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 ZNF547 284306 broad.mit.edu 37 19 57888495 57888495 + Splice_Site SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:57888495G>A ENST00000282282.3 + 4 301 c.e4-1 AC003002.4_ENST00000597658.1_Intron NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TATTCTTACAGGTTGTTGCCA 0.493000 36 26 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014785 53014785 + Nonsense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:53014785C>G ENST00000421239.2 + 6 1395 c.1151C>G c.(1150-1152)tCa>tGa p.S384* CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GGTCAAAATTCAACCCTTGTA 0.378000 52 92 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42863318 42863318 + Silent SNP G G A rs139648725 byFrequency TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:42863318G>A ENST00000334370.4 + 30 5846 c.5211G>A c.(5209-5211)tcG>tcA p.S1737S MEGF8_ENST00000251268.6_Silent_p.S1804S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1804 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGGGGCGCTCGGACCCTGACG 0.652000 4 18 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8242634 8242634 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:8242634G>A ENST00000539824.1 + 18 4109 c.3735G>A c.(3733-3735)ctG>ctA p.L1245L SH3TC1_ENST00000245105.3_Silent_p.L1321L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1321 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TGCCTCCTCTGCCACTCTGCG 0.632000 19 31 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671790 176671790 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:176671790C>A ENST00000367662.3 + 9 4448 c.3284C>A c.(3283-3285)gCt>gAt p.A1095D NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1095 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTAGCTGAAGCTGGAGGAGAA 0.502000 19 40 2.94398e-08 3.29033e-08 1 1 0 COA6 388753 broad.mit.edu 37 1 234509333 234509333 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:234509333C>G ENST00000366615.4 + 1 132 c.121C>G c.(121-123)Cgg>Ggg p.R41G RP5-827C21.4_ENST00000451795.1_RNA NM_001206641.1 NP_001193570.1 cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) TGGCAGGACTCGGCACCGCGC 0.657000 5 27 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723741 142723741 + Missense_Mutation SNP A A C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:142723741A>C ENST00000350513.2 - 1 541 c.479T>G c.(478-480)tTt>tGt p.F160C NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) GGTAAACTGAAATGTGGCATA 0.408000 40 63 0 0 1 0 0 SUV39H1 6839 broad.mit.edu 37 X 48558638 48558638 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:48558638C>A ENST00000453214.2 + 3 349 c.134C>A c.(133-135)cCg>cAg p.P45Q SUV39H1_ENST00000337852.6_Silent_p.R119R|SUV39H1_ENST00000376687.3_Silent_p.R108R|AF196970.3_ENST00000416061.1_RNA O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 (Drosophila) 0 Chromo.|Interaction with SIRT1. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 AAAGACCCCCCGGCACCTGGA 0.627000 3 2 0.004672 0.00478211 1 1 0 COPA 1314 broad.mit.edu 37 1 160264384 160264384 + Splice_Site SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:160264384C>G ENST00000241704.7 - 25 2796 c.e25-1 COPA_ENST00000368069.3_Splice_Site NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACAAACCCATCTGTAAGGAAA 0.473000 38 86 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32157571 32157571 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:32157571C>G ENST00000375050.4 - 1 392 c.122G>C c.(121-123)aGc>aCc p.S41T NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 41 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GACCCCCCCGCTACCCCCACC 0.726000 5 13 0 0 1 0 0 CPNE3 8895 broad.mit.edu 37 8 87552510 87552510 + Missense_Mutation SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:87552510T>C ENST00000521271.1 + 8 743 c.581T>C c.(580-582)tTc>tCc p.F194S CPNE3_ENST00000198765.4_Missense_Mutation_p.F194S NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 194 C2 2. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 TGGAGGCCTTTCAAGATCTCT 0.308000 15 195 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19627440 19627440 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:19627440G>C ENST00000438132.3 + 13 1343 c.1295G>C c.(1294-1296)gGa>gCa p.G432A C16orf62_ENST00000251143.5_Missense_Mutation_p.G343A|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000543152.1_Missense_Mutation_p.G92A|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000448695.1_Missense_Mutation_p.G193A NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 343 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CTGCAGGTGGGAATGGAAGTG 0.338000 4 85 0 0 1 0 0 VSX1 30813 broad.mit.edu 37 20 25059384 25059384 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:25059384G>A ENST00000376707.3 - 3 742 c.708C>T c.(706-708)gtC>gtT p.V236V VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron NM_199425.2 NP_955457.1 Q9NZR4 VSX1_HUMAN visual system homeobox 1 0 CVC. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 ATAGAGAAGGGACTGCTGATT 0.522000 15 191 0 0 1 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18832198 18832198 + Silent SNP C C A rs144184970 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:18832198C>A ENST00000268835.2 + 11 1162 c.879C>A c.(877-879)atC>atA p.I293I PRPSAP2_ENST00000419071.2_Silent_p.I253I|PRPSAP2_ENST00000536323.1_Silent_p.I207I|PRPSAP2_ENST00000542013.1_Intron NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 293 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 CATATAAGATCTTTGTGATGG 0.488000 11 126 4.68919e-08 5.2026e-08 1 1 0 ATP6AP1 537 broad.mit.edu 37 X 153660652 153660652 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:153660652C>G ENST00000369762.2 + 4 465 c.404C>G c.(403-405)gCc>gGc p.A135G ATP6AP1_ENST00000484908.1_3'UTR NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 135 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGCTTCCTGCCGTCGACTGG 0.652000 OREG0003605 type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 38 2 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99026737 99026737 + Missense_Mutation SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:99026737A>T ENST00000292478.4 - 5 1154 c.904T>A c.(904-906)Tac>Aac p.Y302N PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Y351N|PTCD1_ENST00000555673.1_Missense_Mutation_p.Y351N NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGGAGGGCGTACCGGAAGCCT 0.597000 24 68 0 0 1 0 0 SSBP1 6742 broad.mit.edu 37 7 141441975 141441975 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:141441975C>T ENST00000481508.1 + 3 466 c.31C>T c.(31-33)Cgt>Tgt p.R11C SSBP1_ENST00000265304.6_Missense_Mutation_p.R11C|SSBP1_ENST00000465582.1_Missense_Mutation_p.R11C|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.R11C|SSBP1_ENST00000498107.1_Missense_Mutation_p.R11C NM_001256510.1 NP_001243439.1 Q04837 SSBP_HUMAN single-stranded DNA binding protein 1, mitochondrial 11 DNA replication|positive regulation of helicase activity mitochondrial nucleoid single-stranded DNA binding large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1) 7 Melanoma(164;0.0171) TTAGGTACTTCGTCAGTTTGT 0.318000 9 47 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66838229 66838229 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:66838229G>A ENST00000423207.2 + 15 2519 c.2034G>A c.(2032-2034)gaG>gaA p.E678E PDE4B_ENST00000329654.4_Silent_p.E693E|PDE4B_ENST00000371045.5_Silent_p.E521E|PDE4B_ENST00000480109.2_Silent_p.E460E|PDE4B_ENST00000371049.3_Silent_p.E693E NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 693 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AAGGACCTGAGAAGGAGGGAG 0.498000 4 25 0 0 1 0 0 ARIH1 25820 broad.mit.edu 37 15 72875563 72875563 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:72875563G>T ENST00000379887.4 + 14 1918 c.1604G>T c.(1603-1605)cGa>cTa p.R535L ARIH1_ENST00000562891.1_3'UTR NM_005744.3 NP_005735.2 Q9Y4X5 ARI1_HUMAN ariadne RBR E3 ubiquitin protein ligase 1 535 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 TGTGAGAGTCGACGAAGGGTT 0.363000 11 61 1.58986e-06 1.72e-06 1 1 0 NOL12 79159 broad.mit.edu 37 22 38086741 38086741 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:38086741C>A ENST00000359114.4 + 5 489 c.419C>A c.(418-420)tCc>tAc p.S140Y NOL12_ENST00000493862.1_3'UTR NM_024313.2 NP_077289.1 Q9UGY1 NOL12_HUMAN nucleolar protein 12 140 nucleolus rRNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 8 Melanoma(58;0.0574) GAGGCGTCATCCACGGAGAAA 0.622000 5 118 0.00116845 0.00121438 1 1 0 CAAP1 79886 broad.mit.edu 37 9 26842304 26842304 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:26842304C>T ENST00000333916.5 - 6 1169 c.1081G>A c.(1081-1083)Gcc>Acc p.A361T CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.A216T NM_001167575.1|NM_024828.3 NP_001161047.1|NP_079104.3 Q9H8G2 CI082_HUMAN caspase activity and apoptosis inhibitor 1 361 AATACCTAGGCTGGCTTTTTT 0.348000 8 49 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101627259 101627259 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:101627259C>T ENST00000310954.6 - 2 693 c.407G>A c.(406-408)cGt>cAt p.R136H NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 136 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CATTTCATAACGCTTCTCAAC 0.333000 3 27 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77709310 77709310 + Nonsense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:77709310G>T ENST00000328313.5 + 3 1089 c.868G>T c.(868-870)Gaa>Taa p.E290* NM_178543.3 NP_848638.3 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 290 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCTCCCTAAAGAAGGGAGGCT 0.577000 12 51 0.000151284 0.000159412 1 1 0 ASAP3 55616 broad.mit.edu 37 1 23782402 23782402 + Missense_Mutation SNP C C T rs138253513 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:23782402C>T ENST00000336689.3 - 3 364 c.320G>A c.(319-321)cGc>cAc p.R107H ASAP3_ENST00000437606.2_Missense_Mutation_p.R107H NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 107 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 AGCAACCTCGCGGGTGAACAC 0.562000 27 40 0 0 1 0 0 AP3S2 10239 broad.mit.edu 37 15 90431785 90431785 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:90431785C>T ENST00000336418.4 - 3 633 c.241G>A c.(241-243)Gag>Aag p.E81K AP3S2_ENST00000558011.1_Missense_Mutation_p.E81K|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E282K|C15orf38-AP3S2_ENST00000560224.1_5'UTR|AP3S2_ENST00000560940.1_Missense_Mutation_p.E81K NM_005829.4 NP_005820.1 adaptor-related protein complex 3, sigma 2 subunit NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1) 6 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) AGTTCACTCTCTGAGGAATCC 0.448000 5 33 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79770263 79770263 + Silent SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:79770263T>C ENST00000372371.3 - 12 1745 c.1608A>G c.(1606-1608)gaA>gaG p.E536E NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 536 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CAATCAGCGGTTCCCCATTCC 0.458000 7 50 0 0 1 0 0 TFPI2 7980 broad.mit.edu 37 7 93516176 93516176 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:93516176G>A ENST00000222543.5 - 5 976 c.664C>T c.(664-666)Cgc>Tgc p.R222C TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron NM_001271003.1|NM_001271004.1|NM_006528.3 NP_001257932.1|NP_001257933.1|NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 222 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity p.R222C(1) endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTGGCAAAGCGAAGCTTTGGC 0.328000 14 134 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 33402568 33402568 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:33402568C>G ENST00000358763.2 - 2 322 c.80G>C c.(79-81)cGc>cCc p.R27P SYN3_ENST00000332840.5_Missense_Mutation_p.R27P NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 27 A. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GCTATCTGGGCGTTGCAGGTC 0.592000 43 68 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25430791 25430791 + RNA SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:25430791G>A ENST00000424208.1 + 0 582 SNORD115-9_ENST00000362912.1_RNA NR_003305.1 TCGATGATGAGAACCTTATAT 0.493000 18 194 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466877 56466877 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:56466877A>G ENST00000291971.3 + 3 1524 c.1453A>G c.(1453-1455)Acc>Gcc p.T485A NLRP8_ENST00000590542.1_Missense_Mutation_p.T485A NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 485 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GACGGGAGTCACCGCCTTCCT 0.498000 12 239 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39398113 39398113 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:39398113G>C ENST00000392079.3 + 5 785 c.687G>C c.(685-687)ctG>ctC p.L229L NFKBIB_ENST00000572515.1_Silent_p.L261L|NFKBIB_ENST00000313582.5_Silent_p.L261L Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 261 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AGCTTCTCCTGAGGGCAGGCG 0.692000 54 56 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40845507 40845507 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:40845507C>T ENST00000264638.4 + 18 3162 c.2945C>T c.(2944-2946)aCg>aTg p.T982M CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 982 EGF-like 2. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AGCTACTACACGTGTGACTGT 0.587000 11 99 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861706 55861706 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:55861706T>A ENST00000302124.2 + 1 954 c.923T>A c.(922-924)cTt>cAt p.L308H NM_001003750.1 NP_001003750.1 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CATAGAAAACTTTTTCCATGA 0.353000 9 9 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219513490 219513490 + Missense_Mutation SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:219513490T>C ENST00000411696.2 - 5 1920 c.1141A>G c.(1141-1143)Acc>Gcc p.T381A ZNF142_ENST00000449707.1_Missense_Mutation_p.T381A P52746 ZN142_HUMAN zinc finger protein 142 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGGTTGAAGGTGGCAAAGGGG 0.517000 OREG0015202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10363760 10363760 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:10363760G>A ENST00000377093.4 + 21 2670 c.2517G>A c.(2515-2517)atG>atA p.M839I KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.M839I|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AAAATAACATGAAAGACGAGG 0.403000 3 37 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103138329 103138329 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:103138329G>C ENST00000424685.2 - 55 9047 c.8888C>G c.(8887-8889)aCc>aGc p.T2963S RELN_ENST00000343529.5_Missense_Mutation_p.T2963S|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.T2963S P78509 RELN_HUMAN reelin 2963 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGGCAAGAGGTCATGTTGTT 0.488000 14 39 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118978727 118978727 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:118978727C>G ENST00000336702.3 + 1 635 c.276C>G c.(274-276)ctC>ctG p.L92L DPAGT1_ENST00000409993.2_5'UTR NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 92 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 TGGCGTCACTCTTCGCCTTCA 0.701000 6 23 0 0 1 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866409 140866409 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140866409G>T ENST00000306593.1 + 1 1669 c.1669G>T c.(1669-1671)Gac>Tac p.D557Y PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTGTGCTGGACCTCAATGA 0.572000 26 56 1.66031e-10 1.89393e-10 1 1 0 HNMT 3176 broad.mit.edu 37 2 138759687 138759687 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:138759687G>A ENST00000280097.3 + 4 534 c.352G>A c.(352-354)Gag>Aag p.E118K HNMT_ENST00000410115.1_Missense_Mutation_p.E118K|HNMT_ENST00000485653.1_3'UTR NM_006895.2 NP_008826.1 P50135 HNMT_HUMAN histamine N-methyltransferase 118 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) TTGGCATAAGGAGACATCATC 0.343000 15 57 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283312 5283312 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:5283312C>T ENST00000546004.1 - 3 775 c.529G>A c.(529-531)Gtc>Atc p.V177I PROKR2_ENST00000217270.3_Missense_Mutation_p.V177I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 177 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ACCATCCAGACCAAGGCGATC 0.502000 HNSCC(71;0.22) 35 107 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1686043 1686043 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:1686043C>T ENST00000344463.4 - 10 1439 c.1218G>A c.(1216-1218)gaG>gaA p.E406E NADK_ENST00000341426.5_Silent_p.E261E|NADK_ENST00000341991.3_Silent_p.E261E|NADK_ENST00000378625.1_Silent_p.E406E|NADK_ENST00000342348.5_Silent_p.E229E O95544 NADK_HUMAN NAD kinase 261 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GCGAGCCGTTCTCACCCAGCC 0.657000 23 29 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74936591 74936591 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:74936591C>G ENST00000569840.2 + 14 2266 c.1692C>G c.(1690-1692)ctC>ctG p.L564L MGAT5B_ENST00000301618.4_Silent_p.L562L|MGAT5B_ENST00000428789.2_Silent_p.L573L NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 564 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACAGCTCCCTCAACCACGAGT 0.657000 11 71 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134006279 134006279 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:134006279C>A ENST00000338492.4 + 3 410 c.246C>A c.(244-246)ggC>ggA p.G82G DPYSL4_ENST00000368627.1_Silent_p.G5G|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_Silent_p.G5G NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 82 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CTGTCCTGGGCATGACACCGG 0.612000 44 17 1.06522e-23 1.2979e-23 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45817685 45817685 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:45817685C>T ENST00000397928.1 + 13 2433 c.1988C>T c.(1987-1989)tCc>tTc p.S663F TRPM2_ENST00000300482.5_Missense_Mutation_p.S663F|TRPM2_ENST00000300481.9_Missense_Mutation_p.S643F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.S663F NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 663 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AAGGAACTGTCCAAGGAGGAG 0.632000 6 41 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043301 56043301 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:56043301G>A ENST00000313033.2 + 1 273 c.187G>A c.(187-189)Ggg>Agg p.G63R NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) ACCGATCATTGGGGATTTCTG 0.363000 45 36 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75873960 75873960 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:75873960G>T ENST00000211998.4 + 20 3062 c.2968G>T c.(2968-2970)Gca>Tca p.A990S VCL_ENST00000417648.2_Missense_Mutation_p.A183S|VCL_ENST00000372755.3_Missense_Mutation_p.A922S NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 990 C-terminal tail. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) CATCATTGCAGCAGCCAAGCG 0.557000 40 10 1.30475e-32 1.63228e-32 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32639158 32639158 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:32639158G>A ENST00000286827.3 - 5 602 c.131C>T c.(130-132)tCg>tTg p.S44L TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S44L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 44 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CACCTTCCCCGAGGAAGCGTG 0.627000 5 53 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468521 35468521 + Missense_Mutation SNP A A C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:35468521A>C ENST00000608209.1 + 2 1536 c.1024A>C c.(1024-1026)Agc>Cgc p.S342R AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.S342R NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 GGTGTGTGGAAGCAGAGCTGG 0.483000 86 74 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 310988 310988 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:310988G>A ENST00000428720.1 - 6 1261 c.518C>T c.(517-519)tCa>tTa p.S173L SLC6A12_ENST00000397296.2_Missense_Mutation_p.S173L|SLC6A12_ENST00000538272.1_Intron|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S173L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S173L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S173L NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 173 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCCGGCTCCTGAGTGGTTCAG 0.517000 15 61 0 0 1 0 0 SKA1 220134 broad.mit.edu 37 18 47917614 47917614 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:47917614C>T ENST00000285116.3 + 6 781 c.570C>T c.(568-570)acC>acT p.T190T SKA1_ENST00000398452.2_Silent_p.T190T|SKA1_ENST00000488454.1_Silent_p.T39T|SKA1_ENST00000417656.2_Silent_p.T144T NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 190 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 ATTCTGTGACCAGAAATCTCT 0.308000 16 51 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57938114 57938114 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr14:57938114C>G ENST00000216445.3 - 6 986 c.850G>C c.(850-852)Gag>Cag p.E284Q C14orf105_ENST00000534126.1_Missense_Mutation_p.E283Q|C14orf105_ENST00000422976.2_Missense_Mutation_p.E324Q NM_001283057.1|NM_018168.2 NP_001269986.1|NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 284 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 GGGATTCTCTCTGTCCTGGTC 0.443000 17 35 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723365 21723365 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:21723365C>T ENST00000399496.3 + 3 352 c.187C>T c.(187-189)Cat>Tat p.H63Y CABYR_ENST00000581397.1_Missense_Mutation_p.H63Y|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.H63Y|CABYR_ENST00000415309.2_Missense_Mutation_p.H63Y|CABYR_ENST00000327201.6_Intron NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 63 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TAAACAATTTCATCAGATTAA 0.274000 6 33 0 0 1 0 0 SLC41A2 84102 broad.mit.edu 37 12 105198989 105198989 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:105198989C>G ENST00000258538.3 - 10 1790 c.1663G>C c.(1663-1665)Gcc>Ccc p.A555P SLC41A2_ENST00000549713.1_5'UTR NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 555 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 AAACTTAAGGCTAACAGAGCT 0.438000 100 178 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158925121 158925121 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:158925121G>A ENST00000367097.3 + 13 5783 c.4426G>A c.(4426-4428)Gag>Aag p.E1476K TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1476 TUB. intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCTGTGGAACGAGGCCACCCA 0.647000 3 8 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103055237 103055237 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:103055237C>A ENST00000262457.2 + 14 2883 c.2698C>A c.(2698-2700)Ctg>Atg p.L900M INVS_ENST00000541287.1_Missense_Mutation_p.L804M|INVS_ENST00000262456.2_Missense_Mutation_p.L730M NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 900 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) AGAGCTCCGACTGCAGATAAT 0.532000 22 10 4.35082e-09 4.88964e-09 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124911244 124911244 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:124911244C>G ENST00000356219.3 - 12 1407 c.1252G>C c.(1252-1254)Gac>Cac p.D418H NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.D418H|NCOR2_ENST00000405201.1_Missense_Mutation_p.D418H|NCOR2_ENST00000404621.1_Missense_Mutation_p.D417H|NCOR2_ENST00000429285.2_Missense_Mutation_p.D417H NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 418 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTCATGGGGTCGGCCATAAGC 0.582000 26 39 0 0 1 0 0 LCE2D 353141 broad.mit.edu 37 1 152636813 152636813 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:152636813C>T ENST00000368784.1 + 2 287 c.232C>T c.(232-234)Ccc>Tcc p.P78S NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 78 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCACCACAGGCCCCGTCTCTT 0.682000 81 99 0 0 1 0 0 SCRN3 79634 broad.mit.edu 37 2 175265723 175265723 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:175265723G>T ENST00000272732.6 + 4 429 c.347G>T c.(346-348)gGc>gTc p.G116V SCRN3_ENST00000409673.3_Missense_Mutation_p.G109V NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 116 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) TTTAGACTTGGCCTTGAAAGA 0.303000 10 19 7.48243e-07 8.18222e-07 1 1 0 PRR16 51334 broad.mit.edu 37 5 120021828 120021828 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:120021828C>A ENST00000379551.2 + 3 627 c.270C>A c.(268-270)atC>atA p.I90I PRR16_ENST00000446965.1_Silent_p.I43I|PRR16_ENST00000505123.1_Silent_p.I43I|PRR16_ENST00000407149.2_Silent_p.I113I NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 113 p.I90I(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CGTCTGCTATCCTCACGGTCC 0.527000 8 53 5.18039e-06 5.59445e-06 1 1 0 NOM1 64434 broad.mit.edu 37 7 156746840 156746840 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:156746840G>A ENST00000275820.3 + 3 1171 c.1156G>A c.(1156-1158)Gaa>Aaa p.E386K NOM1_ENST00000460332.1_3'UTR NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 386 MIF4G. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GCAGCTGGAGGAACTGTACAT 0.512000 5 40 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 871052 871052 + Silent SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:871052A>G ENST00000316157.3 - 12 1477 c.1437T>C c.(1435-1437)cgT>cgC p.R479R NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 479 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CTGGCTCCACACGCCCAGGCC 0.468000 7 161 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62491413 62491413 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:62491413C>A ENST00000301785.5 - 3 916 c.724G>T c.(724-726)Gat>Tat p.D242Y HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.D242Y NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 242 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGAGTTTGATCCTCCTCCTCA 0.378000 122 170 5.18985e-55 6.58753e-55 1 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433738 73433738 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:73433738G>T ENST00000263666.4 - 10 2093 c.1979C>A c.(1978-1980)aCc>aAc p.T660N PDZRN3_ENST00000466780.1_Missense_Mutation_p.T317N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T377N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T317N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T382N NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 660 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCCGTAAGGGGTGGCGCTCTT 0.667000 18 33 9.7654e-05 0.000103438 1 1 0 ZKSCAN8 7745 broad.mit.edu 37 6 28120851 28120851 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:28120851G>C ENST00000330236.6 + 6 977 c.793G>C c.(793-795)Gag>Cag p.E265Q ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E265Q NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 GACCAGGAGTGAGAACAGGGA 0.423000 16 34 0 0 1 0 0 FBXO22 26263 broad.mit.edu 37 15 76206478 76206478 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:76206478C>T ENST00000308275.3 + 4 500 c.395C>T c.(394-396)gCa>gTa p.A132V FBXO22_ENST00000453211.2_Missense_Mutation_p.A132V|FBXO22_ENST00000540507.1_Missense_Mutation_p.A28V NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 132 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 ATGGAAACAGCACTTGCCCTT 0.353000 11 61 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676907 100676907 + Missense_Mutation SNP T T G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:100676907T>G ENST00000306151.4 + 3 2274 c.2210T>G c.(2209-2211)aTg>aGg p.M737R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 737 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGTGCCAGTATGCCAACCTCA 0.498000 119 132 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506013 44506013 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:44506013C>T ENST00000255152.2 + 2 1025 c.816C>T c.(814-816)ttC>ttT p.F272F ZSWIM3_ENST00000454862.2_Silent_p.F266F NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 272 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) TCACAGAGTTCAACTCCGATT 0.532000 11 104 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23408853 23408853 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:23408853C>T ENST00000400181.4 + 20 2543 c.2439C>T c.(2437-2439)gcC>gcT p.A813A KDM1A_ENST00000356634.3_Silent_p.A789A|KDM1A_ENST00000542151.1_Silent_p.A813A|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 789 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TTCCAGGTGCCCCACAGGTGA 0.463000 15 17 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72159890 72159890 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:72159890C>T ENST00000537465.1 - 15 2403 c.2245G>A c.(2245-2247)Gac>Aac p.D749N PMFBP1_ENST00000355636.6_Missense_Mutation_p.D599N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D744N Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 749 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TGTGTCAGGTCATCCTGGCAG 0.552000 20 111 0 0 1 0 0 SENP8 123228 broad.mit.edu 37 15 72432397 72432397 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:72432397G>A ENST00000544411.1 + 3 920 c.433G>A c.(433-435)Gac>Aac p.D145N SENP8_ENST00000340912.4_Missense_Mutation_p.D145N|SENP8_ENST00000544171.1_Missense_Mutation_p.D145N|SENP8_ENST00000542035.2_Missense_Mutation_p.D145N NM_001172109.1|NM_001172110.1 NP_001165580.1|NP_001165581.1 Q96LD8 SENP8_HUMAN SUMO/sentrin specific peptidase family member 8 145 Protease. proteolysis cysteine-type peptidase activity|protein binding breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1) 6 CAGAAAAGGAGACAAACTGGC 0.443000 42 33 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2279640 2279640 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:2279640C>T ENST00000301727.4 + 3 427 c.379C>T c.(379-381)Ctg>Ttg p.L127L E4F1_ENST00000565090.1_Silent_p.L127L|E4F1_ENST00000564139.1_Silent_p.L127L NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 127 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GGCGGCCTCTCTGGCAGCAGA 0.622000 16 112 0 0 1 0 0 KLHL35 283212 broad.mit.edu 37 11 75139638 75139638 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:75139638G>A ENST00000539798.1 - 2 914 c.915C>T c.(913-915)atC>atT p.I305I KLHL35_ENST00000376292.4_Silent_p.I85I NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 85 lung(2)|stomach(1) 3 CGCAACCGCCGATGACCACGA 0.627000 3 32 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23706103 23706103 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:23706103G>C ENST00000256797.4 - 17 2358 c.2190C>G c.(2188-2190)ggC>ggG p.G730G ERN2_ENST00000457008.2_Silent_p.G630G NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 682 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGCCTTCCGTGCCGGGGATGC 0.647000 10 19 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32207341 32207341 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:32207341G>C ENST00000492345.1 + 6 1064 c.379G>C c.(379-381)Gag>Cag p.E127Q CBFA2T2_ENST00000359606.3_Missense_Mutation_p.E166Q|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.E156Q|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.E147Q|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.E156Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.E127Q|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.E127Q|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.E127Q O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 156 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 AGTGACAATTGAGGAATTCCA 0.328000 7 105 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31917909 31917909 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:31917909C>A ENST00000456570.1 + 23 3052 c.2997C>A c.(2995-2997)gcC>gcA p.A999A CFB_ENST00000477310.1_Silent_p.A848A|CFB_ENST00000556679.1_Silent_p.A999A|CFB_ENST00000425368.2_Silent_p.A497A P00751 CFAB_HUMAN complement factor B 497 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CATGGCAGGCCAAGATCTCAG 0.502000 31 24 3.1745e-13 3.70459e-13 1 1 0 DMTN 2039 broad.mit.edu 37 8 21938666 21938666 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:21938666A>G ENST00000358242.3 + 15 1559 c.1066A>G c.(1066-1068)Acc>Gcc p.T356A DMTN_ENST00000519907.1_Missense_Mutation_p.T334A|DMTN_ENST00000415253.1_Missense_Mutation_p.T334A|DMTN_ENST00000381470.3_Missense_Mutation_p.T334A|DMTN_ENST00000432128.1_Missense_Mutation_p.T356A|DMTN_ENST00000523782.2_Missense_Mutation_p.T309A|DMTN_ENST00000265800.5_Missense_Mutation_p.T356A|DMTN_ENST00000443491.2_Missense_Mutation_p.T309A|DMTN_ENST00000523266.1_Missense_Mutation_p.T356A|DMTN_ENST00000517600.1_Missense_Mutation_p.T316A dematin actin binding protein CAAGGGGCGAACCAAGCTGCC 0.612000 20 13 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60073664 60073664 + Missense_Mutation SNP C C A rs62000397 byFrequency TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:60073664C>A ENST00000355131.3 + 7 804 c.581C>A c.(580-582)aCc>aAc p.T194N MS4A4A_ENST00000337908.4_Missense_Mutation_p.T213N|MS4A4A_ENST00000532114.1_Missense_Mutation_p.T160N|MS4A4A_ENST00000395016.3_Missense_Mutation_p.T194N NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 213 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 CTCTGTTGTACCCCTGGTGGG 0.453000 42 39 3.4345e-17 4.1025e-17 1 1 0 PHOSPHO2 493911 broad.mit.edu 37 2 170557671 170557671 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:170557671G>A ENST00000359744.3 + 4 578 c.190G>A c.(190-192)Gaa>Aaa p.E64K KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1 NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 64 metal ion binding|pyridoxal phosphatase activity breast(1)|large_intestine(1)|lung(6)|skin(2) 10 AAGAGAACATGAAATGAAAAG 0.358000 12 99 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235599104 235599104 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:235599104C>G ENST00000543662.1 + 10 1041 c.935C>G c.(934-936)tCt>tGt p.S312C TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S261C|TBCE_ENST00000366601.3_Missense_Mutation_p.S261C Q15813 TBCE_HUMAN tubulin folding cofactor E 261 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) GATCTTTCCTCTAATCAATTA 0.353000 7 146 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19701739 19701739 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:19701739C>T ENST00000328041.6 + 17 2087 c.1890C>T c.(1888-1890)ttC>ttT p.F630F NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 630 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGACTGAGTTCAACGTGTTCA 0.577000 15 285 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85722828 85722828 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:85722828G>A ENST00000322366.6 - 17 3204 c.2797C>T c.(2797-2799)Cag>Tag p.Q933* WDFY3_ENST00000295888.4_Nonsense_Mutation_p.Q933* Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 933 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCAGAGCCTGAGAGGCTAAT 0.483000 7 49 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867692 7867692 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:7867692C>G ENST00000264669.5 - 2 641 c.505G>C c.(505-507)Gag>Cag p.E169Q FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 169 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.E169Q(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGTGAGGGCTCCTTTTCAAAC 0.433000 33 120 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77979715 77979715 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:77979715G>A ENST00000237654.4 - 3 764 c.188C>T c.(187-189)cCa>cTa p.P63L CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Missense_Mutation_p.P49L NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 63 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 AAATGTTTCTGGGTAAAGGTT 0.368000 22 55 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134967269 134967269 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:134967269C>T ENST00000398015.3 + 14 2978 c.2608C>T c.(2608-2610)Cgg>Tgg p.R870W EPHB1_ENST00000493838.1_Missense_Mutation_p.R431W NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 870 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CAGCCGGCCCCGGTTTGCGGA 0.587000 26 26 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6243699 6243699 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:6243699G>A ENST00000265978.4 - 6 1522 c.1164C>T c.(1162-1164)ctC>ctT p.L388L FAM160A2_ENST00000449352.2_Silent_p.L388L|FAM160A2_ENST00000524416.1_Silent_p.L388L NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 388 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TACGAGCAACGAGGGTGTCGA 0.537000 12 50 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55439686 55439686 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:55439686C>G ENST00000341048.4 - 7 705 c.554G>C c.(553-555)gGg>gCg p.G185A ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000513241.2_Missense_Mutation_p.G156A NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 184 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GGGGTCTGCCCCCTTCTTCAG 0.517000 106 153 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196738395 196738395 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:196738395G>C ENST00000312428.6 - 39 6410 c.6310C>G c.(6310-6312)Cct>Gct p.P2104A NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2104 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATGTATCGAGGAGTTACTGGA 0.274000 5 65 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21076330 21076330 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:21076330C>A ENST00000375003.2 - 6 2071 c.571G>T c.(571-573)Gaa>Taa p.E191* HP1BP3_ENST00000312239.5_Nonsense_Mutation_p.E343* Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 343 H15 1. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) ATTGCATATTCCATCAGGCTT 0.483000 4 76 0.00909568 0.00926327 1 1 0 GANAB 23193 broad.mit.edu 37 11 62400085 62400085 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:62400085G>A ENST00000346178.4 - 10 1029 c.1014C>T c.(1012-1014)ctC>ctT p.L338L GANAB_ENST00000540933.1_Silent_p.L219L|GANAB_ENST00000534779.1_Silent_p.L224L|GANAB_ENST00000356638.3_Silent_p.L316L NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 316 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 CTGCAGCATTGAGCCAGAAGA 0.542000 25 371 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53517884 53517884 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:53517884C>A ENST00000301466.3 + 15 1606 c.1546C>A c.(1546-1548)Cga>Aga p.R516R NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 516 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 GGTGACACCTCGATCTTGGTC 0.547000 9 84 9.31168e-06 1.00381e-05 1 1 0 CHRD 8646 broad.mit.edu 37 3 184100206 184100206 + Translation_Start_Site SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:184100206G>A ENST00000545352.1 + 0 159 CHRD_ENST00000348986.3_Silent_p.R243R|CHRD_ENST00000450923.1_Silent_p.R243R|CHRD_ENST00000204604.1_Silent_p.R243R|EIF2B5_ENST00000444495.1_Intron Q9H2X0 CHRD_HUMAN chordin BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGTGCCTCGGTTGTCTCTGC 0.622000 98 92 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35062088 35062088 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:35062088G>A ENST00000358901.6 - 9 1888 c.993C>T c.(991-993)ctC>ctT p.L331L NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 331 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGCCATCCATGAGGGTCAACA 0.537000 12 56 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869344 36869344 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:36869344C>A ENST00000279024.4 - 3 1460 c.1189G>T c.(1189-1191)Gcc>Tcc p.A397S NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 397 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) ATCTTGGAGGCAGCTGGCTCT 0.592000 75 148 1.38705e-31 1.72813e-31 1 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49967484 49967484 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:49967484G>A ENST00000293350.4 + 10 1458 c.1295G>A c.(1294-1296)aGc>aAc p.S432N ALDH16A1_ENST00000433981.2_Missense_Mutation_p.S267N|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.S269N|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.S381N|CTD-3148I10.9_ENST00000599536.1_Intron NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 432 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) AGTGTGTGGAGCGAGAGGCTG 0.682000 20 14 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170003313 170003313 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:170003313G>A ENST00000263816.3 - 69 13032 c.12747C>T c.(12745-12747)ttC>ttT p.F4249F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4249 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGTCCTCCTTGAAGTCACTCC 0.388000 42 87 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40135928 40135928 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:40135928G>C ENST00000278198.2 - 2 3878 c.1915C>G c.(1915-1917)Caa>Gaa p.Q639E LRRC4C_ENST00000527150.1_Missense_Mutation_p.Q639E|LRRC4C_ENST00000530763.1_Missense_Mutation_p.Q639E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.Q639E Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 639 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TTTTAGATTTGAGTCTCTTGT 0.308000 19 8 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27256995 27256995 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:27256995C>T ENST00000361042.4 + 9 1451 c.1226C>T c.(1225-1227)tCt>tTt p.S409F WASF3_ENST00000335327.5_Missense_Mutation_p.S412F Q9UPY6 WASF3_HUMAN WAS protein family, member 3 412 Poly-Pro. actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GGTCCCGGGTCTTCTCTTTCG 0.687000 7 62 0 0 1 0 0 ERRFI1 54206 broad.mit.edu 37 1 8074239 8074239 + Silent SNP G G A rs34409716 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:8074239G>A ENST00000377482.5 - 4 643 c.420C>T c.(418-420)ttC>ttT p.F140F ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 140 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GGGCACAGGGGAAAAGGGAAG 0.502000 8 88 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29608201 29608201 + Nonsense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:29608201C>T ENST00000318184.5 - 20 2417 c.2418G>A c.(2416-2418)tgG>tgA p.W806* OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 806 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTGATTGGATCCAGTCCAAGA 0.418000 10 60 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811006 65811006 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:65811006G>C ENST00000312006.4 - 3 549 c.268C>G c.(268-270)Cac>Gac p.H90D GAL3ST3_ENST00000527878.1_Missense_Mutation_p.H90D NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 90 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GTCAGGTTGTGGCGCTCGGCA 0.672000 4 23 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99452659 99452659 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:99452659G>A ENST00000376460.1 - 53 5921 c.5841C>T c.(5839-5841)atC>atT p.I1947I DOCK9_ENST00000339416.2_Silent_p.I1934I NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1948 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGGCCACCTCGATGGGGTTCA 0.557000 3 40 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155298486 155298486 + Missense_Mutation SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:155298486A>T ENST00000357232.4 - 3 344 c.345T>A c.(343-345)gaT>gaA p.D115E DCHS2_ENST00000339452.1_Missense_Mutation_p.D721E NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGATTTGCCCATCATGAGGGT 0.438000 15 44 0 0 1 0 0 CT45A5 441521 broad.mit.edu 37 X 134947460 134947460 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:134947460C>G ENST00000463085.2 - 4 576 c.487G>C c.(487-489)Gaa>Caa p.E163Q CT45A5_ENST00000370724.3_Missense_Mutation_p.E163Q|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.E163Q Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 endometrium(1)|large_intestine(2)|lung(6) 9 ATGATGGATTCAAAAAATCGT 0.403000 57 13 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779025 156779025 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:156779025C>T ENST00000392306.2 - 7 1141 c.1002G>A c.(1000-1002)aaG>aaA p.K334K SH2D2A_ENST00000368199.3_Silent_p.K324K|SH2D2A_ENST00000368198.3_Silent_p.K306K NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 324 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGACCAGCTCTTCCGTAGGA 0.612000 17 122 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201174 24201174 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:24201174G>C ENST00000536471.1 - 3 1192 c.934C>G c.(934-936)Cac>Gac p.H312D CNR2_ENST00000374472.4_Missense_Mutation_p.H312D P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 312 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GCCAGGCAGTGATGGGCAGAG 0.557000 8 67 0 0 1 0 0 STEAP1 26872 broad.mit.edu 37 7 89790194 89790194 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:89790194G>A ENST00000297205.2 + 3 360 c.160G>A c.(160-162)Gaa>Aaa p.E54K STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 54 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) CCATGCTGATGAATTTGACTG 0.423000 16 176 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41206590 41206590 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:41206590G>T ENST00000399959.2 + 16 2650 c.1795G>T c.(1795-1797)Gcc>Tcc p.A599S DDX3X_ENST00000457138.2_Missense_Mutation_p.A583S|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 599 Gly/Ser-rich. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 AGGGTTTGGTGCCAGAGACTA 0.498000 HNSCC(61;0.18) 45 12 4.75955e-12 5.48069e-12 1 1 0 KLK13 26085 broad.mit.edu 37 19 51561905 51561905 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:51561905C>A ENST00000595793.1 - 4 577 c.535G>T c.(535-537)Gcc>Tcc p.A179S KLK13_ENST00000335422.3_Missense_Mutation_p.A27S|KLK13_ENST00000595547.1_Missense_Mutation_p.A106S NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 179 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) TGGATGTTGGCACATTGTAGA 0.473000 110 101 8.11351e-46 1.02771e-45 1 1 0 PABPC1L 80336 broad.mit.edu 37 20 43541401 43541401 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:43541401G>A ENST00000255136.3 + 2 376 c.294G>A c.(292-294)gtG>gtA p.V98V PABPC1L_ENST00000217073.2_Silent_p.V98V|PABPC1L_ENST00000217074.4_Silent_p.V98V|PABPC1L_ENST00000537323.1_Silent_p.V98V NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 98 nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 AGTCAGGTGTGGGCAACATCT 0.512000 7 86 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488406 103488406 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:103488406G>A ENST00000358392.2 - 8 1490 c.1173C>T c.(1171-1173)ggC>ggT p.G391G COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Silent_p.G340G|COL11A1_ENST00000370096.3_Silent_p.G379G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 379 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AATCATATTCGCCTAAATCTC 0.363000 24 51 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948389 119948389 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:119948389G>T ENST00000307142.4 + 3 1061 c.865G>T c.(865-867)Gac>Tac p.D289Y SYNPO2_ENST00000434046.2_Missense_Mutation_p.D289Y|SYNPO2_ENST00000429713.2_Missense_Mutation_p.D289Y|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 289 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGTGATCCTCGACTGCTCTGA 0.557000 9 17 0.00448238 0.00460353 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20544136 20544136 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:20544136C>G ENST00000504154.1 + 21 2415 c.2163C>G c.(2161-2163)tgC>tgG p.C721W SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.C725W|SLIT2_ENST00000503823.1_Missense_Mutation_p.C713W|SLIT2_ENST00000503837.1_Missense_Mutation_p.C717W NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 721 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACAATAGTTGCTCCCCACTTT 0.423000 86 162 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158139296 158139296 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:158139296G>A ENST00000313708.6 - 14 1697 c.1415C>T c.(1414-1416)cCg>cTg p.P472L EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.P441L NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 472 Pro/Ser/Thr-rich. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTGGTGCTCGGCACGTACCC 0.602000 T HMGA2 lipoma 13 11 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23403998 23403998 + Missense_Mutation SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:23403998A>T ENST00000216036.4 - 6 975 c.779T>A c.(778-780)gTg>gAg p.V260E NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 260 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TTCAGTGATCACTGTGGCGAA 0.587000 8 59 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71062897 71062897 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:71062897C>G ENST00000410009.3 - 1 55 c.10G>C c.(10-12)Gag>Cag p.E4Q NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 4 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GCCTCCTTCTCCACAGTCATC 0.562000 4 11 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25457366 25457366 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:25457366C>T ENST00000381884.4 - 17 4151 c.3966G>A c.(3964-3966)cgG>cgA p.R1322R CENPJ_ENST00000545981.1_3'UTR NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1322 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TAACTCTTATCCGACCGGATC 0.428000 32 146 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47803368 47803368 + Splice_Site SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:47803368C>T ENST00000591416.1 - 4 657 c.226G>A c.(226-228)Gcc>Acc p.A76T MBD1_ENST00000424334.2_Splice_Site_p.A102T|MBD1_ENST00000398495.2_Splice_Site_p.A76T|MBD1_ENST00000349085.2_Splice_Site_p.A76T|MBD1_ENST00000382948.5_Splice_Site_p.A76T|MBD1_ENST00000339998.6_Splice_Site_p.A76T|MBD1_ENST00000585672.1_Splice_Site_p.A76T|MBD1_ENST00000353909.3_Splice_Site_p.A76T|MBD1_ENST00000347968.3_Splice_Site_p.A76T|MBD1_ENST00000590208.1_Splice_Site_p.A76T|MBD1_ENST00000457839.2_Splice_Site_p.A76T|MBD1_ENST00000398488.1_Splice_Site_p.A76T|MBD1_ENST00000436910.1_Splice_Site_p.A76T|MBD1_ENST00000588937.1_Splice_Site_p.A76T|MBD1_ENST00000587605.1_Splice_Site_p.A76T|MBD1_ENST00000269468.5_Splice_Site_p.A76T|MBD1_ENST00000398493.1_Splice_Site_p.A76T|MBD1_ENST00000591535.1_Splice_Site_p.A76T|MBD1_ENST00000269471.5_Splice_Site_p.A76T|MBD1_ENST00000585595.1_Splice_Site_p.A76T Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 76 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 ACGGGATGGGCCTGGAAAGTA 0.562000 31 23 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121386961 121386961 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:121386961C>G ENST00000393667.3 - 19 9491 c.9381G>C c.(9379-9381)aaG>aaC p.K3127N GOLGB1_ENST00000340645.5_Missense_Mutation_p.K3117N NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 3117 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GAACTCCATTCTTTTCCTGGG 0.463000 10 92 0 0 1 0 0 NOM1 64434 broad.mit.edu 37 7 156754873 156754873 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:156754873C>T ENST00000275820.3 + 5 1676 c.1661C>T c.(1660-1662)gCc>gTc p.A554V NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 554 MIF4G. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ACGATGTTGGCCCTGAAGAAC 0.448000 4 179 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412884 49412884 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49412884C>T ENST00000418115.1 - 2 523 c.139G>A c.(139-141)Gag>Aag p.E47K RHOA_ENST00000454011.2_Missense_Mutation_p.E47K|RHOA_ENST00000422781.1_Missense_Mutation_p.E47K NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 47 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) CCATCCACCTCGATATCTGCC 0.433000 38 108 0 0 1 0 0 UNC5CL 222643 broad.mit.edu 37 6 40999824 40999824 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:40999824G>C ENST00000244565.3 - 5 1090 c.1002C>G c.(1000-1002)atC>atG p.I334M UNC5CL_ENST00000373164.1_Missense_Mutation_p.I334M|UNC5CL_ENST00000470102.1_5'UTR NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 334 Interaction with RELA and NFKB1. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TTCCATGCCAGATGTGGAGAT 0.572000 16 19 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37036535 37036535 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:37036535C>G ENST00000282516.8 + 33 6416 c.5917C>G c.(5917-5919)Caa>Gaa p.Q1973E NIPBL_ENST00000448238.2_Missense_Mutation_p.Q1973E NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1973 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGCTTGTACTCAACTTGTTGA 0.264000 8 39 0 0 1 0 0 AAK1 22848 broad.mit.edu 37 2 69706135 69706135 + Silent SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:69706135A>T ENST00000409085.4 - 20 3004 c.2628T>A c.(2626-2628)acT>acA p.T876T AAK1_ENST00000409068.1_Intron NM_014911.3 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 876 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 CCAGAAGGTCAGTAGTAGGGT 0.488000 33 51 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880990 100880990 + Nonsense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:100880990C>T ENST00000341189.4 + 5 1887 c.1021C>T c.(1021-1023)Caa>Taa p.Q341* ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.Q341*|ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.Q341* NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 341 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 AAAAGAATTTCAAGTGTGTGC 0.318000 17 68 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37771126 37771126 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:37771126C>A ENST00000402918.2 - 3 1234 c.449G>T c.(448-450)tGc>tTc p.C150F RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GAGGCTCGGGCACTCGGAGAA 0.647000 36 47 1.30015e-28 1.61325e-28 1 1 0 OR8H3 390152 broad.mit.edu 37 11 55890340 55890340 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:55890340C>A ENST00000313472.3 + 1 492 c.492C>A c.(490-492)agC>agA p.S164R NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TTTCCATGAGCAGATTGCATT 0.433000 11 151 0.00136819 0.00141956 1 1 0 RP1 6101 broad.mit.edu 37 8 55539327 55539327 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:55539327G>T ENST00000220676.1 + 4 3033 c.2885G>T c.(2884-2886)gGa>gTa p.G962V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 962 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACAAATTCTGGAAAAATAAGT 0.313000 6 81 3.59834e-05 3.83823e-05 1 1 0 TRPC4AP 26133 broad.mit.edu 37 20 33637735 33637735 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:33637735C>G ENST00000252015.2 - 6 680 c.591G>C c.(589-591)ttG>ttC p.L197F TRPC4AP_ENST00000451813.2_Missense_Mutation_p.L197F|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.L158F Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 197 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) TACTTGTCATCAATGTAAACA 0.403000 6 145 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101627948 101627948 + Nonsense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:101627948G>C ENST00000409318.1 - 18 3012 c.2882C>G c.(2881-2883)tCa>tGa p.S961* RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Nonsense_Mutation_p.S946*|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 946 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TCTCGATGTTGACAACAGAGG 0.478000 14 89 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24979035 24979035 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:24979035G>T ENST00000323848.9 + 7 1151 c.836G>T c.(835-837)cGg>cTg p.R279L SRRM1_ENST00000374389.4_Missense_Mutation_p.R279L|SRRM1_ENST00000447431.2_Missense_Mutation_p.R279L|SRRM1_ENST00000537199.1_Missense_Mutation_p.R148L|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 279 Arg-rich.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCACGATCTCGGTCACGCTCC 0.502000 17 21 4.75885e-15 5.60733e-15 1 1 0 CASP3 836 broad.mit.edu 37 4 185550569 185550569 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:185550569C>G ENST00000308394.4 - 8 953 c.691G>C c.(691-693)Gaa>Caa p.E231Q CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000393588.4_3'UTR|CASP3_ENST00000523916.1_Missense_Mutation_p.E231Q NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 231 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) TGCATAAATTCAAGCTTGTCG 0.418000 9 61 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589935 140589935 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140589935G>T ENST00000239450.2 + 1 1645 c.1456G>T c.(1456-1458)Gtc>Ttc p.V486F PCDHB12_ENST00000541609.1_Missense_Mutation_p.V149F NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 486 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACGCCCAGGTCAACTACTC 0.652000 33 61 3.86903e-22 4.69535e-22 1 1 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168226797 168226797 + RNA SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:168226797G>A ENST00000359760.5 - 0 592 NR_027906.1 CCGCCCATGGGACCCATCGCC 0.692000 13 58 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72948686 72948686 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:72948686T>A ENST00000262209.4 - 21 2599 c.2392A>T c.(2392-2394)Aat>Tat p.N798Y RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 798 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ATAAAATAATTCCTTTTCTGG 0.353000 19 56 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155298485 155298485 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:155298485C>A ENST00000357232.4 - 3 345 c.346G>T c.(346-348)Ggg>Tgg p.G116W DCHS2_ENST00000339452.1_Missense_Mutation_p.G722W NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAGATTTGCCCATCATGAGGG 0.438000 16 45 1.67942e-08 1.88045e-08 1 1 0 ZNF431 170959 broad.mit.edu 37 19 21366638 21366638 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:21366638C>G ENST00000311048.7 + 5 1676 c.1532C>G c.(1531-1533)tCt>tGt p.S511C ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 GGAGAGAAATCTTACAAATGT 0.353000 10 62 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412387 110412387 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:110412387G>A ENST00000378402.5 + 13 1199 c.1095G>A c.(1093-1095)acG>acA p.T365T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 365 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGAAAAAACGCCTGGGTACA 0.438000 HNSCC(38;0.096) 76 238 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37537106 37537106 + Splice_Site SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:37537106C>A ENST00000432825.2 - 3 1468 c.e3+1 FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_Splice_Site NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CATGACAGCACCTTGCTATTA 0.458000 30 21 8.16721e-17 9.71754e-17 1 1 0 SGK3 23678 broad.mit.edu 37 8 67743527 67743527 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:67743527G>A ENST00000396596.1 + 8 720 c.506G>A c.(505-507)gGa>gAa p.G169E C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.G169E|SGK3_ENST00000520976.1_Missense_Mutation_p.G169E|SGK3_ENST00000345714.4_Missense_Mutation_p.G169E|SGK3_ENST00000522398.1_Missense_Mutation_p.G169E|SGK3_ENST00000521198.2_Missense_Mutation_p.G169E NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 169 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity p.G102A(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) AAAGTTATTGGAAAAGGCAGC 0.333000 53 142 0 0 1 0 0 FAM212A 389119 broad.mit.edu 37 3 49842377 49842377 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49842377G>A ENST00000333323.4 + 2 954 c.821G>A c.(820-822)cGt>cAt p.R274H NM_203370.1 NP_976248.1 Q96EL1 CC054_HUMAN family with sequence similarity 212, member A 272 ATGAGCTGTCGTAGCCGCCAG 0.572000 50 113 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45865139 45865139 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:45865139G>C ENST00000311275.7 - 16 2980 c.2727C>G c.(2725-2727)gtC>gtG p.V909V ZMYND8_ENST00000458360.2_Silent_p.V777V|ZMYND8_ENST00000360911.3_Silent_p.V858V|ZMYND8_ENST00000355972.4_Silent_p.V909V|ZMYND8_ENST00000446994.2_Silent_p.V800V|ZMYND8_ENST00000461685.1_Silent_p.V883V|ZMYND8_ENST00000536340.1_Silent_p.V936V|ZMYND8_ENST00000352431.2_Silent_p.V883V|ZMYND8_ENST00000471951.2_Silent_p.V929V|ZMYND8_ENST00000396281.4_Silent_p.V909V|ZMYND8_ENST00000262975.4_Silent_p.V863V|ZMYND8_ENST00000540497.1_Silent_p.V857V|ZMYND8_ENST00000372023.3_Silent_p.V858V NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 909 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGTCAGCGTTGACTGAGGACA 0.592000 7 129 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102763640 102763640 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:102763640G>A ENST00000370220.1 + 2 3848 c.785G>A c.(784-786)cGa>cAa p.R262Q LZTS2_ENST00000370223.3_Missense_Mutation_p.R262Q Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 262 Required for centrosomal localization (By similarity).|Ser-rich. cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGCCAGCCCGAGGGGTCCCT 0.711000 8 36 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32842861 32842861 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:32842861G>A ENST00000421745.2 + 74 14598 c.14464G>A c.(14464-14466)Gac>Aac p.D4822N NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4822 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TCCTGACACTGACGATGCCCC 0.522000 6 24 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750597 167750597 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:167750597G>A ENST00000470487.1 - 9 1576 c.887C>T c.(886-888)cCt>cTt p.P296L GOLIM4_ENST00000309027.4_Missense_Mutation_p.P268L NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 296 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.P296H(1) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TGCTCTTCCAGGAACTGCTTC 0.463000 58 51 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147795908 147795908 + Silent SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:147795908G>T ENST00000513335.1 - 8 1036 c.837C>A c.(835-837)gcC>gcA p.A279A TTC29_ENST00000325106.4_Silent_p.A253A|TTC29_ENST00000398886.4_Silent_p.A279A Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 253 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GAATTTTGATGGCCTGTTTGT 0.408000 5 14 1 1 1 1 0 C22orf31 25770 broad.mit.edu 37 22 29454843 29454843 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:29454843G>A ENST00000216071.4 - 3 811 c.760C>T c.(760-762)Cag>Tag p.Q254* NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 254 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 ATGGCACCCTGACTGCAAAGA 0.567000 31 119 0 0 1 0 0 DNAJB6 10049 broad.mit.edu 37 7 157177703 157177703 + Splice_Site SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:157177703G>T ENST00000262177.4 + 7 825 c.e7+1 DNAJB6_ENST00000452797.2_Splice_Site|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000429029.2_Splice_Site NM_058246.3 NP_490647.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CTACAAAGAGGTACTGTGGTA 0.408000 26 56 1.66031e-10 1.89393e-10 1 1 0 FAM83H 286077 broad.mit.edu 37 8 144808878 144808878 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:144808878G>A ENST00000388913.3 - 5 2878 c.2753C>T c.(2752-2754)cCc>cTc p.P918L NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 918 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCCGGCACGGGGGGCACCGG 0.692000 3 19 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52947576 52947576 + Nonsense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:52947576G>C ENST00000394752.3 - 15 1920 c.1538C>G c.(1537-1539)tCa>tGa p.S513* SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.S513*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.S513* NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 513 regulation of transcription, DNA-dependent nucleus p.S513*(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) ATATGGCCCTGAGAAGCAACG 0.403000 20 48 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70860673 70860673 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:70860673C>A ENST00000358731.4 + 39 8099 c.7836C>A c.(7834-7836)ttC>ttA p.F2612L BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2612 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CTGAATATTTCTTCAATGATA 0.368000 19 89 8.34094e-07 9.10465e-07 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34962424 34962424 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:34962424C>T ENST00000329357.5 + 1 1512 c.1476C>T c.(1474-1476)acC>acT p.T492T NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 492 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GCAGAACAACCGATCAAGACC 0.463000 42 18 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35052001 35052001 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:35052001A>G ENST00000360359.3 + 21 3236 c.3098A>G c.(3097-3099)cAc>cGc p.H1033R ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 1033 PID. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CAGACCAGCCACCACTATTGC 0.622000 17 26 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582181 180582181 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:180582181C>G ENST00000328275.1 + 1 239 c.239C>G c.(238-240)cCa>cGa p.P80R NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCAATGTGCCAAAGATGGCA 0.522000 36 71 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691417 153691417 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:153691417G>A ENST00000304337.2 - 2 1560 c.740C>T c.(739-741)tCa>tTa p.S247L NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 247 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CACAGGCAATGATTTTAAACC 0.408000 13 140 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6977009 6977009 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:6977009G>A ENST00000278319.5 + 7 1389 c.801G>A c.(799-801)tgG>tgA p.W267* ZNF215_ENST00000529903.1_Nonsense_Mutation_p.W267*|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.W267* NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 267 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CAGATGCCTGGAAAGGTGAGA 0.398000 9 60 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118530476 118530476 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:118530476C>G ENST00000336338.5 - 40 5715 c.5650G>C c.(5650-5652)Gaa>Caa p.E1884Q NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1884 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCTATCTTTTCTTTCCAGCGT 0.408000 3 48 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16436751 16436751 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:16436751T>A ENST00000380672.4 - 6 1498 c.1441A>T c.(1441-1443)Agc>Tgc p.S481C BNC2_ENST00000380667.2_Missense_Mutation_p.S414C|BNC2_ENST00000380666.2_Missense_Mutation_p.S481C|BNC2_ENST00000545497.1_Missense_Mutation_p.S386C NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CGGAGGGAGCTAAAGACCATG 0.438000 44 59 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591630 86591630 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:86591630C>A ENST00000370571.2 - 3 755 c.389G>T c.(388-390)aGa>aTa p.R130I COL24A1_ENST00000436319.1_Missense_Mutation_p.R130I NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 130 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TAATTGCAGTCTATTTTTATT 0.373000 8 55 0.00448238 0.00460353 1 1 0 LGR4 55366 broad.mit.edu 37 11 27389553 27389553 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:27389553G>A ENST00000379214.4 - 18 3160 c.2717C>T c.(2716-2718)tCt>tTt p.S906F LGR4_ENST00000389858.4_Missense_Mutation_p.S882F NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 906 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 TGCATAATCAGAGTGGGCCGA 0.512000 9 52 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59895032 59895032 + Missense_Mutation SNP C C T rs150780889 byFrequency TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:59895032C>T ENST00000265036.5 - 10 1365 c.1298G>A c.(1297-1299)cGt>cAt p.R433H DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 433 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) ACTAATTTGACGGCAAAATGA 0.393000 5 54 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106864299 106864299 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:106864299G>A ENST00000286398.7 + 8 983 c.695G>A c.(694-696)cGt>cAt p.R232H SMC2_ENST00000374787.3_Missense_Mutation_p.R232H|SMC2_ENST00000303219.8_Missense_Mutation_p.R232H|SMC2_ENST00000374793.3_Missense_Mutation_p.R232H NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 232 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 CATTTGAGTCGTTTATATATT 0.323000 13 74 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34395936 34395936 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:34395936G>C ENST00000397766.2 + 1 1663 c.1204G>C c.(1204-1206)Gat>Cat p.D402H NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 402 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) ATTCCACAATGATACTGTGAT 0.433000 8 62 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58131264 58131264 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:58131264C>A ENST00000547588.1 - 1 765 c.766G>T c.(766-768)Gtc>Ttc p.V256F AGAP2_ENST00000257897.3_Intron NM_001122772.2 NP_001116244.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 256 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CCAGCCCCGACCCCACCAGAG 0.692000 4 13 0.00909568 0.00926327 1 1 0 ZNF574 64763 broad.mit.edu 37 19 42583494 42583494 + Nonsense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:42583494G>T ENST00000600245.1 + 2 1391 c.736G>T c.(736-738)Gag>Tag p.E246* CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.E336*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.E246* Q6ZN55 ZN574_HUMAN zinc finger protein 574 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CGAGTCTCAGGAGCCTGCCTT 0.617000 56 42 9.59449e-18 1.15514e-17 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52433158 52433158 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:52433158C>G ENST00000420323.2 + 76 12643 c.12382C>G c.(12382-12384)Ctg>Gtg p.L4128V NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4193 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AACAGGCACTCTGCAGAATTT 0.532000 124 294 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65194260 65194260 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:65194260G>T ENST00000381210.3 - 3 411 c.301C>A c.(301-303)Cct>Act p.P101T TECRL_ENST00000507440.1_Missense_Mutation_p.P101T NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 101 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 ACTCGAGAAGGGTACCACTTT 0.318000 4 59 0.150653 0.151651 1 1 0 POLR1C 9533 broad.mit.edu 37 6 43487821 43487821 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:43487821G>C ENST00000372389.3 + 5 488 c.400G>C c.(400-402)Gag>Cag p.E134Q POLR1C_ENST00000304004.3_Missense_Mutation_p.E134Q|POLR1C_ENST00000372344.2_Missense_Mutation_p.E134Q NM_203290.2 NP_976035.1 O15160 RPAC1_HUMAN polymerase (RNA) I polypeptide C, 30kDa 134 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) AGAAGGCACAGAGATAGATAC 0.478000 5 17 0 0 1 0 0 ALPL 249 broad.mit.edu 37 1 21903056 21903056 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:21903056A>G ENST00000374840.3 + 11 1481 c.1231A>G c.(1231-1233)Act>Gct p.T411A ALPL_ENST00000539907.1_Missense_Mutation_p.T334A|ALPL_ENST00000374830.1_Missense_Mutation_p.T57A|ALPL_ENST00000374832.1_Missense_Mutation_p.T411A|ALPL_ENST00000540617.1_Missense_Mutation_p.T356A|ALPL_ENST00000425315.2_Missense_Mutation_p.T411A|ALPL_ENST00000374829.1_Missense_Mutation_p.T57A NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 411 T -> A (in HOPS; absence of residual enzymatic activity). response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) GAAGCCCTTCACTGCCATCCT 0.612000 17 45 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205098 66205098 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:66205098G>A ENST00000503581.1 - 4 743 c.206C>T c.(205-207)tCa>tTa p.S69L EYS_ENST00000370618.3_Missense_Mutation_p.S69L|EYS_ENST00000342421.5_Missense_Mutation_p.S69L|EYS_ENST00000393380.2_Missense_Mutation_p.S69L|EYS_ENST00000370616.2_Missense_Mutation_p.S69L|EYS_ENST00000370621.3_Missense_Mutation_p.S69L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 69 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTGATTGCCTGAAGTATCTAT 0.368000 13 80 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43910506 43910506 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:43910506G>T ENST00000314537.5 + 9 998 c.773G>T c.(772-774)tGc>tTc p.C258F CRHR1_ENST00000293493.7_Missense_Mutation_p.C83F|CRHR1_ENST00000352855.5_Missense_Mutation_p.C218F|CRHR1_ENST00000577353.1_Missense_Mutation_p.C258F|CRHR1_ENST00000339069.5_Missense_Mutation_p.C157F|CRHR1_ENST00000398285.3_Missense_Mutation_p.C287F NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 287 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCTTCTAGGTGCTGGTTTGGC 0.607000 59 34 1.44317e-28 1.78706e-28 1 1 0 WDR11 55717 broad.mit.edu 37 10 122664181 122664181 + Silent SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:122664181G>T ENST00000263461.6 + 25 3297 c.3051G>T c.(3049-3051)ctG>ctT p.L1017L WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 1017 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TGCAGTTGCTGTTGGAAACAA 0.393000 37 65 6.2361e-21 7.53788e-21 1 1 0 NID1 4811 broad.mit.edu 37 1 236201407 236201407 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:236201407C>T ENST00000264187.6 - 5 1364 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K NID1_ENST00000366595.3_Missense_Mutation_p.E428K NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 428 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AAATTACCTTCTGCAACACAT 0.527000 8 57 0 0 1 0 0 CCDC115 84317 broad.mit.edu 37 2 131099321 131099321 + Splice_Site SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:131099321C>T ENST00000259229.2 - 3 440 c.217G>A c.(217-219)Gag>Aag p.E73K CCDC115_ENST00000409127.1_Splice_Site_p.E68K|CCDC115_ENST00000437688.2_Splice_Site_p.E68K NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 73 endosome|lysosome central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) TCCTGGGCCTCGCTGAAGGAC 0.667000 5 20 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154996897 154996897 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:154996897G>A ENST00000392825.3 + 4 757 c.190G>A c.(190-192)Gtg>Atg p.V64M GALNT13_ENST00000409237.1_Missense_Mutation_p.V64M NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 64 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GGGAAAAGCTGTGTTGATTCC 0.368000 4 54 0 0 1 0 0 ZCCHC3 85364 broad.mit.edu 37 20 278758 278758 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:278758C>T ENST00000382352.3 + 1 1022 c.531C>T c.(529-531)ggC>ggT p.G177G NM_033089.6 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 177 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GAGACGAGGGCGCCTGCCCGA 0.711000 15 9 0 0 1 0 0 FNDC8 54752 broad.mit.edu 37 17 33454200 33454200 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:33454200G>A ENST00000158009.5 + 2 464 c.349G>A c.(349-351)Gag>Aag p.E117K NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 117 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) GCTGGAGGGGGAGCTGAACAA 0.567000 31 199 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170929006 170929006 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:170929006C>T ENST00000436636.2 - 4 549 c.205G>A c.(205-207)Gaa>Aaa p.E69K TNIK_ENST00000284483.8_Missense_Mutation_p.E69K|TNIK_ENST00000357327.5_Missense_Mutation_p.E69K|TNIK_ENST00000470834.1_Missense_Mutation_p.E69K|TNIK_ENST00000538048.1_Missense_Mutation_p.E69K|TNIK_ENST00000341852.6_Missense_Mutation_p.E69K|TNIK_ENST00000460047.1_Missense_Mutation_p.E69K|TNIK_ENST00000488470.1_Missense_Mutation_p.E69K|TNIK_ENST00000369326.5_Missense_Mutation_p.E69K|TNIK_ENST00000475336.1_Missense_Mutation_p.E69K NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 69 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ATGTTAATTTCTTGTTTGATT 0.343000 12 54 0 0 1 0 0 ORC5 5001 broad.mit.edu 37 7 103848302 103848302 + Translation_Start_Site SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:103848302G>C ENST00000545943.1 - 0 146 ORC5_ENST00000297431.4_Missense_Mutation_p.I17M|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.I17M O43913 ORC5_HUMAN origin recognition complex, subunit 5 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 AGGACTGCAAGATGGACACTT 0.517000 3 56 0 0 1 0 0 DHRS3 9249 broad.mit.edu 37 1 12639357 12639357 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:12639357G>C ENST00000376223.2 - 3 806 c.423C>G c.(421-423)ctC>ctG p.L141L NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 141 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) GTTGGGACTTGAGGAGGGCAT 0.627000 12 38 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169695895 169695895 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:169695895G>C ENST00000333360.7 - 11 1837 c.1698C>G c.(1696-1698)ctC>ctG p.L566L SELE_ENST00000367780.4_Silent_p.L441L|SELE_ENST00000367775.1_Silent_p.L441L|SELE_ENST00000367774.1_Silent_p.L440L|SELE_ENST00000367782.4_Silent_p.L503L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.L440L|SELE_ENST00000367781.4_Silent_p.L503L|SELE_ENST00000367777.1_Silent_p.L503L|SELE_ENST00000367776.1_Silent_p.L503L NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 566 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TCAGGAGGGAGAGTCCAGCAG 0.428000 10 18 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316941 72316941 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:72316941G>A ENST00000340595.3 + 8 1309 c.1113G>A c.(1111-1113)atG>atA p.M371I SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.M371I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.M415I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M415I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.M415I NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 415 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity p.M371I(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ATGTTCAGATGAATGGGGATA 0.443000 20 25 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42880101 42880101 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:42880101C>G ENST00000334370.4 + 41 8146 c.7511C>G c.(7510-7512)cCg>cGg p.P2504R MEGF8_ENST00000378073.4_Missense_Mutation_p.P165R|MEGF8_ENST00000251268.6_Missense_Mutation_p.P2571R NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2571 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GAGGTATGGCCGCGGGGCCTG 0.721000 24 28 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227872234 227872234 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:227872234C>T ENST00000396625.3 - 48 5087 c.4880G>A c.(4879-4881)aGa>aAa p.R1627K COL4A4_ENST00000329662.7_Missense_Mutation_p.R1624K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1627 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGGTGCTGCTCTGAAATCTTC 0.532000 11 53 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73185611 73185611 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:73185611G>A ENST00000286657.4 - 8 1208 c.1172C>T c.(1171-1173)tCa>tTa p.S391L NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 391 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAAAGCAGATGAAAAACCATC 0.408000 16 32 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54721344 54721344 + Splice_Site SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:54721344C>T ENST00000391750.1 - 13 1730 c.e13-1 LILRB3_ENST00000469273.1_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRA6_ENST00000419410.2_Silent_p.Q532Q|LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRB3_ENST00000245620.9_Silent_p.Q532Q|LILRA6_ENST00000270464.5_Silent_p.Q532Q|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity p.?(1) endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 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;0.105) CGTGTGGGCTCTGCTGGAGAG 0.582000 5 52 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700550 44700550 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:44700550G>C ENST00000396056.2 + 4 930 c.695G>C c.(694-696)aGt>aCt p.S232T ZNF35_ENST00000542250.1_Missense_Mutation_p.S72T|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 232 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) AAAGGATTTAGTCAGAGTGCA 0.453000 36 59 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38969170 38969170 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:38969170G>T ENST00000355481.4 + 31 4681 c.4550G>T c.(4549-4551)tGc>tTc p.C1517F RYR1_ENST00000360985.3_Missense_Mutation_p.C1517F|RYR1_ENST00000359596.3_Missense_Mutation_p.C1517F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1517 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCATTGGGTGCCTGGTGGAC 0.557000 31 35 2.70662e-09 3.05878e-09 1 1 0 KCNQ3 3786 broad.mit.edu 37 8 133142079 133142079 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:133142079G>A ENST00000388996.4 - 15 2469 c.2049C>T c.(2047-2049)atC>atT p.I683I KCNQ3_ENST00000521134.1_Silent_p.I563I|KCNQ3_ENST00000519445.1_Silent_p.I671I NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 683 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGTTGCAGATGATGGTTTTCA 0.527000 8 147 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669401 53669401 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:53669401C>A ENST00000600412.1 - 2 262 c.147G>T c.(145-147)atG>atT p.M49I ZNF665_ENST00000396424.3_Missense_Mutation_p.M114I Q9H7R5 ZN665_HUMAN zinc finger protein 665 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) CTTTTTGCAACATAAGTACTG 0.403000 15 267 1.3612e-06 1.48052e-06 1 1 0 NAA10 8260 broad.mit.edu 37 X 153197542 153197542 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:153197542G>A ENST00000464845.1 - 6 686 c.368C>T c.(367-369)tCc>tTc p.S123F NAA10_ENST00000370009.1_Intron|NAA10_ENST00000393712.3_Missense_Mutation_p.S123F|NAA10_ENST00000370015.4_Missense_Mutation_p.S123F|NAA10_ENST00000393710.3_5'UTR NM_001256120.1|NM_003491.3 NP_001243049.1|NP_003482.1 P41227 NAA10_HUMAN N(alpha)-acetyltransferase 10, NatA catalytic subunit 123 N-acetyltransferase. DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 GAGGGTGTTGGAATAGAGGTG 0.582000 8 65 0 0 1 0 0 PRKAG1 5571 broad.mit.edu 37 12 49396747 49396747 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:49396747C>G ENST00000548065.1 - 12 1387 c.931G>C c.(931-933)Gga>Cga p.G311R PRKAG1_ENST00000316299.5_Missense_Mutation_p.G320R|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.G260R|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.G227R|PRKAG1_ENST00000552212.1_Missense_Mutation_p.G279R P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 311 CBS 4. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 GATACAATTCCCTTGACCACA 0.547000 24 52 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440034 40440034 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:40440034C>A ENST00000319592.4 - 4 1586 c.877G>T c.(877-879)Gat>Tat p.D293Y RBM47_ENST00000381793.2_Missense_Mutation_p.D293Y|RBM47_ENST00000295971.7_Missense_Mutation_p.D293Y|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.D255Y|RBM47_ENST00000381795.6_Missense_Mutation_p.D293Y A0AV96 RBM47_HUMAN RNA binding motif protein 47 293 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TGCACGGCATCCTCGCGGCTG 0.627000 7 48 0.27861 0.279992 1 1 0 YARS2 51067 broad.mit.edu 37 12 32903776 32903776 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:32903776G>A ENST00000324868.8 - 3 1007 c.980C>T c.(979-981)cCa>cTa p.P327L NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 327 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) ATCAATCTCTGGAAGGGGCAG 0.428000 33 37 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150276319 150276319 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:150276319C>T ENST00000446148.2 - 7 957 c.530G>A c.(529-531)gGg>gAg p.G177E ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G161E|ZNF300_ENST00000274599.5_Missense_Mutation_p.G161E|ZNF300_ENST00000418587.2_Missense_Mutation_p.G125E NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATATTTATGCCCTGATGCCTC 0.363000 13 107 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170471122 170471122 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:170471122C>A ENST00000260970.3 + 9 655 c.435C>A c.(433-435)atC>atA p.I145I PPIG_ENST00000409714.3_Silent_p.I130I|PPIG_ENST00000448752.2_Silent_p.I145I|PPIG_ENST00000462903.1_Silent_p.I145I NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 145 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) GACAAGTAATCTCTGGTCAAG 0.343000 78 73 1.91123e-38 2.40585e-38 1 1 0 PDE4A 5141 broad.mit.edu 37 19 10572257 10572257 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:10572257G>C ENST00000380702.2 + 13 1455 c.1455G>C c.(1453-1455)ctG>ctC p.L485L PDE4A_ENST00000592685.1_Silent_p.L485L|PDE4A_ENST00000293683.5_Silent_p.L481L|PDE4A_ENST00000352831.6_Silent_p.L507L|PDE4A_ENST00000440014.2_Silent_p.L446L|PDE4A_ENST00000344979.3_Silent_p.L268L P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 507 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) ATCACCACCTGGCCGTGGGCT 0.617000 28 29 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276099 186276099 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:186276099C>T ENST00000445192.2 + 7 1293 c.1248C>T c.(1246-1248)acC>acT p.T416T PRG4_ENST00000367483.4_Silent_p.T375T|PRG4_ENST00000367485.4_Silent_p.T323T|PRG4_ENST00000367486.3_Silent_p.T373T|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 416 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCACCAAGGAGC 0.657000 4 62 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776246 77776246 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:77776246G>A ENST00000521891.2 + 11 10744 c.10296G>A c.(10294-10296)ttG>ttA p.L3432L ZFHX4_ENST00000455469.2_Silent_p.L3387L|ZFHX4_ENST00000050961.6_Silent_p.L3383L|ZFHX4_ENST00000518282.1_Silent_p.L3406L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3383 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTCAGCCTTTGATTGACCCAC 0.443000 HNSCC(33;0.089) 5 40 0 0 1 0 0 ZNF431 170959 broad.mit.edu 37 19 21366260 21366260 + Nonsense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:21366260C>G ENST00000311048.7 + 5 1298 c.1154C>G c.(1153-1155)tCa>tGa p.S385* ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 AATTGGTCCTCAACCCTTACT 0.348000 7 43 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7168032 7168032 + Nonsense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:7168032G>T ENST00000341500.5 - 7 1596 c.1557C>A c.(1555-1557)taC>taA p.Y519* INSR_ENST00000302850.5_Nonsense_Mutation_p.Y519* NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 519 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGGGGGGCCAGTACGGCTCCC 0.468000 15 33 1.3612e-06 1.48052e-06 1 1 0 ATXN7L2 127002 broad.mit.edu 37 1 110034176 110034176 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:110034176C>G ENST00000369870.3 + 10 2006 c.1991C>G c.(1990-1992)tCt>tGt p.S664C ATXN7L2_ENST00000459635.1_3'UTR NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 664 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AACTGCCTCTCTGAGGAGGAG 0.627000 6 21 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54745718 54745718 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:54745718C>A ENST00000440558.2 - 4 440 c.392G>T c.(391-393)aGc>aTc p.S131I LILRA6_ENST00000396365.2_Missense_Mutation_p.S131I|LILRA6_ENST00000419410.2_Missense_Mutation_p.S131I|LILRA6_ENST00000270464.5_Missense_Mutation_p.S131I|LILRA6_ENST00000391735.3_Missense_Mutation_p.S131I|LILRA6_ENST00000245621.5_Missense_Mutation_p.S131I|LILRB3_ENST00000407860.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 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;0.105) CACCACAGGGCTGGGCAGGGC 0.567000 36 154 1.15505e-17 1.38515e-17 1 1 0 STAB2 55576 broad.mit.edu 37 12 104129317 104129317 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:104129317G>T ENST00000388887.2 + 52 5713 c.5509G>T c.(5509-5511)Ggt>Tgt p.G1837C NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1837 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GACCCTGCAAGGTTCAGAGCT 0.532000 6 31 0.00448238 0.00460353 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228860334 228860334 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:228860334G>T ENST00000392056.3 - 8 4571 c.4525C>A c.(4525-4527)Cct>Act p.P1509T SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1509T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1509 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGCTTGGAGGGTTGGGGGCC 0.557000 27 13 7.07758e-08 7.80974e-08 1 1 0 ASTE1 28990 broad.mit.edu 37 3 130743121 130743121 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:130743121C>G ENST00000264992.3 - 3 1471 c.1030G>C c.(1030-1032)Gat>Cat p.D344H ASTE1_ENST00000514044.1_Missense_Mutation_p.D344H NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 344 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 ACCAAAGCATCACTGATGAAA 0.458000 61 53 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145772875 145772875 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:145772875C>T ENST00000276826.5 - 4 1796 c.1595G>A c.(1594-1596)aGc>aAc p.S532N ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S532N|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S532N Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 532 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGGGGCGAGGCTGGTCCCGCA 0.751000 5 9 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27975258 27975258 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:27975258C>T ENST00000269033.3 - 13 1401 c.1250G>A c.(1249-1251)cGa>cAa p.R417Q RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R444Q NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 417 Tyrosine-protein phosphatase. actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTCATAGGCTCGGTCCAGATT 0.498000 12 101 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52433025 52433025 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:52433025C>G ENST00000420323.2 + 76 12510 c.12249C>G c.(12247-12249)ctC>ctG p.L4083L NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4148 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCCATCGCTCAAGCCTCTGT 0.567000 25 72 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091676 9091676 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:9091676C>A ENST00000397910.4 - 1 342 c.139G>T c.(139-141)Gca>Tca p.A47S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 47 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCACGATTGCACCTGTAGAT 0.522000 20 33 1.15919e-05 1.2452e-05 1 1 0 ECT2 1894 broad.mit.edu 37 3 172502562 172502562 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:172502562G>A ENST00000417960.1 + 17 2175 c.1698G>A c.(1696-1698)caG>caA p.Q566Q ECT2_ENST00000427830.1_Silent_p.Q567Q|ECT2_ENST00000441497.2_Silent_p.Q567Q|ECT2_ENST00000392692.3_Silent_p.Q598Q|ECT2_ENST00000232458.5_Silent_p.Q567Q|ECT2_ENST00000540509.1_Silent_p.Q598Q NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 567 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) GACCAGTACAGAGGTTACCCA 0.338000 22 118 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3067474 3067474 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:3067474G>A ENST00000400569.3 - 38 5177 c.4844C>T c.(4843-4845)tCa>tTa p.S1615L MYOM1_ENST00000356443.4_Missense_Mutation_p.S1615L|MYOM1_ENST00000261606.7_Missense_Mutation_p.S1519L P52179 MYOM1_HUMAN myomesin 1 1615 Ig-like C2-type 5. SD -> QT (in Ref. 5; CAA48833). striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GTGGTCGTCTGAGGCCAGGGC 0.592000 4 68 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57383376 57383376 + Missense_Mutation SNP C C A rs143726641 by1000genomes TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:57383376C>A ENST00000361249.3 + 11 1838 c.1742C>A c.(1741-1743)aCg>aAg p.T581K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 581 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex p.T581M(1)|p.T581K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AAAGTACAGACGCAGGCTTGC 0.537000 14 22 0.000151284 0.000159412 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57768852 57768852 + Silent SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:57768852T>A ENST00000371030.2 + 1 2778 c.2778T>A c.(2776-2778)ccT>ccA p.P926P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 926 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CTCAGGCTCCTAGAGTGCTCT 0.642000 20 82 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 54060292 54060292 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:54060292G>T ENST00000312233.2 - 3 850 c.284C>A c.(283-285)aCg>aAg p.T95K NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 95 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GACCAGAGACGTCTGGGAGGA 0.677000 8 25 0.000274275 0.000287021 1 1 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818763 159818763 + RNA SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:159818763G>A ENST00000497452.1 - 0 517 TGGGCAGCTCGAGGCACGACT 0.502000 5 131 0 0 1 0 0 AQP6 363 broad.mit.edu 37 12 50367219 50367219 + Missense_Mutation SNP C C A rs143331466 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:50367219C>A ENST00000315520.5 + 1 600 c.263C>A c.(262-264)gCc>gAc p.A88D AQP6_ENST00000551733.1_Intron NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 88 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 GTGACGCTGGCCTTCCTCGTA 0.662000 23 39 1.16021e-09 1.31852e-09 1 1 0 ERN2 10595 broad.mit.edu 37 16 23706109 23706109 + Silent SNP G G A rs137963364 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:23706109G>A ENST00000256797.4 - 17 2352 c.2184C>T c.(2182-2184)atC>atT p.I728I ERN2_ENST00000457008.2_Silent_p.I628I NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 680 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCGTGCCGGGGATGCCGGAGT 0.652000 9 18 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332643 22332643 + RNA SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:22332643C>T ENST00000558896.1 + 0 450 CTGTGTTACTCTGCCAAAGAT 0.458000 46 78 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74153302 74153302 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:74153302C>T ENST00000443185.2 - 3 2026 c.1709G>A c.(1708-1710)aGc>aAc p.S570N ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGAGCCAGGGCTGCTGGGCTG 0.736000 10 23 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134618714 134618714 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:134618714C>A ENST00000361675.2 + 5 1423 c.1194C>A c.(1192-1194)gcC>gcA p.A398A CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000543443.1_Intron Q05682 CALD1_HUMAN caldesmon 1 398 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 AAAAACATGCCATGCAAGAGA 0.443000 14 31 3.27435e-08 3.64617e-08 1 1 0 COG8 84342 broad.mit.edu 37 16 69370470 69370470 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:69370470G>C ENST00000306875.4 - 2 637 c.523C>G c.(523-525)Ctg>Gtg p.L175V RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.L50V|RP11-343C2.7_ENST00000564737.1_3'UTR|COG8_ENST00000562081.1_Missense_Mutation_p.L175V NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 175 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 GCAAGCTCCAGGGCCTCTTCA 0.502000 29 25 0 0 1 0 0 ALDH7A1 501 broad.mit.edu 37 5 125885982 125885982 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:125885982C>T ENST00000409134.3 - 15 1540 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K ALDH7A1_ENST00000447989.2_Missense_Mutation_p.E404K|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.E377K NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 441 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) ACCTCTTCTTCATTCTAAAAG 0.373000 6 30 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160043508 160043508 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:160043508C>G ENST00000263635.6 + 16 2952 c.2715C>G c.(2713-2715)ctC>ctG p.L905L TANC1_ENST00000454300.1_Silent_p.L799L NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 905 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TGGCCTCTCTCAGGAATCTCT 0.612000 19 32 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238050138 238050138 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:238050138C>A ENST00000366570.4 - 6 930 c.772G>T c.(772-774)Gaa>Taa p.E258* RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 258 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCCACCAGTTCATTTTCATAT 0.468000 33 60 4.11147e-13 4.78884e-13 1 1 0 CBLB 868 broad.mit.edu 37 3 105572451 105572451 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:105572451C>T ENST00000264122.4 - 3 547 c.226G>A c.(226-228)Gat>Aat p.D76N CBLB_ENST00000394027.3_Missense_Mutation_p.D98N|CBLB_ENST00000405772.1_Missense_Mutation_p.D76N|CBLB_ENST00000545639.1_Missense_Mutation_p.D98N|CBLB_ENST00000403724.1_Missense_Mutation_p.D76N NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 76 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GGCAAAATATCAAGTATATAT 0.294000 Mis S AML 7 60 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123756060 123756060 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:123756060C>T ENST00000375026.2 - 1 289 c.73G>A c.(73-75)Gtg>Atg p.V25M NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 25 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 ATTCCCATCACCATTAAGACT 0.418000 8 40 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36744962 36744962 + Nonsense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:36744962G>C ENST00000216181.5 - 2 550 c.320C>G c.(319-321)tCa>tGa p.S107* MYH9_ENST00000401701.1_Nonsense_Mutation_p.S107* NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 107 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GATGAGCCCTGAGTAGTAACG 0.632000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 12 26 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125852127 125852127 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:125852127G>C ENST00000373647.4 + 20 2649 c.2515G>C c.(2515-2517)Gag>Cag p.E839Q RABGAP1_ENST00000373643.5_Missense_Mutation_p.E178Q NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 839 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 CGAGCGATTTGAGGTTTGTTT 0.413000 11 11 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44019570 44019570 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:44019570C>A ENST00000359947.4 + 5 677 c.337C>A c.(337-339)Ctg>Atg p.L113M PTPRF_ENST00000438120.1_Missense_Mutation_p.L113M|PTPRF_ENST00000372413.3_Missense_Mutation_p.L113M|PTPRF_ENST00000372414.3_Missense_Mutation_p.L113M NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 113 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TACTAACAGCCTGGGTGAGAT 0.577000 13 13 3.27435e-08 3.64617e-08 1 1 0 ACP1 52 broad.mit.edu 37 2 272238 272238 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:272238C>T ENST00000272067.6 + 3 260 c.164C>T c.(163-165)tCc>tTc p.S55F ACP1_ENST00000405233.1_Missense_Mutation_p.P65S|ACP1_ENST00000407983.3_Missense_Mutation_p.P107S|ACP1_ENST00000439645.2_Missense_Mutation_p.S55F|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000272065.5_Intron NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 55 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) GTGGGCCGGTCCCCAGACCCA 0.493000 5 34 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27822737 27822737 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:27822737G>A ENST00000261716.3 + 11 1510 c.991G>A c.(991-993)Gaa>Aaa p.E331K TAOK1_ENST00000536202.1_Missense_Mutation_p.E331K NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 331 Poly-Glu. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AGCACAGGAAGAAGAAGAGGT 0.393000 21 16 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102524756 102524756 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:102524756A>G ENST00000393772.2 - 12 1438 c.1012T>C c.(1012-1014)Tca>Cca p.S338P FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.S338P|FBXL13_ENST00000379305.3_Missense_Mutation_p.S338P|FBXL13_ENST00000313221.4_Missense_Mutation_p.S338P|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.S338P|FBXL13_ENST00000379308.3_Missense_Mutation_p.S338P Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 338 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CCTTGGACTGAAATCTGAATT 0.368000 5 108 0 0 1 0 0 B4GALT1 2683 broad.mit.edu 37 9 33166842 33166842 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:33166842C>T ENST00000379731.4 - 1 512 c.326G>A c.(325-327)gGc>gAc p.G109D B4GALT1_ENST00000535206.1_Missense_Mutation_p.G109D NM_001497.3 NP_001488.2 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 109 SSQPRPGGDSSPVVDSGPGPASNLT -> GKHAKSSFKQFL LQIKELSNPIDLD (in Ref. 6; AAA68219). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) GCTAGCGGGGCCAGGGCCAGA 0.726000 4 8 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48451868 48451868 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:48451868T>A ENST00000358536.4 - 30 5785 c.5516A>T c.(5515-5517)tAc>tTc p.Y1839F PLXNB1_ENST00000456774.1_Missense_Mutation_p.Y1656F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.Y1839F|PLXNB1_ENST00000448774.2_Missense_Mutation_p.Y450F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.Y1656F NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1839 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCCTACCTTGTAATGCTGCAG 0.612000 24 39 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256875 63256875 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:63256875G>A ENST00000323865.3 - 1 905 c.672C>T c.(670-672)ttC>ttT p.F224F RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 224 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity p.F224F(1) cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGCGGATGCGGAAGCGCGCAG 0.567000 34 57 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111892133 111892133 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:111892133G>A ENST00000356080.4 + 14 2170 c.1803G>A c.(1801-1803)ccG>ccA p.P601P ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron NM_016824.3 NP_058432.1 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 601 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton p.P601P(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) CTCAGTCACCGCAAAATGTCC 0.393000 4 48 0 0 1 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4501316 4501316 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:4501316G>A ENST00000301284.4 + 15 1982 c.1918G>A c.(1918-1920)Gaa>Aaa p.E640K HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E640K NM_001001520.1|NM_032631.2 NP_001001520|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 635 transcription, DNA-dependent nucleus DNA binding|protein binding TGGCTCCTCTGAAGACCTGCA 0.667000 5 46 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000773 121000773 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:121000773G>A ENST00000392793.1 + 10 3065 c.2794G>A c.(2794-2796)Gtc>Atc p.V932I TECTA_ENST00000264037.2_Missense_Mutation_p.V932I O75443 TECTA_HUMAN tectorin alpha 932 V -> A (in dbSNP:rs520805). cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGTGGTGAACGTCACTGCCTA 0.587000 10 65 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888499 38888499 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:38888499C>G ENST00000302328.3 - 26 5260 c.5062G>C c.(5062-5064)Gcc>Ccc p.A1688P SCN11A_ENST00000456224.3_Missense_Mutation_p.A1650P|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1688P NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1688 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.A1688T(2) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCGGTGAAGGCGAAAAGAATA 0.453000 30 59 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48782133 48782133 + Silent SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:48782133T>C ENST00000316623.5 - 25 3452 c.2997A>G c.(2995-2997)agA>agG p.R999R NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 999 TB 5. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAGGAGTATTTCTCATGGGAC 0.542000 46 50 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544374 53544374 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:53544374G>A ENST00000371500.3 + 10 1620 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K PODN_ENST00000395871.2_Missense_Mutation_p.E304K|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.E446K NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 398 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CATTGGCCGCGAAGACTTTGC 0.642000 5 114 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 119123017 119123017 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:119123017G>T ENST00000378204.2 - 1 1075 c.269C>A c.(268-270)tCc>tAc p.S90Y NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 90 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GTAGATGCTGGAGTTGGCATC 0.527000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 22 77 5.26018e-13 6.11508e-13 1 1 0 NOC2L 26155 broad.mit.edu 37 1 883903 883903 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:883903C>G ENST00000327044.6 - 13 1573 c.1524G>C c.(1522-1524)ctG>ctC p.L508L NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 508 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TGACATTGGACAGCTTCAGGA 0.627000 18 53 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201104 24201104 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:24201104G>T ENST00000536471.1 - 3 1262 c.1004C>A c.(1003-1005)tCc>tAc p.S335Y CNR2_ENST00000374472.4_Missense_Mutation_p.S335Y P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 335 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GGTGACTGAGGATCTCGGGGC 0.547000 8 68 6.40141e-05 6.81621e-05 1 1 0 MUC16 94025 broad.mit.edu 37 19 9056559 9056559 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:9056559C>G ENST00000397910.4 - 3 31090 c.30887G>C c.(30886-30888)cGa>cCa p.R10296P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10298 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAGATGGCTCGTGGAACTCC 0.522000 10 53 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93122223 93122223 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:93122223G>C ENST00000298050.3 + 9 1073 c.973G>C c.(973-975)Gaa>Caa p.E325Q CCDC67_ENST00000525646.1_Missense_Mutation_p.E67Q NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 325 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TAAAGAACCAGAAAGGAAAAT 0.279000 3 13 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589326 140589326 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140589326C>A ENST00000239450.2 + 1 1036 c.847C>A c.(847-849)Cat>Aat p.H283N PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 283 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACCTTTTCCCATGCCTCAGA 0.413000 29 83 2.65835e-16 3.15063e-16 1 1 0 C8orf47 203111 broad.mit.edu 37 8 99101516 99101516 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:99101516G>A ENST00000318528.3 + 2 630 c.271G>A c.(271-273)Gga>Aga p.G91R C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 91 kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) CGTAGCCCCTGGAAGGGATGC 0.562000 8 102 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145568050 145568050 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:145568050C>A ENST00000296575.3 + 1 878 c.223C>A c.(223-225)Cgg>Agg p.R75R HHIP_ENST00000434550.2_Silent_p.R75R|HHIP-AS1_ENST00000512359.1_RNA NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 75 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CTTCTACCCTCGGCTGTCCTG 0.622000 7 34 8.12818e-05 8.62467e-05 1 1 0 GOLGA4 2803 broad.mit.edu 37 3 37340796 37340796 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:37340796G>A ENST00000361924.2 + 9 1394 c.1020G>A c.(1018-1020)gaG>gaA p.E340E GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Silent_p.E362E|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 340 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ATATGGCCGAGAAGACTAAAC 0.289000 25 32 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71144134 71144134 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:71144134G>T ENST00000448642.2 + 16 2110 c.1721G>T c.(1720-1722)cGt>cTt p.R574L HK1_ENST00000404387.2_Missense_Mutation_p.R543L|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R527L|HK1_ENST00000359426.6_Missense_Mutation_p.R539L|HK1_ENST00000298649.3_Missense_Mutation_p.R538L P19367 HXK1_HUMAN hexokinase 1 539 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 ACCAATTTCCGTGTGCTGCTG 0.468000 93 21 5.84261e-33 7.32434e-33 1 1 0 EIF2S2 8894 broad.mit.edu 37 20 32677681 32677681 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:32677681G>A ENST00000374980.2 - 9 1078 c.857C>T c.(856-858)tCa>tTa p.S286L NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 286 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 TGTGTCCGGTGATCGGCATGT 0.453000 27 185 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153595202 153595202 + Silent SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:153595202G>T ENST00000422373.1 - 6 1133 c.885C>A c.(883-885)ggC>ggA p.G295G FLNA_ENST00000360319.4_Silent_p.G295G|FLNA_ENST00000369850.3_Silent_p.G295G|FLNA_ENST00000344736.4_Silent_p.G295G NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 295 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCACCATGTTGCCTGTGGGCT 0.657000 46 12 1.00798e-23 1.23063e-23 1 1 0 ZNF7 7553 broad.mit.edu 37 8 146068294 146068294 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:146068294G>C ENST00000528372.1 + 5 2042 c.1802G>C c.(1801-1803)aGa>aCa p.R601T ZNF7_ENST00000325241.6_Missense_Mutation_p.R601T|ZNF7_ENST00000544249.1_Missense_Mutation_p.R505T|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612T|ZNF7_ENST00000525266.1_Intron P17097 ZNF7_HUMAN zinc finger protein 7 601 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) GAACACCAGAGAATACACACT 0.453000 6 132 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947793 237947793 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:237947793C>T ENST00000366574.2 + 90 13098 c.12781C>T c.(12781-12783)Ctg>Ttg p.L4261L RYR2_ENST00000542537.1_Silent_p.L4245L|RYR2_ENST00000360064.6_Silent_p.L4267L|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4261 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATGCTCAGTCTGAAGAGCCT 0.483000 5 16 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29853403 29853403 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:29853403C>T ENST00000357402.5 + 10 1742 c.1604C>T c.(1603-1605)gCc>gTc p.A535V MVP_ENST00000395353.1_Missense_Mutation_p.A535V NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 535 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GCGGATCATGCCAGGCTGCAA 0.627000 5 22 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138191700 138191700 + Splice_Site SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:138191700G>A ENST00000389567.4 + 18 2422 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 746 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CCTCAACATTGAGTATGCACC 0.473000 8 103 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 716773 716773 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:716773A>G ENST00000549091.1 + 39 5083 c.4991A>G c.(4990-4992)tAc>tGc p.Y1664C WDR90_ENST00000293879.4_Missense_Mutation_p.Y1662C|WDR90_ENST00000315764.4_Missense_Mutation_p.Y213C|WDR90_ENST00000547944.1_Missense_Mutation_p.Y261C NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1662 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GTGATCATCTACAACCTCTGC 0.657000 24 52 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9011341 9011341 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:9011341C>T ENST00000397910.4 - 36 39095 c.38892G>A c.(38890-38892)agG>agA p.R12964R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12966 SEA 6. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGACTGTTCCTGTCCAGGG 0.547000 23 171 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99454632 99454632 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:99454632G>C ENST00000397899.2 - 3 520 c.189C>G c.(187-189)gtC>gtG p.V63V KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like CGATGGCAATGACCTCATTCC 0.473000 5 68 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 49012274 49012274 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49012274G>A ENST00000356401.4 + 10 1252 c.913G>A c.(913-915)Gag>Aag p.E305K ARIH2_ENST00000449376.1_Missense_Mutation_p.E305K|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 305 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) CATCTGCATTGAGAAGAATGG 0.483000 4 73 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453968 84453968 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:84453968C>T ENST00000377084.2 - 1 2560 c.1675G>A c.(1675-1677)Gag>Aag p.E559K NM_001281503.1|NM_052910.1 NP_001268432.1|NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 559 LRRCT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACCGGCGTCTCACACTTGAGG 0.542000 3 26 0 0 1 0 0 POU3F2 5454 broad.mit.edu 37 6 99283560 99283560 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:99283560G>A ENST00000328345.5 + 1 981 c.811G>A c.(811-813)Gag>Aag p.E271K NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 271 POU-specific. positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) GGACGACCTGGAGCAGTTCGC 0.697000 21 124 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444684 49444684 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:49444684G>A ENST00000301067.7 - 10 2781 c.2782C>T c.(2782-2784)Cag>Tag p.Q928* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGCATCAGCTGAGGCGACAAG 0.547000 10 57 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150908620 150908620 + Nonsense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:150908620C>T ENST00000474524.1 + 13 1908 c.1870C>T c.(1870-1872)Cga>Tga p.R624* MED12L_ENST00000309237.4_Nonsense_Mutation_p.R624*|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R484*|MED12L_ENST00000422248.2_Nonsense_Mutation_p.R624* NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 624 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTCATATCTCGAGGAGATTT 0.483000 10 39 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48607900 48607900 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:48607900C>T ENST00000354276.3 - 4 529 c.202G>A c.(202-204)Gaa>Aaa p.E68K PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E78K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E68K|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.E68K NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 68 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) AGGCCCTGTTCTTTCATCTCA 0.547000 20 49 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48697021 48697021 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:48697021G>A ENST00000544264.1 - 1 3327 c.3047C>T c.(3046-3048)tCt>tTt p.S1016F CELSR3_ENST00000164024.4_Missense_Mutation_p.S1016F Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1016 Cadherin 7. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GACAATTCCAGAGGTGGGCTC 0.552000 31 84 0 0 1 0 0 LINC00173 100287569 broad.mit.edu 37 12 116972650 116972650 + RNA SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:116972650G>A ENST00000480237.1 + 0 921 NR_027345.1 TTCCCGGGCAGCCGCTGCAAC 0.617000 13 28 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127724818 127724818 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:127724818G>T ENST00000368679.4 - 21 2744 c.2435C>A c.(2434-2436)cCc>cAc p.P812H NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 812 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) AGTTGACTGGGGCTGAGGGAC 0.587000 42 26 1.5731e-28 1.94399e-28 1 1 0 AKAP3 10566 broad.mit.edu 37 12 4737187 4737187 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:4737187G>C ENST00000545990.2 - 5 1405 c.881C>G c.(880-882)tCt>tGt p.S294C RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S294C NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 294 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CATCATATCAGATACCACACT 0.458000 8 43 0 0 1 0 0 TFG 10342 broad.mit.edu 37 3 100455446 100455446 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:100455446C>T ENST00000240851.4 + 6 947 c.607C>T c.(607-609)Cgt>Tgt p.R203C TFG_ENST00000476228.1_Missense_Mutation_p.R203C|TFG_ENST00000418917.2_Missense_Mutation_p.R203C|TFG_ENST00000490574.1_Missense_Mutation_p.R203C NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 203 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 TGCAGAAGATCGTTCAGGAAC 0.527000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 8 42 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41195241 41195241 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:41195241A>G ENST00000220509.5 + 5 2963 c.2624A>G c.(2623-2625)cAt>cGt p.H875R NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 875 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CATATGTTCCATGCTGACTGC 0.642000 19 44 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167168230 167168230 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:167168230C>A ENST00000303354.6 - 2 377 c.37G>T c.(37-39)Gtc>Ttc p.V13F SCN9A_ENST00000409435.1_Missense_Mutation_p.V13F|SCN9A_ENST00000409672.1_Missense_Mutation_p.V13F|SCN9A_ENST00000375387.4_Missense_Mutation_p.V13F Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 13 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GTGAAATGGACAAAGCTCTGA 0.418000 35 37 2.6416e-12 3.04761e-12 1 1 0 ABCA8 10351 broad.mit.edu 37 17 66925281 66925281 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:66925281C>T ENST00000269080.2 - 8 1171 c.1034G>A c.(1033-1035)gGg>gAg p.G345E ABCA8_ENST00000586539.1_Missense_Mutation_p.G345E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G345E NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 345 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TGATGTGAACCCCAGACACCC 0.483000 21 14 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274472 68274472 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr14:68274472C>G ENST00000347230.4 - 5 667 c.529G>C c.(529-531)Gag>Cag p.E177Q ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E177Q NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 177 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCATCCTCCTCAAGCAGGAGC 0.607000 5 114 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 36923421 36923421 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:36923421G>C ENST00000358127.4 - 7 915 c.841C>G c.(841-843)Ctg>Gtg p.L281V PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.L238V|PAX5_ENST00000523145.1_Missense_Mutation_p.L173V|PAX5_ENST00000446742.1_Missense_Mutation_p.L215V|PAX5_ENST00000377847.2_Missense_Mutation_p.L281V|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.L238V|PAX5_ENST00000377853.2_Missense_Mutation_p.L281V|PAX5_ENST00000522003.1_Missense_Mutation_p.L173V|PAX5_ENST00000377852.2_Missense_Mutation_p.L281V NM_001280554.1|NM_001280556.1|NM_016734.1 NP_001267483.1|NP_001267485.1|NP_057953.1 Q02548 PAX5_HUMAN paired box 5 281 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(23) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGGCTGGCCAGATTGGCCTTC 0.607000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 4 41 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32841967 32841967 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:32841967C>T ENST00000397452.1 - 5 501 c.391G>A c.(391-393)Gct>Act p.A131T BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.A131T|BPIFC_ENST00000432451.2_5'UTR Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 131 extracellular region lipopolysaccharide binding|phospholipid binding AACAGATCAGCCCCTCCTGTG 0.473000 47 27 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71654463 71654463 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:71654463G>C ENST00000409544.1 + 24 6094 c.5464G>C c.(5464-5466)Gaa>Caa p.E1822Q ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.E762Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1822Q NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1822 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GACAAAACTTGAATCCTTGTC 0.368000 8 41 0 0 1 0 0 UTS2B 257313 broad.mit.edu 37 3 190993107 190993107 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:190993107C>A ENST00000340524.5 - 8 1054 c.268G>T c.(268-270)Gag>Tag p.E90* UTS2B_ENST00000427544.2_Nonsense_Mutation_p.E90* NM_198152.3 NP_937795.2 urotensin 2B TCCTTCTCCTCCACTAGCTGT 0.393000 78 70 1.13027e-35 1.41984e-35 1 1 0 ALG2 85365 broad.mit.edu 37 9 101984089 101984089 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:101984089C>A ENST00000476832.1 - 1 149 c.88G>T c.(88-90)Gag>Tag p.E30* NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 30 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) ACCAGCCGCTCAGCGCCGCCC 0.711000 4 14 1 1 1 1 0 LARP1B 55132 broad.mit.edu 37 4 129019483 129019483 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:129019483G>C ENST00000326639.6 + 8 1022 c.811G>C c.(811-813)Gag>Cag p.E271Q LARP1B_ENST00000394288.3_Missense_Mutation_p.E271Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.E271Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.E224Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.E271Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.E271Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.E271Q NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 271 HTH La-type RNA-binding. RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TCTCATCTTAGAGGTAATTGC 0.378000 22 49 0 0 1 0 0 GM2A 2760 broad.mit.edu 37 5 150632783 150632783 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:150632783G>A ENST00000357164.3 + 1 331 c.6G>A c.(4-6)caG>caA p.Q2Q NM_000405.4|NM_001167607.1 NP_000396.2|NP_001161079.1 P17900 SAP3_HUMAN GM2 ganglioside activator 2 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCGATGCAGTCCCTGATGC 0.577000 18 21 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79041275 79041275 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:79041275G>A ENST00000446378.2 + 4 10996 c.10965G>A c.(10963-10965)ctG>ctA p.L3655L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3655 B-box coiled-coil; BBC. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCGTCTTCCTGACTGTAAGTG 0.458000 4 34 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44053481 44053481 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:44053481C>G ENST00000306006.6 - 2 699 c.47G>C c.(46-48)cGa>cCa p.R16P ZNF239_ENST00000374446.2_Missense_Mutation_p.R16P|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.R16P|ZNF239_ENST00000535642.1_Missense_Mutation_p.R16P NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CACTTCCCCTCGATGATTCAC 0.458000 4 42 0 0 1 0 0 TEX9 374618 broad.mit.edu 37 15 56686886 56686886 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:56686886C>G ENST00000558083.2 + 8 787 c.457C>G c.(457-459)Caa>Gaa p.Q153E TEX9_ENST00000537232.1_Missense_Mutation_p.Q153E|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000352903.2_Missense_Mutation_p.Q228E|TEX9_ENST00000561221.2_Missense_Mutation_p.Q228E Q8N6V9 TEX9_HUMAN testis expressed 9 228 cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TTTAAAGTCTCAAGTAAAAAA 0.264000 5 22 0 0 1 0 0 IGKV4-1 28908 broad.mit.edu 37 2 89185429 89185429 + RNA SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:89185429C>G ENST00000390243.2 + 0 298 GGGCCACCATCAACTGCAAGT 0.502000 5 40 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170010 58170010 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:58170010C>G ENST00000309403.2 - 1 872 c.873G>C c.(871-873)agG>agC p.R291S NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTTCCTTGTTCCTCAGACTAT 0.443000 28 54 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31484565 31484565 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:31484565C>T ENST00000322054.5 + 5 1351 c.1066C>T c.(1066-1068)Ctg>Ttg p.L356L EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 356 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CTTCCCCAATCTGAAGAGGAT 0.587000 9 71 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725757 140725757 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140725757G>T ENST00000253812.6 + 1 2157 c.2157G>T c.(2155-2157)tgG>tgT p.W719C PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGCGCTGGCACAAGTCAC 0.677000 24 98 9.86323e-18 1.18515e-17 1 1 0 CLMN 79789 broad.mit.edu 37 14 95670147 95670147 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr14:95670147C>G ENST00000298912.4 - 9 1652 c.1539G>C c.(1537-1539)gaG>gaC p.E513D NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 513 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GGGCTGTACTCTCTAAAGCAC 0.463000 6 37 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083606 42083606 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:42083606C>T ENST00000187608.9 + 2 159 c.119C>T c.(118-120)tCa>tTa p.S40L CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S40L NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 40 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 TTTATTGCATCAGCGCCCTTT 0.463000 25 44 0 0 1 0 0 MED27 9442 broad.mit.edu 37 9 134738497 134738497 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:134738497G>A ENST00000292035.5 - 7 817 c.754C>T c.(754-756)Cac>Tac p.H252Y MED27_ENST00000357028.2_Missense_Mutation_p.H216Y NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 252 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) AGCTGATAGTGGAGCAGGGCA 0.527000 14 21 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21008761 21008761 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:21008761C>G ENST00000261383.3 - 44 6444 c.6445G>C c.(6445-6447)Gag>Cag p.E2149Q DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2149 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCATACACCTCTTTGGCTGGC 0.502000 9 60 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29867305 29867305 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:29867305C>T ENST00000399218.4 - 4 1310 c.1255G>A c.(1255-1257)Gac>Aac p.D419N GAREM_ENST00000269209.6_Missense_Mutation_p.D419N NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 GGCAGGATGTCATGAGGAAAG 0.532000 10 82 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12985093 12985093 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:12985093G>A ENST00000251472.4 + 26 4161 c.4122G>A c.(4120-4122)gcG>gcA p.A1374A NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1374 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CACCCCGCGCGACGACCCCCG 0.741000 4 14 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544433 115544433 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:115544433G>T ENST00000310836.6 + 2 919 c.397G>T c.(397-399)Gac>Tac p.D133Y UGT8_ENST00000394511.3_Missense_Mutation_p.D133Y NM_001128174.1 NP_001121646 Q16880 CGT_HUMAN UDP glycosyltransferase 8 133 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AGAAAAATTTGACCTGCTGCT 0.428000 47 80 6.27289e-28 7.73614e-28 1 1 0 OVGP1 5016 broad.mit.edu 37 1 111965674 111965674 + Splice_Site SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:111965674C>T ENST00000369732.3 - 6 539 c.e6-1 OVGP1_ENST00000540696.1_Splice_Site NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) ACAGGAGCTCCTAAGAGGAAA 0.567000 4 61 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100404991 100404991 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:100404991G>A ENST00000358173.3 - 13 2798 c.2330C>T c.(2329-2331)tCc>tTc p.S777F EPHB4_ENST00000360620.3_Missense_Mutation_p.S777F NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 777 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CATTACCAGGGAGCTCGTGTA 0.572000 3 42 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144904670 144904670 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:144904670C>G ENST00000529945.1 - 16 3570 c.3131G>C c.(3130-3132)aGa>aCa p.R1044T PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R881T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1018T|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R881T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R947T|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R881T|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1018T|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R1044T|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R668T|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R881T Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 881 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATAGAGCTGTCTCTCTGCTTG 0.413000 T PDGFRB MPD 124 206 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65499184 65499184 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:65499184G>A ENST00000261883.4 - 4 526 c.360C>T c.(358-360)ctC>ctT p.L120L NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 120 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GCTCCCTGTTGAGGCACCAGA 0.647000 6 53 0 0 1 0 0 MRPS18B 28973 broad.mit.edu 37 6 30593441 30593441 + Missense_Mutation SNP G G A rs144633864 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:30593441G>A ENST00000259873.4 + 7 801 c.644G>A c.(643-645)cGc>cAc p.R215H MRPS18B_ENST00000506373.2_3'UTR|MRPS18B_ENST00000472229.1_3'UTR NM_014046.3 NP_054765.1 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B 215 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2) 13 GAACTGTCTCGCCTTCGCCGG 0.617000 25 63 0 0 1 0 0 LANCL2 55915 broad.mit.edu 37 7 55479717 55479717 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:55479717G>A ENST00000254770.2 + 6 1521 c.943G>A c.(943-945)Gac>Aac p.D315N NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 315 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) CAATGAAACAGACCGGCTGGT 0.537000 6 84 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103287807 103287807 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:103287807T>A ENST00000520539.1 - 47 7277 c.6671A>T c.(6670-6672)aAa>aTa p.K2224I UBR5_ENST00000220959.4_Missense_Mutation_p.K2224I|UBR5_ENST00000521922.1_Missense_Mutation_p.K2218I NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2224 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTGCGGAATTTTGATTCTTT 0.338000 26 105 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530011 80530011 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:80530011C>G ENST00000295057.3 - 2 1590 c.934G>C c.(934-936)Gcc>Ccc p.A312P CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A312P|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 312 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AGGTTCCCGGCCAGGGTGATG 0.637000 HNSCC(69;0.2) 11 24 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807128 22807128 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:22807128C>T ENST00000361524.3 - 4 902 c.754G>A c.(754-756)Gag>Aag p.E252K ZNF521_ENST00000584787.1_Missense_Mutation_p.E32K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E252K NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 252 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AAGCCTTCCTCACACTGACTG 0.552000 T PAX5 ALL 31 69 0 0 1 0 0 YIPF3 25844 broad.mit.edu 37 6 43483806 43483806 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:43483806C>A ENST00000372422.2 - 2 291 c.109G>T c.(109-111)Gag>Tag p.E37* YIPF3_ENST00000506469.1_Nonsense_Mutation_p.E43* NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 37 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) TCCATGTTCTCCATGTCAATC 0.537000 3 35 1 1 1 1 0 OGDH 4967 broad.mit.edu 37 7 44715703 44715703 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:44715703G>C ENST00000222673.5 + 9 1203 c.1161G>C c.(1159-1161)aaG>aaC p.K387N OGDH_ENST00000444676.1_Missense_Mutation_p.K402N|OGDH_ENST00000443864.2_Missense_Mutation_p.K387N|OGDH_ENST00000449767.1_Missense_Mutation_p.K383N|OGDH_ENST00000439616.2_Missense_Mutation_p.K237N|OGDH_ENST00000543843.1_Missense_Mutation_p.K338N|OGDH_ENST00000447398.1_Missense_Mutation_p.K398N NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 387 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TGATGGGCAAGACCAAAGCCG 0.562000 13 95 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223989919 223989919 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:223989919G>A ENST00000391878.2 - 10 1505 c.737C>T c.(736-738)cCa>cTa p.P246L TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P375L NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 369 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CGGCAGGGCTGGCTTCACCAG 0.557000 12 87 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566554 55566554 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:55566554G>A ENST00000373965.2 - 36 5234 c.4840C>T c.(4840-4842)Ctg>Ttg p.L1614L PCDH15_ENST00000414778.1_Silent_p.L1611L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AATGTAACCAGAGTTGGTCTT 0.453000 HNSCC(58;0.16) 27 122 0 0 1 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140787882 140787882 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140787882C>T ENST00000520790.1 + 1 113 c.113C>T c.(112-114)cCg>cTg p.P38L PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTCGATTCCGGAGGAGCTG 0.652000 OREG0016861 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 17 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76831829 76831829 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:76831829C>T ENST00000278559.3 + 10 1550 c.1361C>T c.(1360-1362)tCa>tTa p.S454L CAPN5_ENST00000529629.1_Missense_Mutation_p.S454L|CAPN5_ENST00000456580.2_Missense_Mutation_p.S494L|CAPN5_ENST00000531028.1_Intron NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 454 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 TACATCAACTCACGCAGCGTC 0.657000 7 75 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87362240 87362240 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:87362240G>T ENST00000327946.7 - 16 2905 c.2820C>A c.(2818-2820)agC>agA p.S940R GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S511R NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 940 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGAGTGTCCGGCTGGTGCCAT 0.652000 Multiple Myeloma(13;0.14) 13 9 0.00010058 0.000106352 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33658329 33658329 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:33658329G>A ENST00000504830.1 - 7 1485 c.1150C>T c.(1150-1152)Ctc>Ttc p.L384F ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L384F NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 384 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCCAGAGGGAGTCCCGAATCT 0.507000 HNSCC(64;0.19) 75 72 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146031255 146031255 + Splice_Site SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:146031255G>A ENST00000296577.4 + 6 921 c.406G>A c.(406-408)Gat>Aat p.D136N ABCE1_ENST00000502803.1_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 136 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) TTTTTTTTAGGATCCTCCTGA 0.303000 4 22 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8738751 8738751 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:8738751C>T ENST00000311434.9 - 8 723 c.484G>A c.(484-486)Gag>Aag p.E162K PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 162 platelet activation cytosol GACACCAGCTCAGGATCCACG 0.607000 4 29 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301729 110301729 + Missense_Mutation SNP A A C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:110301729A>C ENST00000369805.3 - 6 645 c.416T>G c.(415-417)cTg>cGg p.L139R EPS8L3_ENST00000361852.4_Missense_Mutation_p.L139R|EPS8L3_ENST00000361965.4_Missense_Mutation_p.L139R|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA NM_139053.2 NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 139 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GCTGGTCTTCAGTCGCTCTGC 0.617000 4 9 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903378 5903378 + Missense_Mutation SNP C C A rs149359798 by1000genomes TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:5903378C>A ENST00000378961.4 + 4 792 c.588C>A c.(586-588)aaC>aaA p.N196K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 196 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGACACAAAACGCTTTTCTCA 0.483000 27 78 7.07758e-08 7.80974e-08 1 1 0 RHOA 387 broad.mit.edu 37 3 49412903 49412903 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49412903C>G ENST00000418115.1 - 2 504 c.120G>C c.(118-120)gaG>gaC p.E40D RHOA_ENST00000454011.2_Missense_Mutation_p.E40D|RHOA_ENST00000422781.1_Missense_Mutation_p.E40D NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 40 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) CCACATAGTTCTCAAACACTG 0.438000 44 107 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87936104 87936104 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:87936104G>T ENST00000309893.2 - 4 547 c.482C>A c.(481-483)tCt>tAt p.S161Y NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 161 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding p.S161Y(1) large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) GTATTTCACAGAATTCCAGTG 0.408000 4 46 0.014758 0.0149548 1 1 0 DUSP10 11221 broad.mit.edu 37 1 221912583 221912583 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:221912583C>T ENST00000366899.3 - 2 742 c.504G>A c.(502-504)ccG>ccA p.P168P DUSP10_ENST00000323825.3_Intron NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 168 Rhodanese. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) GGCCCTGACTCGGCAGGTGAC 0.517000 4 72 0 0 1 0 0 MSGN1 343930 broad.mit.edu 37 2 17997869 17997869 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:17997869C>G ENST00000281047.3 + 1 107 c.84C>G c.(82-84)gaC>gaG p.D28E NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 28 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTCCTGGGACTGGAAGGACA 0.612000 24 49 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9236988 9236988 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:9236988C>T ENST00000305444.2 - 1 638 c.639G>A c.(637-639)ggG>ggA p.G213G NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 AGAAAATGATCCCAGAGAGAG 0.428000 8 61 0 0 1 0 0 VPS45 11311 broad.mit.edu 37 1 150064444 150064444 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:150064444G>A ENST00000369130.3 + 12 1858 c.1312G>A c.(1312-1314)Gac>Aac p.D438N VPS45_ENST00000535106.1_Missense_Mutation_p.D369N|VPS45_ENST00000369128.5_Missense_Mutation_p.D333N NM_001279354.1|NM_007259.3 NP_001266283.1|NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 438 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGAGGAAGTGACCTCTTCAG 0.438000 19 42 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455625 50455625 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:50455625C>A ENST00000447370.2 - 9 1768 c.1678G>T c.(1678-1680)Ggc>Tgc p.G560C CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G464C NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 560 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GCCCCCAGGCCAAGTCCTCCC 0.652000 58 32 1.72039e-30 2.13905e-30 1 1 0 BMPR2 659 broad.mit.edu 37 2 203397313 203397313 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:203397313C>G ENST00000374580.4 + 9 1673 c.1134C>G c.(1132-1134)ggC>ggG p.G378G BMPR2_ENST00000374574.2_Silent_p.G378G NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 378 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 ATCAGGTTGGCACTATCAGAT 0.368000 19 20 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066699 9066699 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:9066699G>T ENST00000397910.4 - 3 20950 c.20747C>A c.(20746-20748)cCa>cAa p.P6916Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6918 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTATCCATTGGAGCTGTGGC 0.463000 88 95 9.10895e-26 1.11658e-25 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51611556 51611556 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:51611556C>G ENST00000371117.3 - 59 10236 c.9961G>C c.(9961-9963)Gat>Cat p.D3321H PKHD1_ENST00000340994.4_Missense_Mutation_p.D3321H NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3321 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTGTTTTTATCTTTTATCTTT 0.358000 4 38 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60505720 60505720 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:60505720C>A ENST00000371201.3 - 5 723 c.616G>T c.(616-618)Gac>Tac p.D206Y C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 206 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GAGATTGGGTCCAGGATCTTC 0.433000 21 66 1.50039e-11 1.7212e-11 1 1 0 SYNDIG1 79953 broad.mit.edu 37 20 24524196 24524196 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:24524196G>C ENST00000376862.3 + 2 1096 c.463G>C c.(463-465)Gag>Cag p.E155Q NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 155 Poly-Glu. response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GGAGGAGGAGGAGTTCCAGGA 0.532000 13 156 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133072386 133072386 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:133072386G>A ENST00000326499.6 - 5 1222 c.1098C>T c.(1096-1098)tgC>tgT p.C366C VNN2_ENST00000525270.1_Silent_p.C313C|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656 O95498 VNN2_HUMAN vanin 2 366 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TTAAATGACAGCAAAGCTCCT 0.393000 55 68 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 881651 881651 + Missense_Mutation SNP C C T rs143512436 byFrequency TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:881651C>T ENST00000312090.6 - 7 1199 c.1049G>A c.(1048-1050)cGt>cAt p.R350H MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.R350H|MED16_ENST00000325464.1_Missense_Mutation_p.R350H|MED16_ENST00000395808.3_Missense_Mutation_p.R350H|MED16_ENST00000269814.4_Missense_Mutation_p.R350H Q9Y2X0 MED16_HUMAN mediator complex subunit 16 350 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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) GGCCGACACACGGTCCAGATC 0.587000 11 93 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092405 35092405 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:35092405C>T ENST00000378617.3 - 7 1873 c.1479G>A c.(1477-1479)ggG>ggA p.G493G PIGO_ENST00000341666.3_Silent_p.G493G|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 493 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACGCTATGGCCCCAACCAGGC 0.552000 20 26 0 0 1 0 0 RHEB 6009 broad.mit.edu 37 7 151181864 151181864 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:151181864C>T ENST00000262187.5 - 3 563 c.151G>A c.(151-153)Gga>Aga p.G51R RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR NM_005614.3 NP_005605.1 Q15382 RHEB_HUMAN Ras homolog enriched in brain 51 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7) 14 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) TATTCTTGTCCATTTACTGTG 0.363000 6 53 0 0 1 0 0 CYB561A3 220002 broad.mit.edu 37 11 61121366 61121366 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:61121366C>A ENST00000426130.2 - 5 1113 c.334G>T c.(334-336)Gtt>Ttt p.V112F CYB561A3_ENST00000294072.4_Missense_Mutation_p.V95F|CYB561A3_ENST00000536915.1_Missense_Mutation_p.V95F|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.V95F|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000540317.1_5'UTR NM_001161454.1 NP_001154926.1 cytochrome b561 family, member A3 AGCCCCACAACAGTGAGGACG 0.587000 10 51 4.68919e-08 5.2026e-08 1 1 0 RBPJL 11317 broad.mit.edu 37 20 43941004 43941004 + Silent SNP G G T rs148623085 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:43941004G>T ENST00000343694.3 + 6 660 c.588G>T c.(586-588)tcG>tcT p.S196S RBPJL_ENST00000372743.1_Silent_p.S196S|RBPJL_ENST00000372741.3_Silent_p.S196S NM_001281448.1|NM_001281449.1|NM_014276.2 NP_001268377.1|NP_001268378.1|NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 196 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CGAAGCCCTCGCAGAAGAAGC 0.652000 9 25 1.58986e-06 1.72e-06 1 1 0 ETFB 2109 broad.mit.edu 37 19 51850245 51850245 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:51850245C>A ENST00000354232.4 - 4 3246 c.779G>T c.(778-780)gGc>gTc p.G260V ETFB_ENST00000309244.4_Missense_Mutation_p.G169V|CTD-2616J11.9_ENST00000600974.1_RNA NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 169 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) GGTCTCCAGGCCCCCATCGAT 0.647000 4 17 0.014758 0.0149548 1 1 0 PER2 8864 broad.mit.edu 37 2 239185835 239185835 + Splice_Site SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:239185835C>T ENST00000254657.3 - 3 510 c.e3-1 PER2_ENST00000440245.1_Splice_Site|PER2_ENST00000254658.3_Splice_Site|PER2_ENST00000355768.2_Splice_Site NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGTATCTGGACTATGAAAACA 0.393000 778 46 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99525457 99525457 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:99525457C>T ENST00000375231.1 - 5 945 c.295G>A c.(295-297)Gag>Aag p.E99K ZNF510_ENST00000223428.4_Missense_Mutation_p.E99K|ZNF510_ENST00000472201.1_5'UTR Q9Y2H8 ZN510_HUMAN zinc finger protein 510 99 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) TCTCCTTGCTCCAACTTGAAG 0.433000 10 67 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7036027 7036027 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:7036027C>T ENST00000389658.3 - 13 1891 c.1798G>A c.(1798-1800)Gta>Ata p.V600I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 600 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTACTGTCTACCGTCTCTACC 0.448000 16 33 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47912921 47912921 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:47912921G>C ENST00000507489.1 - 3 502 c.326C>G c.(325-327)tCt>tGt p.S109C NFXL1_ENST00000329043.3_Missense_Mutation_p.S109C|NFXL1_ENST00000381538.3_Missense_Mutation_p.S109C NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 109 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TCCTTCTTCAGATGAAGAGCT 0.328000 16 26 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691974 31691974 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:31691974G>A ENST00000360542.3 - 1 633 c.380C>T c.(379-381)cCg>cTg p.P127L NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 127 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 ATTGAGCAGCGGCCTCAGTGG 0.537000 88 101 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197029614 197029614 + Missense_Mutation SNP T T G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:197029614T>G ENST00000367412.1 - 5 730 c.687A>C c.(685-687)caA>caC p.Q229H NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 229 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTTCATAGGTTTGCTTTACAG 0.284000 29 64 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48385495 48385495 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:48385495G>A ENST00000285737.4 + 15 2434 c.2341G>A c.(2341-2343)Ggt>Agt p.G781S LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.G737S NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 781 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTTACAGGTGGGTGGAATTAA 0.438000 3 31 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579374 7579374 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:7579374C>A ENST00000420246.2 - 4 445 c.313G>T c.(313-315)Ggc>Tgc p.G105C TP53_ENST00000269305.4_Missense_Mutation_p.G105C|TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 105 Interaction with HIPK1 (By similarity).|Interaction with WWOX. G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGTAGCTGCCCTGGTAGGTT 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 32 11 2.08457e-15 2.461e-15 1 1 0 GORAB 92344 broad.mit.edu 37 1 170513848 170513848 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:170513848C>T ENST00000367763.3 + 4 619 c.599C>T c.(598-600)tCc>tTc p.S200F GORAB_ENST00000367762.1_Missense_Mutation_p.S200F NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 200 Golgi apparatus|nucleus p.S200F(1) endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TTTTCTAGATCCAAAAGAACT 0.383000 8 90 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936960 15936960 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:15936960C>T ENST00000504595.1 + 4 1622 c.1141C>T c.(1141-1143)Ctc>Ttc p.L381F FBXL7_ENST00000329673.7_Missense_Mutation_p.L369F|FBXL7_ENST00000510662.1_Missense_Mutation_p.L334F NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 381 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GCTGCGCTACCTCAACGCGAG 0.627000 24 17 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31477702 31477702 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:31477702C>T ENST00000408912.3 + 8 2902 c.2585C>T c.(2584-2586)tCa>tTa p.S862L ARMC5_ENST00000538189.1_Missense_Mutation_p.S799L|ARMC5_ENST00000412665.2_Missense_Mutation_p.S411L|ARMC5_ENST00000563544.1_Missense_Mutation_p.S767L|ARMC5_ENST00000268314.4_Missense_Mutation_p.S767L|ARMC5_ENST00000457010.2_3'UTR Q96C12 ARMC5_HUMAN armadillo repeat containing 5 767 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CGAGCGGCCTCAGCCACCGCC 0.677000 3 30 0 0 1 0 0 CARD18 59082 broad.mit.edu 37 11 105009559 105009559 + Nonsense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:105009559G>C ENST00000530950.1 - 2 253 c.254C>G c.(253-255)tCa>tGa p.S85* CARD18_ENST00000526823.1_Nonsense_Mutation_p.S46*|CARD18_ENST00000532895.1_Nonsense_Mutation_p.S46* NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 85 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 ACCCATCTTTGAGGCAAGTTG 0.408000 15 142 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420449 27420449 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:27420449G>C ENST00000211936.6 - 6 1173 c.889C>G c.(889-891)Caa>Gaa p.Q297E ZNF184_ENST00000377419.1_Missense_Mutation_p.Q297E NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TGAATTCTTTGATGTTGAGTA 0.368000 8 62 0 0 1 0 0 TNNI1 7135 broad.mit.edu 37 1 201380632 201380632 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:201380632G>T ENST00000361379.4 - 7 401 c.309C>A c.(307-309)gaC>gaA p.D103E TNNI1_ENST00000367312.1_Missense_Mutation_p.D103E|TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000336092.4_Missense_Mutation_p.D103E NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 103 Involved in binding TNC and actin. D -> A (in Ref. 5; CAD91135). muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 TCCCACGGAGGTCCATCACCT 0.632000 14 14 0.00400662 0.00413587 1 1 0 COL1A2 1278 broad.mit.edu 37 7 94040248 94040248 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:94040248C>T ENST00000297268.6 + 22 1716 c.1245C>T c.(1243-1245)ggC>ggT p.G415G NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 415 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCAGAGCTGGCGTCATGGTAA 0.463000 HNSCC(75;0.22) 20 36 0 0 1 0 0 AMT 275 broad.mit.edu 37 3 49456695 49456695 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49456695C>G ENST00000273588.3 - 6 996 c.694G>C c.(694-696)Gag>Cag p.E232Q AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.E135Q|AMT_ENST00000395338.2_Missense_Mutation_p.E232Q|AMT_ENST00000458307.2_Missense_Mutation_p.E188Q|AMT_ENST00000538581.1_Missense_Mutation_p.E176Q NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase 232 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TGACACACCTCCACACCATCC 0.597000 12 10 0 0 1 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80199402 80199402 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:80199402G>A ENST00000450142.2 - 14 2236 c.1970C>T c.(1969-1971)tCc>tTc p.S657F PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S570F|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S657F|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S601F|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S657F NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 657 Ser/Thr-rich. contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 TGTTGTGGAGGAGACAGTGCC 0.458000 16 29 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8616632 8616632 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:8616632C>T ENST00000338257.8 - 8 1030 c.763G>A c.(763-765)Gag>Aag p.E255K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 255 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 ACCAGAGTCTCACCAAAGTCG 0.577000 12 53 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70333655 70333655 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:70333655G>A ENST00000373644.4 + 2 1769 c.1560G>A c.(1558-1560)gaG>gaA p.E520E NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 520 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TAGCCCCTGAGAGAGGACTCT 0.498000 9 46 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32148967 32148967 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:32148967C>T ENST00000373672.3 - 35 2899 c.2383G>A c.(2383-2385)Gag>Aag p.E795K COL16A1_ENST00000271069.6_Missense_Mutation_p.E794K|COL16A1_ENST00000373668.3_Missense_Mutation_p.E795K NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 795 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCTCCAGGCTCCCCCTGCAAG 0.617000 18 129 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749383 22749383 + RNA SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:22749383C>G ENST00000503442.1 + 0 377 GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CACTTTCCATCTGGATTTATT 0.443000 10 71 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17023340 17023340 + RNA SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:17023340C>T ENST00000492551.1 - 0 1607 NR_026567.1 GCGTCGGCTTCAGGCTCTTGC 0.617000 3 26 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56342268 56342268 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:56342268C>A ENST00000370754.5 - 91 21456 c.21457G>T c.(21457-21459)Gaa>Taa p.E7153* DST_ENST00000370788.2_Nonsense_Mutation_p.E4778*|DST_ENST00000446842.2_Nonsense_Mutation_p.E6649*|DST_ENST00000244364.6_Nonsense_Mutation_p.E4561*|DST_ENST00000361203.3_Nonsense_Mutation_p.E6864*|DST_ENST00000421834.2_Nonsense_Mutation_p.E4887*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.E6975* Q03001 DYST_HUMAN dystonin 6973 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTCTTTTCTTCCAGTTTCTTC 0.433000 40 78 2.59497e-14 3.05173e-14 1 1 0 PTH2R 5746 broad.mit.edu 37 2 209358037 209358037 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:209358037G>T ENST00000272847.2 + 13 1519 c.1306G>T c.(1306-1308)Gac>Tac p.D436Y PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 436 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CCTCTCCGTGGACTGGAAAAG 0.587000 20 10 4.96729e-08 5.50112e-08 1 1 0 ACY3 91703 broad.mit.edu 37 11 67413351 67413351 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:67413351G>T ENST00000255082.3 - 4 414 c.244C>A c.(244-246)Ccc>Acc p.P82T ACY3_ENST00000529256.1_5'UTR NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 82 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) TCCGGGGTGGGCCTGGAACTG 0.612000 27 22 2.24059e-21 2.71371e-21 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49448439 49448439 + Nonsense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:49448439C>T ENST00000301067.7 - 3 271 c.272G>A c.(271-273)tGg>tAg p.W91* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ACACCGGGGCCAATCAAATGG 0.637000 4 8 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086421 56086421 + Silent SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:56086421A>T ENST00000312711.1 + 1 639 c.639A>T c.(637-639)atA>atT p.I213I NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CTCTTCTGATAGTTCTTTTAT 0.393000 24 60 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978315 58978315 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:58978315G>T ENST00000361050.3 - 1 2109 c.2024C>A c.(2023-2025)gCc>gAc p.A675D NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 675 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GCCGTAGATGGCCAAGGTGAT 0.537000 51 45 9.52127e-25 1.16477e-24 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058330 11058330 + RNA SNP G G A rs138162498 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:11058330G>A ENST00000470054.1 - 0 324 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) ATCGCTGAAAGGGGTAAAGGA 0.378000 10 164 0 0 1 0 0 TRMT12 55039 broad.mit.edu 37 8 125463956 125463956 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:125463956C>T ENST00000328599.3 + 1 909 c.788C>T c.(787-789)gCt>gTt p.A263V TRMT12_ENST00000521443.1_Intron NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 263 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTCGTCCATGCTTGTGAGTGG 0.458000 13 272 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42751257 42751257 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:42751257G>C ENST00000310232.6 - 15 1990 c.1907C>G c.(1906-1908)aCc>aGc p.T636S NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 636 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CTCGCTCCCGGTTGGGTTGTG 0.607000 26 49 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29588977 29588977 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:29588977G>A ENST00000377034.4 - 11 1559 c.1224C>T c.(1222-1224)atC>atT p.I408I GABBR1_ENST00000376977.3_Silent_p.I408I|GABBR1_ENST00000377012.4_Silent_p.I291I|GABBR1_ENST00000355973.3_Silent_p.I291I|GABBR1_ENST00000377016.4_Silent_p.I346I NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 408 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CTGTGCAGTTGATAGAAGGGT 0.493000 6 42 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589325 140589325 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140589325C>A ENST00000239450.2 + 1 1035 c.846C>A c.(844-846)tcC>tcA p.S282S PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 282 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATACCTTTTCCCATGCCTCAG 0.408000 29 84 2.65835e-16 3.15063e-16 1 1 0 NAA25 80018 broad.mit.edu 37 12 112509733 112509733 + Silent SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:112509733T>C ENST00000261745.4 - 10 1250 c.1002A>G c.(1000-1002)ttA>ttG p.L334L NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 334 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 CTTGACTTCGTAAACGCCTAA 0.413000 51 71 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52909830 52909830 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:52909830C>T ENST00000391788.2 + 6 698 c.175C>T c.(175-177)Ctg>Ttg p.L59L ZNF528_ENST00000594530.1_Silent_p.L69L|ZNF528_ENST00000360465.3_Silent_p.L69L|ZNF528_ENST00000598192.1_Silent_p.L69L Q3MIS6 ZN528_HUMAN zinc finger protein 528 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCCCTGGACTCTGCAGAGTGA 0.478000 7 110 0 0 1 0 0 ACADS 35 broad.mit.edu 37 12 121175658 121175658 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:121175658G>A ENST00000242592.4 + 5 642 c.491G>A c.(490-492)gGa>gAa p.G164E ACADS_ENST00000411593.2_Intron NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 164 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) AGTGATGCAGGAGCTGCGTCC 0.662000 9 48 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436062 158436062 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:158436062C>A ENST00000289451.2 + 1 791 c.711C>A c.(709-711)acC>acA p.T237T NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T237T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GATACAAGACCTTCTCCACCT 0.448000 28 52 1.88708e-17 2.25856e-17 1 1 0 NDST4 64579 broad.mit.edu 37 4 115998164 115998164 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:115998164C>T ENST00000264363.2 - 2 707 c.29G>A c.(28-30)aGt>aAt p.S10N NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 10 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGTTCGAAAACTTCTCCGAAG 0.348000 11 20 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89053792 89053792 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:89053792G>T ENST00000286614.6 - 10 2002 c.1721C>A c.(1720-1722)gCc>gAc p.A574D NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 574 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GAGGCATAAGGCCAAGATGCA 0.478000 21 107 1.00905e-13 1.18208e-13 1 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18808793 18808793 + Missense_Mutation SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:18808793A>T ENST00000400664.1 + 1 1370 c.1318A>T c.(1318-1320)Acc>Tcc p.T440S NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 440 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGAGGTGCTGACCTTGGCCAA 0.607000 15 71 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202245818 202245818 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:202245818G>A ENST00000332624.3 - 16 2621 c.2193C>T c.(2191-2193)tcC>tcT p.S731S NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 731 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AGGTTGTAGTGGAATCTCGTC 0.512000 61 27 0 0 1 0 0 P4HTM 54681 broad.mit.edu 37 3 49043284 49043284 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49043284G>A ENST00000343546.4 + 7 1699 c.1331G>A c.(1330-1332)aGa>aAa p.R444K P4HTM_ENST00000383729.4_Missense_Mutation_p.R383K NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 383 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) GCAGATAACAGAACCTACGAT 0.502000 8 49 0 0 1 0 0 ISOC2 79763 broad.mit.edu 37 19 55966382 55966382 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:55966382C>T ENST00000438389.2 - 4 1135 c.301G>A c.(301-303)Gat>Aat p.D101N ISOC2_ENST00000425675.2_Missense_Mutation_p.D171N|ISOC2_ENST00000085068.3_Missense_Mutation_p.D187N NM_001136202.1 NP_001129674.1 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 171 protein destabilization mitochondrion|nucleus catalytic activity|protein binding endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) TGGACGGCATCGCCCACAAGC 0.617000 OREG0025682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 68 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20820969 20820969 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:20820969C>T ENST00000380249.1 + 16 2056 c.1692C>T c.(1690-1692)ttC>ttT p.F564F FOCAD_ENST00000338382.6_Silent_p.F564F|FOCAD_ENST00000605086.1_5'UTR NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 564 integral to membrane binding TGCAGCGTTTCATGGCTGTGT 0.413000 88 82 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1391215 1391215 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:1391215G>T ENST00000259806.1 + 1 1147 c.1033G>T c.(1033-1035)Gcc>Tcc p.A345S NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 345 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CTCGCCTGGCGCCTCGCCTTA 0.706000 4 7 0.0215528 0.0217676 1 1 0 MCTP1 79772 broad.mit.edu 37 5 94206126 94206126 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:94206126T>A ENST00000515393.1 - 16 2311 c.2312A>T c.(2311-2313)aAa>aTa p.K771I MCTP1_ENST00000505208.1_Missense_Mutation_p.K550I|MCTP1_ENST00000312216.8_Missense_Mutation_p.K550I|MCTP1_ENST00000429576.2_Missense_Mutation_p.K504I|MCTP1_ENST00000505078.1_Missense_Mutation_p.K287I NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 771 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TTTTACCTGTTTAGAGAGTCT 0.348000 22 35 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008454 11008454 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:11008454C>A ENST00000377004.4 - 12 1737 c.1738G>T c.(1738-1740)Gag>Tag p.E580* C1orf127_ENST00000377008.4_Nonsense_Mutation_p.E413* NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 431 p.E413K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TGGCCGGGCTCCCCCATGATG 0.652000 8 38 0.000274275 0.000287021 1 1 0 TMEM95 339168 broad.mit.edu 37 17 7259714 7259714 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:7259714G>T ENST00000330767.4 + 6 464 c.437G>T c.(436-438)aGt>aTt p.S146I TMEM95_ENST00000389982.4_Intron|TMEM95_ENST00000576060.1_Missense_Mutation_p.S138I NM_198154.1 NP_937797.1 Q3KNT9 TMM95_HUMAN transmembrane protein 95 138 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) CCTGCAGGAAGTCAGGATCTT 0.582000 OREG0024137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 86 42 1.92282e-43 2.42547e-43 1 1 0 CBX2 84733 broad.mit.edu 37 17 77758355 77758355 + Silent SNP T T G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:77758355T>G ENST00000310942.4 + 5 1217 c.1113T>G c.(1111-1113)ctT>ctG p.L371L NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 371 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGGGTCTCCTTGCCCGCCACG 0.697000 9 18 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25141527 25141527 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:25141527C>G ENST00000260600.5 - 1 1181 c.330G>C c.(328-330)gtG>gtC p.V110V NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 110 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CAATTCCAGCCACGGCGAGGG 0.602000 20 37 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49692247 49692247 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:49692247C>T ENST00000252826.5 + 14 2044 c.1918C>T c.(1918-1920)Cgc>Tgc p.R640C TRPM4_ENST00000427978.2_Missense_Mutation_p.R640C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R286C NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 640 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GAGGGCTGCCCGCCTCCTCCT 0.627000 115 139 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539639 111539639 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:111539639G>A ENST00000354925.2 - 7 2301 c.596C>T c.(595-597)tCt>tTt p.S199F PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394595.3_Silent_p.L130L|PITX2_ENST00000394598.2_Missense_Mutation_p.S199F|PITX2_ENST00000355080.5_Missense_Mutation_p.S153F|PITX2_ENST00000306732.3_Missense_Mutation_p.S206F NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 199 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GACGTTCATAGAGTTGAAGAA 0.547000 5 32 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104337068 104337068 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:104337068C>G ENST00000358755.4 + 4 1051 c.734C>G c.(733-735)tCt>tGt p.S245C FZD6_ENST00000523739.1_Missense_Mutation_p.S213C|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.S245C NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 245 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) AGCATTGTATCTCTTATGTAC 0.388000 32 54 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13325057 13325057 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:13325057C>G ENST00000360228.5 - 40 5929 c.5930G>C c.(5929-5931)cGc>cCc p.R1977P CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1978P NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1978 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTGCTCCTCGCGCATGGCCTG 0.617000 8 14 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881457 33881457 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:33881457C>T ENST00000504830.1 - 2 591 c.256G>A c.(256-258)Ggc>Agc p.G86S ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G86S|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G86S NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 86 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCCTCTGAGCCATCCAAATCT 0.473000 HNSCC(64;0.19) 28 171 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44176914 44176914 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:44176914C>T ENST00000360029.3 - 2 1598 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 439 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TTTTTCATTTCTTCTTCCACA 0.403000 HNSCC(17;0.042) 27 142 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 12933942 12933942 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:12933942G>A ENST00000379348.2 + 4 505 c.328G>A c.(328-330)Gaa>Aaa p.E110K PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 0 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCTTGGGCTCGAACTGTGTTC 0.532000 12 63 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136315040 136315040 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:136315040C>T ENST00000371929.3 + 23 3442 c.2998C>T c.(2998-3000)Cgc>Tgc p.R1000C ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R969C|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1000C|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1000 TSP type-1 6. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGGGCTGCCTCGCCCGGAACC 0.677000 3 14 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10124102 10124102 + Translation_Start_Site SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:10124102G>A ENST00000591589.1 + 0 178 RDH8_ENST00000171214.1_De_novo_Start_OutOfFrame Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GGAGGGAGCAGATGAGCCCAG 0.622000 7 18 0 0 1 0 0 CRELD1 78987 broad.mit.edu 37 3 9986218 9986218 + Silent SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:9986218A>T ENST00000383811.3 + 10 1817 c.1218A>T c.(1216-1218)tcA>tcT p.S406S CRELD1_ENST00000452070.1_Silent_p.S406S|CRELD1_ENST00000397170.3_Silent_p.S406S|CRELD1_ENST00000326434.5_3'UTR NM_015513.4 NP_056328 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 406 cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 ACTGGTTGTCAGAGCGCAGTG 0.617000 14 26 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186442901 186442901 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:186442901A>G ENST00000265023.4 + 4 628 c.416A>G c.(415-417)cAg>cGg p.Q139R RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q139R|KNG1_ENST00000447445.1_Missense_Mutation_p.Q139R NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 139 Cystatin 2.|O-glycosylated at one site only. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GTGACAGCCCAGTACGACTGC 0.493000 26 17 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121976185 121976185 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:121976185G>A ENST00000373964.2 - 6 1353 c.934C>T c.(934-936)Cac>Tac p.H312Y BRINP1_ENST00000265922.3_Intron bone morphogenetic protein/retinoic acid inducible neural-specific 1 0 GGCACTGAGTGAGACTCTCTA 0.522000 17 100 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 49004677 49004677 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49004677C>T ENST00000356401.4 + 6 846 c.507C>T c.(505-507)tgC>tgT p.C169C ARIH2_ENST00000449376.1_Silent_p.C169C|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 169 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) AGCAGCACTGCTCAGTTCTCG 0.507000 10 83 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187446976 187446976 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:187446976C>T ENST00000406870.2 - 5 1583 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q BCL6_ENST00000232014.4_Missense_Mutation_p.R406Q|BCL6_ENST00000450123.2_Missense_Mutation_p.R406Q|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 406 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CGTGTAGGCTCGTGGGGAAAG 0.612000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 11 122 0 0 1 0 0 MAB21L3 126868 broad.mit.edu 37 1 116666900 116666900 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:116666900G>A ENST00000369500.3 + 4 668 c.403G>A c.(403-405)Gga>Aga p.G135R MAB21L3_ENST00000464946.1_3'UTR NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 135 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 GAACATCGACGGAGACATTGT 0.552000 24 42 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90856613 90856613 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:90856613C>A ENST00000394980.1 + 7 2101 c.1782C>A c.(1780-1782)gaC>gaA p.D594E MMRN1_ENST00000264790.2_Missense_Mutation_p.D594E|MMRN1_ENST00000508372.1_Missense_Mutation_p.D336E|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 594 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AATGTGAAGACATGTTATCCA 0.348000 19 33 7.07596e-05 7.5213e-05 1 1 0 UNC5C 8633 broad.mit.edu 37 4 96140242 96140242 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:96140242G>C ENST00000453304.1 - 9 1871 c.1523C>G c.(1522-1524)tCg>tGg p.S508W UNC5C_ENST00000506749.1_Missense_Mutation_p.S527W NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 508 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CTCCAACAACGACTGGGTCAT 0.527000 33 45 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89805061 89805061 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:89805061C>G ENST00000389301.3 - 43 4346 c.4316G>C c.(4315-4317)aGa>aCa p.R1439T FANCA_ENST00000568369.1_3'UTR|ZNF276_ENST00000289816.5_3'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1439 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGCCTGCTGTCTGCTCTGGAG 0.632000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 23 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31374033 31374033 + Missense_Mutation SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:31374033T>C ENST00000268296.4 + 12 1439 c.1318T>C c.(1318-1320)Tcc>Ccc p.S440P ITGAX_ENST00000562522.1_Missense_Mutation_p.S440P NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 440 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CACCCAGGTGTCCAGGCAATG 0.652000 5 36 0 0 1 0 0 NAPRT1 93100 broad.mit.edu 37 8 144660267 144660267 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:144660267G>A ENST00000449291.2 - 1 516 c.222C>T c.(220-222)gaC>gaT p.D74D NAPRT1_ENST00000276844.7_Silent_p.D74D|NAPRT1_ENST00000435154.3_Silent_p.D74D|NAPRT1_ENST00000426292.3_Silent_p.D74D Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 74 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) GACTACCGGCGTCCCGCAGGC 0.726000 4 7 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134147635 134147635 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:134147635G>T ENST00000389887.5 + 3 2687 c.191G>T c.(190-192)cGa>cTa p.R64L GLB1L3_ENST00000431683.2_Missense_Mutation_p.R64L Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 64 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.R64Q(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CTGAAGAATCGATCTGTGGGA 0.557000 5 16 0.0215528 0.0217676 1 1 0 LCORL 254251 broad.mit.edu 37 4 17974501 17974501 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:17974501C>G ENST00000326877.4 - 2 286 c.162G>C c.(160-162)gaG>gaC p.E54D LCORL_ENST00000382224.1_5'UTR|LCORL_ENST00000382226.5_Missense_Mutation_p.E54D|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000539056.1_5'UTR NM_153686.7 NP_710153.2 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor corepressor-like regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 CTAAAATACTCTCAAAACCTG 0.294000 10 18 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 67000659 67000659 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:67000659G>T ENST00000303334.4 + 8 1024 c.953G>T c.(952-954)gGc>gTc p.G318V CES3_ENST00000394037.1_Missense_Mutation_p.G318V NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 318 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) ACCGTTGATGGCACTGTCTTC 0.537000 23 94 7.88262e-20 9.5092e-20 1 1 0 NLRP7 199713 broad.mit.edu 37 19 55451444 55451444 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:55451444A>G ENST00000446217.1 - 6 1229 c.827T>C c.(826-828)aTc>aCc p.I276T NLRP7_ENST00000340844.2_Missense_Mutation_p.I248T|NLRP7_ENST00000590030.1_Missense_Mutation_p.I248T|NLRP7_ENST00000448121.2_Missense_Mutation_p.I248T|NLRP7_ENST00000328092.5_Missense_Mutation_p.I248T|NLRP7_ENST00000592784.1_Missense_Mutation_p.I248T|NLRP7_ENST00000588756.1_Missense_Mutation_p.I248T Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 248 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CACGAACAGGATTCTCTGTGC 0.577000 94 93 0 0 1 0 0 MED27 9442 broad.mit.edu 37 9 134738491 134738491 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:134738491G>A ENST00000292035.5 - 7 823 c.760C>T c.(760-762)Cag>Tag p.Q254* MED27_ENST00000357028.2_Nonsense_Mutation_p.Q218* NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 254 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) TGGGGCAGCTGATAGTGGAGC 0.537000 16 19 0 0 1 0 0 SLC25A30 253512 broad.mit.edu 37 13 45980021 45980021 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:45980021C>G ENST00000539591.1 - 3 314 c.151G>C c.(151-153)Gaa>Caa p.E51Q Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 102 mitochondrial transport integral to membrane|mitochondrial inner membrane binding p.E102*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) CACTCACCTTCTGGGCGTTCA 0.473000 14 27 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55359071 55359071 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:55359071G>C ENST00000536015.1 - 12 1307 c.1188C>G c.(1186-1188)ctC>ctG p.L396L ATP8B1_ENST00000283684.4_Silent_p.L396L|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 396 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) CCATGGTGTTGAGAACAATGA 0.463000 3 36 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10876185 10876185 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:10876185G>A ENST00000379491.4 - 4 668 c.521C>T c.(520-522)gCc>gTc p.A174V SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 174 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TCTCTTGATGGCGCTTCTTCT 0.463000 26 64 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89925098 89925098 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:89925098G>T ENST00000405460.2 + 9 1677 c.1581G>T c.(1579-1581)aaG>aaT p.K527N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 527 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAAACCAGAAGATTGAAAGCA 0.353000 8 13 0.000442599 0.000462372 1 1 0 PYGM 5837 broad.mit.edu 37 11 64525358 64525358 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:64525358G>A ENST00000164139.3 - 5 951 c.553C>T c.(553-555)Cgc>Tgc p.R185C PYGM_ENST00000377432.3_Missense_Mutation_p.R97C NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 185 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TTGCCGTAGCGAAGCCAGTCA 0.632000 6 22 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41513680 41513680 + Nonsense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:41513680C>G ENST00000263253.7 + 2 1803 c.584C>G c.(583-585)tCa>tGa p.S195* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 195 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ATGAACGGTTCAATTGGAGCA 0.532000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 19 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048545 9048545 + Nonsense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:9048545G>T ENST00000397910.4 - 5 33289 c.33086C>A c.(33085-33087)tCa>tAa p.S11029* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11031 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAACAGTTGAGCTGGCTTC 0.488000 51 41 2.17126e-26 2.67232e-26 1 1 0 APOF 319 broad.mit.edu 37 12 56755363 56755363 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:56755363C>G ENST00000398189.3 - 2 704 c.627G>C c.(625-627)aaG>aaC p.K209N APOF_ENST00000541105.1_Missense_Mutation_p.K191N NM_001638.2 NP_001629.1 Q13790 APOF_HUMAN apolipoprotein F 209 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding breast(1)|lung(3)|prostate(1)|stomach(1) 6 GTTCCCTGGCCTTGCCCAGGC 0.552000 6 29 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046440 42046440 + Silent SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:42046440G>C ENST00000372584.1 - 3 5043 c.4029C>G c.(4027-4029)gtC>gtG p.V1343V HIVEP3_ENST00000247584.5_Silent_p.V1343V|HIVEP3_ENST00000372583.1_Silent_p.V1343V|HIVEP3_ENST00000429157.2_Silent_p.V1343V NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1343 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGACTGGGTGACCAAGATCT 0.552000 41 31 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36962431 36962431 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:36962431G>A ENST00000300105.6 - 3 1386 c.405C>T c.(403-405)atC>atT p.I135I NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 135 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 CGGCACTCAGGATGATGTTGT 0.567000 16 63 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19379720 19379720 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:19379720G>C ENST00000263208.5 - 9 1096 c.840C>G c.(838-840)atC>atG p.I280M HIRA_ENST00000340170.4_Missense_Mutation_p.I280M|HIRA_ENST00000546308.1_Missense_Mutation_p.I236M|HIRA_ENST00000541063.1_Missense_Mutation_p.I236M NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 280 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TCTTTTTGAAGATTTTTGGGT 0.478000 9 47 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66462253 66462253 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:66462253G>A ENST00000404260.3 + 29 7563 c.7255G>A c.(7255-7257)Gag>Aag p.E2419K MAST4_ENST00000403625.2_Missense_Mutation_p.E2416K|MAST4_ENST00000403666.1_Missense_Mutation_p.E2227K|MAST4_ENST00000405643.1_Missense_Mutation_p.E2237K|MAST4_ENST00000261569.7_Missense_Mutation_p.E2222K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2419 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGGCTTCCCTGAGGCCAGAGG 0.652000 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20787878 20787878 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:20787878A>G ENST00000359062.3 + 8 1929 c.1889A>G c.(1888-1890)aAc>aGc p.N630S PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 630 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ACCAATAACAACAGTGACAGC 0.433000 3 50 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185931 127185931 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chrX:127185931C>A ENST00000371124.3 - 1 451 c.255G>T c.(253-255)atG>atT p.M85I NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 85 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 AGAGTTTCTCCATGTCATCCC 0.493000 134 49 1.56038e-73 1.98475e-73 1 1 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394313 39394313 + Missense_Mutation SNP T T G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:39394313T>G ENST00000254072.6 + 1 17 c.10T>G c.(10-12)Tgt>Ggt p.C4G NM_031963.2 NP_114169.2 Q9BYQ0 KRA98_HUMAN keratin associated protein 9-8 4 keratin filament lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CATGACCCACTGTTGTTCCCC 0.577000 18 82 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34107326 34107326 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:34107326G>A ENST00000331923.4 - 18 2878 c.2689C>T c.(2689-2691)Cat>Tat p.H897Y PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 p.H897N(1) GACATAGCATGATCCAAAGCT 0.323000 6 78 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84642108 84642108 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:84642108G>A ENST00000284136.6 - 15 1801 c.1758C>T c.(1756-1758)gaC>gaT p.D586D SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 586 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGTCTTCGATGTCCCAGCACT 0.393000 25 42 0 0 1 0 0 DUSP14 11072 broad.mit.edu 37 17 35872588 35872588 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:35872588G>C ENST00000487847.1 + 2 1192 c.214G>C c.(214-216)Gag>Cag p.E72Q DUSP14_ENST00000394386.1_Missense_Mutation_p.E72Q|DUSP14_ENST00000394389.4_Missense_Mutation_p.E72Q O95147 DUS14_HUMAN dual specificity phosphatase 14 72 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 9 Breast(25;0.00637)|Ovarian(249;0.15) GCCCCAATTTGAGTATGTTAA 0.532000 21 62 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42507538 42507538 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:42507538G>A ENST00000262895.3 - 18 2459 c.2460C>T c.(2458-2460)ttC>ttT p.F820F GRIK5_ENST00000593562.1_Silent_p.F820F|GRIK5_ENST00000301218.4_Silent_p.F820F NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 820 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) TGACCGCCACGAAGACAGCAA 0.592000 16 61 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62398082 62398082 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:62398082C>T ENST00000346178.4 - 12 1458 c.1443G>A c.(1441-1443)aaG>aaA p.K481K GANAB_ENST00000540933.1_Silent_p.K362K|GANAB_ENST00000534779.1_Silent_p.K367K|GANAB_ENST00000356638.3_Silent_p.K459K NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 459 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 CCTTCCGCCTCTTAGAAGCCA 0.552000 4 75 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31332824 31332824 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:31332824C>G ENST00000544665.3 + 16 1952 c.1881C>G c.(1879-1881)ttC>ttG p.F627L ITGAM_ENST00000287497.8_Missense_Mutation_p.F626L NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 626 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TCATGGAGTTCAATCCCAGGG 0.493000 119 137 0 0 1 0 0 PTTG1 9232 broad.mit.edu 37 5 159851272 159851272 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:159851272G>A ENST00000393964.1 + 3 708 c.305G>A c.(304-306)aGc>aAc p.S102N PTTG1_ENST00000520452.1_Missense_Mutation_p.S102N|PTTG1_ENST00000352433.5_Missense_Mutation_p.S102N|PTTG1_ENST00000519287.1_3'UTR NM_001282382.1 NP_001269311.1 O95997 PTTG1_HUMAN pituitary tumor-transforming 1 102 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter cytosol|nucleus cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding breast(1)|large_intestine(1)|lung(4) 6 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104) AAAGCAAAAAGCTCTGTTCCT 0.368000 29 54 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207399 58207399 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:58207399G>A ENST00000377918.3 + 1 745 c.719G>A c.(718-720)aGc>aAc p.S240N NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 240 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AACGACAACAGCCCGGTCTTC 0.597000 19 33 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390599 197390599 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:197390599G>T ENST00000367400.3 + 6 1776 c.1641G>T c.(1639-1641)caG>caT p.Q547H CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.Q478H|CRB1_ENST00000543483.1_Missense_Mutation_p.Q246H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q435H|CRB1_ENST00000544212.1_Missense_Mutation_p.Q28H|CRB1_ENST00000538660.1_Missense_Mutation_p.Q547H NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 547 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TATCAATTCAGGTCAATAATC 0.453000 47 76 1.51926e-22 1.84741e-22 1 1 0 FBN1 2200 broad.mit.edu 37 15 48729537 48729537 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:48729537G>T ENST00000316623.5 - 52 6816 c.6361C>A c.(6361-6363)Cct>Act p.P2121T NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 2121 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GAATCATCAGGTCCCACGATG 0.423000 20 27 3.6726e-16 4.34425e-16 1 1 0 RIOK1 83732 broad.mit.edu 37 6 7404771 7404771 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:7404771C>T ENST00000379834.2 + 10 1482 c.975C>T c.(973-975)ctC>ctT p.L325L NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 325 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ATGCAGATCTCAGTGAATTTA 0.408000 34 174 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170078715 170078715 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:170078715C>T ENST00000458537.3 + 1 1305 c.596C>T c.(595-597)tCa>tTa p.S199L SKIL_ENST00000426052.2_Missense_Mutation_p.S179L|SKIL_ENST00000413427.2_Missense_Mutation_p.S199L|SKIL_ENST00000259119.4_Missense_Mutation_p.S199L NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 199 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGGTGTACTTCAGACCAGCTT 0.388000 4 152 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12817103 12817103 + Missense_Mutation SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:12817103A>T ENST00000425528.1 - 15 1932 c.1575T>A c.(1573-1575)ttT>ttA p.F525L TNPO2_ENST00000592287.1_Missense_Mutation_p.F525L|TNPO2_ENST00000588216.1_Missense_Mutation_p.F525L|TNPO2_ENST00000450764.2_Missense_Mutation_p.F525L|TNPO2_ENST00000356861.5_Missense_Mutation_p.F525L|TNPO2_ENST00000441499.1_Missense_Mutation_p.F525L O14787 TNPO2_HUMAN transportin 2 525 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCCCAAAGGCAAAGACAAGGG 0.587000 10 30 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57919496 57919496 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr12:57919496C>A ENST00000355673.3 + 6 1101 c.745C>A c.(745-747)Cat>Aat p.H249N MBD6_ENST00000431731.2_Missense_Mutation_p.H249N NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 249 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TCCGGCCCCTCATGCCTCCTC 0.622000 20 154 7.87624e-14 9.2447e-14 1 1 0 SEC14L1 6397 broad.mit.edu 37 17 75187337 75187337 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:75187337G>T ENST00000413679.2 + 5 591 c.288G>T c.(286-288)gaG>gaT p.E96D SEC14L1_ENST00000443798.4_Missense_Mutation_p.E96D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E96D|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E96D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E96D|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E62D|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E96D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E62D NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470|NP_001137471|NP_002994 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 96 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TGCACATTGAGGCTTATAATG 0.388000 79 131 2.08937e-45 2.64104e-45 1 1 0 EP300 2033 broad.mit.edu 37 22 41556674 41556674 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:41556674G>C ENST00000263253.7 + 20 4838 c.3619G>C c.(3619-3621)Gag>Cag p.E1207Q NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1207 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GTGTTTCAATGAGATCCAAGG 0.468000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 6 39 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760235 167760235 + Silent SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:167760235G>T ENST00000409195.1 + 2 332 c.243G>T c.(241-243)gtG>gtT p.V81V XIRP2_ENST00000420519.1_Silent_p.V81V|XIRP2_ENST00000409756.2_Silent_p.V81V|XIRP2_ENST00000295237.9_Silent_p.V81V|XIRP2_ENST00000409043.1_Silent_p.V81V|XIRP2_ENST00000409728.1_Silent_p.V81V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGATTCTGTGGACAAGAGTA 0.517000 15 21 2.61681e-11 2.99628e-11 1 1 0 PARP4 143 broad.mit.edu 37 13 25030583 25030583 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:25030583C>T ENST00000381989.3 - 21 2563 c.2458G>A c.(2458-2460)Gaa>Aaa p.E820K PARP4_ENST00000480576.1_5'UTR NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 820 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GAGCTGCCTTCCATGGTGCTA 0.458000 5 63 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114514601 114514601 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:114514601C>A ENST00000369559.4 + 15 3330 c.3169C>A c.(3169-3171)Ctg>Atg p.L1057M HIPK1_ENST00000340480.4_Intron|HIPK1_ENST00000369558.1_Intron|HIPK1_ENST00000406344.1_Intron|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000426820.2_Intron|HIPK1_ENST00000369553.1_Intron NM_152696.3 NP_689909.2 Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 0 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTACTGCCTTCTGTTTGGGCC 0.507000 7 71 1.26484e-09 1.43208e-09 1 1 0 STXBP4 252983 broad.mit.edu 37 17 53084946 53084946 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:53084946G>A ENST00000376352.2 + 8 861 c.654G>A c.(652-654)gaG>gaA p.E218E STXBP4_ENST00000398391.2_Silent_p.E143E|STXBP4_ENST00000299341.4_Silent_p.E143E|STXBP4_ENST00000434978.2_Silent_p.E218E|STXBP4_ENST00000405898.1_Silent_p.E218E NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 218 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TTAAGGCAGAGAAACTGGAAA 0.383000 72 221 0 0 1 0 0 AURKA 6790 broad.mit.edu 37 20 54948568 54948568 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:54948568C>G ENST00000395909.4 - 9 1315 c.750G>C c.(748-750)aaG>aaC p.K250N AURKA_ENST00000312783.6_Missense_Mutation_p.K250N|AURKA_ENST00000395914.1_Missense_Mutation_p.K250N|AURKA_ENST00000395915.3_Missense_Mutation_p.K250N|AURKA_ENST00000347343.2_Missense_Mutation_p.K250N|AURKA_ENST00000395907.1_Missense_Mutation_p.K250N|AURKA_ENST00000395913.3_Missense_Mutation_p.K250N|AURKA_ENST00000395911.1_Missense_Mutation_p.K250N|AURKA_ENST00000371356.2_Missense_Mutation_p.K250N NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 250 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) GAATAACTCTCTTCGAATGAC 0.343000 9 139 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235972605 235972605 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:235972605C>G ENST00000389794.3 - 5 1687 c.1513G>C c.(1513-1515)Gaa>Caa p.E505Q LYST_ENST00000389793.2_Missense_Mutation_p.E505Q|LYST_ENST00000536965.1_Missense_Mutation_p.E505Q Q99698 LYST_HUMAN lysosomal trafficking regulator 505 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGAGAATATTCACATCGTCTG 0.373000 10 92 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156280933 156280933 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:156280933C>T ENST00000295688.3 - 12 1489 c.1209G>A c.(1207-1209)ctG>ctA p.L403L CCT3_ENST00000472765.2_Silent_p.L358L|CCT3_ENST00000368259.2_Silent_p.L365L|CCT3_ENST00000368261.3_Silent_p.L358L NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 403 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GCTGAGGGTCCAGGAGAACAT 0.537000 26 40 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33985412 33985412 + Splice_Site SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:33985412C>T ENST00000373381.4 - 69 10912 c.10736G>A c.(10735-10737)aGg>aAg p.R3579K NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3435 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCACGGTACCTGTGCTTGTA 0.622000 18 21 0 0 1 0 0 NCLN 56926 broad.mit.edu 37 19 3198862 3198862 + Silent SNP C C T rs150799648 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:3198862C>T ENST00000246117.4 + 5 1094 c.663C>T c.(661-663)atC>atT p.I221I NCLN_ENST00000590671.1_Silent_p.I147I NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 221 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) CCATCGTCATCGTGGCCCACT 0.657000 18 76 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12261010 12261010 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:12261010G>A ENST00000256194.4 + 17 2380 c.2092G>A c.(2092-2094)Ggc>Agc p.G698S MICAL2_ENST00000527546.1_Missense_Mutation_p.G698S|MICAL2_ENST00000342902.5_Missense_Mutation_p.G698S|MICAL2_ENST00000379612.3_Missense_Mutation_p.G698S|MICAL2_ENST00000537344.1_Missense_Mutation_p.G698S NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 698 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CCGTAGCTTGGGCTCCAATCA 0.502000 33 17 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202288124 202288124 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:202288124C>T ENST00000367278.3 + 18 2782 c.2693C>T c.(2692-2694)tCa>tTa p.S898L LGR6_ENST00000439764.2_Missense_Mutation_p.S759L|LGR6_ENST00000255432.7_Missense_Mutation_p.S846L NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 898 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GGCTTCCCCTCAGTGACCCTC 0.617000 13 65 0 0 1 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482377 54482377 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:54482377G>A ENST00000317802.7 - 1 1032 c.912C>T c.(910-912)ttC>ttT p.F304F ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 304 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 GCTTGTTTCTGAAGTAAGGGT 0.468000 20 140 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74899191 74899191 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:74899191C>G ENST00000289575.5 + 8 1378 c.983C>G c.(982-984)tCt>tGt p.S328C SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S184C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S101C|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S306C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S212C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S101C|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S73C|SLCO2B1_ENST00000526660.1_3'UTR NM_007256.4 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 328 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GGCAAGGACTCTCCCTCTAAG 0.552000 7 17 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55594883 55594883 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:55594883C>T ENST00000378397.1 + 1 189 c.189C>T c.(187-189)ctC>ctT p.L63L NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) ACTTTTTCCTCAGCCACTTGT 0.463000 HNSCC(27;0.073) 34 167 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188692 140188692 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140188692G>A ENST00000530339.1 + 1 1920 c.1920G>A c.(1918-1920)acG>acA p.T640T PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T640T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.T640T NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACGAAACGGACGCTCCGC 0.672000 12 66 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61122213 61122213 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:61122213G>C ENST00000277705.6 - 1 109 c.8C>G c.(7-9)tCt>tGt p.S3C FAM13C_ENST00000422313.2_Missense_Mutation_p.S3C|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000435852.2_Missense_Mutation_p.S3C|FAM13C_ENST00000419214.2_Missense_Mutation_p.S3C|FAM13C_ENST00000373868.2_Missense_Mutation_p.S3C|FAM13C_ENST00000442566.3_Missense_Mutation_p.S3C|FAM13C_ENST00000468840.2_Intron Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 3 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACAGAAACAAGAAAACATCAG 0.483000 8 7 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54914867 54914867 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:54914867G>C ENST00000474759.1 + 21 1937 c.1889G>C c.(1888-1890)cGa>cCa p.R630P CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R630P|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R536P|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R630P NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 630 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TATTTCTTCCGAGGGAATGTA 0.473000 27 157 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890151 139890151 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:139890151C>T ENST00000303045.6 - 3 946 c.500G>A c.(499-501)cGc>cAc p.R167H COL22A1_ENST00000435777.1_Missense_Mutation_p.R167H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 167 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GATGCCAGCGCGGTGGGCTGC 0.716000 HNSCC(7;0.00092) 3 13 0 0 1 0 0 POR 5447 broad.mit.edu 37 7 75613096 75613096 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:75613096G>C ENST00000394893.1 + 10 1008 c.988G>C c.(988-990)Gac>Cac p.D330H POR_ENST00000545601.1_Missense_Mutation_p.D138H|POR_ENST00000439269.1_Missense_Mutation_p.D68H|POR_ENST00000461988.1_Missense_Mutation_p.D330H|POR_ENST00000450476.1_Missense_Mutation_p.D229H|POR_ENST00000419840.1_Missense_Mutation_p.D144H P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 327 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) CCCAGCCAACGACTCTGCTCT 0.632000 8 14 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777178 6777178 + RNA SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:6777178C>T ENST00000486256.1 + 0 1305 NR_002217.1 CAGGAGAAAGCGCCTGAAACT 0.532000 4 164 0 0 1 0 0 HOXD13 3239 broad.mit.edu 37 2 176958227 176958227 + Silent SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:176958227G>T ENST00000392539.3 + 1 609 c.609G>T c.(607-609)gtG>gtT p.V203V NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 203 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) ACCAGCACGTGCCCGGCTATA 0.632000 T NUP98 AML* 37 43 4.65686e-17 5.55171e-17 1 1 0 DNMT1 1786 broad.mit.edu 37 19 10254594 10254594 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:10254594G>C ENST00000340748.4 - 28 3151 c.2916C>G c.(2914-2916)caC>caG p.H972Q DNMT1_ENST00000359526.4_Missense_Mutation_p.H988Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.H972Q P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 972 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ATTTCCGGTAGTGCTCTGGGT 0.547000 98 104 0 0 1 0 0 DSCR3 10311 broad.mit.edu 37 21 38600631 38600631 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:38600631G>A ENST00000309117.6 - 6 788 c.551C>T c.(550-552)tCa>tTa p.S184L DSCR3_ENST00000399001.1_Missense_Mutation_p.S59L|DSCR3_ENST00000398998.1_Missense_Mutation_p.S136L|DSCR3_ENST00000539844.1_Missense_Mutation_p.S107L|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000288304.5_Silent_p.L141L|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000476950.1_Missense_Mutation_p.S157L NM_006052.1 NP_006043.1 O14972 DSCR3_HUMAN Down syndrome critical region gene 3 184 vacuolar transport nucleus|retromer complex endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 ACAGTTTGTTGAGTTGAGATG 0.517000 6 84 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60927405 60927405 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:60927405C>T ENST00000252999.3 - 4 646 c.580G>A c.(580-582)Gac>Aac p.D194N LAMA5_ENST00000370677.3_Missense_Mutation_p.D194N|LAMA5_ENST00000370692.3_Missense_Mutation_p.D194N NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 194 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCAGACAGTCCCTCTTGGAG 0.687000 15 36 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10129508 10129508 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:10129508G>C ENST00000591589.1 + 3 613 c.424G>C c.(424-426)Gtc>Ctc p.V142L RDH8_ENST00000171214.1_Missense_Mutation_p.V122L Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 122 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) TGTCCGTCTCGTCAAAGCTGT 0.597000 34 29 0 0 1 0 0 TBATA 219793 broad.mit.edu 37 10 72536995 72536995 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr10:72536995G>T ENST00000299290.1 - 7 993 c.604C>A c.(604-606)Cgc>Agc p.R202S TBATA_ENST00000456372.2_Missense_Mutation_p.R202S NM_152710.2 NP_689923 thymus, brain and testes associated TGAGATCTGCGGCGGCCGACA 0.627000 37 6 4.00102e-26 4.91438e-26 1 1 0 NCOA5 57727 broad.mit.edu 37 20 44698962 44698962 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:44698962C>G ENST00000290231.6 - 3 416 c.252G>C c.(250-252)gtG>gtC p.V84V NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 84 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TAAGATCCCTCACGTCCCGAA 0.532000 21 156 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38867556 38867556 + Nonsense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:38867556C>A ENST00000359357.3 + 60 8671 c.8417C>A c.(8416-8418)tCa>tAa p.S2806* DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S3023*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S2770* dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAACAGATTTCACGAATAATT 0.363000 18 141 7.45023e-12 8.56283e-12 1 1 0 MIOS 54468 broad.mit.edu 37 7 7612889 7612889 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:7612889G>C ENST00000340080.4 + 4 1204 c.783G>C c.(781-783)ttG>ttC p.L261F MIOS_ENST00000405785.1_Missense_Mutation_p.L261F NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 261 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGCCAGTTTTGACATTGACTG 0.413000 65 88 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075327 76075327 + RNA SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:76075327G>T ENST00000395215.3 + 0 967 AAAAGTAGAGGCTCCAGGAGC 0.562000 8 50 3.09899e-07 3.39492e-07 1 1 0 EHMT2 10919 broad.mit.edu 37 6 31860481 31860481 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr6:31860481C>A ENST00000395728.3 - 5 868 c.869G>T c.(868-870)gGa>gTa p.G290V EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.G233V|EHMT2_ENST00000375537.4_Missense_Mutation_p.G233V|EHMT2_ENST00000375528.4_Missense_Mutation_p.G290V Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 233 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CAGGCCACCTCCTGAGTTCAG 0.577000 8 44 2.74318e-10 3.12332e-10 1 1 0 QRICH1 54870 broad.mit.edu 37 3 49095286 49095286 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:49095286G>A ENST00000395443.2 - 3 819 c.347C>T c.(346-348)tCg>tTg p.S116L QRICH1_ENST00000424300.1_Missense_Mutation_p.S116L|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.S116L NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 116 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGCTGAGCCGAGACCTGTTG 0.572000 5 54 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110922154 110922154 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:110922154C>A ENST00000316534.4 - 8 955 c.882G>T c.(880-882)agG>agT p.R294S NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000393272.3_Missense_Mutation_p.R294S O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 294 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 CATTCCATGCCCTGAACCCTG 0.383000 59 160 1.08141e-31 1.35009e-31 1 1 0 MCM8 84515 broad.mit.edu 37 20 5932671 5932671 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:5932671G>C ENST00000378896.3 + 2 387 c.10G>C c.(10-12)Gag>Cag p.E4Q MCM8_ENST00000378883.1_Missense_Mutation_p.E4Q|MCM8_ENST00000378886.2_Missense_Mutation_p.E4Q|MCM8_ENST00000265187.4_Missense_Mutation_p.E4Q NM_001281520.1|NM_032485.4|NM_182802.1 NP_001268449.1|NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 4 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 GATGAATGGAGAGTATAGAGG 0.368000 17 72 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3820720 3820720 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:3820720G>A ENST00000262367.5 - 14 3540 c.2731C>T c.(2731-2733)Caa>Taa p.Q911* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q873* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 911 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTCTGGGTTTGGGTAGCACTG 0.657000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 34 37 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64435001 64435001 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:64435001G>T ENST00000265459.6 - 9 1980 c.1519C>A c.(1519-1521)Ccc>Acc p.P507T NRXN2_ENST00000409571.1_Missense_Mutation_p.P500T|NRXN2_ENST00000377559.3_Missense_Mutation_p.P476T|NRXN2_ENST00000377551.1_Missense_Mutation_p.P507T NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 507 Laminin G-like 3. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CTCCAGCGGGGCAGCGCCACA 0.657000 20 25 0.00188189 0.00194922 1 1 0 PAX1 5075 broad.mit.edu 37 20 21687429 21687429 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:21687429G>C ENST00000398485.2 + 2 694 c.640G>C c.(640-642)Gtg>Ctg p.V214L PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.V190L NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 214 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 TGTGCCTTCGGTGAGCTCCAT 0.642000 30 82 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164777732 164777732 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:164777732C>G ENST00000264382.3 - 10 1166 c.1104G>C c.(1102-1104)gtG>gtC p.V368V NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 368 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCACTTCTTTCACTACATCTA 0.378000 HNSCC(35;0.089) 55 342 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196971611 196971611 + Splice_Site SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:196971611G>T ENST00000367414.5 + 8 1275 c.e8-1 CFHR5_ENST00000256785.4_Splice_Site NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ATATTTTGTAGAAAAAAGGGA 0.348000 4 57 0.00024832 0.000261209 1 1 0 UROC1 131669 broad.mit.edu 37 3 126220663 126220663 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:126220663C>T ENST00000383579.3 - 10 1064 c.1031G>A c.(1030-1032)gGc>gAc p.G344D UROC1_ENST00000290868.2_Intron NM_001165974.1 NP_001159446.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 0 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CCTGGAGAAGCCCGAGGGAGC 0.592000 33 25 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48312041 48312041 + Silent SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:48312041A>G ENST00000435803.1 + 17 2802 c.2778A>G c.(2776-2778)gcA>gcG p.A926A NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 926 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCAGGAATGCATCTGATCTTT 0.388000 4 76 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73235062 73235062 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:73235062C>T ENST00000377110.3 - 15 2266 c.2023G>A c.(2023-2025)Gcc>Acc p.A675T TRPM3_ENST00000396285.1_Missense_Mutation_p.A522T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A534T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A534T|TRPM3_ENST00000358082.3_Missense_Mutation_p.A537T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A537T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A524T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A547T|TRPM3_ENST00000423814.3_Missense_Mutation_p.A702T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A679T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A547T|TRPM3_ENST00000377111.2_Missense_Mutation_p.A675T Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGAGCCATGGCTTTGCAGAGC 0.582000 12 32 0 0 1 0 0 KCNN1 3780 broad.mit.edu 37 19 18092653 18092653 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:18092653C>T ENST00000222249.9 + 5 953 c.634C>T c.(634-636)Cgg>Tgg p.R212W NM_002248.3 NP_002239.2 Q92952 KCNN1_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 GTGGACGGCGCGGCTGGCCTT 0.677000 18 18 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96140354 96140354 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:96140354G>A ENST00000453304.1 - 9 1759 c.1411C>T c.(1411-1413)Ctg>Ttg p.L471L UNC5C_ENST00000506749.1_Silent_p.L490L NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 471 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AGTGGATCCAGAATTGGAGAG 0.522000 79 164 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38942465 38942465 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:38942465C>T ENST00000357387.3 - 38 5098 c.5068G>A c.(5068-5070)Gag>Aag p.E1690K RICTOR_ENST00000296782.5_Missense_Mutation_p.E1714K NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1690 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AACACAGCCTCTGCTTCTTCA 0.289000 7 116 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101474435 101474435 + Missense_Mutation SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:101474435A>T ENST00000341893.3 + 7 1642 c.890A>T c.(889-891)cAg>cTg p.Q297L CEP97_ENST00000327230.4_Missense_Mutation_p.Q297L|CEP97_ENST00000494050.1_Missense_Mutation_p.Q297L Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 297 centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TTGAGCAAACAGAGGTAAGCC 0.438000 31 53 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14863068 14863068 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:14863068G>C ENST00000285046.5 + 1 2600 c.2490G>C c.(2488-2490)gaG>gaC p.E830D FGD5_ENST00000543601.1_Missense_Mutation_p.E589D NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 830 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 ACGCCTTTGAGAGCAAACAGC 0.522000 3 24 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43212369 43212369 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:43212369G>A ENST00000255226.6 + 5 1392 c.576G>A c.(574-576)ctG>ctA p.L192L SLC14A2_ENST00000586448.1_Silent_p.L192L NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 192 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGGACTGCTGATGGCCGTGT 0.512000 8 114 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947435 237947435 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:237947435C>A ENST00000366574.2 + 90 12740 c.12423C>A c.(12421-12423)agC>agA p.S4141R RYR2_ENST00000542537.1_Missense_Mutation_p.S4125R|RYR2_ENST00000360064.6_Missense_Mutation_p.S4147R|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4141 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.S4139S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCATGGGAAGCGCCAAACGCA 0.498000 17 62 2.48551e-13 2.90613e-13 1 1 0 MED28 80306 broad.mit.edu 37 4 17621584 17621584 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:17621584C>G ENST00000237380.7 + 2 244 c.220C>G c.(220-222)Cga>Gga p.R74G NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding lung(6)|skin(2) 8 GGAAGAAATTCGAACCGGTAA 0.388000 4 54 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2843424 2843424 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:2843424C>G ENST00000380443.3 + 1 322 c.233C>G c.(232-234)tCt>tGt p.S78C VPS16_ENST00000481812.2_Intron|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380445.3_Intron Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 401 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CAGGGAAGCTCTCTCCTATCG 0.632000 32 112 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97852309 97852309 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:97852309C>G ENST00000354565.2 + 1 768 c.768C>G c.(766-768)ctC>ctG p.L256L RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GACCCCTTCTCTTCATTTATG 0.418000 63 76 0 0 1 0 0 CHTOP 26097 broad.mit.edu 37 1 153610861 153610861 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:153610861C>T ENST00000368686.1 + 1 44 c.36C>T c.(34-36)aaC>aaT p.N12N CHTOP_ENST00000368687.1_Silent_p.N27N|CHTOP_ENST00000368694.3_Silent_p.N52N|CHTOP_ENST00000403433.1_Silent_p.N52N|CHTOP_ENST00000368690.3_Silent_p.N52N|CHTOP_ENST00000495554.1_3'UTR Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 GTGCCAGAAACAGAAGACTGG 0.493000 12 107 0 0 1 0 0 RHBDL3 162494 broad.mit.edu 37 17 30632431 30632431 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:30632431G>A ENST00000269051.4 + 7 867 c.853G>A c.(853-855)Gtc>Atc p.V285I RHBDL3_ENST00000536287.1_Missense_Mutation_p.V187I|RHBDL3_ENST00000538145.1_Missense_Mutation_p.V277I NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 285 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) GTATGCTCTCGTCTCTGCCCA 0.542000 10 94 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114925 71114925 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:71114925C>A ENST00000304954.3 + 4 384 c.298C>A c.(298-300)Cca>Aca p.P100T NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 100 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 GCAATACCTGCCAAATAGCCA 0.458000 9 23 0.000978159 0.00101836 1 1 0 ABHD13 84945 broad.mit.edu 37 13 108881678 108881678 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr13:108881678C>T ENST00000375898.3 + 2 413 c.112C>T c.(112-114)Cat>Tat p.H38Y NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 38 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGTGACTTTTCATCTGTATGG 0.373000 6 43 0 0 1 0 0 C8orf82 414919 broad.mit.edu 37 8 145753371 145753371 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:145753371G>A ENST00000313465.5 - 2 417 c.242C>T c.(241-243)tCc>tTc p.S81F C8orf82_ENST00000524821.1_Intron NM_001001795.1 NP_001001795.1 Q6P1X6 CH082_HUMAN chromosome 8 open reading frame 82 0 endometrium(1)|urinary_tract(1) 2 GCCCGGAAGGGAGAAAGAAGG 0.602000 52 25 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499330 75499330 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:75499330G>C ENST00000360639.2 + 2 1261 c.941G>C c.(940-942)gGg>gCg p.G314A C15orf39_ENST00000394987.4_Missense_Mutation_p.G314A|C15orf39_ENST00000567617.1_Missense_Mutation_p.G314A Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 314 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 AAGGGGACCGGGTACCAGGCT 0.687000 14 21 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53281416 53281416 + Splice_Site SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:53281416G>C ENST00000566029.1 + 16 3874 c.e16+1 CHD9_ENST00000398510.3_Splice_Site|CHD9_ENST00000447540.1_Splice_Site|CHD9_ENST00000564845.1_Splice_Site Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TACATAAAAGGTAAAGCATAC 0.353000 3 6 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344977 56344977 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:56344977G>A ENST00000526812.2 - 1 286 c.221C>T c.(220-222)tCt>tTt p.S74F NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 AACATTGGAAGAATAGCAAAT 0.458000 20 53 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130854306 130854306 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:130854306G>A ENST00000373066.5 + 1 564 c.157G>A c.(157-159)Gag>Aag p.E53K RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.E53K|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 99 EF-hand 1. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 CGGAAGGGCTGAGGCCACGGA 0.572000 14 66 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166927011 166927011 + Missense_Mutation SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:166927011A>T ENST00000271417.3 - 2 429 c.374T>A c.(373-375)gTt>gAt p.V125D ILDR2_ENST00000529071.1_Missense_Mutation_p.V125D|ILDR2_ENST00000469934.2_Missense_Mutation_p.V125D|ILDR2_ENST00000526687.1_Missense_Mutation_p.V125D|ILDR2_ENST00000525740.1_Missense_Mutation_p.V125D|ILDR2_ENST00000528703.1_Missense_Mutation_p.V125D|ILDR2_ENST00000529387.1_Missense_Mutation_p.V125D NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 125 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ATTACCATGAACAATCGTGAT 0.453000 39 43 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590300 140590300 + Silent SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:140590300C>G ENST00000239450.2 + 1 2010 c.1821C>G c.(1819-1821)ctC>ctG p.L607L PCDHB12_ENST00000541609.1_Silent_p.L270L NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 607 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCAGCTGCTCAAGGCCACGG 0.711000 11 96 0 0 1 0 0 GNAT3 346562 broad.mit.edu 37 7 80091571 80091571 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:80091571A>G ENST00000398291.3 - 7 871 c.778T>C c.(778-780)Tca>Cca p.S260P CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 260 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 GAGGTTGTTGAAAAATACTTG 0.358000 9 10 0 0 1 0 0 PDCL2 132954 broad.mit.edu 37 4 56448309 56448309 + Silent SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:56448309A>T ENST00000295645.4 - 2 204 c.102T>A c.(100-102)gtT>gtA p.V34V NM_152401.2 NP_689614.2 Q8N4E4 PDCL2_HUMAN phosducin-like 2 34 endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) GTAAACGTAAAACCATTTCTT 0.358000 17 24 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4882220 4882220 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:4882220C>T ENST00000321919.9 - 5 373 c.297G>A c.(295-297)acG>acA p.T99T GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Silent_p.T99T|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Silent_p.T99T NM_032569.3 NP_115958 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 99 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 TGTGGGATGACGTCTGAAAGT 0.463000 9 81 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348998 30348998 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:30348998C>G ENST00000327564.7 + 1 975 c.914C>G c.(913-915)tCt>tGt p.S305C LRRC37B_ENST00000341671.7_Missense_Mutation_p.S278C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.S196C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S278C|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S290C Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 278 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATCCAGTCCTCTTCACTCCAG 0.552000 6 144 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42551076 42551076 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:42551076C>A ENST00000381668.5 - 19 1837 c.1606G>T c.(1606-1608)Ggg>Tgg p.G536W ATP8A1_ENST00000264449.10_Missense_Mutation_p.G521W NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 536 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TCTTCCTGCCCCAGCTAAGAA 0.313000 11 41 2.80697e-09 3.16631e-09 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92732033 92732033 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:92732033G>A ENST00000379958.2 - 3 3647 c.3378C>T c.(3376-3378)gtC>gtT p.V1126V NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1126 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TACTTTTGTAGACTTGACCCA 0.368000 13 116 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29038998 29038998 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:29038998C>T ENST00000257189.4 + 5 458 c.375C>T c.(373-375)atC>atT p.I125I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 125 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTTCCTAGATCACATGTCGGG 0.363000 7 54 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79225068 79225068 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:79225068G>A ENST00000288439.5 - 14 2635 c.2290C>T c.(2290-2292)Cgg>Tgg p.R764W SLC38A10_ENST00000374759.3_Intron NM_138570.2 NP_612637.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 0 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TGACGATGCCGCAGGTGTTTA 0.502000 22 32 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843135 137843135 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:137843135T>A ENST00000236709.3 - 3 1195 c.994A>T c.(994-996)Act>Tct p.T332S NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 332 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 AGCTCCCCAGTCACTGACCCC 0.498000 24 63 0 0 1 0 0 NXPE3 91775 broad.mit.edu 37 3 101520547 101520547 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:101520547G>T ENST00000422132.1 + 2 759 c.562G>T c.(562-564)Gtc>Ttc p.V188F NXPE3_ENST00000491511.2_Missense_Mutation_p.V188F|NXPE3_ENST00000273347.5_Missense_Mutation_p.V188F|NXPE3_ENST00000477909.1_Missense_Mutation_p.V188F neurexophilin and PC-esterase domain family, member 3 CGTATCTCTGGTCCACCCCAG 0.473000 22 40 1.28384e-07 1.41153e-07 1 1 0 LRBA 987 broad.mit.edu 37 4 151770593 151770593 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:151770593G>A ENST00000535741.1 - 25 4612 c.4139C>T c.(4138-4140)tCa>tTa p.S1380L LRBA_ENST00000510413.1_Missense_Mutation_p.S1380L|LRBA_ENST00000507224.1_Missense_Mutation_p.S1380L|LRBA_ENST00000357115.3_Missense_Mutation_p.S1380L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1380 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TGTAGCAGCTGAAAGCAATGG 0.378000 15 95 0 0 1 0 0 ELAVL1 1994 broad.mit.edu 37 19 8038682 8038682 + Silent SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:8038682C>T ENST00000407627.2 - 4 486 c.357G>A c.(355-357)caG>caA p.Q119Q ELAVL1_ENST00000593807.1_Silent_p.Q119Q|ELAVL1_ENST00000596459.1_Silent_p.Q119Q|ELAVL1_ENST00000351593.5_Silent_p.Q146Q NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 119 RRM 2. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTACGTCCTTCTGGGTCATGG 0.582000 9 33 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119243762 119243762 + Silent SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:119243762T>C ENST00000260187.2 - 2 723 c.429A>G c.(427-429)caA>caG p.Q143Q USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 143 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) CCAGGTCTGATTGGCTGTCCA 0.617000 27 60 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186442900 186442900 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:186442900C>A ENST00000265023.4 + 4 627 c.415C>A c.(415-417)Cag>Aag p.Q139K RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q139K|KNG1_ENST00000447445.1_Missense_Mutation_p.Q139K NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 139 Cystatin 2.|O-glycosylated at one site only. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GGTGACAGCCCAGTACGACTG 0.493000 27 17 4.7796e-09 5.36162e-09 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85445776 85445776 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:85445776G>A ENST00000316356.4 - 7 1160 c.596C>T c.(595-597)tCa>tTa p.S199L SYTL2_ENST00000527523.1_Missense_Mutation_p.S150L|SYTL2_ENST00000524452.1_Missense_Mutation_p.S198L|SYTL2_ENST00000528231.1_Missense_Mutation_p.S198L|SYTL2_ENST00000389960.4_Missense_Mutation_p.S198L Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 198 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTTTGACTCTGACAATTCATC 0.328000 29 27 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134873066 134873066 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:134873066C>A ENST00000398015.3 + 6 1740 c.1370C>A c.(1369-1371)cCg>cAg p.P457Q EPHB1_ENST00000493838.1_Missense_Mutation_p.P18Q NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 457 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGGCCACAGCCGGAGCAGCCC 0.562000 38 104 1.07637e-12 1.24416e-12 1 1 0 LILRB4 11006 broad.mit.edu 37 19 55176608 55176608 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:55176608C>A ENST00000391736.1 + 8 1049 c.734C>A c.(733-735)cCt>cAt p.P245H LILRB4_ENST00000391733.3_Missense_Mutation_p.P245H|LILRB4_ENST00000391734.3_Missense_Mutation_p.P245H|LILRB4_ENST00000270452.2_Missense_Mutation_p.P245H|LILRB4_ENST00000430952.2_Missense_Mutation_p.P245H 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 4 245 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) CCCCTCATGCCTACAGGGTCA 0.642000 10 6 1.08611e-07 1.19629e-07 1 1 0 CASC4 113201 broad.mit.edu 37 15 44705539 44705539 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:44705539G>A ENST00000299957.6 + 10 1545 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.E360K NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 191 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) TACAGATGATGAAGAACGAGA 0.323000 5 63 0 0 1 0 0 ELL3 80237 broad.mit.edu 37 15 44066396 44066396 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:44066396C>A ENST00000319359.3 - 9 1663 c.1022G>T c.(1021-1023)gGa>gTa p.G341V RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 341 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) TTCTGGAGTTCCTCGCCGAAC 0.498000 6 65 0.0293803 0.029624 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76447593 76447593 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:76447593G>A ENST00000389840.5 - 66 10774 c.10650C>T c.(10648-10650)gcC>gcT p.A3550A DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3559A dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCACCACAGCGGCCAAGAGTT 0.582000 48 70 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2946457 2946457 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:2946457C>T ENST00000396946.4 - 25 3683 c.3280G>A c.(3280-3282)Gag>Aag p.E1094K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1094 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCTCCGTCTCAGGTCGGGGC 0.682000 Mis DLBCL 7 27 0 0 1 0 0 VN1R1 57191 broad.mit.edu 37 19 57967542 57967542 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:57967542G>C ENST00000321039.3 - 1 312 c.313C>G c.(313-315)Cag>Gag p.Q105E AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Missense_Mutation_p.Q70E NM_020633.3 NP_065684.1 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 105 response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) GCCATTGTCTGAGGTATCCCT 0.438000 45 49 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244110 56244110 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:56244110T>A ENST00000332836.2 - 2 1114 c.1087A>T c.(1087-1089)Aac>Tac p.N363Y NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 363 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TAGGTGGTGTTTTGGGAGTTT 0.428000 115 104 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17297197 17297197 + Missense_Mutation SNP G G T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:17297197G>T ENST00000375541.5 + 35 5788 c.5719G>T c.(5719-5721)Gac>Tac p.D1907Y NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1907 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGGCCGCCTGGACCGCACCCT 0.657000 5 4 4.096e-09 4.61179e-09 1 1 0 APOB 338 broad.mit.edu 37 2 21238038 21238038 + Silent SNP A A T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:21238038A>T ENST00000233242.1 - 23 3730 c.3603T>A c.(3601-3603)ccT>ccA p.P1201P NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1201 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCAAGCTCTTAGGATAATCGG 0.398000 53 61 0 0 1 0 0 CST7 8530 broad.mit.edu 37 20 24930144 24930144 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:24930144G>A ENST00000376835.2 + 1 279 c.69G>A c.(67-69)atG>atA p.M23I CST7_ENST00000480798.1_Start_Codon_SNP_p.M1I O76096 CYTF_HUMAN cystatin F (leukocystatin) 1 immune response cytoplasm|extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 GGGCAGCCATGCGAGCGGCTG 0.682000 10 62 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39082781 39082781 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr4:39082781G>A ENST00000261425.3 + 4 777 c.625G>A c.(625-627)Gag>Aag p.E209K KLHL5_ENST00000508137.2_Missense_Mutation_p.E68K|KLHL5_ENST00000359687.2_Missense_Mutation_p.E255K|KLHL5_ENST00000504108.1_Missense_Mutation_p.E255K|KLHL5_ENST00000261426.5_Missense_Mutation_p.E194K|KLHL5_ENST00000381930.3_Missense_Mutation_p.E255K NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 255 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TGATGTCAGAGAGGCAAGACA 0.378000 4 104 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49175854 49175854 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:49175854C>T ENST00000340334.7 - 17 2137 c.1769G>A c.(1768-1770)aGa>aAa p.R590K FOLH1_ENST00000343844.4_Missense_Mutation_p.R297K|FOLH1_ENST00000533034.1_Missense_Mutation_p.R590K|FOLH1_ENST00000356696.3_Missense_Mutation_p.R605K|FOLH1_ENST00000256999.2_Missense_Mutation_p.R605K NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 605 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AGCATACTTTCTTAAAACTAC 0.393000 30 68 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5932726 5932726 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:5932726G>C ENST00000378896.3 + 2 442 c.65G>C c.(64-66)aGa>aCa p.R22T MCM8_ENST00000378883.1_Missense_Mutation_p.R22T|MCM8_ENST00000378886.2_Missense_Mutation_p.R22T|MCM8_ENST00000265187.4_Missense_Mutation_p.R22T NM_001281520.1|NM_032485.4|NM_182802.1 NP_001268449.1|NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 22 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 AAAAGGGGAAGAGGTGGTGGG 0.428000 6 130 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51205763 51205763 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:51205763C>T ENST00000293441.1 - 11 1726 c.1708G>A c.(1708-1710)Gag>Aag p.E570K SHANK1_ENST00000359082.3_Missense_Mutation_p.E570K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E570K NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 570 SH3. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ATCTCCCCCTCGGCTTGGGCC 0.667000 9 31 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56581515 56581515 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:56581515G>A ENST00000323456.5 - 14 1676 c.1552C>T c.(1552-1554)Cga>Tga p.R518* MTMR4_ENST00000579925.1_Intron NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 518 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGCTTCTCTCGCTCACAGGGG 0.537000 16 130 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739310 62739310 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:62739310G>A ENST00000371153.4 - 3 1844 c.1466C>T c.(1465-1467)tCc>tTc p.S489F KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 489 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 ATGTACAGAGGAGGTAAGGAC 0.572000 13 84 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5046911 5046911 + Missense_Mutation SNP A A C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:5046911A>C ENST00000251170.7 + 8 1016 c.836A>C c.(835-837)gAc>gCc p.D279A NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 279 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TTCCACCTGGACAAGGCCCGG 0.577000 16 22 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560135 44560135 + Missense_Mutation SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr18:44560135C>A ENST00000332567.4 - 1 1853 c.1501G>T c.(1501-1503)Gct>Tct p.A501S KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 501 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGAAAGCAGCTTCCTCCCGG 0.607000 9 81 1.12685e-05 1.21261e-05 1 1 0 ALLC 55821 broad.mit.edu 37 2 3718758 3718758 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:3718758C>T ENST00000252505.3 + 2 173 c.11C>T c.(10-12)gCa>gTa p.A4V NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 23 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ATGGACATGGCATCTGAATCC 0.557000 HNSCC(21;0.051) 8 9 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21788284 21788284 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:21788284G>C ENST00000328843.6 + 53 8649 c.8618G>C c.(8617-8619)aGg>aCg p.R2873T DNAH11_ENST00000409508.3_Missense_Mutation_p.R2866T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2873 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGCTTGTCCAGGCTGGCAGCT 0.572000 Kartagener syndrome 23 51 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553776 19553776 + Nonsense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr14:19553776G>A ENST00000409832.3 + 1 412 c.360G>A c.(358-360)tgG>tgA p.W120* NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 120 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TGGGCCCTTGGGGAGACTACG 0.597000 44 366 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55523735 55523735 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:55523735G>A ENST00000302118.5 + 8 1497 c.1207G>A c.(1207-1209)Gag>Aag p.E403K PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.E203K NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 403 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GCTGTCTGCCGAGCCGGAGCT 0.612000 9 51 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510461 169510461 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:169510461G>A ENST00000367796.3 - 13 4083 c.3882C>T c.(3880-3882)ttC>ttT p.F1294F F5_ENST00000367797.3_Silent_p.F1289F P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1289 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTGTCTGGCTGAAGTCTAGAG 0.517000 21 251 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139826 50139826 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr20:50139826G>A ENST00000371564.3 - 2 1173 c.954C>T c.(952-954)atC>atT p.I318I NFATC2_ENST00000610033.1_Silent_p.I99I|NFATC2_ENST00000414705.1_Silent_p.I298I|NFATC2_ENST00000609507.1_Silent_p.I99I|NFATC2_ENST00000396009.3_Silent_p.I318I|NFATC2_ENST00000609943.1_Silent_p.I298I NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 318 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCTTGGGGGGGATCCCACAAG 0.692000 5 42 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60183917 60183917 + Silent SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr11:60183917C>A ENST00000300187.6 + 5 1753 c.1476C>A c.(1474-1476)acC>acA p.T492T MS4A14_ENST00000395005.2_Silent_p.T475T|MS4A14_ENST00000531787.1_Silent_p.T380T|MS4A14_ENST00000531783.1_Silent_p.T525T NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 492 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 ACCAGCAAACCAAAGCCTTGC 0.423000 37 62 1.07637e-12 1.24416e-12 1 1 0 RBL2 5934 broad.mit.edu 37 16 53487411 53487411 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr16:53487411C>G ENST00000262133.6 + 6 951 c.814C>G c.(814-816)Ccc>Gcc p.P272A RBL2_ENST00000544545.1_Missense_Mutation_p.P56A|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 272 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTCCTCTGACCCCCCTTGTAT 0.378000 28 129 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125617570 125617570 + Nonsense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:125617570G>C ENST00000373670.1 - 14 3308 c.2708C>G c.(2707-2709)tCa>tGa p.S903* RC3H2_ENST00000357244.2_Nonsense_Mutation_p.S903*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.S903* Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 903 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 ACCCCATTTTGAGATGATGGG 0.453000 8 30 0 0 1 0 0 WASL 8976 broad.mit.edu 37 7 123388672 123388672 + Splice_Site SNP C C A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr7:123388672C>A ENST00000223023.4 - 1 449 c.117G>T c.(115-117)gtG>gtT p.V39V NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 39 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTCCACTGACCACACATTTCT 0.687000 10 21 0.0135373 0.0137637 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185902757 185902757 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:185902757C>G ENST00000271588.4 + 11 1858 c.1629C>G c.(1627-1629)atC>atG p.I543M HMCN1_ENST00000367492.2_Missense_Mutation_p.I543M NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 543 Ig-like C2-type 2. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CATGTCTCATCATCAGTGCGG 0.463000 10 79 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52325025 52325025 + Missense_Mutation SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:52325025G>A ENST00000354773.4 + 3 523 c.427G>A c.(427-429)Gag>Aag p.E143K GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Missense_Mutation_p.E143K|GLYCTK_ENST00000305690.8_Missense_Mutation_p.E143K|GLYCTK_ENST00000461183.1_Missense_Mutation_p.E59K|GLYCTK_ENST00000471180.1_Missense_Mutation_p.E16K|GLYCTK_ENST00000436784.2_Missense_Mutation_p.E143K|GLYCTK_ENST00000473032.1_Missense_Mutation_p.E143K NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 143 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) CGAGGGTGCGGAGGACAACCT 0.627000 6 38 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39065009 39065009 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:39065009C>T ENST00000295373.6 - 13 2632 c.2506G>A c.(2506-2508)Gag>Aag p.E836K NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 836 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding 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) ACAATCCACTCTAATAAGGCC 0.388000 37 59 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91784691 91784691 + Missense_Mutation SNP A A G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:91784691A>G ENST00000370425.3 - 25 2854 c.2756T>C c.(2755-2757)tTt>tCt p.F919S HFM1_ENST00000294696.5_Missense_Mutation_p.F151S|HFM1_ENST00000370424.3_Missense_Mutation_p.F598S|HFM1_ENST00000462405.1_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 919 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTACACCTAAAACATTTAGC 0.348000 13 49 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15747979 15747979 + Missense_Mutation SNP T T A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr21:15747979T>A ENST00000285667.3 - 4 809 c.742A>T c.(742-744)Atg>Ttg p.M248L HSPA13_ENST00000544452.1_Missense_Mutation_p.M40L NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 248 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TTACCAGACATTGCTCGGGTT 0.537000 35 69 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327175 57327175 + Missense_Mutation SNP C C G TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:57327175C>G ENST00000326441.9 - 10 2998 c.2635G>C c.(2635-2637)Gag>Cag p.E879Q ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E879Q|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E753Q|PEG3_ENST00000598410.1_Missense_Mutation_p.E755Q|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 879 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CAAGGGTTCTCTCTGGCAGGA 0.438000 4 184 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG CTGCCGCTG - rs11278152 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr1:226924876_226924884delCTGCCGCTG ENST00000429204.1 - 2 603_611 c.276_284delCAGCGGCAG c.(274-285)agcagcggcagt>agt p.92_95SSGS>S ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000272117.3_In_Frame_Del_p.92_95SSGS>S NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 92 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.746 6 13 --- --- --- --- NRXN1 9378 broad.mit.edu 37 2 50724640 50724640 + Frame_Shift_Del DEL C C - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr2:50724640delC ENST00000404971.1 - 15 4169 c.2830delG c.(2830-2832)gcafs p.A944fs NRXN1_ENST00000406316.2_Frame_Shift_Del_p.A904fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.A904fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.A904fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.A896fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.A896fs NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 904 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACAGGATCTGCTATGATGTTC 0.413 16 21 --- --- --- --- BCHE 590 broad.mit.edu 37 3 165548141 165548141 + Frame_Shift_Del DEL T T - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr3:165548141delT ENST00000264381.3 - 2 847 c.681delA c.(679-681)gcafs p.A227fs BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 227 A -> V (in BChE deficiency). choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAGCTGCTCCTGCACTTTCTC 0.443 46 43 --- --- --- --- MIER3 166968 broad.mit.edu 37 5 56219568 56219568 + Frame_Shift_Del DEL G G - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr5:56219568delG ENST00000381226.3 - 12 1175 c.1160delC c.(1159-1161)cctfs p.P387fs MIER3_ENST00000409421.1_Frame_Shift_Del_p.P319fs|MIER3_ENST00000381213.3_Frame_Shift_Del_p.P381fs|MIER3_ENST00000381199.3_Frame_Shift_Del_p.P382fs|SETD9_ENST00000541720.1_Intron Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) CTGTTGATCAGGAATAGGCTC 0.413 19 104 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1257_1267delGGGGGTGCAAGGTGA c.(1255-1269)ctgggggtgcaaggt>ctgt p.GVQG420del NM_174922.3 NP_777582.4 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 420 integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 2 4 --- --- --- --- NUP188 23511 broad.mit.edu 37 9 131715088 131715088 + Frame_Shift_Del DEL C C - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr9:131715088delC ENST00000372577.2 + 3 145 c.124delC c.(124-126)cgafs p.R42fs NUP188_ENST00000550219.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Frame_Shift_Del_p.G62fs NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 42 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 ACATTGGCGGCGATTGTTAGA 0.398 12 60 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256778 69256783 + In_Frame_Del DEL GGTGTG GGTGTG - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr14:69256778_69256783delGGTGTG ENST00000439696.2 - 2 785_790 c.484_489delCACACC c.(484-489)cacaccdel p.HT162del ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_In_Frame_Del_p.HT162del NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 162 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AAAAGCCGATGGTGTGGAAGGTGCGG 0.670 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 29 --- --- --- --- KCNK10 54207 broad.mit.edu 37 14 88652467 88652467 + Frame_Shift_Del DEL C C - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr14:88652467delC ENST00000340700.5 - 7 1480 c.1029delG c.(1027-1029)tggfs p.W343fs KCNK10_ENST00000312350.5_Frame_Shift_Del_p.W348fs|KCNK10_ENST00000319231.5_Frame_Shift_Del_p.W348fs NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 343 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CATTGGCCTTCCACTCTGCCG 0.607 10 4 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57526295 57526296 + Frame_Shift_Ins INS - - T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:57526295_57526296insT ENST00000267811.5 + 12 1329_1330 c.1025_1026insT c.(1024-1029)gctttgfs p.L343fs TCF12_ENST00000557843.1_Frame_Shift_Ins_p.L343fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.L339fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.L173fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.L343fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.L107fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.L173fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.L343fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 343 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.K337fs*6(1)|p.K341fs*6(1) TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CTTGGAAAGGCTTTGGCATCTG 0.356 T TEC extraskeletal myxoid chondrosarcoma 12 73 --- --- --- --- CCDC33 80125 broad.mit.edu 37 15 74625627 74625627 + Frame_Shift_Del DEL A A - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:74625627delA ENST00000321288.5 + 19 2613 c.2613delA c.(2611-2613)ccafs p.P871fs CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Intron|CCDC33_ENST00000268082.4_Frame_Shift_Del_p.P261fs Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 849 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CGCATGGCCCAGGCCACTCAG 0.637 2 4 --- --- --- --- ZNF710 374655 broad.mit.edu 37 15 90611643 90611646 + Frame_Shift_Del DEL ACCT ACCT - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr15:90611643_90611646delACCT ENST00000268154.4 + 2 1525_1528 c.1274_1277delACCT c.(1273-1278)cacctgfs p.HL425fs NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) CTCAAGCGCCACCTGGCCTCCCAC 0.623 27 31 --- --- --- --- MINK1 50488 broad.mit.edu 37 17 4790980 4790982 + In_Frame_Del DEL GCA GCA - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:4790980_4790982delGCA ENST00000355280.6 + 12 1321_1323 c.1125_1127delGCA c.(1123-1128)ctgcag>ctg p.Q380del MINK1_ENST00000347992.7_In_Frame_Del_p.Q380del|MINK1_ENST00000453408.3_In_Frame_Del_p.Q380del NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 380 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 agcagcagctgcagcagcagcag 0.606 2 4 --- --- --- --- UBE2O 63893 broad.mit.edu 37 17 74387073 74387083 + Frame_Shift_Del DEL CGGAACTGCGT CGGAACTGCGT - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:74387073_74387083delCGGAACTGCGT ENST00000319380.7 - 18 3884_3894 c.3820_3830delACGCAGTTCCG c.(3820-3831)acgcagttccggfs p.TQFR1274fs NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1274 ATP binding|ubiquitin-protein ligase activity p.R1277W(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CAGGGCAGCCCGGAACTGCGTCAGGACACCC 0.611 30 145 --- --- --- --- USP36 57602 broad.mit.edu 37 17 76814848 76814850 + In_Frame_Del DEL CTT CTT - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr17:76814848_76814850delCTT ENST00000542802.3 - 10 1365_1367 c.922_924delAAG c.(922-924)aagdel p.K308del USP36_ENST00000449938.2_In_Frame_Del_p.K8del|USP36_ENST00000588467.1_5'UTR|USP36_ENST00000312010.6_In_Frame_Del_p.K308del Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TGGCTGGAACCTTCTTCTTGCAT 0.443 27 49 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13319694 13319696 + In_Frame_Del DEL TGG TGG - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr19:13319694_13319696delTGG ENST00000360228.5 - 46 6653_6655 c.6654_6656delCCA c.(6652-6657)caccat>cat p.2218_2219HH>H CACNA1A_ENST00000573710.2_In_Frame_Del_p.2219_2220HH>H NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2219 Poly-His. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGGCGGGGGAtggtggtggtggt 0.734 3 6 --- --- --- --- IGLJ3 28831 broad.mit.edu 37 22 23247131 23247131 + RNA DEL C C - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:23247131delC ENST00000390324.2 + 0 102 CTAGGGGCATCCCAGGGAGGG 0.617 62 68 --- --- --- --- SGSM1 129049 broad.mit.edu 37 22 25202313 25202313 + Splice_Site DEL T T - TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99c335b7-2ee4-4370-acca-ba3fa9dbcc45 c083066b-d113-4e03-a760-f1e0865b8dd2 g.chr22:25202313delT ENST00000400358.4 + 1 76 c.e1+2 SGSM1_ENST00000470591.1_Splice_Site|SGSM1_ENST00000400359.4_Splice_Site NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CCCCCGCGGGTAAGAGGCCGC 0.766 2 4 --- --- --- ---