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 FCRL5 83416 broad.mit.edu 37 1 157504477 157504477 + Silent SNP T T C TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:157504477T>C ENST00000361835.3 - 8 1765 c.1608A>G c.(1606-1608)tcA>tcG p.S536S FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 536 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity p.S536S(1) 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) AGTAATTCCCTGAATGTCCTT 0.512000 31 55 0 0 0.760397 0 0 DDX50 79009 broad.mit.edu 37 10 70673941 70673941 + Missense_Mutation SNP A A G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr10:70673941A>G ENST00000373585.3 + 7 1177 c.1070A>G c.(1069-1071)aAg>aGg p.K357R NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 357 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 ATGACTCAAAAGGCTGCAACT 0.338000 3 137 0 0 0.115264 0 0 HAP1 9001 broad.mit.edu 37 17 39881381 39881381 + Nonsense_Mutation SNP G G A rs151108506 TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr17:39881381G>A ENST00000393939.2 - 10 1366 c.1357C>T c.(1357-1359)Cga>Tga p.R453* HAP1_ENST00000347901.4_Nonsense_Mutation_p.R478*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Nonsense_Mutation_p.R461*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.R530* P54257 HAP1_HUMAN huntingtin-associated protein 1 477 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) ACCTGCTCTCGATCCTCACTG 0.607000 6 300 0 0 0.278610 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 98 0 0 0.150653 0 0 NLRP5 126206 broad.mit.edu 37 19 56539873 56539873 + Silent SNP A A G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr19:56539873A>G ENST00000390649.3 + 7 2274 c.2274A>G c.(2272-2274)ctA>ctG p.L758L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 758 mitochondrion|nucleolus ATP binding p.L758L(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGGTCCCTCTATGGTGAGTAC 0.527000 8 346 0 0 0.335167 0 0 DDX19B 11269 broad.mit.edu 37 16 70363960 70363960 + Missense_Mutation SNP A A G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr16:70363960A>G ENST00000288071.6 + 9 1257 c.1012A>G c.(1012-1014)Atc>Gtc p.I338V DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 338 Helicase C-terminal. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.I338V(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) TCAAGCCATGATCTTCTGCCA 0.592000 11 150 0 0 0.457914 0 0 EFS 0 broad.mit.edu 37 14 23828655 23828655 + Silent SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr14:23828655C>T ENST00000216733.3 - 4 1639 c.1032G>A c.(1030-1032)ctG>ctA p.L344L EFS_ENST00000429593.2_Silent_p.L175L|EFS_ENST00000351354.3_Silent_p.L251L NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 344 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding p.L344L(1) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CATAACCAGGCAGGCGGGGTG 0.687000 33 61 0 0 0.760397 0 0 NOVA1 4857 broad.mit.edu 37 14 26917261 26917261 + Silent SNP T T C TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr14:26917261T>C ENST00000539517.2 - 5 1745 c.1428A>G c.(1426-1428)ggA>ggG p.G476G NOVA1_ENST00000267422.7_Silent_p.G354G|NOVA1_ENST00000465357.2_Silent_p.G452G NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 479 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.G476G(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CAGCTGGTGTTCCAGTAATGG 0.458000 50 90 0 0 0.870114 0 0 GIF 2694 broad.mit.edu 37 11 59608634 59608634 + Silent SNP A A G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr11:59608634A>G ENST00000541311.1 - 5 834 c.600T>C c.(598-600)agT>agC p.S200S GIF_ENST00000257248.2_Silent_p.S225S P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 225 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding p.S225S(1) large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 CGAGGCCAGTACTGTAGATGT 0.463000 57 101 0 0 0.870114 0 0 GSKIP 51527 broad.mit.edu 37 14 96848763 96848763 + Missense_Mutation SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr14:96848763C>T ENST00000556095.1 + 3 1991 c.179C>T c.(178-180)gCg>gTg p.A60V GSKIP_ENST00000554182.1_Missense_Mutation_p.A60V|GSKIP_ENST00000438650.1_Missense_Mutation_p.A60V|GSKIP_ENST00000555181.1_Missense_Mutation_p.A60V NM_001271904.1 NP_001258833.1 GSK3B interacting protein p.A60V(1) CTGCGGTGTGCGGATGATGTG 0.428000 74 110 0 0 0.870114 0 0 ADH4 127 broad.mit.edu 37 4 100062745 100062745 + Missense_Mutation SNP T T C TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr4:100062745T>C ENST00000508393.1 - 4 431 c.266A>G c.(265-267)gAg>gGg p.E89G ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|ADH4_ENST00000265512.7_Missense_Mutation_p.E70G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.E89G P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 70 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) ACCTGCAGCCTCATGGCCAAC 0.418000 3 101 0 0 0.115264 0 0 DHX57 90957 broad.mit.edu 37 2 39088318 39088318 + Missense_Mutation SNP T T C TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr2:39088318T>C ENST00000295373.6 - 5 1360 c.1234A>G c.(1234-1236)Ata>Gta p.I412V DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 412 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding p.I412V(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AAAAGGGTTATCAAAGAATAT 0.423000 106 149 0 0 0.870114 0 0 IL17RC 84818 broad.mit.edu 37 3 9970113 9970113 + Silent SNP T T G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr3:9970113T>G ENST00000295981.3 + 11 1433 c.1215T>G c.(1213-1215)ggT>ggG p.G405G IL17RC_ENST00000383812.4_Silent_p.G319G|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.G334G|IL17RC_ENST00000455057.1_Silent_p.G319G|IL17RC_ENST00000413608.1_Silent_p.G334G|IL17RC_ENST00000416074.2_Silent_p.G190G NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 405 integral to membrane|plasma membrane receptor activity p.G405G(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGGCTCCGGGTGGGGACCCCT 0.682000 12 63 0 0 0.840704 0 0 USH2A 7399 broad.mit.edu 37 1 216052411 216052411 + Silent SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:216052411G>A ENST00000366943.2 - 42 8639 c.8253C>T c.(8251-8253)aaC>aaT p.N2751N USH2A_ENST00000307340.3_Silent_p.N2751N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2751 Fibronectin type-III 14. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.N2751N(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTATGTCTCCGTTCTGGATGA 0.418000 HNSCC(13;0.011) 60 111 0 0 0.870114 0 0 LRP1 4035 broad.mit.edu 37 12 57566959 57566959 + Missense_Mutation SNP C C A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr12:57566959C>A ENST00000243077.3 + 21 3638 c.3172C>A c.(3172-3174)Ccc>Acc p.P1058T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1058 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.P1058T(3) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGCCACGAGGCCCCCTGGTGG 0.672000 OREG0021936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 54 7.48243e-07 8.78372e-07 0.335167 1 0 DUSP16 80824 broad.mit.edu 37 12 12630584 12630584 + Missense_Mutation SNP T T C TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr12:12630584T>C ENST00000228862.2 - 7 1812 c.1181A>G c.(1180-1182)aAt>aGt p.N394S DUSP16_ENST00000298573.4_3'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 394 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.N394S(1) endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CTTGAGCTTATTGCTGTCTTC 0.552000 53 91 0 0 0.870114 0 0 PRKDC 5591 broad.mit.edu 37 8 48771531 48771531 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr8:48771531G>A ENST00000314191.2 - 48 6277 c.6221C>T c.(6220-6222)aCg>aTg p.T2074M PRKDC_ENST00000338368.3_Missense_Mutation_p.T2074M|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2075 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.T2075M(1)|p.T2074M(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATCATGCACCGTGGGGTCCCG 0.602000 Non-homologous end-joining 7 265 0 0 0.278610 0 0 MST1L 0 broad.mit.edu 37 1 17084968 17084968 + RNA SNP G G C rs2761533 TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:17084968G>C ENST00000455405.2 - 0 220 p.R472G(1)|p.R503G(1) CACCGATTCCGCAAGCTGACT 0.617000 9 72 0 0 0.361761 0 0 NRCAM 4897 broad.mit.edu 37 7 107834822 107834822 + Missense_Mutation SNP T T A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr7:107834822T>A ENST00000379028.3 - 16 1984 c.1514A>T c.(1513-1515)cAt>cTt p.H505L NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000425651.2_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 505 Ig-like 5. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding p.H499L(1) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TCCATTTTCATGTAAAACATA 0.333000 62 116 0 0 0.870114 0 0 SORBS1 10580 broad.mit.edu 37 10 97192297 97192297 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr10:97192297G>A ENST00000371247.2 - 6 398 c.209C>T c.(208-210)gCg>gTg p.A70V SORBS1_ENST00000607232.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371246.2_Missense_Mutation_p.A70V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A70V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Missense_Mutation_p.A70V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A70V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371227.4_Missense_Mutation_p.A70V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A70V|SORBS1_ENST00000361941.3_Missense_Mutation_p.A70V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A70V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A38V|SORBS1_ENST00000277982.5_Missense_Mutation_p.A70V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A70V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A38V Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 70 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity p.A70V(2) NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GAGAGTCACCGCTCCCTTCCC 0.517000 45 86 0 0 0.847076 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 43 0 0 0.115264 0 0 CLIP1 6249 broad.mit.edu 37 12 122825728 122825728 + Nonsense_Mutation SNP C C A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr12:122825728C>A ENST00000358808.2 - 10 2144 c.1990G>T c.(1990-1992)Gaa>Taa p.E664* CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.E675*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664* NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 675 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding p.E664*(1) NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TGCAAATTTTCTATTTCGTGT 0.388000 147 255 3.04763e-91 3.85716e-91 0.870114 1 0 MYNN 55892 broad.mit.edu 37 3 169497118 169497118 + Missense_Mutation SNP A A G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr3:169497118A>G ENST00000349841.5 + 3 1492 c.829A>G c.(829-831)Ata>Gta p.I277V MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V|MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 277 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I277V(1) 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) TATGTCTAATATAGCCAGCGT 0.458000 28 59 0 0 0.706142 0 0 MRPL38 64978 broad.mit.edu 37 17 73897875 73897875 + Missense_Mutation SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr17:73897875C>T ENST00000309352.3 - 4 1046 c.509G>A c.(508-510)cGa>cAa p.R170Q MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 170 actin cytoskeleton|mitochondrion|ribosome p.R170Q(1) ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGGGGGACTCGGGGCACAAA 0.607000 29 49 0 0 0.706142 0 0 ARID5A 10865 broad.mit.edu 37 2 97216444 97216444 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr2:97216444G>A ENST00000454558.2 + 6 1517 c.340G>A c.(340-342)Gcc>Acc p.A114T ARID5A_ENST00000357485.3_Missense_Mutation_p.A182T Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 182 ARID. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding p.A182T(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 GCCGAAGAAGGCCAAGGAGGA 0.647000 8 5 0 0 0.335167 0 0 ADCY8 114 broad.mit.edu 37 8 131792813 131792813 + Silent SNP G G A rs146198447 TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr8:131792813G>A ENST00000286355.5 - 18 5671 c.3579C>T c.(3577-3579)gcC>gcT p.A1193A ADCY8_ENST00000377928.3_Silent_p.A1062A NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1193 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.A1193A(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGACAACCGCGGCCAGGGAGT 0.498000 HNSCC(32;0.087) 62 99 0 0 0.870114 0 0 CHD6 0 broad.mit.edu 37 20 40162157 40162157 + Missense_Mutation SNP T T C TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr20:40162157T>C ENST00000373233.3 - 3 263 c.86A>G c.(85-87)aAt>aGt p.N29S CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 29 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding p.N29S(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTAGTCAAAATTGACAGAGGC 0.388000 80 101 0 0 0.870114 0 0 CNDP1 84735 broad.mit.edu 37 18 72228208 72228208 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr18:72228208G>A ENST00000582365.1 + 3 358 c.292G>A c.(292-294)Ggc>Agc p.G98S CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G141S Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 141 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity p.G141S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TGCTGACCGGGGCGATGGGTG 0.622000 87 132 0 0 0.870114 0 0 ANKEF1 63926 broad.mit.edu 37 20 10026343 10026343 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr20:10026343G>A ENST00000378380.3 + 5 1147 c.818G>A c.(817-819)cGa>cAa p.R273Q SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q|SNAP25-AS1_ENST00000603542.1_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 p.R273Q(1) ATAGCTCAGCGAGGTAAAATT 0.408000 31 77 0 0 0.750413 0 0 RPS9 6203 broad.mit.edu 37 19 54710365 54710365 + Missense_Mutation SNP A A C TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr19:54710365A>C ENST00000441429.1 + 3 467 c.442A>C c.(442-444)Acc>Ccc p.T148P RPS9_ENST00000302907.4_Intron|RPS9_ENST00000391752.1_Intron|RPS9_ENST00000402367.1_Intron|RPS9_ENST00000391753.2_Intron|RPS9_ENST00000391751.3_Intron P46781 RS9_HUMAN ribosomal protein S9 0 S4 RNA-binding. endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 20 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.18) ATCTTCCTCCACCTGCCCCTC 0.592000 9 12 0 0 0.457914 0 0 MRPL20 55052 broad.mit.edu 37 1 1341203 1341203 + Missense_Mutation SNP C C A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:1341203C>A ENST00000482352.1 - 3 334 c.262G>T c.(262-264)Ggg>Tgg p.G88W MRPL20_ENST00000344843.7_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 88 protein binding|rRNA binding p.G88W(1) endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACTAAATTCCCAATGAGCGCT 0.448000 13 289 0.000151284 0.000172592 0.435327 1 0 ERMAP 114625 broad.mit.edu 37 1 43296646 43296646 + Missense_Mutation SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:43296646C>T ENST00000328249.3 + 1 1061 c.23C>T c.(22-24)aCg>aTg p.T8M ERMAP_ENST00000372514.3_Missense_Mutation_p.T98M|ERMAP_ENST00000372517.2_Missense_Mutation_p.T98M|ERMAP_ENST00000487556.1_Intron Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 98 integral to membrane|plasma membrane p.T98M(1) breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AAGGGGAGGACGGTGCTAGTG 0.562000 22 45 0 0 0.639603 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 123 0 0 0.150653 0 0 TTN 7273 broad.mit.edu 37 2 179477937 179477937 + Silent SNP A A G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr2:179477937A>G ENST00000589042.1 - 264 49823 c.49599T>C c.(49597-49599)ccT>ccC p.P16533P TTN_ENST00000359218.5_Silent_p.P7593P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.P14892P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P7660P|TTN_ENST00000460472.2_Silent_p.P7468P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P13965P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14892 Fibronectin type-III 20. 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) TTGGTTTTCCAGGTCCAGCAA 0.338000 3 86 0 0 0.115264 0 0 OR2C3 81472 broad.mit.edu 37 1 247695757 247695757 + Silent SNP G G A rs61746303 byFrequency TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:247695757G>A ENST00000366487.3 - 2 418 c.57C>T c.(55-57)tcC>tcT p.S19S GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S19S(1)|p.S18S(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGGGTCGTGTGGAGAAGCCCA 0.488000 46 87 0 0 0.870114 0 0 TPR 7175 broad.mit.edu 37 1 186295344 186295344 + Missense_Mutation SNP A A T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:186295344A>T ENST00000367478.3 - 41 6209 c.5913T>A c.(5911-5913)gaT>gaA p.D1971E NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1971 Poly-Asp. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.D1971E(2)|p.D1958E(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) catcatcatcatcttcctcat 0.423000 T NTRK1 papillary thyroid 27 49 0 0 0.667858 0 0 SNHG14 0 broad.mit.edu 37 15 25326355 25326355 + RNA SNP T T G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr15:25326355T>G ENST00000546682.1 + 0 55 SNHG14_ENST00000549804.2_RNA NR_003361.1 CCAGAGGCTGTTGGGATCCTC 0.507000 11 40 0 0 0.624587 0 0 GPATCH1 55094 broad.mit.edu 37 19 33603475 33603475 + Missense_Mutation SNP C C A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr19:33603475C>A ENST00000170564.2 + 13 2162 c.1848C>A c.(1846-1848)gaC>gaA p.D616E NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 616 catalytic step 2 spliceosome nucleic acid binding p.D616E(1) breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GGCACCCTGACAAGCTTCTAT 0.413000 44 85 7.05121e-23 8.7869e-23 0.853193 1 0 SYK 6850 broad.mit.edu 37 9 93637062 93637062 + Missense_Mutation SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr9:93637062C>T ENST00000375754.4 + 9 1260 c.1112C>T c.(1111-1113)aCg>aTg p.T371M SYK_ENST00000375747.1_Missense_Mutation_p.T348M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375746.1_Missense_Mutation_p.T371M NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 371 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity p.T348M(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AAGCTGCTGACGCTGGAAGAC 0.522000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 13 315 0 0 0.479597 0 0 ZNF223 7766 broad.mit.edu 37 19 44564709 44564709 + Silent SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr19:44564709G>A ENST00000591793.1 + 5 530 c.447G>A c.(445-447)gaG>gaA p.E149E ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Silent_p.E39E|ZNF223_ENST00000434772.3_Silent_p.E39E Q9UK11 ZN223_HUMAN zinc finger protein 223 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E39E(1) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TGATGCTGGAGAACTTCAGGA 0.532000 97 191 0 0 0.870114 0 0 STAT4 6775 broad.mit.edu 37 2 191922752 191922752 + Nonsense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr2:191922752G>A ENST00000392320.2 - 13 1512 c.1198C>T c.(1198-1200)Cga>Tga p.R400* STAT4_ENST00000358470.4_Nonsense_Mutation_p.R400* NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 400 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.R400*(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) ACCAAATGTCGAAATTCTACT 0.363000 45 78 0 0 0.859065 0 0 MTUS2 23281 broad.mit.edu 37 13 29599666 29599666 + Silent SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr13:29599666C>T ENST00000431530.3 + 1 919 c.861C>T c.(859-861)tcC>tcT p.S287S NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 277 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.S287S(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CATCACATTCCGCCCATCCAG 0.517000 12 23 0 0 0.387290 0 0 CCNF 899 broad.mit.edu 37 16 2506607 2506607 + Silent SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr16:2506607C>T ENST00000397066.4 + 17 2035 c.1947C>T c.(1945-1947)tgC>tgT p.C649C RP11-715J22.4_ENST00000566085.1_lincRNA NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 649 PEST. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding p.C649C(3) breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) AACAGCATTGCTGCCAGGAAT 0.607000 25 42 0 0 0.693898 0 0 PCDHB5 0 broad.mit.edu 37 5 140515710 140515710 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr5:140515710G>A ENST00000231134.5 + 1 911 c.694G>A c.(694-696)Gtc>Atc p.V232I NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 232 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.V232I(1) 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) TCGCATTGTCGTCTTGGATAA 0.552000 33 433 0 0 0.740014 0 0 NEK1 4750 broad.mit.edu 37 4 170458976 170458976 + Missense_Mutation SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr4:170458976C>T ENST00000439128.2 - 18 2289 c.1649G>A c.(1648-1650)cGa>cAa p.R550Q NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 550 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R550Q(2) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCCTTCGGCTCGAGCTTTATT 0.383000 11 503 0 0 0.361761 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090481 115090481 + Silent SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr13:115090481G>A ENST00000361283.1 + 3 1473 c.1164G>A c.(1162-1164)gaG>gaA p.E388E NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 388 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding p.E388E(1) CATCTCCTGAGTCATGGAAGT 0.542000 13 231 0 0 0.411799 0 0 FLG 2312 broad.mit.edu 37 1 152284306 152284306 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:152284306G>A ENST00000368799.1 - 3 3091 c.3056C>T c.(3055-3057)gCg>gTg p.A1019V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1019 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.A1019V(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGATGACGCAGCCTGTCC 0.582000 Ichthyosis 288 577 0 0 0.870114 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 115 0 0 0.184627 0 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr18:14542693C>T ENST00000358970.5 - 1 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTCTGGGGACCTTACCCCACC 0.592000 5 241 0 0 0.307466 0 0 PDE8B 8622 broad.mit.edu 37 5 76709105 76709105 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr5:76709105G>A ENST00000264917.5 + 17 1927 c.1882G>A c.(1882-1884)Gct>Act p.A628T PDE8B_ENST00000333194.4_Missense_Mutation_p.A573T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A93T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A581T|PDE8B_ENST00000346042.3_Missense_Mutation_p.A531T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A608T NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 628 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity p.A628T(1) GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GCACGCCACCGCTTTCTTTCT 0.473000 34 157 0 0 0.804634 0 0 TNIP3 79931 broad.mit.edu 37 4 122063932 122063932 + Splice_Site SNP C C A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr4:122063932C>A ENST00000454328.1 - 10 963 c.e10-1 TNIP3_ENST00000509841.1_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 p.?(1) NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 AAGCTTTTATCTAAAGACAAA 0.338000 34 163 2.47316e-13 2.94597e-13 0.779181 1 0 OR52R1 119695 broad.mit.edu 37 11 4825344 4825344 + Missense_Mutation SNP C C A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr11:4825344C>A ENST00000380382.1 - 1 503 c.504G>T c.(502-504)tgG>tgT p.W168C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.W89C Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W168C(1)|p.W88C(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGCATGAAACCAGAATATGG 0.527000 31 56 3.99451e-17 4.90235e-17 0.740014 1 0 HNF1A 6927 broad.mit.edu 37 12 121437365 121437365 + Missense_Mutation SNP C C T rs144674840 TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr12:121437365C>T ENST00000257555.6 + 9 1929 c.1703C>T c.(1702-1704)cCc>cTc p.P568L HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L|HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L P20823 HNF1A_HUMAN HNF1 homeobox A 568 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.P568L(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCCACGTCCCCAGCCAGGAC 0.687000 Hepatic Adenoma, Familial Clustering of 14 15 0 0 0.457914 0 0 PCDHA3 0 broad.mit.edu 37 5 140180975 140180975 + Missense_Mutation SNP C C T TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr5:140180975C>T ENST00000522353.2 + 1 193 c.193C>T c.(193-195)Cgg>Tgg p.R65W PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCCTGTTCCGGGTGGCGTC 0.617000 5 231 0 0 0.184627 0 0 UBXN11 91544 broad.mit.edu 37 1 26608820 26608843 + In_Frame_Del DEL GGGACTGGGGCCGGGACCGGGACC GGGACTGGGGCCGGGACCGGGACC - rs66614970 by1000genomes TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC ENST00000314675.7 - 11 1229_1252 c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC c.(1150-1173)del p.GPGPGPSP384del UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 504 cytoplasm|cytoskeleton p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gtccaggacagggactggggccgggaccgggaccgggactgggg 0.714 9 63 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) 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) AGATAGTGGCAGGGAAATTTTT 0.391 10 197 --- --- --- --- FAM53C 51307 broad.mit.edu 37 5 137680780 137680781 + Frame_Shift_Ins INS - - G TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr5:137680780_137680781insG ENST00000239906.5 + 4 831_832 c.403_404insG c.(403-405)gccfs p.A135fs FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 135 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) GCCGGTGTGGCGGCCCGCCCCC 0.683 10 178 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr6:100382358delA ENST00000281806.2 - 5 937 c.623delT c.(622-624)tcfs p.F208fs MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GGGTAGAGGGAAAAAAAAAGT 0.343 7 198 --- --- --- --- ODF1 4956 broad.mit.edu 37 8 103572984 103572992 + In_Frame_Del DEL TGCAGCCCC TGCAGCCCC - rs3018444 byFrequency TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr8:103572984_103572992delTGCAGCCCC ENST00000285402.3 + 2 781_789 c.625_633delTGCAGCCCC c.(625-633)del p.CSP215del ODF1_ENST00000518835.1_Splice_Site_p.3_splice NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 215 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CACTTCTCCTtgcagcccctgcagcccct 0.584 17 102 --- --- --- --- RP11-452N4.1 0 broad.mit.edu 37 8 136268296 136268297 + RNA INS - - T rs59901276 TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr8:136268296_136268297insT ENST00000522279.1 + 0 384 NR_026706.1 CCtttttttcctttttttttgc 0.426 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 4 7 --- --- --- --- ESCO1 114799 broad.mit.edu 37 18 19153404 19153406 + In_Frame_Del DEL ATC ATC - TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23762450-360d-4930-b53b-611e0041327a 8994a220-e271-46ea-b68f-28388545c317 g.chr18:19153404_19153406delATC ENST00000269214.5 - 4 2336_2338 c.1399_1401delGAT c.(1399-1401)del p.D467del NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 467 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 CTACTGTAATATCATTAATTTTC 0.330 57 126 --- --- --- ---