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 LILRB4 11006 broad.mit.edu 37 19 55177869 55177869 + Missense_Mutation SNP G G A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:55177869G>A ENST00000391736.1 + 11 1285 c.970G>A c.(970-972)Gtc>Atc p.V324I LILRB4_ENST00000270452.2_Missense_Mutation_p.V324I|LILRB4_ENST00000391733.3_Missense_Mutation_p.V324I|LILRB4_ENST00000391734.3_Missense_Mutation_p.V324I|LILRB4_ENST00000430952.2_Missense_Mutation_p.V324I NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 324 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) AGCTGCTGACGTCCAGGGAGA 0.582000 5 47 0 0 0.000602 0 0 OR10G2 26534 broad.mit.edu 37 14 22102940 22102940 + Missense_Mutation SNP C C A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr14:22102940C>A ENST00000542433.1 - 1 156 c.59G>T c.(58-60)gGt>gTt p.G20V NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GTGAGACAAACCCAGAAGAAT 0.463000 10 97 2.80697e-09 6.00791e-09 0.010729 1 0 ZNF208 7757 broad.mit.edu 37 19 22171640 22171640 + Silent SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:22171640C>T ENST00000397126.4 - 2 223 c.75G>A c.(73-75)caG>caA p.Q25Q ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000601773.1_Silent_p.Q25Q NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATAAATTCTGCTGTGCAGTGT 0.398000 7 118 0 0 0.004482 0 0 FCRL5 83416 broad.mit.edu 37 1 157490931 157490931 + Silent SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr1:157490931C>T ENST00000361835.3 - 11 2548 c.2391G>A c.(2389-2391)tcG>tcA p.S797S FCRL5_ENST00000356953.4_Silent_p.S797S|FCRL5_ENST00000461387.1_5'UTR NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 797 Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAGAGGGGGACGACCTATTTC 0.592000 15 113 0 0 0.004990 0 0 ADCY6 112 broad.mit.edu 37 12 49166147 49166147 + Silent SNP C C A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr12:49166147C>A ENST00000307885.4 - 17 3412 c.2718G>T c.(2716-2718)gcG>gcT p.A906A ADCY6_ENST00000550422.1_Silent_p.A853A|ADCY6_ENST00000357869.3_Silent_p.A853A NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 906 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 ACAGCGCCAGCGCAAACACCA 0.562000 6 60 3.59834e-05 7.0806e-05 0.001168 1 0 SUV39H2 79723 broad.mit.edu 37 10 14939251 14939251 + Missense_Mutation SNP A A G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr10:14939251A>G ENST00000313519.5 + 2 635 c.404A>G c.(403-405)gAt>gGt p.D135G SUV39H2_ENST00000354919.6_Missense_Mutation_p.D195G|SUV39H2_ENST00000378325.3_Intron NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 195 cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 TCATGCACAGATTGCTTCTTT 0.393000 9 81 0 0 0.006214 0 0 BTN1A1 696 broad.mit.edu 37 6 26509081 26509081 + Silent SNP C C A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr6:26509081C>A ENST00000244513.6 + 7 1326 c.1260C>A c.(1258-1260)cgC>cgA p.R420R NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 420 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 GGCCCCCACGCCGGGTTGGGA 0.502000 13 47 0.00010058 0.000194774 0.013537 1 0 TMC1 117531 broad.mit.edu 37 9 75387391 75387391 + Nonsense_Mutation SNP G G A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr9:75387391G>A ENST00000297784.5 + 13 1344 c.804G>A c.(802-804)tgG>tgA p.W268* TMC1_ENST00000340019.3_Nonsense_Mutation_p.W268*|TMC1_ENST00000396237.3_Nonsense_Mutation_p.W268* NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 268 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 CAATTGGATGGATGAATTTCA 0.398000 7 144 0 0 0.001984 0 0 PHLDB2 90102 broad.mit.edu 37 3 111686558 111686558 + Missense_Mutation SNP G G A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr3:111686558G>A ENST00000431670.2 + 15 3613 c.3202G>A c.(3202-3204)Gaa>Aaa p.E1068K PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1052K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1068K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E1025K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E1025K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E559K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1068 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 ACGAGCCCTGGAAGAAGAAAA 0.373000 OREG0015707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 0 0 0.000602 0 0 PCLO 27445 broad.mit.edu 37 7 82764796 82764796 + Silent SNP T T C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr7:82764796T>C ENST00000423517.2 - 3 2407 c.2070A>G c.(2068-2070)ccA>ccG p.P690P PCLO_ENST00000333891.8_Silent_p.P690P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 636 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GATCCTGTTTTGGTGCAGCAT 0.537000 11 36 0 0 0.010729 0 0 RC3H2 54542 broad.mit.edu 37 9 125613379 125613379 + Missense_Mutation SNP C C G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr9:125613379C>G ENST00000373670.1 - 19 3961 c.3361G>C c.(3361-3363)Ggt>Cgt p.G1121R RC3H2_ENST00000357244.2_Missense_Mutation_p.G1121R Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 1121 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGGTCTTCACCTAAACTCTGT 0.383000 23 150 0 0 0.003330 0 0 DLEC1 9940 broad.mit.edu 37 3 38104070 38104070 + Splice_Site SNP A A G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr3:38104070A>G ENST00000308059.6 + 5 894 c.e5-1 DLEC1_ENST00000452631.2_Splice_Site|DLEC1_ENST00000346219.3_Splice_Site Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TATGTTTCAAAGAAAGCAAGT 0.448000 9 30 0 0 0.004482 0 0 ABCG2 9429 broad.mit.edu 37 4 89020602 89020602 + Splice_Site SNP T T A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr4:89020602T>A ENST00000237612.3 - 12 1913 c.e12-2 ABCG2_ENST00000515655.1_Splice_Site NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TATTCATGTCTATAGAACAAA 0.383000 7 50 0 0 0.001984 0 0 MYO19 80179 broad.mit.edu 37 17 34858967 34858967 + Missense_Mutation SNP C C A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr17:34858967C>A ENST00000431794.3 - 21 2572 c.2050G>T c.(2050-2052)Gac>Tac p.D684Y MYO19_ENST00000268852.9_Missense_Mutation_p.D484Y NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 684 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TATGGGCTGTCGGGGCCAGAG 0.517000 14 139 0.000219431 0.000405616 0.002450 1 0 KCNA2 3737 broad.mit.edu 37 1 111145958 111145958 + Missense_Mutation SNP T T C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr1:111145958T>C ENST00000485317.1 - 3 2120 c.1447A>G c.(1447-1449)Acc>Gcc p.T483A KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.T483A|KCNA2_ENST00000440270.1_Missense_Mutation_p.T483A P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 483 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) TTAGCCAAGGTACAGTTGGCT 0.383000 22 59 0 0 0.012319 0 0 TRPV5 56302 broad.mit.edu 37 7 142625303 142625303 + Silent SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr7:142625303C>T ENST00000265310.1 - 7 1137 c.789G>A c.(787-789)cgG>cgA p.R263R TRPV5_ENST00000442623.1_Silent_p.R263R NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 263 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GGATGTGCCTCCGCTTCTGCA 0.572000 17 90 0 0 0.008871 0 0 GMEB2 26205 broad.mit.edu 37 20 62236177 62236177 + Missense_Mutation SNP C C G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr20:62236177C>G ENST00000266068.1 - 2 626 c.148G>C c.(148-150)Gat>Cat p.D50H GMEB2_ENST00000370069.1_5'UTR|GMEB2_ENST00000370077.1_Missense_Mutation_p.D50H Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 50 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) TCCATGTTATCTTCCGTCAGG 0.572000 5 98 0 0 0.001168 0 0 PARD3B 117583 broad.mit.edu 37 2 206364756 206364756 + Splice_Site SNP G G T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr2:206364756G>T ENST00000406610.2 + 21 3387 c.e21+1 PARD3B_ENST00000358768.2_Splice_Site|PARD3B_ENST00000351153.1_Splice_Site|PARD3B_ENST00000488622.1_Splice_Site|PARD3B_ENST00000349953.3_Splice_Site NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCTACTCTGGGTAAGCGCATG 0.418000 17 86 3.32936e-07 7.00313e-07 0.006122 1 0 RRP36 88745 broad.mit.edu 37 6 42992821 42992821 + Missense_Mutation SNP C C G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr6:42992821C>G ENST00000244496.5 + 2 239 c.229C>G c.(229-231)Caa>Gaa p.Q77E NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 77 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TCCTAAGAAACAAGCTTCTAG 0.443000 5 28 0 0 0.000602 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519925 69519925 + Silent SNP G G T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr4:69519925G>T ENST00000338206.5 - 5 1152 c.1143C>A c.(1141-1143)atC>atA p.I381I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 381 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TCGCCTCATAGATGCCATTGG 0.413000 8 127 1.58986e-06 3.28752e-06 0.008291 1 0 ABCC6 368 broad.mit.edu 37 16 16248520 16248520 + Silent SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr16:16248520C>T ENST00000205557.7 - 29 4202 c.4173G>A c.(4171-4173)ctG>ctA p.L1391L NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1391 ABC transporter 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) ACTTGTACTGCAGCTGGCCGG 0.657000 4 30 0 0 0.000602 0 0 FAM120C 54954 broad.mit.edu 37 X 54107840 54107840 + Missense_Mutation SNP C C A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chrX:54107840C>A ENST00000375180.2 - 14 2949 c.2893G>T c.(2893-2895)Gtg>Ttg p.V965L FAM120C_ENST00000328235.4_Missense_Mutation_p.L827F NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 965 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CACTGGCCCACAACCATCCCA 0.562000 12 30 0.00136819 0.00249134 0.013537 1 0 CCDC180 100499483 broad.mit.edu 37 9 100105801 100105801 + Silent SNP A A G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr9:100105801A>G ENST00000375202.2 + 33 3938 c.2586A>G c.(2584-2586)gaA>gaG p.E862E CCDC180_ENST00000357054.1_Silent_p.E1001E|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.E862E|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Silent_p.E859E coiled-coil domain containing 180 AGTTCATAGAACAAGTGACAA 0.373000 8 28 0 0 0.006214 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128902344 128902344 + Silent SNP G G A rs142832297 byFrequency TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chrX:128902344G>A ENST00000371106.3 + 21 2100 c.1908G>A c.(1906-1908)gaG>gaA p.E636E NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 636 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 AGCTACTAGAGGAGTTCGAGT 0.617000 7 30 0 0 0.006214 0 0 PCSK4 54760 broad.mit.edu 37 19 1488242 1488242 + Missense_Mutation SNP A A C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:1488242A>C ENST00000300954.5 - 3 393 c.332T>G c.(331-333)gTg>gGg p.V111G PCSK4_ENST00000587784.1_5'UTR NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 111 proteolysis integral to membrane serine-type endopeptidase activity p.V111G(1) cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGCGTTTCACCCGCCGCTG 0.682000 4 6 0 0 0.013537 0 0 LINGO2 158038 broad.mit.edu 37 9 27949218 27949218 + Silent SNP G G T rs150860330 TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr9:27949218G>T ENST00000379992.2 - 6 1901 c.1452C>A c.(1450-1452)atC>atA p.I484I LINGO2_ENST00000308675.3_Silent_p.I484I NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 484 Ig-like C2-type. integral to membrane p.I484I(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CATTGCTAGCGATGCAAACAT 0.493000 6 37 3.59834e-05 7.0806e-05 0.001168 1 0 LRRC6 23639 broad.mit.edu 37 8 133645019 133645019 + Missense_Mutation SNP T T C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr8:133645019T>C ENST00000519595.1 - 5 718 c.620A>G c.(619-621)gAt>gGt p.D207G LRRC6_ENST00000518642.1_Missense_Mutation_p.D207G|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000250173.1_Missense_Mutation_p.D207G Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 207 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCAACGTCCATCAAAGCCTGC 0.373000 15 121 0 0 0.004007 0 0 ZNF711 7552 broad.mit.edu 37 X 84510318 84510318 + Missense_Mutation SNP G G C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chrX:84510318G>C ENST00000360700.4 + 4 1019 c.133G>C c.(133-135)Gtt>Ctt p.V45L ZNF711_ENST00000395402.1_Missense_Mutation_p.V23L|ZNF711_ENST00000373165.3_Missense_Mutation_p.V45L|ZNF711_ENST00000276123.3_Missense_Mutation_p.V45L Q9Y462 ZN711_HUMAN zinc finger protein 711 45 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGTTGTTTCAGTTCCTGAAGC 0.378000 12 27 0 0 0.001855 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102885 20102885 + Missense_Mutation SNP T T A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr22:20102885T>A ENST00000252136.7 - 4 1182 c.794A>T c.(793-795)tAc>tTc p.Y265F TRMT2A_ENST00000404751.3_Missense_Mutation_p.Y265F|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.Y265F|TRMT2A_ENST00000403707.3_Missense_Mutation_p.Y265F NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 265 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 CCCGCCCTTGTACTTGCCGAG 0.592000 11 51 0 0 0.010729 0 0 DHRS2 10202 broad.mit.edu 37 14 24108035 24108035 + Splice_Site SNP G G C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr14:24108035G>C ENST00000250383.6 + 2 438 c.e2-1 DHRS2_ENST00000344777.7_Splice_Site|DHRS2_ENST00000553896.1_Splice_Site NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CTTTCCCCCAGGCCTGATTCA 0.517000 8 80 0 0 0.004482 0 0 SPERT 220082 broad.mit.edu 37 13 46276977 46276977 + Missense_Mutation SNP T T C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr13:46276977T>C ENST00000310521.1 + 2 223 c.143T>C c.(142-144)gTg>gCg p.V48A NM_152719.1 NP_689932.1 Q8NA61 SPERT_HUMAN spermatid associated 48 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCAATCAGTGTGGTTCTACCT 0.413000 8 27 0 0 0.004482 0 0 RINT1 60561 broad.mit.edu 37 7 105195643 105195643 + Nonsense_Mutation SNP C C G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr7:105195643C>G ENST00000257700.2 + 11 1871 c.1640C>G c.(1639-1641)tCa>tGa p.S547* NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 547 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AACTACATCTCAACAGTACTA 0.323000 4 67 0 0 0.009096 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 3 43 0 0 0.004672 0 0 PLEC 5339 broad.mit.edu 37 8 145006974 145006974 + Missense_Mutation SNP G G A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr8:145006974G>A ENST00000322810.4 - 14 2304 c.2135C>T c.(2134-2136)gCa>gTa p.A712V PLEC_ENST00000398774.2_Missense_Mutation_p.A543V|PLEC_ENST00000345136.3_Missense_Mutation_p.A575V|PLEC_ENST00000527096.1_Missense_Mutation_p.A598V|PLEC_ENST00000354589.3_Missense_Mutation_p.A575V|PLEC_ENST00000356346.3_Missense_Mutation_p.A561V|PLEC_ENST00000354958.2_Missense_Mutation_p.A553V|PLEC_ENST00000436759.2_Missense_Mutation_p.A602V|PLEC_ENST00000357649.2_Missense_Mutation_p.A579V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 712 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTCACTCCGTGCCCGCTCGAT 0.692000 6 15 0 0 0.001168 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970715 101970715 + Silent SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chrX:101970715C>T ENST00000543253.1 + 5 1837 c.918C>T c.(916-918)ccC>ccT p.P306P GPRASP2_ENST00000535209.1_Silent_p.P306P|GPRASP2_ENST00000332262.5_Silent_p.P306P NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TGTTCAGGCCCAGAGTCAGGG 0.463000 24 61 0 0 0.002780 0 0 PTPRT 11122 broad.mit.edu 37 20 41101003 41101003 + Silent SNP G G C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr20:41101003G>C ENST00000373198.3 - 8 1588 c.1353C>G c.(1351-1353)ggC>ggG p.G451G PTPRT_ENST00000356100.2_Silent_p.G451G|PTPRT_ENST00000373190.1_Silent_p.G451G|PTPRT_ENST00000373184.1_Silent_p.G451G|PTPRT_ENST00000373193.3_Silent_p.G451G|PTPRT_ENST00000373187.1_Silent_p.G451G|PTPRT_ENST00000373201.1_Silent_p.G451G NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 451 Fibronectin type-III 2. 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) AGGGGCGCAGGCCTCGCAGGG 0.602000 4 78 0 0 0.000602 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802689 31802689 + Silent SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr21:31802689C>T ENST00000334068.2 + 1 118 c.96C>T c.(94-96)agC>agT p.S32S NM_181600.1 NP_853631.1 Q3LI77 KR134_HUMAN keratin associated protein 13-4 32 intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 TGGTCTACAGCACTGCCCTCT 0.597000 11 92 0 0 0.008291 0 0 CLCN5 1184 broad.mit.edu 37 X 49853490 49853490 + Missense_Mutation SNP G G C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chrX:49853490G>C ENST00000376088.3 + 12 2334 c.1693G>C c.(1693-1695)Gat>Cat p.D565H CLCN5_ENST00000376108.3_Missense_Mutation_p.D495H|CLCN5_ENST00000376091.3_Missense_Mutation_p.D565H|CLCN5_ENST00000307367.2_Missense_Mutation_p.D495H NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 495 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) TCAGGGAGCTGATTGCATCAC 0.493000 9 74 0 0 0.008291 0 0 L1CAM 3897 broad.mit.edu 37 X 153134106 153134106 + Missense_Mutation SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chrX:153134106C>T ENST00000370060.1 - 13 1645 c.1456G>A c.(1456-1458)Gac>Aac p.D486N L1CAM_ENST00000370057.3_Missense_Mutation_p.D486N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D481N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D481N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D488N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D486N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D488N NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 486 Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCTGGAGGTCTCGAATGCCC 0.572000 9 33 0 0 0.004482 0 0 MYH4 4622 broad.mit.edu 37 17 10366910 10366910 + Silent SNP G G A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr17:10366910G>A ENST00000255381.2 - 8 809 c.699C>T c.(697-699)ttC>ttT p.F233F CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 233 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.F233F(1) 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 TGGCATTGCCGAAGGCTTCCA 0.423000 11 69 0 0 0.013537 0 0 SMOC2 64094 broad.mit.edu 37 6 168910629 168910629 + Missense_Mutation SNP G G T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr6:168910629G>T ENST00000354536.5 + 2 339 c.119G>T c.(118-120)tGt>tTt p.C40F SMOC2_ENST00000356284.2_Missense_Mutation_p.C40F NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 40 Kazal-like. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) GACAAGGATTGTAGCTTGGAC 0.438000 6 79 0.000157383 0.000295396 0.003080 1 0 GLI3 2737 broad.mit.edu 37 7 42005257 42005257 + Silent SNP G G A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr7:42005257G>A ENST00000395925.3 - 15 3498 c.3414C>T c.(3412-3414)caC>caT p.H1138H GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1138 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCTGGCCAGCGTGGCTGTCTG 0.677000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 10 121 0 0 0.006214 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545239 234545239 + Missense_Mutation SNP A A G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr2:234545239A>G ENST00000344644.5 + 1 140 c.71A>G c.(70-72)gAg>gGg p.E24G UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.E24G NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) GGCTTTGCCGAGGCAGGGAAG 0.592000 16 104 0 0 0.004007 0 0 HOXC11 3227 broad.mit.edu 37 12 54369022 54369022 + Missense_Mutation SNP T T A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr12:54369022T>A ENST00000546378.1 + 2 856 c.740T>A c.(739-741)cTg>cAg p.L247Q HOXC11_ENST00000243082.4_Silent_p.T248T O43248 HXC11_HUMAN homeobox C11 247 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 ATCCGGGAACTGGAGCGAGAG 0.567000 T NUP98 AML 8 47 0 0 0.004482 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 17 0 0 0.001168 0 0 ABCC1 4363 broad.mit.edu 37 16 16208863 16208863 + Missense_Mutation SNP T T C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr16:16208863T>C ENST00000399408.2 + 24 3525 c.3350T>C c.(3349-3351)gTt>gCt p.V1117A ABCC1_ENST00000345148.5_Missense_Mutation_p.V1107A|ABCC1_ENST00000399410.3_Missense_Mutation_p.V1107A|ABCC1_ENST00000349029.5_Missense_Mutation_p.V992A|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1048A|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1051A P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1107 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCCTGCATCGTTATCCTGCTG 0.567000 6 45 0 0 0.001984 0 0 PCNX 22990 broad.mit.edu 37 14 71555974 71555974 + Missense_Mutation SNP T T A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr14:71555974T>A ENST00000304743.2 + 30 5950 c.5504T>A c.(5503-5505)aTt>aAt p.I1835N PCNX_ENST00000439984.3_Missense_Mutation_p.I1724N|PCNX_ENST00000238570.5_Missense_Mutation_p.I1763N NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1835 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATTTCTTCAATTCGAGATGAA 0.363000 4 44 0 0 0.009096 0 0 RALGPS2 55103 broad.mit.edu 37 1 178790800 178790800 + Silent SNP A A G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr1:178790800A>G ENST00000367635.3 + 7 779 c.441A>G c.(439-441)ctA>ctG p.L147L RALGPS2_ENST00000324778.4_Silent_p.L112L|RALGPS2_ENST00000367634.2_Silent_p.L147L NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 147 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTTCTGGCCTACAGAGTGCCC 0.388000 34 80 0 0 0.004878 0 0 ZNF571 51276 broad.mit.edu 37 19 38056962 38056962 + Nonsense_Mutation SNP G G C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:38056962G>C ENST00000328550.2 - 4 467 c.368C>G c.(367-369)tCa>tGa p.S123* ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Nonsense_Mutation_p.S123*|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000593133.1_Nonsense_Mutation_p.S123*|ZNF571_ENST00000358744.3_Nonsense_Mutation_p.S123*|ZNF571-AS1_ENST00000585578.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAAGAGGTTGAATGACTTTC 0.403000 9 74 0 0 0.004482 0 0 PRKRA 8575 broad.mit.edu 37 2 179315119 179315119 + Missense_Mutation SNP C C T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr2:179315119C>T ENST00000325748.4 - 2 285 c.85G>A c.(85-87)Gct>Act p.A29T PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000487082.1_Missense_Mutation_p.A4T|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000432031.2_Missense_Mutation_p.A18T NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator 29 Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) CCTGGCTTAGCTGTTATCATC 0.428000 9 173 0 0 0.010729 0 0 LRRC7 57554 broad.mit.edu 37 1 70482195 70482195 + Missense_Mutation SNP C C A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr1:70482195C>A ENST00000310961.5 + 15 1617 c.1199C>A c.(1198-1200)gCt>gAt p.A400D RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.A395D Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 395 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GAGCTTGCAGCTTTGTGGCTT 0.294000 7 38 0.000157383 0.000295396 0.003080 1 0 BAGE2 85319 broad.mit.edu 37 21 11098920 11098920 + RNA SNP A A G rs78230864 TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr21:11098920A>G ENST00000470054.1 - 0 5 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gggagataccagagaccctaa 0.572000 3 13 0 0 0.004672 0 0 PTOV1 53635 broad.mit.edu 37 19 50360330 50360330 + Silent SNP C C G TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:50360330C>G ENST00000391842.1 + 6 827 c.657C>G c.(655-657)ccC>ccG p.P219P PTOV1_ENST00000600603.1_Silent_p.P187P|PTOV1_ENST00000221557.9_Silent_p.P187P|PTOV1_ENST00000599732.1_Silent_p.P219P|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601675.1_Silent_p.P219P|PTOV1_ENST00000601638.1_Silent_p.P187P NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 219 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) GCCTCATCCCCTACGACCAGA 0.622000 29 186 0 0 0.008361 0 0 CD109 135228 broad.mit.edu 37 6 74521963 74521963 + Silent SNP C C G rs144445787 TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr6:74521963C>G ENST00000437994.2 + 29 4118 c.3687C>G c.(3685-3687)tcC>tcG p.S1229S CD109_ENST00000422508.2_Silent_p.S1169S|CD109_ENST00000287097.5_Silent_p.S1246S NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1246 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTAATATTTCCGCAAATGGTT 0.333000 5 53 0 0 0.001168 0 0 CSPG4 1464 broad.mit.edu 37 15 75982728 75982728 + Silent SNP T T C TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr15:75982728T>C ENST00000308508.5 - 3 770 c.678A>G c.(676-678)ctA>ctG p.L226L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 226 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTGTAAACTCTAGGGTTCCTT 0.607000 3 51 0 0 0.004672 0 0 BOD1L1 259282 broad.mit.edu 37 4 13582680 13582681 + Splice_Site INS - - A TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr4:13582680_13582681insA ENST00000040738.5 - 21 8804 c.e21-2 NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 DNA binding AGTCGTCTTCTAAAAAAAAAAA 0.337 2 4 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 3 6 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 2 4 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 3 3 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1207065 1207065 + Frame_Shift_Del DEL G G - TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:1207065delG ENST00000326873.7 + 1 1326 c.153delG c.(151-153)atfs p.M51fs STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 51 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AGTACCTGATGGGGGACCTGC 0.607 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 40 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 49001784 49001784 + Frame_Shift_Del DEL G G - TCGA-78-7160-01A-11D-2036-08 TCGA-78-7160-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx b484b2dd-a2e1-430c-bbb4-61ac5db5d1e9 37732c62-0d8b-4ba4-a832-55cd5d0f6d49 g.chr19:49001784delG ENST00000600059.1 - 11 2769 c.2542delC c.(2542-2544)ggfs p.R848fs LMTK3_ENST00000270238.3_Frame_Shift_Del_p.R877fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGCTTCTCCCGGGGCCCCGGG 0.716 2 4 --- --- --- ---