21 3749 c.3452G>A c.(3451-3453)aGg>aAg p.R1151K LPHN1_ENST00000361434.3_Missense_Mutation_p.R1146K|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1151 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATTCCACATCCTCCGAATTCG 0.562000 4 7 0 0 0.00116845 0 0 NRXN2 9379 broad.mit.edu 37 11 64434811 64434811 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:64434811C>T ENST00000265459.6 - 9 2170 c.1709G>A c.(1708-1710)gGa>gAa p.G570E NRXN2_ENST00000377551.1_Missense_Mutation_p.G570E|NRXN2_ENST00000377559.3_Missense_Mutation_p.G539E|NRXN2_ENST00000409571.1_Missense_Mutation_p.G563E NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 570 Laminin G-like 3. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GCCCCCAGATCCCATGTCCAG 0.622000 20 44 0 0 0.00188189 0 0 SLC22A8 9376 broad.mit.edu 37 11 62782399 62782399 + Missense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr11:62782399C>T ENST00000336232.2 - 2 167 c.32G>A c.(31-33)gGa>gAa p.G11E SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G11E|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G11E 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 11 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 GCCCATGCTTCCCACACGGTC 0.592000 14 41 0 0 0.00185496 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149225411 149225411 + Missense_Mutation SNP G G A TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr5:149225411G>A ENST00000309241.5 + 11 2937 c.2905G>A c.(2905-2907)Gag>Aag p.E969K PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E930K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E969K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E905K NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 969 RRM. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GAAGCGCAACGAGCCCTCCTT 0.612000 14 10 0 0 0.00185496 0 0 GPC2 221914 broad.mit.edu 37 7 99769030 99769030 + Frame_Shift_Del DEL G G - TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr7:99769030delG ENST00000292377.2 - 9 1507 c.1340delC c.(1339-1341)cgfs p.P447fs GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 447 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGCTCGGCCGGGGAGCCCCC 0.766 2 4 --- --- --- --- TM7SF3 51768 broad.mit.edu 37 12 27167053 27167053 + Frame_Shift_Del DEL G G - TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr12:27167053delG ENST00000343028.4 - 1 274 c.49delC c.(49-51)ggfs p.R17fs TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 17 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) CCAGCCACCCGGTGTTCGGAT 0.662 2 4 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 16 158 --- --- --- --- GALR3 8484 broad.mit.edu 37 22 38221118 38221118 + Frame_Shift_Del DEL C C - TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60906421-eead-4324-8f52-47d391bd4894 25ed7029-c9d0-4b0d-8df9-064b77d89bce g.chr22:38221118delC ENST00000249041.2 + 2 773 c.748delC c.(748-750)cgfs p.P250fs NM_003614.1 NP_003605.1 O60755 GALR3_HUMAN galanin receptor 3 250 feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity endometrium(1)|liver(2)|lung(1) 4 Melanoma(58;0.045) CTGCTGGGGTCCGCACCACGC 0.771 2 4 --- --- --- ---